ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
Variation ID: 17693 Accession: VCV000017693.111
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43106457 (GRCh38) [ NCBI UCSC ] 17: 41258474 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Aug 11, 2024 Jun 18, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.211A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Arg71Gly missense NM_001407581.1:c.211A>G NP_001394510.1:p.Arg71Gly missense NM_001407582.1:c.211A>G NP_001394511.1:p.Arg71Gly missense NM_001407583.1:c.211A>G NP_001394512.1:p.Arg71Gly missense NM_001407585.1:c.211A>G NP_001394514.1:p.Arg71Gly missense NM_001407587.1:c.211A>G NP_001394516.1:p.Arg71Gly missense NM_001407590.1:c.211A>G NP_001394519.1:p.Arg71Gly missense NM_001407591.1:c.211A>G NP_001394520.1:p.Arg71Gly missense NM_001407593.1:c.211A>G NP_001394522.1:p.Arg71Gly missense NM_001407594.1:c.211A>G NP_001394523.1:p.Arg71Gly missense NM_001407596.1:c.211A>G NP_001394525.1:p.Arg71Gly missense NM_001407597.1:c.211A>G NP_001394526.1:p.Arg71Gly missense NM_001407598.1:c.211A>G NP_001394527.1:p.Arg71Gly missense NM_001407602.1:c.211A>G NP_001394531.1:p.Arg71Gly missense NM_001407603.1:c.211A>G NP_001394532.1:p.Arg71Gly missense NM_001407605.1:c.211A>G NP_001394534.1:p.Arg71Gly missense NM_001407610.1:c.211A>G NP_001394539.1:p.Arg71Gly missense NM_001407611.1:c.211A>G NP_001394540.1:p.Arg71Gly missense NM_001407612.1:c.211A>G NP_001394541.1:p.Arg71Gly missense NM_001407613.1:c.211A>G NP_001394542.1:p.Arg71Gly missense NM_001407614.1:c.211A>G NP_001394543.1:p.Arg71Gly missense NM_001407615.1:c.211A>G NP_001394544.1:p.Arg71Gly missense NM_001407616.1:c.211A>G NP_001394545.1:p.Arg71Gly missense NM_001407617.1:c.211A>G NP_001394546.1:p.Arg71Gly missense NM_001407618.1:c.211A>G NP_001394547.1:p.Arg71Gly missense NM_001407619.1:c.211A>G NP_001394548.1:p.Arg71Gly missense NM_001407620.1:c.211A>G NP_001394549.1:p.Arg71Gly missense NM_001407621.1:c.211A>G NP_001394550.1:p.Arg71Gly missense NM_001407622.1:c.211A>G NP_001394551.1:p.Arg71Gly missense NM_001407623.1:c.211A>G NP_001394552.1:p.Arg71Gly missense NM_001407624.1:c.211A>G NP_001394553.1:p.Arg71Gly missense NM_001407625.1:c.211A>G NP_001394554.1:p.Arg71Gly missense NM_001407626.1:c.211A>G NP_001394555.1:p.Arg71Gly missense NM_001407627.1:c.211A>G NP_001394556.1:p.Arg71Gly missense NM_001407628.1:c.211A>G NP_001394557.1:p.Arg71Gly missense NM_001407629.1:c.211A>G NP_001394558.1:p.Arg71Gly missense NM_001407630.1:c.211A>G NP_001394559.1:p.Arg71Gly missense NM_001407631.1:c.211A>G NP_001394560.1:p.Arg71Gly missense NM_001407632.1:c.211A>G NP_001394561.1:p.Arg71Gly missense NM_001407633.1:c.211A>G NP_001394562.1:p.Arg71Gly missense NM_001407634.1:c.211A>G NP_001394563.1:p.Arg71Gly missense NM_001407635.1:c.211A>G NP_001394564.1:p.Arg71Gly missense NM_001407636.1:c.211A>G NP_001394565.1:p.Arg71Gly missense NM_001407637.1:c.211A>G NP_001394566.1:p.Arg71Gly missense NM_001407638.1:c.211A>G NP_001394567.1:p.Arg71Gly missense NM_001407639.1:c.211A>G NP_001394568.1:p.Arg71Gly missense NM_001407640.1:c.211A>G NP_001394569.1:p.Arg71Gly missense NM_001407641.1:c.211A>G NP_001394570.1:p.Arg71Gly missense NM_001407642.1:c.211A>G NP_001394571.1:p.Arg71Gly missense NM_001407644.1:c.211A>G NP_001394573.1:p.Arg71Gly missense NM_001407645.1:c.211A>G NP_001394574.1:p.Arg71Gly missense NM_001407646.1:c.211A>G NP_001394575.1:p.Arg71Gly missense NM_001407647.1:c.211A>G NP_001394576.1:p.Arg71Gly missense NM_001407648.1:c.211A>G NP_001394577.1:p.Arg71Gly missense NM_001407649.1:c.211A>G NP_001394578.1:p.Arg71Gly missense NM_001407652.1:c.211A>G NP_001394581.1:p.Arg71Gly missense NM_001407664.1:c.211A>G NP_001394593.1:p.Arg71Gly missense NM_001407665.1:c.211A>G NP_001394594.1:p.Arg71Gly missense NM_001407666.1:c.211A>G NP_001394595.1:p.Arg71Gly missense NM_001407667.1:c.211A>G NP_001394596.1:p.Arg71Gly missense NM_001407668.1:c.211A>G NP_001394597.1:p.Arg71Gly missense NM_001407669.1:c.211A>G NP_001394598.1:p.Arg71Gly missense NM_001407670.1:c.211A>G NP_001394599.1:p.Arg71Gly missense NM_001407671.1:c.211A>G NP_001394600.1:p.Arg71Gly missense NM_001407672.1:c.211A>G NP_001394601.1:p.Arg71Gly missense NM_001407673.1:c.211A>G NP_001394602.1:p.Arg71Gly missense NM_001407674.1:c.211A>G NP_001394603.1:p.Arg71Gly missense NM_001407675.1:c.211A>G NP_001394604.1:p.Arg71Gly missense NM_001407676.1:c.211A>G NP_001394605.1:p.Arg71Gly missense NM_001407677.1:c.211A>G NP_001394606.1:p.Arg71Gly missense NM_001407678.1:c.211A>G NP_001394607.1:p.Arg71Gly missense NM_001407679.1:c.211A>G NP_001394608.1:p.Arg71Gly missense NM_001407680.1:c.211A>G NP_001394609.1:p.Arg71Gly missense NM_001407681.1:c.211A>G NP_001394610.1:p.Arg71Gly missense NM_001407682.1:c.211A>G NP_001394611.1:p.Arg71Gly missense NM_001407683.1:c.211A>G NP_001394612.1:p.Arg71Gly missense NM_001407684.1:c.211A>G NP_001394613.1:p.Arg71Gly missense NM_001407685.1:c.211A>G NP_001394614.1:p.Arg71Gly missense NM_001407686.1:c.211A>G NP_001394615.1:p.Arg71Gly missense NM_001407687.1:c.211A>G NP_001394616.1:p.Arg71Gly missense NM_001407688.1:c.211A>G NP_001394617.1:p.Arg71Gly missense NM_001407689.1:c.211A>G NP_001394618.1:p.Arg71Gly missense NM_001407690.1:c.211A>G NP_001394619.1:p.Arg71Gly missense NM_001407691.1:c.211A>G NP_001394620.1:p.Arg71Gly missense NM_001407692.1:c.70A>G NP_001394621.1:p.Arg24Gly missense NM_001407694.1:c.70A>G NP_001394623.1:p.Arg24Gly missense NM_001407695.1:c.70A>G NP_001394624.1:p.Arg24Gly missense NM_001407696.1:c.70A>G NP_001394625.1:p.Arg24Gly missense NM_001407697.1:c.70A>G NP_001394626.1:p.Arg24Gly missense NM_001407698.1:c.70A>G NP_001394627.1:p.Arg24Gly missense NM_001407724.1:c.70A>G NP_001394653.1:p.Arg24Gly missense NM_001407725.1:c.70A>G NP_001394654.1:p.Arg24Gly missense NM_001407726.1:c.70A>G NP_001394655.1:p.Arg24Gly missense NM_001407727.1:c.70A>G NP_001394656.1:p.Arg24Gly missense NM_001407728.1:c.70A>G NP_001394657.1:p.Arg24Gly missense NM_001407729.1:c.70A>G NP_001394658.1:p.Arg24Gly missense NM_001407730.1:c.70A>G NP_001394659.1:p.Arg24Gly missense NM_001407731.1:c.70A>G NP_001394660.1:p.Arg24Gly missense NM_001407732.1:c.70A>G NP_001394661.1:p.Arg24Gly missense NM_001407733.1:c.70A>G NP_001394662.1:p.Arg24Gly missense NM_001407734.1:c.70A>G NP_001394663.1:p.Arg24Gly missense NM_001407735.1:c.70A>G NP_001394664.1:p.Arg24Gly missense NM_001407736.1:c.70A>G NP_001394665.1:p.Arg24Gly missense NM_001407737.1:c.70A>G NP_001394666.1:p.Arg24Gly missense NM_001407738.1:c.70A>G NP_001394667.1:p.Arg24Gly missense NM_001407739.1:c.70A>G NP_001394668.1:p.Arg24Gly missense NM_001407740.1:c.70A>G NP_001394669.1:p.Arg24Gly missense NM_001407741.1:c.70A>G NP_001394670.1:p.Arg24Gly missense NM_001407742.1:c.70A>G NP_001394671.1:p.Arg24Gly missense NM_001407743.1:c.70A>G NP_001394672.1:p.Arg24Gly missense NM_001407744.1:c.70A>G NP_001394673.1:p.Arg24Gly missense NM_001407745.1:c.70A>G NP_001394674.1:p.Arg24Gly missense NM_001407746.1:c.70A>G NP_001394675.1:p.Arg24Gly missense NM_001407747.1:c.70A>G NP_001394676.1:p.Arg24Gly missense NM_001407748.1:c.70A>G NP_001394677.1:p.Arg24Gly missense NM_001407749.1:c.70A>G NP_001394678.1:p.Arg24Gly missense NM_001407750.1:c.70A>G NP_001394679.1:p.Arg24Gly missense NM_001407751.1:c.70A>G NP_001394680.1:p.Arg24Gly missense NM_001407752.1:c.70A>G NP_001394681.1:p.Arg24Gly missense NM_001407838.1:c.70A>G NP_001394767.1:p.Arg24Gly missense NM_001407839.1:c.70A>G NP_001394768.1:p.Arg24Gly missense NM_001407841.1:c.70A>G NP_001394770.1:p.Arg24Gly missense NM_001407842.1:c.70A>G NP_001394771.1:p.Arg24Gly missense NM_001407843.1:c.70A>G NP_001394772.1:p.Arg24Gly missense NM_001407844.1:c.70A>G NP_001394773.1:p.Arg24Gly missense NM_001407845.1:c.70A>G NP_001394774.1:p.Arg24Gly missense NM_001407846.1:c.70A>G NP_001394775.1:p.Arg24Gly missense NM_001407847.1:c.70A>G NP_001394776.1:p.Arg24Gly missense NM_001407848.1:c.70A>G NP_001394777.1:p.Arg24Gly missense NM_001407849.1:c.70A>G NP_001394778.1:p.Arg24Gly missense NM_001407850.1:c.70A>G NP_001394779.1:p.Arg24Gly missense NM_001407851.1:c.70A>G NP_001394780.1:p.Arg24Gly missense NM_001407852.1:c.70A>G NP_001394781.1:p.Arg24Gly missense NM_001407854.1:c.211A>G NP_001394783.1:p.Arg71Gly missense NM_001407858.1:c.211A>G NP_001394787.1:p.Arg71Gly missense NM_001407859.1:c.211A>G NP_001394788.1:p.Arg71Gly missense NM_001407860.1:c.211A>G NP_001394789.1:p.Arg71Gly missense NM_001407861.1:c.211A>G NP_001394790.1:p.Arg71Gly missense NM_001407863.1:c.211A>G NP_001394792.1:p.Arg71Gly missense NM_001407919.1:c.211A>G NP_001394848.1:p.Arg71Gly missense NM_001407920.1:c.70A>G NP_001394849.1:p.Arg24Gly missense NM_001407921.1:c.70A>G NP_001394850.1:p.Arg24Gly missense NM_001407922.1:c.70A>G NP_001394851.1:p.Arg24Gly missense NM_001407923.1:c.70A>G NP_001394852.1:p.Arg24Gly missense NM_001407924.1:c.70A>G NP_001394853.1:p.Arg24Gly missense NM_001407925.1:c.70A>G NP_001394854.1:p.Arg24Gly missense NM_001407926.1:c.70A>G NP_001394855.1:p.Arg24Gly missense NM_001407927.1:c.70A>G NP_001394856.1:p.Arg24Gly missense NM_001407928.1:c.70A>G NP_001394857.1:p.Arg24Gly missense NM_001407929.1:c.70A>G NP_001394858.1:p.Arg24Gly missense NM_001407930.1:c.70A>G NP_001394859.1:p.Arg24Gly missense NM_001407931.1:c.70A>G NP_001394860.1:p.Arg24Gly missense NM_001407932.1:c.70A>G NP_001394861.1:p.Arg24Gly missense NM_001407933.1:c.70A>G NP_001394862.1:p.Arg24Gly missense NM_001407934.1:c.70A>G NP_001394863.1:p.Arg24Gly missense NM_001407935.1:c.70A>G NP_001394864.1:p.Arg24Gly missense NM_001407936.1:c.70A>G NP_001394865.1:p.Arg24Gly missense NM_001407937.1:c.211A>G NP_001394866.1:p.Arg71Gly missense NM_001407938.1:c.211A>G NP_001394867.1:p.Arg71Gly missense NM_001407939.1:c.211A>G NP_001394868.1:p.Arg71Gly missense NM_001407940.1:c.211A>G NP_001394869.1:p.Arg71Gly missense NM_001407941.1:c.211A>G NP_001394870.1:p.Arg71Gly missense NM_001407942.1:c.70A>G NP_001394871.1:p.Arg24Gly missense NM_001407943.1:c.70A>G NP_001394872.1:p.Arg24Gly missense NM_001407944.1:c.70A>G NP_001394873.1:p.Arg24Gly missense NM_001407945.1:c.70A>G NP_001394874.1:p.Arg24Gly missense NM_001407964.1:c.70A>G NP_001394893.1:p.Arg24Gly missense NM_001407968.1:c.211A>G NP_001394897.1:p.Arg71Gly missense NM_001407969.1:c.211A>G NP_001394898.1:p.Arg71Gly missense NM_001407970.1:c.211A>G NP_001394899.1:p.Arg71Gly missense NM_001407971.1:c.211A>G NP_001394900.1:p.Arg71Gly missense NM_001407972.1:c.211A>G NP_001394901.1:p.Arg71Gly missense NM_001407973.1:c.211A>G NP_001394902.1:p.Arg71Gly missense NM_001407974.1:c.211A>G NP_001394903.1:p.Arg71Gly missense NM_001407975.1:c.211A>G NP_001394904.1:p.Arg71Gly missense NM_001407976.1:c.211A>G NP_001394905.1:p.Arg71Gly missense NM_001407977.1:c.211A>G NP_001394906.1:p.Arg71Gly missense NM_001407978.1:c.211A>G NP_001394907.1:p.Arg71Gly missense NM_001407979.1:c.211A>G NP_001394908.1:p.Arg71Gly missense NM_001407980.1:c.211A>G NP_001394909.1:p.Arg71Gly missense NM_001407981.1:c.211A>G NP_001394910.1:p.Arg71Gly missense NM_001407982.1:c.211A>G NP_001394911.1:p.Arg71Gly missense NM_001407983.1:c.211A>G NP_001394912.1:p.Arg71Gly missense NM_001407984.1:c.211A>G NP_001394913.1:p.Arg71Gly missense NM_001407985.1:c.211A>G NP_001394914.1:p.Arg71Gly missense NM_001407986.1:c.211A>G NP_001394915.1:p.Arg71Gly missense NM_001407990.1:c.211A>G NP_001394919.1:p.Arg71Gly missense NM_001407991.1:c.211A>G NP_001394920.1:p.Arg71Gly missense NM_001407992.1:c.211A>G NP_001394921.1:p.Arg71Gly missense NM_001407993.1:c.211A>G NP_001394922.1:p.Arg71Gly missense NM_001408392.1:c.211A>G NP_001395321.1:p.Arg71Gly missense NM_001408396.1:c.211A>G NP_001395325.1:p.Arg71Gly missense NM_001408397.1:c.211A>G NP_001395326.1:p.Arg71Gly missense NM_001408398.1:c.211A>G NP_001395327.1:p.Arg71Gly missense NM_001408399.1:c.211A>G NP_001395328.1:p.Arg71Gly missense NM_001408400.1:c.211A>G NP_001395329.1:p.Arg71Gly missense NM_001408401.1:c.211A>G NP_001395330.1:p.Arg71Gly missense NM_001408402.1:c.211A>G NP_001395331.1:p.Arg71Gly missense NM_001408403.1:c.211A>G NP_001395332.1:p.Arg71Gly missense NM_001408404.1:c.211A>G NP_001395333.1:p.Arg71Gly missense NM_001408406.1:c.211A>G NP_001395335.1:p.Arg71Gly missense NM_001408407.1:c.211A>G NP_001395336.1:p.Arg71Gly missense NM_001408408.1:c.211A>G NP_001395337.1:p.Arg71Gly missense NM_001408410.1:c.70A>G NP_001395339.1:p.Arg24Gly missense NM_001408418.1:c.211A>G NP_001395347.1:p.Arg71Gly missense NM_001408419.1:c.211A>G NP_001395348.1:p.Arg71Gly missense NM_001408420.1:c.211A>G NP_001395349.1:p.Arg71Gly missense NM_001408421.1:c.211A>G NP_001395350.1:p.Arg71Gly missense NM_001408422.1:c.211A>G NP_001395351.1:p.Arg71Gly missense NM_001408423.1:c.211A>G NP_001395352.1:p.Arg71Gly missense NM_001408424.1:c.211A>G NP_001395353.1:p.Arg71Gly missense NM_001408425.1:c.211A>G NP_001395354.1:p.Arg71Gly missense NM_001408426.1:c.211A>G NP_001395355.1:p.Arg71Gly missense NM_001408427.1:c.211A>G NP_001395356.1:p.Arg71Gly missense NM_001408428.1:c.211A>G NP_001395357.1:p.Arg71Gly missense NM_001408429.1:c.211A>G NP_001395358.1:p.Arg71Gly missense NM_001408430.1:c.211A>G NP_001395359.1:p.Arg71Gly missense NM_001408431.1:c.211A>G NP_001395360.1:p.Arg71Gly missense NM_001408432.1:c.211A>G NP_001395361.1:p.Arg71Gly missense NM_001408433.1:c.211A>G NP_001395362.1:p.Arg71Gly missense NM_001408434.1:c.211A>G NP_001395363.1:p.Arg71Gly missense NM_001408435.1:c.211A>G NP_001395364.1:p.Arg71Gly missense NM_001408436.1:c.211A>G NP_001395365.1:p.Arg71Gly missense NM_001408437.1:c.211A>G NP_001395366.1:p.Arg71Gly missense NM_001408438.1:c.211A>G NP_001395367.1:p.Arg71Gly missense NM_001408439.1:c.211A>G NP_001395368.1:p.Arg71Gly missense NM_001408440.1:c.211A>G NP_001395369.1:p.Arg71Gly missense NM_001408441.1:c.211A>G NP_001395370.1:p.Arg71Gly missense NM_001408442.1:c.211A>G NP_001395371.1:p.Arg71Gly missense NM_001408443.1:c.211A>G NP_001395372.1:p.Arg71Gly missense NM_001408444.1:c.211A>G NP_001395373.1:p.Arg71Gly missense NM_001408445.1:c.211A>G NP_001395374.1:p.Arg71Gly missense NM_001408446.1:c.211A>G NP_001395375.1:p.Arg71Gly missense NM_001408447.1:c.211A>G NP_001395376.1:p.Arg71Gly missense NM_001408448.1:c.211A>G NP_001395377.1:p.Arg71Gly missense NM_001408450.1:c.211A>G NP_001395379.1:p.Arg71Gly missense NM_001408452.1:c.70A>G NP_001395381.1:p.Arg24Gly missense NM_001408453.1:c.70A>G NP_001395382.1:p.Arg24Gly missense NM_001408454.1:c.70A>G NP_001395383.1:p.Arg24Gly missense NM_001408455.1:c.70A>G NP_001395384.1:p.Arg24Gly missense NM_001408456.1:c.70A>G NP_001395385.1:p.Arg24Gly missense NM_001408457.1:c.70A>G NP_001395386.1:p.Arg24Gly missense NM_001408458.1:c.70A>G NP_001395387.1:p.Arg24Gly missense NM_001408459.1:c.70A>G NP_001395388.1:p.Arg24Gly missense NM_001408460.1:c.70A>G NP_001395389.1:p.Arg24Gly missense NM_001408461.1:c.70A>G NP_001395390.1:p.Arg24Gly missense NM_001408462.1:c.70A>G NP_001395391.1:p.Arg24Gly missense NM_001408463.1:c.70A>G NP_001395392.1:p.Arg24Gly missense NM_001408464.1:c.70A>G NP_001395393.1:p.Arg24Gly missense NM_001408465.1:c.70A>G NP_001395394.1:p.Arg24Gly missense NM_001408466.1:c.70A>G NP_001395395.1:p.Arg24Gly missense NM_001408467.1:c.70A>G NP_001395396.1:p.Arg24Gly missense NM_001408468.1:c.70A>G NP_001395397.1:p.Arg24Gly missense NM_001408469.1:c.70A>G NP_001395398.1:p.Arg24Gly missense NM_001408470.1:c.70A>G NP_001395399.1:p.Arg24Gly missense NM_001408472.1:c.211A>G NP_001395401.1:p.Arg71Gly missense NM_001408473.1:c.211A>G NP_001395402.1:p.Arg71Gly missense NM_001408494.1:c.211A>G NP_001395423.1:p.Arg71Gly missense NM_001408495.1:c.211A>G NP_001395424.1:p.Arg71Gly missense NM_001408496.1:c.70A>G NP_001395425.1:p.Arg24Gly missense NM_001408497.1:c.70A>G NP_001395426.1:p.Arg24Gly missense NM_001408498.1:c.70A>G NP_001395427.1:p.Arg24Gly missense NM_001408499.1:c.70A>G NP_001395428.1:p.Arg24Gly missense NM_001408500.1:c.70A>G NP_001395429.1:p.Arg24Gly missense NM_001408501.1:c.70A>G NP_001395430.1:p.Arg24Gly missense NM_001408503.1:c.70A>G NP_001395432.1:p.Arg24Gly missense NM_001408504.1:c.70A>G NP_001395433.1:p.Arg24Gly missense NM_001408505.1:c.70A>G NP_001395434.1:p.Arg24Gly missense NM_001408511.1:c.70A>G NP_001395440.1:p.Arg24Gly missense NM_007297.4:c.70A>G NP_009228.2:p.Arg24Gly missense NM_007298.4:c.211A>G NP_009229.2:p.Arg71Gly missense NM_007299.4:c.211A>G NP_009230.2:p.Arg71Gly missense NM_007300.4:c.211A>G NP_009231.2:p.Arg71Gly missense NM_007304.2:c.211A>G NP_009235.2:p.Arg71Gly missense NC_000017.11:g.43106457T>C NC_000017.10:g.41258474T>C NG_005905.2:g.111527A>G LRG_292:g.111527A>G LRG_292t1:c.211A>G LRG_292p1:p.Arg71Gly U14680.1:n.330A>G - Protein change
- R71G, R24G
- Other names
- p.R71G:AGG>GGG
- 330A>G
- Canonical SPDI
- NC_000017.11:43106456:T:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functionally_abnormal Sequence Ontology [SO:0002218]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.211A>G, a MISSENSE variant, produced a function score of -1.49, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00000
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13019 | 14822 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (12) |
reviewed by expert panel
|
Jun 18, 2019 | RCV000019263.33 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
|
Sep 18, 2023 | RCV000047713.30 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
|
Jan 31, 2024 | RCV000195359.26 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
May 23, 2024 | RCV000131899.23 | |
Pathogenic (2) |
criteria provided, single submitter
|
Feb 23, 2017 | RCV000469732.11 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jul 2, 2018 | RCV000508177.16 | |
Pathogenic (1) |
criteria provided, single submitter
|
Dec 8, 2021 | RCV000763009.11 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jun 18, 2019)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV001161539.2
First in ClinVar: Feb 16, 2020 Last updated: Jan 07, 2023 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.999388 (less)
|
|
Pathogenic
(Feb 23, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Baylor Genetics
Accession: SCV000540947.1
First in ClinVar: Apr 17, 2017 Last updated: Apr 17, 2017 |
Number of individuals with the variant: 1
|
|
Pathogenic
(Jan 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Genologica Medica
Additional submitter:
Servicio Andaluz de Salud, Hospital Universitario Virgen de la Victoria
Accession: SCV000577917.1
First in ClinVar: Oct 22, 2016 Last updated: Oct 22, 2016 |
Family history: yes
Ethnicity/Population group: Causasians
Geographic origin: Spain
Tissue: Blood
Secondary finding: no
|
|
Pathogenic
(Jul 02, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602724.2
First in ClinVar: Sep 30, 2017 Last updated: Feb 09, 2020 |
Comment:
The BRCA1 c.211A>G; p.Arg71Gly variant (rs80357382), also known as 330A>G, has been described in multiple families with history of breast and/or ovarian cancers (Diez 1999, … (more)
The BRCA1 c.211A>G; p.Arg71Gly variant (rs80357382), also known as 330A>G, has been described in multiple families with history of breast and/or ovarian cancers (Diez 1999, Sanz 2010, Vega 2001). It is reported as pathogenic by several laboratories in ClinVar (Variation ID: 17693), and is only observed on 1 allele in the Genome Aggregation Database. This variant is two nucleotide from the canonical splice site, and computational algorithms (Alamut v.2.11) predict the weakening or loss of the splice donor. Consistent with this, functional characterization of the variant indicates aberrant splicing of the BRCA1 transcript, resulting in the introduction of a premature termination codon (Houdayer 2012, Sanz 2010, Vega 2001). Based on available information, this variant is considered pathogenic. References: Diez O et al. BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families. Int J Cancer. 1999; 83(4):465-9. Houdayer C et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Hum Mutat. 2012; 33(8):1228-38. Sanz D et al. A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. Clin Cancer Res. 2010; 16(6):1957-67. Vega A et al. The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat. 2001; 17(6):520-1. (less)
|
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Pathogenic
(Dec 27, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698917.2
First in ClinVar: Dec 26, 2017 Last updated: Jan 09, 2021 |
Comment:
Variant summary: BRCA1 c.211A>G (p.Arg71Gly) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging … (more)
Variant summary: BRCA1 c.211A>G (p.Arg71Gly) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. As a variant located within the exonic-splice region close to the intronic splice donor site, several computational tools predict a significant impact on normal splicing: Two predict the variant abolishes a 5' splicing donor site. Two predict the variant weakens a 5' donor site. At least two publications report experimental evidence that this variant affects mRNA splicing (example, Vega_2001, Santos_2009). The variant allele was found at a frequency of 4e-06 in 249844 control chromosomes. c.211A>G has been widely reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example Rebbeck_2018). These data indicate that the variant is very likely to be associated with disease. At-least one mutually exclusive co-occurrence with another pathogenic variant(s) has been reported in the UMD database (BRCA2 c.2701delC, p.Ala902LeufsX2). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in a loss of function as evaluated in a high throughput system that used saturation genome editing to assess homology directed repair (HDR) activity (Findlay_2018). Multiple clinical diagnostic laboratories and one expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014. Some submitters cite overlapping evidence utilized in the context of this evaluation. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
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Pathogenic
(Nov 01, 2021)
|
criteria provided, single submitter
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Genetics Program, Instituto Nacional de Cancer
Accession: SCV002515220.1
First in ClinVar: Nov 19, 2022 Last updated: Nov 19, 2022 |
Geographic origin: Brazil
|
|
Pathogenic
(Feb 13, 2022)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538094.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The BRCA1 c.211A>G (p.R71G) variant has been reported in heterozygosity in multiple individuals with breast cancer and/or ovarian cancer (PMID: 11385711, 20215541, 29446198, 30606148). The … (more)
The BRCA1 c.211A>G (p.R71G) variant has been reported in heterozygosity in multiple individuals with breast cancer and/or ovarian cancer (PMID: 11385711, 20215541, 29446198, 30606148). The variant has also been reported in 7/60466 women with breast cancer and 0/53461 controls in a large case control study evaluating breast cancer risk (PMID: 33471991). Some functional assays demonstrated normal function of the protein (PMID: 11320250, 21725363). However, other functional studies have shown that this variant results in aberrant splicing of exon 5 and creation of a premature stop codon at position 64. (PMID: 11385711, 20215541). The variant is also known as c.330A>G in the literature. This variant was observed in 1/113176 chromosomes in the Non-Finnish European population, according to the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). The variant has been reported in ClinVar (Variation ID: 17693). Based on the current evidence available, this variant is interpreted as pathogenic. (less)
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|
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Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325237.4
First in ClinVar: Oct 22, 2016 Last updated: Dec 11, 2022 |
|
|
Pathogenic
(Jul 02, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV000839310.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
|
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Pathogenic
(Mar 16, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000488382.2
First in ClinVar: Oct 22, 2016 Last updated: Dec 24, 2022 |
|
|
Pathogenic
(Dec 08, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000893454.2
First in ClinVar: Mar 31, 2019 Last updated: Dec 31, 2022 |
|
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Pathogenic
(Feb 07, 2022)
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criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000210069.15
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Exonic splice variant demonstrated to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease … (more)
Exonic splice variant demonstrated to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease (Vega 2001, Santos 2009); Published functional studies demonstrate a damaging effect: classified as loss of function based on results of a cell survival assay and multifactorial likelihood analysis suggests this variant is pathogenic (Findlay 2018, Parsons 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 330A>G; This variant is associated with the following publications: (PMID: 21725363, 27083775, 28477318, 28664506, 20215541, 23161852, 15235020, 11320250, 10508480, 21735045, 26246475, 25823446, 19123044, 25782689, 26913838, 22505045, 28453507, 28127413, 27081505, 27836010, 30240327, 29884136, 30103829, 20103620, 30209399, 29446198, 11385711, 30995943, 30720243, 30606148, 30630528, 31131967, 31454914, 25525159, 33087888, 31589614, 32341426, 32719484, 33558524, 20104584, 24389207, 27535533) (less)
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Pathogenic
(Sep 18, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296343.7
First in ClinVar: Oct 11, 2015 Last updated: Jan 06, 2024 |
Comment:
The BRCA1 c.211A>G (p.Arg71Gly) variant has been reported in the published literature in multiple individuals with breast cancer and it is described as a founder … (more)
The BRCA1 c.211A>G (p.Arg71Gly) variant has been reported in the published literature in multiple individuals with breast cancer and it is described as a founder mutation in the Spanish population (PMIDs: 11385711 (2001) and 20215541 (2010)). In a large-scale breast cancer association study, the variant was observed among the breast cancer cases and not in healthy individuals (PMID: 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/genes/BRCA1)). Published functional studies have shown that this variant has a deleterious effect on BRCA1 mRNA splicing (PMIDs: 11385711 (2001), 20215541 (2010), 21735045 (2012), and 22505045 (2012)). In addition, this variant has been characterized as being pathogenic in a multifactorial likelihood study (PMID: 31131967 (2019)). The frequency of this variant in the general population, 0.000004 (1/249744 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, this variant is classified as pathogenic. (less)
|
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Pathogenic
(Jan 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000075726.15
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 71 of the BRCA1 protein (p.Arg71Gly). … (more)
This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 71 of the BRCA1 protein (p.Arg71Gly). RNA analysis indicates that this missense change induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs80357382, gnomAD 0.0009%). This missense change has been observed in individual(s) with breast and ovarian cancer (PMID: 12014998, 20215541). It is commonly reported in individuals of Spanish ancestry (PMID: 11385711, 23683081, 27081505). This variant is also known as 330A>G. ClinVar contains an entry for this variant (Variation ID: 17693). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 2316185, 11320250, 16403807, 20103620, 21725363). Studies have shown that this missense change results in activation of a cryptic splice site and exon 4 skipping and introduces a premature termination codon (PMID: 2173504, 11385711, 19123044, 20215541; Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(Dec 22, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004212728.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
|
|
Pathogenic
(May 23, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000186954.9
First in ClinVar: Aug 06, 2014 Last updated: Aug 11, 2024 |
Comment:
The c.211A>G pathogenic mutation (also known as p.R71G), located in coding exon 3 of the BRCA1 gene, results from an A to G substitution at … (more)
The c.211A>G pathogenic mutation (also known as p.R71G), located in coding exon 3 of the BRCA1 gene, results from an A to G substitution at nucleotide position 211. Also designated as 330A>G in some published literature, this mutation has been described as a founder mutation originating from the Galicia region of North Western Spain and has been reported in numerous breast and ovarian cancer patients and families (Villarreal-Garza C et al. Breast Cancer Res. Treat. 2015 Apr;150:389-94; Janavièius R. EPMA J. 2010 Sep;1:397-412; Diez O et al. Int. J. Cancer. 1999 Nov;83:465-9; Rebbeck TR et al. Breast Cancer Res. 2016 Nov;18(1):112; Alvarez C et al. Oncotarget, 2017 Sep;8:74233-74243; Yang XR et al. Breast Cancer Res. Treat. 2017 Oct;165(3):687-697; Cotrim DP et al. BMC Cancer, 2019 Jan;19:4). Additionally, this mutation has been described in five unrelated families and was observed to result in aberrant splicing (Ambry internal data; Sanz DJ et al. Clin. Cancer Res. 2010 Mar;16:1957-67; Houdayer C et al. Hum. Mutat. 2012 Aug;33:1228-38). One functional study found that this nucleotide substitution is deleterious in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature 2018 10;562(7726):217-222). In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Based on the available evidence, this alteration is classified as a disease-causing mutation. (less)
|
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Pathogenic
(Apr 20, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Department of Pathology and Molecular Medicine, Queen's University
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000588028.1 First in ClinVar: Apr 16, 2017 Last updated: Apr 16, 2017 |
|
|
Pathogenic
(Mar 05, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
DASA
Accession: SCV002107091.2
First in ClinVar: Mar 28, 2022 Last updated: Apr 02, 2022 |
Comment:
Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product (PMID 30209399; 11385711; 19123044). - PS3_moderate.The … (more)
Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product (PMID 30209399; 11385711; 19123044). - PS3_moderate.The c.211A>G;p.(Arg71Gly) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 17693; PMID: 12014998) - PS4. The variant is present at low allele frequencies population databases (rs80357382 – gnomAD 0.00004004%; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2_supporting. Pathogenic missense variant in this residue have been reported (ClinVar ID:185705; ClinVar ID:54471; ClinVar ID :267512) - PM5. The variant co-segregated with disease in multiple affected family members (PMID: 12014998; 20215541) - PP1. In summary, the currently available evidence indicates that the variant is pathogenic. (less)
Number of individuals with the variant: 2
Sex: female
Geographic origin: Brazil
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Pathogenic
(Jul 22, 2021)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002512509.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
Comment:
ACMG classification criteria: PS3 supporting, PS4 strong, PM2 moderate, PM5 moderate, PP1 strong, PP3 supporting
Geographic origin: Brazil
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Pathogenic
(Feb 17, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002017851.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Dec 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000537653.5
First in ClinVar: Mar 24, 2017 Last updated: Feb 14, 2024 |
Comment:
This variant is located in exon 4 near the intron 4 splice donor site. RNA analyses have shown that this variant results in out-of-frame splicing … (more)
This variant is located in exon 4 near the intron 4 splice donor site. RNA analyses have shown that this variant results in out-of-frame splicing involving exon 4 that is predicted to cause an absent or non-functional protein product (PMID: 11385711, 20215541, 22505045). This variant has been reported to be loss-of-function in a haploid cell proliferation assay (PMID: 30209399). This variant has been reported in over 20 individuals and families affected with breast and ovarian cancer (PMID: 10508480, 12955716, 18159056, 19123044, 20104584, 23683081, 25716084, 28664506, 28985766, 29088781, 30606148, 33471991; Leiden Open Variation Database DB-ID BRCA1_000059), and has been identified in 129 families among the CIMBA participants (PMID: 29446198) (https://cimba.ccge.medschl.cam.ac.uk/). Haplotype analysis suggests that this variant is a founder mutation originating in Northern Spain (PMID: 11385711, 12014998). This variant has been reported to segregate with disease with a likelihood ratio for pathogenicity of 383.2656 (PMID: 31131967). This variant has been identified in 1/249744 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline,
somatic
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144658.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 6
Observation 2:
Number of individuals with the variant: 1
Geographic origin: Latin American, Caribbean
Observation 3:
Number of individuals with the variant: 2
Geographic origin: Spain
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: African, Latin American, Caribbean, African, Mexican, Western Indies
Observation 5:
Number of individuals with the variant: 16
Ethnicity/Population group: Galician
Geographic origin: Spain
Observation 6:
Number of individuals with the variant: 4
Ethnicity/Population group: Latin American, Caribbean
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Latin American, Caribbean, Puerto Rican
Observation 8:
Number of individuals with the variant: 2
Ethnicity/Population group: Western European
Observation 9:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Latin American, Caribbe
Observation 10:
Number of individuals with the variant: 2
Ethnicity/Population group: Western European, Latin American, Caribbean
Observation 11:
Number of individuals with the variant: 2
Geographic origin: Spain
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Pathogenic
(Oct 15, 2012)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000053620.5
First in ClinVar: Apr 04, 2013 Last updated: Oct 11, 2015 |
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Pathogenic
(Oct 01, 2003)
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no assertion criteria provided
Method: literature only
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BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000039551.2
First in ClinVar: Apr 04, 2013 Last updated: Mar 25, 2018 |
Comment on evidence:
Vega et al. (2002) studied 30 Spanish breast and breast/ovarian cancer (604370) families for mutations in the BRCA1 and BRCA2 genes. Mutations were found in … (more)
Vega et al. (2002) studied 30 Spanish breast and breast/ovarian cancer (604370) families for mutations in the BRCA1 and BRCA2 genes. Mutations were found in 8 of the 30 families (26.66%). All mutations were in the BRCA1 gene. The 330A-G transition in the BRCA1 gene, which resulted in an arg71-to-gly (R71G) substitution, was found in 4 unrelated families and accounted for 50% of all identified mutations. It had been described as a founder Spanish mutation, leading to aberrant splicing (Vega et al., 2001). The proband in 1 family had bilateral breast cancer at 27 and 30 years of age. Her mother, who also had the mutation, was diagnosed as having ovarian cancer at the age of 50. Diez et al. (2003) stated that the 330A-G mutation affected the splice donor site in intron 5; it caused aberrant splicing which resulted in a deletion of 22 nucleotides in exon 5 and a stop at codon 64 (C64X). Diez et al. (2003) observed this mutation in 7 families, most of them of known Galician origin. As reported in the BRCA1 database, the 330A-G mutation had been observed in families with probable Spanish origin in diverse geographic locations in Europe other than Spain (France and the United Kingdom), and in Caribbean and South American families. (less)
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Pathogenic
(Apr 08, 2020)
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no assertion criteria provided
Method: research
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Familial Breast Cancer
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
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Center of Medical Genetics and Primary Health Care
Accession: SCV000978253.3
First in ClinVar: Feb 27, 2020 Last updated: May 12, 2020 |
Comment:
ACMG Guidelines 2015 criteria The BRCA1 variant p.Arg71Gly is a known pathogenic missense mutation in exon 5 that is found in the Zinc finger domain, … (more)
ACMG Guidelines 2015 criteria The BRCA1 variant p.Arg71Gly is a known pathogenic missense mutation in exon 5 that is found in the Zinc finger domain, RING/FYVE/PHD-type (E10-85E aa). It is now recognized to bind DNA, RNA, protein and/or lipid substrates (PMID: 17210253). It is found in a mutational hotspot including 28 pathogenic frameshift and nonsense variants (PM1 Pathogenic Moderate). It was conformed via RT-PCR that this variant results in the loss of 22 nucleotides in exon 5 and a subsequent premature stop codon due to a cryptic splice donor site (PMID: 11385711; 19123044) (PS3 Pathogenic Strong). The allele frequency in GnomAD exomes is 0.000004 which is less the threshold 0.0001 for recessive gene BRCA1, and the variant is not found in GnomAD genomes (PM2 Pathogenic Moderate). Three different pathogenic missense changes at the same amino acid residue (chr17:41258473C>A (Arg71Ile); chr17:41258473C>G (Arg71Thr); chr17:41258473C>T (Arg71Lys)) have been reported in ClinVar (PM5 Pathogenic Moderate). 10 pathogenic predictions from DANN, EIGEN, FATHMM-MKL, M-CAP, MVP, MutationAssessor, MutationTaster, PrimateAI, REVEL and SIFT versus 1 benign prediction from DEOGEN2 support its deleterious effect (PP3 Pathogenic Supporting). The variant has been classified as pathogenic by the ClinGen-approved ENIGMA expert panel (ClinVar SCV001161539.1) (PP5 Pathogenic Supporting). In our study this variant was found in a 36-year-old female with unilateral breast cancer and a family history of breast cancer. Therefore, this variant was classified as a Pathogenic. (less)
Sex: female
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001930239.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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Pathogenic
(Mar 02, 2020)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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BRCAlab, Lund University
Accession: SCV004244183.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587031.1 First in ClinVar: Apr 16, 2017 Last updated: Apr 16, 2017 |
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001553303.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Number of individuals with the variant: 1
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001956283.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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not provided
(-)
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no classification provided
Method: in vitro
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Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
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Brotman Baty Institute, University of Washington
Accession: SCV001241677.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.49271759046098
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Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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functionally_abnormal
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Method citation(s):
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Brotman Baty Institute, University of Washington
Accession: SCV001241677.1
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Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.211A>G, a MISSENSE variant, produced a function score of -1.49, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.211A>G, a MISSENSE variant, produced a function score of -1.49, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service. | Matta BP | Scientific reports | 2022 | PMID: 36329109 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | Parsons MT | Human mutation | 2019 | PMID: 31131967 |
Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil. | Cotrim DP | BMC cancer | 2019 | PMID: 30606148 |
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile. | Alvarez C | Oncotarget | 2017 | PMID: 29088781 |
Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations. | Jara L | Biological research | 2017 | PMID: 28985766 |
Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia. | Yang XR | Breast cancer research and treatment | 2017 | PMID: 28664506 |
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. | Rebbeck TR | Breast cancer research : BCR | 2016 | PMID: 27836010 |
Functional isogenic modeling of BRCA1 alleles reveals distinct carrier phenotypes. | Cochran RL | Oncotarget | 2015 | PMID: 26246475 |
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. | Starita LM | Genetics | 2015 | PMID: 25823446 |
The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer. | Villarreal-Garza C | Breast cancer research and treatment | 2015 | PMID: 25716084 |
Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population. | Felix GE | Human genome variation | 2014 | PMID: 27081505 |
Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). | Blay P | BMC cancer | 2013 | PMID: 23683081 |
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. | Towler WI | Human mutation | 2013 | PMID: 23161852 |
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. | Houdayer C | Human mutation | 2012 | PMID: 22505045 |
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes. | Menéndez M | Breast cancer research and treatment | 2012 | PMID: 21735045 |
Functional differences among BRCA1 missense mutations in the control of centrosome duplication. | Kais Z | Oncogene | 2012 | PMID: 21725363 |
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. | Sanz DJ | Clinical cancer research : an official journal of the American Association for Cancer Research | 2010 | PMID: 20215541 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. | Ransburgh DJ | Cancer research | 2010 | PMID: 20103620 |
Genetic services have value beyond BRCA1/2 testing. | Hall MJ | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2009 | PMID: 19208665 |
Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin. | Santos C | Familial cancer | 2009 | PMID: 19123044 |
Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. | John EM | JAMA | 2007 | PMID: 18159056 |
Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility. | Morris JR | Human molecular genetics | 2006 | PMID: 16403807 |
Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms. | Pettigrew C | Breast cancer research : BCR | 2005 | PMID: 16280041 |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Abkevich V | Journal of medical genetics | 2004 | PMID: 15235020 |
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. | Díez O | Human mutation | 2003 | PMID: 12955716 |
Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula. | Vega A | Annals of human genetics | 2002 | PMID: 12014998 |
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. | Vega A | Human mutation | 2001 | PMID: 11385711 |
Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. | Ruffner H | Proceedings of the National Academy of Sciences of the United States of America | 2001 | PMID: 11320250 |
BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families. | Díez O | International journal of cancer | 1999 | PMID: 10508480 |
Mitogen stimulation of canine normal and myasthenia gravis lymphocytes. | Shelton GD | Veterinary immunology and immunopathology | 1990 | PMID: 2316185 |
GABAmimetics diminish antinociception of meperidine under conditions which enhance other opioid mu-agonists. | Wynn RL | Archives internationales de pharmacodynamie et de therapie | 1990 | PMID: 2173504 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Vega et al. Human Mutation 2001; Vega et al. Ann Hum Genet 2002 | - | - | - | - |
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Text-mined citations for rs80357382 ...
HelpRecord last updated Sep 17, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.