ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.193A>T (p.Lys65Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.193A>T (p.Lys65Ter)
Variation ID: 868264 Accession: VCV000868264.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43106475 (GRCh38) [ NCBI UCSC ] 17: 41258492 (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 18, 2020 Apr 18, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.193A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys65Ter nonsense NM_001407581.1:c.193A>T NP_001394510.1:p.Lys65Ter nonsense NM_001407582.1:c.193A>T NP_001394511.1:p.Lys65Ter nonsense NM_001407583.1:c.193A>T NP_001394512.1:p.Lys65Ter nonsense NM_001407585.1:c.193A>T NP_001394514.1:p.Lys65Ter nonsense NM_001407587.1:c.193A>T NP_001394516.1:p.Lys65Ter nonsense NM_001407590.1:c.193A>T NP_001394519.1:p.Lys65Ter nonsense NM_001407591.1:c.193A>T NP_001394520.1:p.Lys65Ter nonsense NM_001407593.1:c.193A>T NP_001394522.1:p.Lys65Ter nonsense NM_001407594.1:c.193A>T NP_001394523.1:p.Lys65Ter nonsense NM_001407596.1:c.193A>T NP_001394525.1:p.Lys65Ter nonsense NM_001407597.1:c.193A>T NP_001394526.1:p.Lys65Ter nonsense NM_001407598.1:c.193A>T NP_001394527.1:p.Lys65Ter nonsense NM_001407602.1:c.193A>T NP_001394531.1:p.Lys65Ter nonsense NM_001407603.1:c.193A>T NP_001394532.1:p.Lys65Ter nonsense NM_001407605.1:c.193A>T NP_001394534.1:p.Lys65Ter nonsense NM_001407610.1:c.193A>T NP_001394539.1:p.Lys65Ter nonsense NM_001407611.1:c.193A>T NP_001394540.1:p.Lys65Ter nonsense NM_001407612.1:c.193A>T NP_001394541.1:p.Lys65Ter nonsense NM_001407613.1:c.193A>T NP_001394542.1:p.Lys65Ter nonsense NM_001407614.1:c.193A>T NP_001394543.1:p.Lys65Ter nonsense NM_001407615.1:c.193A>T NP_001394544.1:p.Lys65Ter nonsense NM_001407616.1:c.193A>T NP_001394545.1:p.Lys65Ter nonsense NM_001407617.1:c.193A>T NP_001394546.1:p.Lys65Ter nonsense NM_001407618.1:c.193A>T NP_001394547.1:p.Lys65Ter nonsense NM_001407619.1:c.193A>T NP_001394548.1:p.Lys65Ter nonsense NM_001407620.1:c.193A>T NP_001394549.1:p.Lys65Ter nonsense NM_001407621.1:c.193A>T NP_001394550.1:p.Lys65Ter nonsense NM_001407622.1:c.193A>T NP_001394551.1:p.Lys65Ter nonsense NM_001407623.1:c.193A>T NP_001394552.1:p.Lys65Ter nonsense NM_001407624.1:c.193A>T NP_001394553.1:p.Lys65Ter nonsense NM_001407625.1:c.193A>T NP_001394554.1:p.Lys65Ter nonsense NM_001407626.1:c.193A>T NP_001394555.1:p.Lys65Ter nonsense NM_001407627.1:c.193A>T NP_001394556.1:p.Lys65Ter nonsense NM_001407628.1:c.193A>T NP_001394557.1:p.Lys65Ter nonsense NM_001407629.1:c.193A>T NP_001394558.1:p.Lys65Ter nonsense NM_001407630.1:c.193A>T NP_001394559.1:p.Lys65Ter nonsense NM_001407631.1:c.193A>T NP_001394560.1:p.Lys65Ter nonsense NM_001407632.1:c.193A>T NP_001394561.1:p.Lys65Ter nonsense NM_001407633.1:c.193A>T NP_001394562.1:p.Lys65Ter nonsense NM_001407634.1:c.193A>T NP_001394563.1:p.Lys65Ter nonsense NM_001407635.1:c.193A>T NP_001394564.1:p.Lys65Ter nonsense NM_001407636.1:c.193A>T NP_001394565.1:p.Lys65Ter nonsense NM_001407637.1:c.193A>T NP_001394566.1:p.Lys65Ter nonsense NM_001407638.1:c.193A>T NP_001394567.1:p.Lys65Ter nonsense NM_001407639.1:c.193A>T NP_001394568.1:p.Lys65Ter nonsense NM_001407640.1:c.193A>T NP_001394569.1:p.Lys65Ter nonsense NM_001407641.1:c.193A>T NP_001394570.1:p.Lys65Ter nonsense NM_001407642.1:c.193A>T NP_001394571.1:p.Lys65Ter nonsense NM_001407644.1:c.193A>T NP_001394573.1:p.Lys65Ter nonsense NM_001407645.1:c.193A>T NP_001394574.1:p.Lys65Ter nonsense NM_001407646.1:c.193A>T NP_001394575.1:p.Lys65Ter nonsense NM_001407647.1:c.193A>T NP_001394576.1:p.Lys65Ter nonsense NM_001407648.1:c.193A>T NP_001394577.1:p.Lys65Ter nonsense NM_001407649.1:c.193A>T NP_001394578.1:p.Lys65Ter nonsense NM_001407652.1:c.193A>T NP_001394581.1:p.Lys65Ter nonsense NM_001407664.1:c.193A>T NP_001394593.1:p.Lys65Ter nonsense NM_001407665.1:c.193A>T NP_001394594.1:p.Lys65Ter nonsense NM_001407666.1:c.193A>T NP_001394595.1:p.Lys65Ter nonsense NM_001407667.1:c.193A>T NP_001394596.1:p.Lys65Ter nonsense NM_001407668.1:c.193A>T NP_001394597.1:p.Lys65Ter nonsense NM_001407669.1:c.193A>T NP_001394598.1:p.Lys65Ter nonsense NM_001407670.1:c.193A>T NP_001394599.1:p.Lys65Ter nonsense NM_001407671.1:c.193A>T NP_001394600.1:p.Lys65Ter nonsense NM_001407672.1:c.193A>T NP_001394601.1:p.Lys65Ter nonsense NM_001407673.1:c.193A>T NP_001394602.1:p.Lys65Ter nonsense NM_001407674.1:c.193A>T NP_001394603.1:p.Lys65Ter nonsense NM_001407675.1:c.193A>T NP_001394604.1:p.Lys65Ter nonsense NM_001407676.1:c.193A>T NP_001394605.1:p.Lys65Ter nonsense NM_001407677.1:c.193A>T NP_001394606.1:p.Lys65Ter nonsense NM_001407678.1:c.193A>T NP_001394607.1:p.Lys65Ter nonsense NM_001407679.1:c.193A>T NP_001394608.1:p.Lys65Ter nonsense NM_001407680.1:c.193A>T NP_001394609.1:p.Lys65Ter nonsense NM_001407681.1:c.193A>T NP_001394610.1:p.Lys65Ter nonsense NM_001407682.1:c.193A>T NP_001394611.1:p.Lys65Ter nonsense NM_001407683.1:c.193A>T NP_001394612.1:p.Lys65Ter nonsense NM_001407684.1:c.193A>T NP_001394613.1:p.Lys65Ter nonsense NM_001407685.1:c.193A>T NP_001394614.1:p.Lys65Ter nonsense NM_001407686.1:c.193A>T NP_001394615.1:p.Lys65Ter nonsense NM_001407687.1:c.193A>T NP_001394616.1:p.Lys65Ter nonsense NM_001407688.1:c.193A>T NP_001394617.1:p.Lys65Ter nonsense NM_001407689.1:c.193A>T NP_001394618.1:p.Lys65Ter nonsense NM_001407690.1:c.193A>T NP_001394619.1:p.Lys65Ter nonsense NM_001407691.1:c.193A>T NP_001394620.1:p.Lys65Ter nonsense NM_001407692.1:c.52A>T NP_001394621.1:p.Lys18Ter nonsense NM_001407694.1:c.52A>T NP_001394623.1:p.Lys18Ter nonsense NM_001407695.1:c.52A>T NP_001394624.1:p.Lys18Ter nonsense NM_001407696.1:c.52A>T NP_001394625.1:p.Lys18Ter nonsense NM_001407697.1:c.52A>T NP_001394626.1:p.Lys18Ter nonsense NM_001407698.1:c.52A>T NP_001394627.1:p.Lys18Ter nonsense NM_001407724.1:c.52A>T NP_001394653.1:p.Lys18Ter nonsense NM_001407725.1:c.52A>T NP_001394654.1:p.Lys18Ter nonsense NM_001407726.1:c.52A>T NP_001394655.1:p.Lys18Ter nonsense NM_001407727.1:c.52A>T NP_001394656.1:p.Lys18Ter nonsense NM_001407728.1:c.52A>T NP_001394657.1:p.Lys18Ter nonsense NM_001407729.1:c.52A>T NP_001394658.1:p.Lys18Ter nonsense NM_001407730.1:c.52A>T NP_001394659.1:p.Lys18Ter nonsense NM_001407731.1:c.52A>T NP_001394660.1:p.Lys18Ter nonsense NM_001407732.1:c.52A>T NP_001394661.1:p.Lys18Ter nonsense NM_001407733.1:c.52A>T NP_001394662.1:p.Lys18Ter nonsense NM_001407734.1:c.52A>T NP_001394663.1:p.Lys18Ter nonsense NM_001407735.1:c.52A>T NP_001394664.1:p.Lys18Ter nonsense NM_001407736.1:c.52A>T NP_001394665.1:p.Lys18Ter nonsense NM_001407737.1:c.52A>T NP_001394666.1:p.Lys18Ter nonsense NM_001407738.1:c.52A>T NP_001394667.1:p.Lys18Ter nonsense NM_001407739.1:c.52A>T NP_001394668.1:p.Lys18Ter nonsense NM_001407740.1:c.52A>T NP_001394669.1:p.Lys18Ter nonsense NM_001407741.1:c.52A>T NP_001394670.1:p.Lys18Ter nonsense NM_001407742.1:c.52A>T NP_001394671.1:p.Lys18Ter nonsense NM_001407743.1:c.52A>T NP_001394672.1:p.Lys18Ter nonsense NM_001407744.1:c.52A>T NP_001394673.1:p.Lys18Ter nonsense NM_001407745.1:c.52A>T NP_001394674.1:p.Lys18Ter nonsense NM_001407746.1:c.52A>T NP_001394675.1:p.Lys18Ter nonsense NM_001407747.1:c.52A>T NP_001394676.1:p.Lys18Ter nonsense NM_001407748.1:c.52A>T NP_001394677.1:p.Lys18Ter nonsense NM_001407749.1:c.52A>T NP_001394678.1:p.Lys18Ter nonsense NM_001407750.1:c.52A>T NP_001394679.1:p.Lys18Ter nonsense NM_001407751.1:c.52A>T NP_001394680.1:p.Lys18Ter nonsense NM_001407752.1:c.52A>T NP_001394681.1:p.Lys18Ter nonsense NM_001407838.1:c.52A>T NP_001394767.1:p.Lys18Ter nonsense NM_001407839.1:c.52A>T NP_001394768.1:p.Lys18Ter nonsense NM_001407841.1:c.52A>T NP_001394770.1:p.Lys18Ter nonsense NM_001407842.1:c.52A>T NP_001394771.1:p.Lys18Ter nonsense NM_001407843.1:c.52A>T NP_001394772.1:p.Lys18Ter nonsense NM_001407844.1:c.52A>T NP_001394773.1:p.Lys18Ter nonsense NM_001407845.1:c.52A>T NP_001394774.1:p.Lys18Ter nonsense NM_001407846.1:c.52A>T NP_001394775.1:p.Lys18Ter nonsense NM_001407847.1:c.52A>T NP_001394776.1:p.Lys18Ter nonsense NM_001407848.1:c.52A>T NP_001394777.1:p.Lys18Ter nonsense NM_001407849.1:c.52A>T NP_001394778.1:p.Lys18Ter nonsense NM_001407850.1:c.52A>T NP_001394779.1:p.Lys18Ter nonsense NM_001407851.1:c.52A>T NP_001394780.1:p.Lys18Ter nonsense NM_001407852.1:c.52A>T NP_001394781.1:p.Lys18Ter nonsense NM_001407854.1:c.193A>T NP_001394783.1:p.Lys65Ter nonsense NM_001407858.1:c.193A>T NP_001394787.1:p.Lys65Ter nonsense NM_001407859.1:c.193A>T NP_001394788.1:p.Lys65Ter nonsense NM_001407860.1:c.193A>T NP_001394789.1:p.Lys65Ter nonsense NM_001407861.1:c.193A>T NP_001394790.1:p.Lys65Ter nonsense NM_001407863.1:c.193A>T NP_001394792.1:p.Lys65Ter nonsense NM_001407919.1:c.193A>T NP_001394848.1:p.Lys65Ter nonsense NM_001407920.1:c.52A>T NP_001394849.1:p.Lys18Ter nonsense NM_001407921.1:c.52A>T NP_001394850.1:p.Lys18Ter nonsense NM_001407922.1:c.52A>T NP_001394851.1:p.Lys18Ter nonsense NM_001407923.1:c.52A>T NP_001394852.1:p.Lys18Ter nonsense NM_001407924.1:c.52A>T NP_001394853.1:p.Lys18Ter nonsense NM_001407925.1:c.52A>T NP_001394854.1:p.Lys18Ter nonsense NM_001407926.1:c.52A>T NP_001394855.1:p.Lys18Ter nonsense NM_001407927.1:c.52A>T NP_001394856.1:p.Lys18Ter nonsense NM_001407928.1:c.52A>T NP_001394857.1:p.Lys18Ter nonsense NM_001407929.1:c.52A>T NP_001394858.1:p.Lys18Ter nonsense NM_001407930.1:c.52A>T NP_001394859.1:p.Lys18Ter nonsense NM_001407931.1:c.52A>T NP_001394860.1:p.Lys18Ter nonsense NM_001407932.1:c.52A>T NP_001394861.1:p.Lys18Ter nonsense NM_001407933.1:c.52A>T NP_001394862.1:p.Lys18Ter nonsense NM_001407934.1:c.52A>T NP_001394863.1:p.Lys18Ter nonsense NM_001407935.1:c.52A>T NP_001394864.1:p.Lys18Ter nonsense NM_001407936.1:c.52A>T NP_001394865.1:p.Lys18Ter nonsense NM_001407937.1:c.193A>T NP_001394866.1:p.Lys65Ter nonsense NM_001407938.1:c.193A>T NP_001394867.1:p.Lys65Ter nonsense NM_001407939.1:c.193A>T NP_001394868.1:p.Lys65Ter nonsense NM_001407940.1:c.193A>T NP_001394869.1:p.Lys65Ter nonsense NM_001407941.1:c.193A>T NP_001394870.1:p.Lys65Ter nonsense NM_001407942.1:c.52A>T NP_001394871.1:p.Lys18Ter nonsense NM_001407943.1:c.52A>T NP_001394872.1:p.Lys18Ter nonsense NM_001407944.1:c.52A>T NP_001394873.1:p.Lys18Ter nonsense NM_001407945.1:c.52A>T NP_001394874.1:p.Lys18Ter nonsense NM_001407964.1:c.52A>T NP_001394893.1:p.Lys18Ter nonsense NM_001407968.1:c.193A>T NP_001394897.1:p.Lys65Ter nonsense NM_001407969.1:c.193A>T NP_001394898.1:p.Lys65Ter nonsense NM_001407970.1:c.193A>T NP_001394899.1:p.Lys65Ter nonsense NM_001407971.1:c.193A>T NP_001394900.1:p.Lys65Ter nonsense NM_001407972.1:c.193A>T NP_001394901.1:p.Lys65Ter nonsense NM_001407973.1:c.193A>T NP_001394902.1:p.Lys65Ter nonsense NM_001407974.1:c.193A>T NP_001394903.1:p.Lys65Ter nonsense NM_001407975.1:c.193A>T NP_001394904.1:p.Lys65Ter nonsense NM_001407976.1:c.193A>T NP_001394905.1:p.Lys65Ter nonsense NM_001407977.1:c.193A>T NP_001394906.1:p.Lys65Ter nonsense NM_001407978.1:c.193A>T NP_001394907.1:p.Lys65Ter nonsense NM_001407979.1:c.193A>T NP_001394908.1:p.Lys65Ter nonsense NM_001407980.1:c.193A>T NP_001394909.1:p.Lys65Ter nonsense NM_001407981.1:c.193A>T NP_001394910.1:p.Lys65Ter nonsense NM_001407982.1:c.193A>T NP_001394911.1:p.Lys65Ter nonsense NM_001407983.1:c.193A>T NP_001394912.1:p.Lys65Ter nonsense NM_001407984.1:c.193A>T NP_001394913.1:p.Lys65Ter nonsense NM_001407985.1:c.193A>T NP_001394914.1:p.Lys65Ter nonsense NM_001407986.1:c.193A>T NP_001394915.1:p.Lys65Ter nonsense NM_001407990.1:c.193A>T NP_001394919.1:p.Lys65Ter nonsense NM_001407991.1:c.193A>T NP_001394920.1:p.Lys65Ter nonsense NM_001407992.1:c.193A>T NP_001394921.1:p.Lys65Ter nonsense NM_001407993.1:c.193A>T NP_001394922.1:p.Lys65Ter nonsense NM_001408392.1:c.193A>T NP_001395321.1:p.Lys65Ter nonsense NM_001408396.1:c.193A>T NP_001395325.1:p.Lys65Ter nonsense NM_001408397.1:c.193A>T NP_001395326.1:p.Lys65Ter nonsense NM_001408398.1:c.193A>T NP_001395327.1:p.Lys65Ter nonsense NM_001408399.1:c.193A>T NP_001395328.1:p.Lys65Ter nonsense NM_001408400.1:c.193A>T NP_001395329.1:p.Lys65Ter nonsense NM_001408401.1:c.193A>T NP_001395330.1:p.Lys65Ter nonsense NM_001408402.1:c.193A>T NP_001395331.1:p.Lys65Ter nonsense NM_001408403.1:c.193A>T NP_001395332.1:p.Lys65Ter nonsense NM_001408404.1:c.193A>T NP_001395333.1:p.Lys65Ter nonsense NM_001408406.1:c.193A>T NP_001395335.1:p.Lys65Ter nonsense NM_001408407.1:c.193A>T NP_001395336.1:p.Lys65Ter nonsense NM_001408408.1:c.193A>T NP_001395337.1:p.Lys65Ter nonsense NM_001408410.1:c.52A>T NP_001395339.1:p.Lys18Ter nonsense NM_001408418.1:c.193A>T NP_001395347.1:p.Lys65Ter nonsense NM_001408419.1:c.193A>T NP_001395348.1:p.Lys65Ter nonsense NM_001408420.1:c.193A>T NP_001395349.1:p.Lys65Ter nonsense NM_001408421.1:c.193A>T NP_001395350.1:p.Lys65Ter nonsense NM_001408422.1:c.193A>T NP_001395351.1:p.Lys65Ter nonsense NM_001408423.1:c.193A>T NP_001395352.1:p.Lys65Ter nonsense NM_001408424.1:c.193A>T NP_001395353.1:p.Lys65Ter nonsense NM_001408425.1:c.193A>T NP_001395354.1:p.Lys65Ter nonsense NM_001408426.1:c.193A>T NP_001395355.1:p.Lys65Ter nonsense NM_001408427.1:c.193A>T NP_001395356.1:p.Lys65Ter nonsense NM_001408428.1:c.193A>T NP_001395357.1:p.Lys65Ter nonsense NM_001408429.1:c.193A>T NP_001395358.1:p.Lys65Ter nonsense NM_001408430.1:c.193A>T NP_001395359.1:p.Lys65Ter nonsense NM_001408431.1:c.193A>T NP_001395360.1:p.Lys65Ter nonsense NM_001408432.1:c.193A>T NP_001395361.1:p.Lys65Ter nonsense NM_001408433.1:c.193A>T NP_001395362.1:p.Lys65Ter nonsense NM_001408434.1:c.193A>T NP_001395363.1:p.Lys65Ter nonsense NM_001408435.1:c.193A>T NP_001395364.1:p.Lys65Ter nonsense NM_001408436.1:c.193A>T NP_001395365.1:p.Lys65Ter nonsense NM_001408437.1:c.193A>T NP_001395366.1:p.Lys65Ter nonsense NM_001408438.1:c.193A>T NP_001395367.1:p.Lys65Ter nonsense NM_001408439.1:c.193A>T NP_001395368.1:p.Lys65Ter nonsense NM_001408440.1:c.193A>T NP_001395369.1:p.Lys65Ter nonsense NM_001408441.1:c.193A>T NP_001395370.1:p.Lys65Ter nonsense NM_001408442.1:c.193A>T NP_001395371.1:p.Lys65Ter nonsense NM_001408443.1:c.193A>T NP_001395372.1:p.Lys65Ter nonsense NM_001408444.1:c.193A>T NP_001395373.1:p.Lys65Ter nonsense NM_001408445.1:c.193A>T NP_001395374.1:p.Lys65Ter nonsense NM_001408446.1:c.193A>T NP_001395375.1:p.Lys65Ter nonsense NM_001408447.1:c.193A>T NP_001395376.1:p.Lys65Ter nonsense NM_001408448.1:c.193A>T NP_001395377.1:p.Lys65Ter nonsense NM_001408450.1:c.193A>T NP_001395379.1:p.Lys65Ter nonsense NM_001408452.1:c.52A>T NP_001395381.1:p.Lys18Ter nonsense NM_001408453.1:c.52A>T NP_001395382.1:p.Lys18Ter nonsense NM_001408454.1:c.52A>T NP_001395383.1:p.Lys18Ter nonsense NM_001408455.1:c.52A>T NP_001395384.1:p.Lys18Ter nonsense NM_001408456.1:c.52A>T NP_001395385.1:p.Lys18Ter nonsense NM_001408457.1:c.52A>T NP_001395386.1:p.Lys18Ter nonsense NM_001408458.1:c.52A>T NP_001395387.1:p.Lys18Ter nonsense NM_001408459.1:c.52A>T NP_001395388.1:p.Lys18Ter nonsense NM_001408460.1:c.52A>T NP_001395389.1:p.Lys18Ter nonsense NM_001408461.1:c.52A>T NP_001395390.1:p.Lys18Ter nonsense NM_001408462.1:c.52A>T NP_001395391.1:p.Lys18Ter nonsense NM_001408463.1:c.52A>T NP_001395392.1:p.Lys18Ter nonsense NM_001408464.1:c.52A>T NP_001395393.1:p.Lys18Ter nonsense NM_001408465.1:c.52A>T NP_001395394.1:p.Lys18Ter nonsense NM_001408466.1:c.52A>T NP_001395395.1:p.Lys18Ter nonsense NM_001408467.1:c.52A>T NP_001395396.1:p.Lys18Ter nonsense NM_001408468.1:c.52A>T NP_001395397.1:p.Lys18Ter nonsense NM_001408469.1:c.52A>T NP_001395398.1:p.Lys18Ter nonsense NM_001408470.1:c.52A>T NP_001395399.1:p.Lys18Ter nonsense NM_001408472.1:c.193A>T NP_001395401.1:p.Lys65Ter nonsense NM_001408473.1:c.193A>T NP_001395402.1:p.Lys65Ter nonsense NM_001408494.1:c.193A>T NP_001395423.1:p.Lys65Ter nonsense NM_001408495.1:c.193A>T NP_001395424.1:p.Lys65Ter nonsense NM_001408496.1:c.52A>T NP_001395425.1:p.Lys18Ter nonsense NM_001408497.1:c.52A>T NP_001395426.1:p.Lys18Ter nonsense NM_001408498.1:c.52A>T NP_001395427.1:p.Lys18Ter nonsense NM_001408499.1:c.52A>T NP_001395428.1:p.Lys18Ter nonsense NM_001408500.1:c.52A>T NP_001395429.1:p.Lys18Ter nonsense NM_001408501.1:c.52A>T NP_001395430.1:p.Lys18Ter nonsense NM_001408503.1:c.52A>T NP_001395432.1:p.Lys18Ter nonsense NM_001408504.1:c.52A>T NP_001395433.1:p.Lys18Ter nonsense NM_001408505.1:c.52A>T NP_001395434.1:p.Lys18Ter nonsense NM_001408511.1:c.52A>T NP_001395440.1:p.Lys18Ter nonsense NM_007297.4:c.52A>T NP_009228.2:p.Lys18Ter nonsense NM_007298.4:c.193A>T NP_009229.2:p.Lys65Ter nonsense NM_007299.4:c.193A>T NP_009230.2:p.Lys65Ter nonsense NM_007300.4:c.193A>T NP_009231.2:p.Lys65Ter nonsense NM_007304.2:c.193A>T NP_009235.2:p.Lys65Ter nonsense NC_000017.11:g.43106475T>A NC_000017.10:g.41258492T>A NG_005905.2:g.111509A>T LRG_292:g.111509A>T LRG_292t1:c.193A>T LRG_292p1:p.Lys65Ter - Protein change
- K65*, K18*
- Other names
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- Canonical SPDI
- NC_000017.11:43106474:T:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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functionally_abnormal; Sequence Ontology [ SO:0002218]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.193A>T, a NONSENSE variant, produced a function score of -1.92, 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]
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
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 | ||
|---|---|---|---|---|---|---|
| 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 |
13044 | 14850 | |
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. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
|
- | RCV001077134.3 |
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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|---|---|---|---|---|---|
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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
|
Brotman Baty Institute, University of Washington
Accession: SCV001243011.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.91699414708455
|
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. |
|---|---|---|---|---|
|
functionally_abnormal
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Method citation(s):
|
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Brotman Baty Institute, University of Washington
Accession: SCV001243011.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.193A>T, a NONSENSE variant, produced a function score of -1.92, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.193A>T, a NONSENSE variant, produced a function score of -1.92, 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)
|
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
| https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs756948486 ...
HelpRecord last updated Oct 08, 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.