ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.67del (p.Glu23fs)
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.67del (p.Glu23fs)
Variation ID: 1755509 Accession: VCV001755509.2
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43124030 (GRCh38) [ NCBI UCSC ] 17: 41276047 (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 Nov 29, 2022 May 1, 2024 Mar 29, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.67del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu23fs frameshift NM_001407571.1:c.-122delG NM_001407581.1:c.67delG NP_001394510.1:p.Glu23Serfs frameshift NM_001407582.1:c.67delG NP_001394511.1:p.Glu23Serfs frameshift NM_001407583.1:c.67delG NP_001394512.1:p.Glu23Serfs frameshift NM_001407585.1:c.67delG NP_001394514.1:p.Glu23Serfs frameshift NM_001407587.1:c.67delG NP_001394516.1:p.Glu23Serfs frameshift NM_001407590.1:c.67delG NP_001394519.1:p.Glu23Serfs frameshift NM_001407591.1:c.67delG NP_001394520.1:p.Glu23Serfs frameshift NM_001407593.1:c.67delG NP_001394522.1:p.Glu23Serfs frameshift NM_001407594.1:c.67delG NP_001394523.1:p.Glu23Serfs frameshift NM_001407596.1:c.67delG NP_001394525.1:p.Glu23Serfs frameshift NM_001407597.1:c.67delG NP_001394526.1:p.Glu23Serfs frameshift NM_001407598.1:c.67delG NP_001394527.1:p.Glu23Serfs frameshift NM_001407602.1:c.67delG NP_001394531.1:p.Glu23Serfs frameshift NM_001407603.1:c.67delG NP_001394532.1:p.Glu23Serfs frameshift NM_001407605.1:c.67delG NP_001394534.1:p.Glu23Serfs frameshift NM_001407610.1:c.67delG NP_001394539.1:p.Glu23Serfs frameshift NM_001407611.1:c.67delG NP_001394540.1:p.Glu23Serfs frameshift NM_001407612.1:c.67delG NP_001394541.1:p.Glu23Serfs frameshift NM_001407613.1:c.67delG NP_001394542.1:p.Glu23Serfs frameshift NM_001407614.1:c.67delG NP_001394543.1:p.Glu23Serfs frameshift NM_001407615.1:c.67delG NP_001394544.1:p.Glu23Serfs frameshift NM_001407616.1:c.67delG NP_001394545.1:p.Glu23Serfs frameshift NM_001407617.1:c.67delG NP_001394546.1:p.Glu23Serfs frameshift NM_001407618.1:c.67delG NP_001394547.1:p.Glu23Serfs frameshift NM_001407619.1:c.67delG NP_001394548.1:p.Glu23Serfs frameshift NM_001407620.1:c.67delG NP_001394549.1:p.Glu23Serfs frameshift NM_001407621.1:c.67delG NP_001394550.1:p.Glu23Serfs frameshift NM_001407622.1:c.67delG NP_001394551.1:p.Glu23Serfs frameshift NM_001407623.1:c.67delG NP_001394552.1:p.Glu23Serfs frameshift NM_001407624.1:c.67delG NP_001394553.1:p.Glu23Serfs frameshift NM_001407625.1:c.67delG NP_001394554.1:p.Glu23Serfs frameshift NM_001407626.1:c.67delG NP_001394555.1:p.Glu23Serfs frameshift NM_001407627.1:c.67delG NP_001394556.1:p.Glu23Serfs frameshift NM_001407628.1:c.67delG NP_001394557.1:p.Glu23Serfs frameshift NM_001407629.1:c.67delG NP_001394558.1:p.Glu23Serfs frameshift NM_001407630.1:c.67delG NP_001394559.1:p.Glu23Serfs frameshift NM_001407631.1:c.67delG NP_001394560.1:p.Glu23Serfs frameshift NM_001407632.1:c.67delG NP_001394561.1:p.Glu23Serfs frameshift NM_001407633.1:c.67delG NP_001394562.1:p.Glu23Serfs frameshift NM_001407634.1:c.67delG NP_001394563.1:p.Glu23Serfs frameshift NM_001407635.1:c.67delG NP_001394564.1:p.Glu23Serfs frameshift NM_001407636.1:c.67delG NP_001394565.1:p.Glu23Serfs frameshift NM_001407637.1:c.67delG NP_001394566.1:p.Glu23Serfs frameshift NM_001407638.1:c.67delG NP_001394567.1:p.Glu23Serfs frameshift NM_001407639.1:c.67delG NP_001394568.1:p.Glu23Serfs frameshift NM_001407640.1:c.67delG NP_001394569.1:p.Glu23Serfs frameshift NM_001407641.1:c.67delG NP_001394570.1:p.Glu23Serfs frameshift NM_001407642.1:c.67delG NP_001394571.1:p.Glu23Serfs frameshift NM_001407644.1:c.67delG NP_001394573.1:p.Glu23Serfs frameshift NM_001407645.1:c.67delG NP_001394574.1:p.Glu23Serfs frameshift NM_001407646.1:c.67delG NP_001394575.1:p.Glu23Serfs frameshift NM_001407647.1:c.67delG NP_001394576.1:p.Glu23Serfs frameshift NM_001407648.1:c.67delG NP_001394577.1:p.Glu23Serfs frameshift NM_001407649.1:c.67delG NP_001394578.1:p.Glu23Serfs frameshift NM_001407652.1:c.67delG NP_001394581.1:p.Glu23Serfs frameshift NM_001407653.1:c.67delG NP_001394582.1:p.Glu23Serfs frameshift NM_001407654.1:c.67delG NP_001394583.1:p.Glu23Serfs frameshift NM_001407655.1:c.67delG NP_001394584.1:p.Glu23Serfs frameshift NM_001407656.1:c.67delG NP_001394585.1:p.Glu23Serfs frameshift NM_001407657.1:c.67delG NP_001394586.1:p.Glu23Serfs frameshift NM_001407658.1:c.67delG NP_001394587.1:p.Glu23Serfs frameshift NM_001407659.1:c.67delG NP_001394588.1:p.Glu23Serfs frameshift NM_001407660.1:c.67delG NP_001394589.1:p.Glu23Serfs frameshift NM_001407661.1:c.67delG NP_001394590.1:p.Glu23Serfs frameshift NM_001407662.1:c.67delG NP_001394591.1:p.Glu23Serfs frameshift NM_001407663.1:c.67delG NP_001394592.1:p.Glu23Serfs frameshift NM_001407664.1:c.67delG NP_001394593.1:p.Glu23Serfs frameshift NM_001407665.1:c.67delG NP_001394594.1:p.Glu23Serfs frameshift NM_001407666.1:c.67delG NP_001394595.1:p.Glu23Serfs frameshift NM_001407667.1:c.67delG NP_001394596.1:p.Glu23Serfs frameshift NM_001407668.1:c.67delG NP_001394597.1:p.Glu23Serfs frameshift NM_001407669.1:c.67delG NP_001394598.1:p.Glu23Serfs frameshift NM_001407670.1:c.67delG NP_001394599.1:p.Glu23Serfs frameshift NM_001407671.1:c.67delG NP_001394600.1:p.Glu23Serfs frameshift NM_001407672.1:c.67delG NP_001394601.1:p.Glu23Serfs frameshift NM_001407673.1:c.67delG NP_001394602.1:p.Glu23Serfs frameshift NM_001407674.1:c.67delG NP_001394603.1:p.Glu23Serfs frameshift NM_001407675.1:c.67delG NP_001394604.1:p.Glu23Serfs frameshift NM_001407676.1:c.67delG NP_001394605.1:p.Glu23Serfs frameshift NM_001407677.1:c.67delG NP_001394606.1:p.Glu23Serfs frameshift NM_001407678.1:c.67delG NP_001394607.1:p.Glu23Serfs frameshift NM_001407679.1:c.67delG NP_001394608.1:p.Glu23Serfs frameshift NM_001407680.1:c.67delG NP_001394609.1:p.Glu23Serfs frameshift NM_001407681.1:c.67delG NP_001394610.1:p.Glu23Serfs frameshift NM_001407682.1:c.67delG NP_001394611.1:p.Glu23Serfs frameshift NM_001407683.1:c.67delG NP_001394612.1:p.Glu23Serfs frameshift NM_001407684.1:c.67delG NP_001394613.1:p.Glu23Serfs frameshift NM_001407685.1:c.67delG NP_001394614.1:p.Glu23Serfs frameshift NM_001407686.1:c.67delG NP_001394615.1:p.Glu23Serfs frameshift NM_001407687.1:c.67delG NP_001394616.1:p.Glu23Serfs frameshift NM_001407688.1:c.67delG NP_001394617.1:p.Glu23Serfs frameshift NM_001407689.1:c.67delG NP_001394618.1:p.Glu23Serfs frameshift NM_001407690.1:c.67delG NP_001394619.1:p.Glu23Serfs frameshift NM_001407691.1:c.67delG NP_001394620.1:p.Glu23Serfs frameshift NM_001407694.1:c.-191delG NM_001407695.1:c.-195delG NM_001407696.1:c.-336delG NM_001407697.1:c.-220delG NM_001407698.1:c.-21delG NM_001407724.1:c.-191delG NM_001407725.1:c.-194delG NM_001407726.1:c.-140delG NM_001407727.1:c.-191delG NM_001407730.1:c.-194delG NM_001407731.1:c.-191delG NM_001407732.1:c.-21delG NM_001407733.1:c.-191delG NM_001407734.1:c.-194delG NM_001407736.1:c.-21delG NM_001407738.1:c.-21delG NM_001407739.1:c.-194delG NM_001407740.1:c.-194delG NM_001407741.1:c.-198delG NM_001407742.1:c.-21delG NM_001407744.1:c.-21delG NM_001407748.1:c.-194delG NM_001407749.1:c.-191delG NM_001407750.1:c.-21delG NM_001407751.1:c.-140delG NM_001407752.1:c.-194delG NM_001407838.1:c.-194delG NM_001407841.1:c.-71delG NM_001407842.1:c.-191delG NM_001407843.1:c.-191delG NM_001407845.1:c.-21delG NM_001407846.1:c.-220delG NM_001407847.1:c.-194delG NM_001407849.1:c.-21delG NM_001407850.1:c.-194delG NM_001407852.1:c.-21delG NM_001407853.1:c.-122delG NM_001407854.1:c.67delG NP_001394783.1:p.Glu23Serfs frameshift NM_001407858.1:c.67delG NP_001394787.1:p.Glu23Serfs frameshift NM_001407859.1:c.67delG NP_001394788.1:p.Glu23Serfs frameshift NM_001407860.1:c.67delG NP_001394789.1:p.Glu23Serfs frameshift NM_001407861.1:c.67delG NP_001394790.1:p.Glu23Serfs frameshift NM_001407862.1:c.67delG NP_001394791.1:p.Glu23Serfs frameshift NM_001407863.1:c.67delG NP_001394792.1:p.Glu23Serfs frameshift NM_001407874.1:c.67delG NP_001394803.1:p.Glu23Serfs frameshift NM_001407875.1:c.67delG NP_001394804.1:p.Glu23Serfs frameshift NM_001407879.1:c.-122delG NM_001407881.1:c.-68delG NM_001407882.1:c.-122delG NM_001407884.1:c.-122delG NM_001407886.1:c.-122delG NM_001407887.1:c.-122delG NM_001407889.1:c.-238delG NM_001407894.1:c.-122delG NM_001407895.1:c.-122delG NM_001407897.1:c.-122delG NM_001407898.1:c.-68delG NM_001407899.1:c.-122delG NM_001407902.1:c.-68delG NM_001407904.1:c.-122delG NM_001407906.1:c.-122delG NM_001407907.1:c.-122delG NM_001407908.1:c.-122delG NM_001407909.1:c.-122delG NM_001407910.1:c.-122delG NM_001407915.1:c.-122delG NM_001407916.1:c.-122delG NM_001407917.1:c.-241delG NM_001407918.1:c.-122delG NM_001407919.1:c.67delG NP_001394848.1:p.Glu23Serfs frameshift NM_001407920.1:c.-220delG NM_001407921.1:c.-194delG NM_001407923.1:c.-194delG NM_001407924.1:c.-21delG NM_001407925.1:c.-21delG NM_001407927.1:c.-194delG NM_001407928.1:c.-21delG NM_001407929.1:c.-21delG NM_001407930.1:c.-191delG NM_001407932.1:c.-21delG NM_001407933.1:c.-194delG NM_001407934.1:c.-198delG NM_001407936.1:c.-21delG NM_001407937.1:c.67delG NP_001394866.1:p.Glu23Serfs frameshift NM_001407938.1:c.67delG NP_001394867.1:p.Glu23Serfs frameshift NM_001407939.1:c.67delG NP_001394868.1:p.Glu23Serfs frameshift NM_001407940.1:c.67delG NP_001394869.1:p.Glu23Serfs frameshift NM_001407941.1:c.67delG NP_001394870.1:p.Glu23Serfs frameshift NM_001407942.1:c.-191delG NM_001407943.1:c.-194delG NM_001407944.1:c.-194delG NM_001407945.1:c.-21delG NM_001407946.1:c.-122delG NM_001407947.1:c.-122delG NM_001407948.1:c.-122delG NM_001407949.1:c.-122delG NM_001407950.1:c.-122delG NM_001407951.1:c.-122delG NM_001407952.1:c.-122delG NM_001407953.1:c.-122delG NM_001407954.1:c.-241delG NM_001407955.1:c.-122delG NM_001407956.1:c.-122delG NM_001407957.1:c.-122delG NM_001407958.1:c.-122delG NM_001407965.1:c.-353delG NM_001407968.1:c.67delG NP_001394897.1:p.Glu23Serfs frameshift NM_001407969.1:c.67delG NP_001394898.1:p.Glu23Serfs frameshift NM_001407970.1:c.67delG NP_001394899.1:p.Glu23Serfs frameshift NM_001407971.1:c.67delG NP_001394900.1:p.Glu23Serfs frameshift NM_001407972.1:c.67delG NP_001394901.1:p.Glu23Serfs frameshift NM_001407973.1:c.67delG NP_001394902.1:p.Glu23Serfs frameshift NM_001407974.1:c.67delG NP_001394903.1:p.Glu23Serfs frameshift NM_001407975.1:c.67delG NP_001394904.1:p.Glu23Serfs frameshift NM_001407976.1:c.67delG NP_001394905.1:p.Glu23Serfs frameshift NM_001407977.1:c.67delG NP_001394906.1:p.Glu23Serfs frameshift NM_001407978.1:c.67delG NP_001394907.1:p.Glu23Serfs frameshift NM_001407979.1:c.67delG NP_001394908.1:p.Glu23Serfs frameshift NM_001407980.1:c.67delG NP_001394909.1:p.Glu23Serfs frameshift NM_001407981.1:c.67delG NP_001394910.1:p.Glu23Serfs frameshift NM_001407982.1:c.67delG NP_001394911.1:p.Glu23Serfs frameshift NM_001407983.1:c.67delG NP_001394912.1:p.Glu23Serfs frameshift NM_001407984.1:c.67delG NP_001394913.1:p.Glu23Serfs frameshift NM_001407985.1:c.67delG NP_001394914.1:p.Glu23Serfs frameshift NM_001407986.1:c.67delG NP_001394915.1:p.Glu23Serfs frameshift NM_001407990.1:c.67delG NP_001394919.1:p.Glu23Serfs frameshift NM_001407991.1:c.67delG NP_001394920.1:p.Glu23Serfs frameshift NM_001407992.1:c.67delG NP_001394921.1:p.Glu23Serfs frameshift NM_001407993.1:c.67delG NP_001394922.1:p.Glu23Serfs frameshift NM_001408392.1:c.67delG NP_001395321.1:p.Glu23Serfs frameshift NM_001408396.1:c.67delG NP_001395325.1:p.Glu23Serfs frameshift NM_001408397.1:c.67delG NP_001395326.1:p.Glu23Serfs frameshift NM_001408398.1:c.67delG NP_001395327.1:p.Glu23Serfs frameshift NM_001408399.1:c.67delG NP_001395328.1:p.Glu23Serfs frameshift NM_001408400.1:c.67delG NP_001395329.1:p.Glu23Serfs frameshift NM_001408401.1:c.67delG NP_001395330.1:p.Glu23Serfs frameshift NM_001408402.1:c.67delG NP_001395331.1:p.Glu23Serfs frameshift NM_001408403.1:c.67delG NP_001395332.1:p.Glu23Serfs frameshift NM_001408404.1:c.67delG NP_001395333.1:p.Glu23Serfs frameshift NM_001408406.1:c.67delG NP_001395335.1:p.Glu23Serfs frameshift NM_001408407.1:c.67delG NP_001395336.1:p.Glu23Serfs frameshift NM_001408408.1:c.67delG NP_001395337.1:p.Glu23Serfs frameshift NM_001408409.1:c.67delG NP_001395338.1:p.Glu23Serfs frameshift NM_001408410.1:c.-194delG NM_001408411.1:c.67delG NP_001395340.1:p.Glu23Serfs frameshift NM_001408412.1:c.67delG NP_001395341.1:p.Glu23Serfs frameshift NM_001408413.1:c.67delG NP_001395342.1:p.Glu23Serfs frameshift NM_001408414.1:c.67delG NP_001395343.1:p.Glu23Serfs frameshift NM_001408415.1:c.67delG NP_001395344.1:p.Glu23Serfs frameshift NM_001408416.1:c.67delG NP_001395345.1:p.Glu23Serfs frameshift NM_001408418.1:c.67delG NP_001395347.1:p.Glu23Serfs frameshift NM_001408419.1:c.67delG NP_001395348.1:p.Glu23Serfs frameshift NM_001408420.1:c.67delG NP_001395349.1:p.Glu23Serfs frameshift NM_001408421.1:c.67delG NP_001395350.1:p.Glu23Serfs frameshift NM_001408422.1:c.67delG NP_001395351.1:p.Glu23Serfs frameshift NM_001408423.1:c.67delG NP_001395352.1:p.Glu23Serfs frameshift NM_001408424.1:c.67delG NP_001395353.1:p.Glu23Serfs frameshift NM_001408425.1:c.67delG NP_001395354.1:p.Glu23Serfs frameshift NM_001408426.1:c.67delG NP_001395355.1:p.Glu23Serfs frameshift NM_001408427.1:c.67delG NP_001395356.1:p.Glu23Serfs frameshift NM_001408428.1:c.67delG NP_001395357.1:p.Glu23Serfs frameshift NM_001408429.1:c.67delG NP_001395358.1:p.Glu23Serfs frameshift NM_001408430.1:c.67delG NP_001395359.1:p.Glu23Serfs frameshift NM_001408431.1:c.67delG NP_001395360.1:p.Glu23Serfs frameshift NM_001408432.1:c.67delG NP_001395361.1:p.Glu23Serfs frameshift NM_001408433.1:c.67delG NP_001395362.1:p.Glu23Serfs frameshift NM_001408434.1:c.67delG NP_001395363.1:p.Glu23Serfs frameshift NM_001408435.1:c.67delG NP_001395364.1:p.Glu23Serfs frameshift NM_001408436.1:c.67delG NP_001395365.1:p.Glu23Serfs frameshift NM_001408437.1:c.67delG NP_001395366.1:p.Glu23Serfs frameshift NM_001408438.1:c.67delG NP_001395367.1:p.Glu23Serfs frameshift NM_001408439.1:c.67delG NP_001395368.1:p.Glu23Serfs frameshift NM_001408440.1:c.67delG NP_001395369.1:p.Glu23Serfs frameshift NM_001408441.1:c.67delG NP_001395370.1:p.Glu23Serfs frameshift NM_001408442.1:c.67delG NP_001395371.1:p.Glu23Serfs frameshift NM_001408443.1:c.67delG NP_001395372.1:p.Glu23Serfs frameshift NM_001408444.1:c.67delG NP_001395373.1:p.Glu23Serfs frameshift NM_001408445.1:c.67delG NP_001395374.1:p.Glu23Serfs frameshift NM_001408446.1:c.67delG NP_001395375.1:p.Glu23Serfs frameshift NM_001408447.1:c.67delG NP_001395376.1:p.Glu23Serfs frameshift NM_001408448.1:c.67delG NP_001395377.1:p.Glu23Serfs frameshift NM_001408450.1:c.67delG NP_001395379.1:p.Glu23Serfs frameshift NM_001408451.1:c.67delG NP_001395380.1:p.Glu23Serfs frameshift NM_001408452.1:c.-194delG NM_001408454.1:c.-21delG NM_001408455.1:c.-191delG NM_001408456.1:c.-191delG NM_001408459.1:c.-21delG NM_001408460.1:c.-21delG NM_001408461.1:c.-21delG NM_001408462.1:c.-194delG NM_001408463.1:c.-194delG NM_001408464.1:c.-21delG NM_001408465.1:c.-195delG NM_001408466.1:c.-194delG NM_001408467.1:c.-21delG NM_001408468.1:c.-191delG NM_001408472.1:c.67delG NP_001395401.1:p.Glu23Serfs frameshift NM_001408473.1:c.67delG NP_001395402.1:p.Glu23Serfs frameshift NM_001408474.1:c.67delG NP_001395403.1:p.Glu23Serfs frameshift NM_001408475.1:c.67delG NP_001395404.1:p.Glu23Serfs frameshift NM_001408476.1:c.67delG NP_001395405.1:p.Glu23Serfs frameshift NM_001408478.1:c.-122delG NM_001408479.1:c.-122delG NM_001408480.1:c.-122delG NM_001408481.1:c.-122delG NM_001408482.1:c.-267delG NM_001408483.1:c.-122delG NM_001408484.1:c.-122delG NM_001408485.1:c.-122delG NM_001408489.1:c.-122delG NM_001408490.1:c.-122delG NM_001408491.1:c.-122delG NM_001408492.1:c.-238delG NM_001408493.1:c.-122delG NM_001408494.1:c.67delG NP_001395423.1:p.Glu23Serfs frameshift NM_001408495.1:c.67delG NP_001395424.1:p.Glu23Serfs frameshift NM_001408496.1:c.-21delG NM_001408497.1:c.-198delG NM_001408498.1:c.-21delG NM_001408499.1:c.-194delG NM_001408500.1:c.-194delG NM_001408501.1:c.-191delG NM_001408502.1:c.-122delG NM_001408503.1:c.-194delG NM_001408504.1:c.-194delG NM_001408506.1:c.-122delG NM_001408507.1:c.-122delG NM_001408508.1:c.-122delG NM_001408509.1:c.-122delG NM_001408513.1:c.-241delG NM_001408514.1:c.-122delG NM_007297.4:c.-21del 5 prime UTR NM_007298.4:c.67delG NP_009229.2:p.Glu23Serfs frameshift NM_007299.4:c.67del NP_009230.2:p.Glu23fs frameshift NM_007300.4:c.67del NP_009231.2:p.Glu23fs frameshift NM_007304.2:c.67delG NP_009235.2:p.Glu23Serfs frameshift NR_027676.2:n.269del non-coding transcript variant NC_000017.11:g.43124030del NC_000017.10:g.41276047del NG_005905.2:g.93954del LRG_292:g.93954del LRG_292t1:c.67del LRG_292p1:p.Glu23Serfs - Protein change
- E23fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43124029:C:
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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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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 | ||
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 |
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 (1) |
criteria provided, single submitter
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Mar 29, 2019 | RCV002369477.2 |
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
(Mar 29, 2019)
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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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Ambry Genetics
Accession: SCV002661843.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.67delG pathogenic mutation, located in coding exon 1 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 67, causing … (more)
The c.67delG pathogenic mutation, located in coding exon 1 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 67, causing a translational frameshift with a predicted alternate stop codon (p.E23Sfs*8). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated May 01, 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.