ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4193A>G (p.Asp1398Gly)
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.4193A>G (p.Asp1398Gly)
Variation ID: 216667 Accession: VCV000216667.21
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082568 (GRCh38) [ NCBI UCSC ] 17: 41234585 (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 16, 2017 Sep 29, 2024 Oct 6, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4193A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1398Gly missense NM_001407571.1:c.3980A>G NP_001394500.1:p.Asp1327Gly missense NM_001407581.1:c.4193A>G NP_001394510.1:p.Asp1398Gly missense NM_001407582.1:c.4193A>G NP_001394511.1:p.Asp1398Gly missense NM_001407583.1:c.4193A>G NP_001394512.1:p.Asp1398Gly missense NM_001407585.1:c.4193A>G NP_001394514.1:p.Asp1398Gly missense NM_001407587.1:c.4190A>G NP_001394516.1:p.Asp1397Gly missense NM_001407590.1:c.4190A>G NP_001394519.1:p.Asp1397Gly missense NM_001407591.1:c.4190A>G NP_001394520.1:p.Asp1397Gly missense NM_001407593.1:c.4193A>G NP_001394522.1:p.Asp1398Gly missense NM_001407594.1:c.4193A>G NP_001394523.1:p.Asp1398Gly missense NM_001407596.1:c.4193A>G NP_001394525.1:p.Asp1398Gly missense NM_001407597.1:c.4193A>G NP_001394526.1:p.Asp1398Gly missense NM_001407598.1:c.4193A>G NP_001394527.1:p.Asp1398Gly missense NM_001407602.1:c.4193A>G NP_001394531.1:p.Asp1398Gly missense NM_001407603.1:c.4193A>G NP_001394532.1:p.Asp1398Gly missense NM_001407605.1:c.4193A>G NP_001394534.1:p.Asp1398Gly missense NM_001407610.1:c.4190A>G NP_001394539.1:p.Asp1397Gly missense NM_001407611.1:c.4190A>G NP_001394540.1:p.Asp1397Gly missense NM_001407612.1:c.4190A>G NP_001394541.1:p.Asp1397Gly missense NM_001407613.1:c.4190A>G NP_001394542.1:p.Asp1397Gly missense NM_001407614.1:c.4190A>G NP_001394543.1:p.Asp1397Gly missense NM_001407615.1:c.4190A>G NP_001394544.1:p.Asp1397Gly missense NM_001407616.1:c.4193A>G NP_001394545.1:p.Asp1398Gly missense NM_001407617.1:c.4193A>G NP_001394546.1:p.Asp1398Gly missense NM_001407618.1:c.4193A>G NP_001394547.1:p.Asp1398Gly missense NM_001407619.1:c.4193A>G NP_001394548.1:p.Asp1398Gly missense NM_001407620.1:c.4193A>G NP_001394549.1:p.Asp1398Gly missense NM_001407621.1:c.4193A>G NP_001394550.1:p.Asp1398Gly missense NM_001407622.1:c.4193A>G NP_001394551.1:p.Asp1398Gly missense NM_001407623.1:c.4193A>G NP_001394552.1:p.Asp1398Gly missense NM_001407624.1:c.4190A>G NP_001394553.1:p.Asp1397Gly missense NM_001407625.1:c.4190A>G NP_001394554.1:p.Asp1397Gly missense NM_001407626.1:c.4190A>G NP_001394555.1:p.Asp1397Gly missense NM_001407627.1:c.4187A>G NP_001394556.1:p.Asp1396Gly missense NM_001407628.1:c.4187A>G NP_001394557.1:p.Asp1396Gly missense NM_001407629.1:c.4187A>G NP_001394558.1:p.Asp1396Gly missense NM_001407630.1:c.4187A>G NP_001394559.1:p.Asp1396Gly missense NM_001407631.1:c.4187A>G NP_001394560.1:p.Asp1396Gly missense NM_001407632.1:c.4187A>G NP_001394561.1:p.Asp1396Gly missense NM_001407633.1:c.4190A>G NP_001394562.1:p.Asp1397Gly missense NM_001407634.1:c.4190A>G NP_001394563.1:p.Asp1397Gly missense NM_001407635.1:c.4190A>G NP_001394564.1:p.Asp1397Gly missense NM_001407636.1:c.4190A>G NP_001394565.1:p.Asp1397Gly missense NM_001407637.1:c.4190A>G NP_001394566.1:p.Asp1397Gly missense NM_001407638.1:c.4190A>G NP_001394567.1:p.Asp1397Gly missense NM_001407639.1:c.4190A>G NP_001394568.1:p.Asp1397Gly missense NM_001407640.1:c.4190A>G NP_001394569.1:p.Asp1397Gly missense NM_001407641.1:c.4190A>G NP_001394570.1:p.Asp1397Gly missense NM_001407642.1:c.4190A>G NP_001394571.1:p.Asp1397Gly missense NM_001407644.1:c.4187A>G NP_001394573.1:p.Asp1396Gly missense NM_001407645.1:c.4187A>G NP_001394574.1:p.Asp1396Gly missense NM_001407646.1:c.4181A>G NP_001394575.1:p.Asp1394Gly missense NM_001407647.1:c.4181A>G NP_001394576.1:p.Asp1394Gly missense NM_001407648.1:c.4070A>G NP_001394577.1:p.Asp1357Gly missense NM_001407649.1:c.4067A>G NP_001394578.1:p.Asp1356Gly missense NM_001407652.1:c.4193A>G NP_001394581.1:p.Asp1398Gly missense NM_001407653.1:c.4115A>G NP_001394582.1:p.Asp1372Gly missense NM_001407654.1:c.4115A>G NP_001394583.1:p.Asp1372Gly missense NM_001407655.1:c.4115A>G NP_001394584.1:p.Asp1372Gly missense NM_001407656.1:c.4112A>G NP_001394585.1:p.Asp1371Gly missense NM_001407657.1:c.4115A>G NP_001394586.1:p.Asp1372Gly missense NM_001407658.1:c.4115A>G NP_001394587.1:p.Asp1372Gly missense NM_001407659.1:c.4109A>G NP_001394588.1:p.Asp1370Gly missense NM_001407660.1:c.4109A>G NP_001394589.1:p.Asp1370Gly missense NM_001407661.1:c.4112A>G NP_001394590.1:p.Asp1371Gly missense NM_001407662.1:c.4112A>G NP_001394591.1:p.Asp1371Gly missense NM_001407663.1:c.4112A>G NP_001394592.1:p.Asp1371Gly missense NM_001407664.1:c.4070A>G NP_001394593.1:p.Asp1357Gly missense NM_001407665.1:c.4070A>G NP_001394594.1:p.Asp1357Gly missense NM_001407666.1:c.4070A>G NP_001394595.1:p.Asp1357Gly missense NM_001407667.1:c.4070A>G NP_001394596.1:p.Asp1357Gly missense NM_001407668.1:c.4070A>G NP_001394597.1:p.Asp1357Gly missense NM_001407669.1:c.4070A>G NP_001394598.1:p.Asp1357Gly missense NM_001407670.1:c.4067A>G NP_001394599.1:p.Asp1356Gly missense NM_001407671.1:c.4067A>G NP_001394600.1:p.Asp1356Gly missense NM_001407672.1:c.4067A>G NP_001394601.1:p.Asp1356Gly missense NM_001407673.1:c.4067A>G NP_001394602.1:p.Asp1356Gly missense NM_001407674.1:c.4067A>G NP_001394603.1:p.Asp1356Gly missense NM_001407675.1:c.4067A>G NP_001394604.1:p.Asp1356Gly missense NM_001407676.1:c.4067A>G NP_001394605.1:p.Asp1356Gly missense NM_001407677.1:c.4070A>G NP_001394606.1:p.Asp1357Gly missense NM_001407678.1:c.4070A>G NP_001394607.1:p.Asp1357Gly missense NM_001407679.1:c.4070A>G NP_001394608.1:p.Asp1357Gly missense NM_001407680.1:c.4070A>G NP_001394609.1:p.Asp1357Gly missense NM_001407681.1:c.4067A>G NP_001394610.1:p.Asp1356Gly missense NM_001407682.1:c.4067A>G NP_001394611.1:p.Asp1356Gly missense NM_001407683.1:c.4067A>G NP_001394612.1:p.Asp1356Gly missense NM_001407684.1:c.4193A>G NP_001394613.1:p.Asp1398Gly missense NM_001407685.1:c.4064A>G NP_001394614.1:p.Asp1355Gly missense NM_001407686.1:c.4064A>G NP_001394615.1:p.Asp1355Gly missense NM_001407687.1:c.4064A>G NP_001394616.1:p.Asp1355Gly missense NM_001407688.1:c.4067A>G NP_001394617.1:p.Asp1356Gly missense NM_001407689.1:c.4067A>G NP_001394618.1:p.Asp1356Gly missense NM_001407690.1:c.4064A>G NP_001394619.1:p.Asp1355Gly missense NM_001407691.1:c.4064A>G NP_001394620.1:p.Asp1355Gly missense NM_001407692.1:c.4052A>G NP_001394621.1:p.Asp1351Gly missense NM_001407694.1:c.4052A>G NP_001394623.1:p.Asp1351Gly missense NM_001407695.1:c.4052A>G NP_001394624.1:p.Asp1351Gly missense NM_001407696.1:c.4052A>G NP_001394625.1:p.Asp1351Gly missense NM_001407697.1:c.4052A>G NP_001394626.1:p.Asp1351Gly missense NM_001407698.1:c.4052A>G NP_001394627.1:p.Asp1351Gly missense NM_001407724.1:c.4052A>G NP_001394653.1:p.Asp1351Gly missense NM_001407725.1:c.4052A>G NP_001394654.1:p.Asp1351Gly missense NM_001407726.1:c.4052A>G NP_001394655.1:p.Asp1351Gly missense NM_001407727.1:c.4052A>G NP_001394656.1:p.Asp1351Gly missense NM_001407728.1:c.4052A>G NP_001394657.1:p.Asp1351Gly missense NM_001407729.1:c.4052A>G NP_001394658.1:p.Asp1351Gly missense NM_001407730.1:c.4052A>G NP_001394659.1:p.Asp1351Gly missense NM_001407731.1:c.4052A>G NP_001394660.1:p.Asp1351Gly missense NM_001407732.1:c.4052A>G NP_001394661.1:p.Asp1351Gly missense NM_001407733.1:c.4052A>G NP_001394662.1:p.Asp1351Gly missense NM_001407734.1:c.4052A>G NP_001394663.1:p.Asp1351Gly missense NM_001407735.1:c.4052A>G NP_001394664.1:p.Asp1351Gly missense NM_001407736.1:c.4052A>G NP_001394665.1:p.Asp1351Gly missense NM_001407737.1:c.4052A>G NP_001394666.1:p.Asp1351Gly missense NM_001407738.1:c.4052A>G NP_001394667.1:p.Asp1351Gly missense NM_001407739.1:c.4052A>G NP_001394668.1:p.Asp1351Gly missense NM_001407740.1:c.4049A>G NP_001394669.1:p.Asp1350Gly missense NM_001407741.1:c.4049A>G NP_001394670.1:p.Asp1350Gly missense NM_001407742.1:c.4049A>G NP_001394671.1:p.Asp1350Gly missense NM_001407743.1:c.4049A>G NP_001394672.1:p.Asp1350Gly missense NM_001407744.1:c.4049A>G NP_001394673.1:p.Asp1350Gly missense NM_001407745.1:c.4049A>G NP_001394674.1:p.Asp1350Gly missense NM_001407746.1:c.4049A>G NP_001394675.1:p.Asp1350Gly missense NM_001407747.1:c.4049A>G NP_001394676.1:p.Asp1350Gly missense NM_001407748.1:c.4049A>G NP_001394677.1:p.Asp1350Gly missense NM_001407749.1:c.4049A>G NP_001394678.1:p.Asp1350Gly missense NM_001407750.1:c.4049A>G NP_001394679.1:p.Asp1350Gly missense NM_001407751.1:c.4049A>G NP_001394680.1:p.Asp1350Gly missense NM_001407752.1:c.4049A>G NP_001394681.1:p.Asp1350Gly missense NM_001407838.1:c.4049A>G NP_001394767.1:p.Asp1350Gly missense NM_001407839.1:c.4049A>G NP_001394768.1:p.Asp1350Gly missense NM_001407841.1:c.4049A>G NP_001394770.1:p.Asp1350Gly missense NM_001407842.1:c.4049A>G NP_001394771.1:p.Asp1350Gly missense NM_001407843.1:c.4049A>G NP_001394772.1:p.Asp1350Gly missense NM_001407844.1:c.4049A>G NP_001394773.1:p.Asp1350Gly missense NM_001407845.1:c.4049A>G NP_001394774.1:p.Asp1350Gly missense NM_001407846.1:c.4049A>G NP_001394775.1:p.Asp1350Gly missense NM_001407847.1:c.4046A>G NP_001394776.1:p.Asp1349Gly missense NM_001407848.1:c.4046A>G NP_001394777.1:p.Asp1349Gly missense NM_001407849.1:c.4046A>G NP_001394778.1:p.Asp1349Gly missense NM_001407850.1:c.4049A>G NP_001394779.1:p.Asp1350Gly missense NM_001407851.1:c.4049A>G NP_001394780.1:p.Asp1350Gly missense NM_001407852.1:c.4049A>G NP_001394781.1:p.Asp1350Gly missense NM_001407853.1:c.3980A>G NP_001394782.1:p.Asp1327Gly missense NM_001407854.1:c.4193A>G NP_001394783.1:p.Asp1398Gly missense NM_001407858.1:c.4193A>G NP_001394787.1:p.Asp1398Gly missense NM_001407859.1:c.4193A>G NP_001394788.1:p.Asp1398Gly missense NM_001407860.1:c.4190A>G NP_001394789.1:p.Asp1397Gly missense NM_001407861.1:c.4190A>G NP_001394790.1:p.Asp1397Gly missense NM_001407862.1:c.3992A>G NP_001394791.1:p.Asp1331Gly missense NM_001407863.1:c.4070A>G NP_001394792.1:p.Asp1357Gly missense NM_001407874.1:c.3989A>G NP_001394803.1:p.Asp1330Gly missense NM_001407875.1:c.3989A>G NP_001394804.1:p.Asp1330Gly missense NM_001407879.1:c.3983A>G NP_001394808.1:p.Asp1328Gly missense NM_001407881.1:c.3983A>G NP_001394810.1:p.Asp1328Gly missense NM_001407882.1:c.3983A>G NP_001394811.1:p.Asp1328Gly missense NM_001407884.1:c.3983A>G NP_001394813.1:p.Asp1328Gly missense NM_001407885.1:c.3983A>G NP_001394814.1:p.Asp1328Gly missense NM_001407886.1:c.3983A>G NP_001394815.1:p.Asp1328Gly missense NM_001407887.1:c.3983A>G NP_001394816.1:p.Asp1328Gly missense NM_001407889.1:c.3983A>G NP_001394818.1:p.Asp1328Gly missense NM_001407894.1:c.3980A>G NP_001394823.1:p.Asp1327Gly missense NM_001407895.1:c.3980A>G NP_001394824.1:p.Asp1327Gly missense NM_001407896.1:c.3980A>G NP_001394825.1:p.Asp1327Gly missense NM_001407897.1:c.3980A>G NP_001394826.1:p.Asp1327Gly missense NM_001407898.1:c.3980A>G NP_001394827.1:p.Asp1327Gly missense NM_001407899.1:c.3980A>G NP_001394828.1:p.Asp1327Gly missense NM_001407900.1:c.3983A>G NP_001394829.1:p.Asp1328Gly missense NM_001407902.1:c.3983A>G NP_001394831.1:p.Asp1328Gly missense NM_001407904.1:c.3983A>G NP_001394833.1:p.Asp1328Gly missense NM_001407906.1:c.3983A>G NP_001394835.1:p.Asp1328Gly missense NM_001407907.1:c.3980A>G NP_001394836.1:p.Asp1327Gly missense NM_001407908.1:c.3980A>G NP_001394837.1:p.Asp1327Gly missense NM_001407909.1:c.3980A>G NP_001394838.1:p.Asp1327Gly missense NM_001407910.1:c.3980A>G NP_001394839.1:p.Asp1327Gly missense NM_001407915.1:c.3977A>G NP_001394844.1:p.Asp1326Gly missense NM_001407916.1:c.3980A>G NP_001394845.1:p.Asp1327Gly missense NM_001407917.1:c.3980A>G NP_001394846.1:p.Asp1327Gly missense NM_001407918.1:c.3980A>G NP_001394847.1:p.Asp1327Gly missense NM_001407919.1:c.4070A>G NP_001394848.1:p.Asp1357Gly missense NM_001407920.1:c.3929A>G NP_001394849.1:p.Asp1310Gly missense NM_001407921.1:c.3929A>G NP_001394850.1:p.Asp1310Gly missense NM_001407922.1:c.3929A>G NP_001394851.1:p.Asp1310Gly missense NM_001407923.1:c.3929A>G NP_001394852.1:p.Asp1310Gly missense NM_001407924.1:c.3929A>G NP_001394853.1:p.Asp1310Gly missense NM_001407925.1:c.3929A>G NP_001394854.1:p.Asp1310Gly missense NM_001407926.1:c.3929A>G NP_001394855.1:p.Asp1310Gly missense NM_001407927.1:c.3929A>G NP_001394856.1:p.Asp1310Gly missense NM_001407928.1:c.3929A>G NP_001394857.1:p.Asp1310Gly missense NM_001407929.1:c.3929A>G NP_001394858.1:p.Asp1310Gly missense NM_001407930.1:c.3926A>G NP_001394859.1:p.Asp1309Gly missense NM_001407931.1:c.3926A>G NP_001394860.1:p.Asp1309Gly missense NM_001407932.1:c.3926A>G NP_001394861.1:p.Asp1309Gly missense NM_001407933.1:c.3926A>G NP_001394862.1:p.Asp1309Gly missense NM_001407934.1:c.3923A>G NP_001394863.1:p.Asp1308Gly missense NM_001407935.1:c.3926A>G NP_001394864.1:p.Asp1309Gly missense NM_001407936.1:c.3926A>G NP_001394865.1:p.Asp1309Gly missense NM_001407937.1:c.4070A>G NP_001394866.1:p.Asp1357Gly missense NM_001407938.1:c.4070A>G NP_001394867.1:p.Asp1357Gly missense NM_001407939.1:c.4070A>G NP_001394868.1:p.Asp1357Gly missense NM_001407940.1:c.4067A>G NP_001394869.1:p.Asp1356Gly missense NM_001407941.1:c.4067A>G NP_001394870.1:p.Asp1356Gly missense NM_001407942.1:c.4052A>G NP_001394871.1:p.Asp1351Gly missense NM_001407943.1:c.4049A>G NP_001394872.1:p.Asp1350Gly missense NM_001407944.1:c.4052A>G NP_001394873.1:p.Asp1351Gly missense NM_001407945.1:c.4052A>G NP_001394874.1:p.Asp1351Gly missense NM_001407946.1:c.3860A>G NP_001394875.1:p.Asp1287Gly missense NM_001407947.1:c.3860A>G NP_001394876.1:p.Asp1287Gly missense NM_001407948.1:c.3860A>G NP_001394877.1:p.Asp1287Gly missense NM_001407949.1:c.3860A>G NP_001394878.1:p.Asp1287Gly missense NM_001407950.1:c.3860A>G NP_001394879.1:p.Asp1287Gly missense NM_001407951.1:c.3860A>G NP_001394880.1:p.Asp1287Gly missense NM_001407952.1:c.3857A>G NP_001394881.1:p.Asp1286Gly missense NM_001407953.1:c.3857A>G NP_001394882.1:p.Asp1286Gly missense NM_001407954.1:c.3857A>G NP_001394883.1:p.Asp1286Gly missense NM_001407955.1:c.3857A>G NP_001394884.1:p.Asp1286Gly missense NM_001407956.1:c.3854A>G NP_001394885.1:p.Asp1285Gly missense NM_001407957.1:c.3857A>G NP_001394886.1:p.Asp1286Gly missense NM_001407958.1:c.3857A>G NP_001394887.1:p.Asp1286Gly missense NM_001407959.1:c.3812A>G NP_001394888.1:p.Asp1271Gly missense NM_001407960.1:c.3812A>G NP_001394889.1:p.Asp1271Gly missense NM_001407962.1:c.3809A>G NP_001394891.1:p.Asp1270Gly missense NM_001407963.1:c.3809A>G NP_001394892.1:p.Asp1270Gly missense NM_001407964.1:c.4049A>G NP_001394893.1:p.Asp1350Gly missense NM_001407965.1:c.3686A>G NP_001394894.1:p.Asp1229Gly missense NM_001407966.1:c.3305A>G NP_001394895.1:p.Asp1102Gly missense NM_001407967.1:c.3305A>G NP_001394896.1:p.Asp1102Gly missense NM_001407968.1:c.1589A>G NP_001394897.1:p.Asp530Gly missense NM_001407969.1:c.1586A>G NP_001394898.1:p.Asp529Gly missense NM_001407970.1:c.884A>G NP_001394899.1:p.Asp295Gly missense NM_001407971.1:c.884A>G NP_001394900.1:p.Asp295Gly missense NM_001407972.1:c.881A>G NP_001394901.1:p.Asp294Gly missense NM_001407973.1:c.884A>G NP_001394902.1:p.Asp295Gly missense NM_001407974.1:c.884A>G NP_001394903.1:p.Asp295Gly missense NM_001407975.1:c.884A>G NP_001394904.1:p.Asp295Gly missense NM_001407976.1:c.884A>G NP_001394905.1:p.Asp295Gly missense NM_001407977.1:c.884A>G NP_001394906.1:p.Asp295Gly missense NM_001407978.1:c.884A>G NP_001394907.1:p.Asp295Gly missense NM_001407979.1:c.881A>G NP_001394908.1:p.Asp294Gly missense NM_001407980.1:c.881A>G NP_001394909.1:p.Asp294Gly missense NM_001407981.1:c.881A>G NP_001394910.1:p.Asp294Gly missense NM_001407982.1:c.881A>G NP_001394911.1:p.Asp294Gly missense NM_001407983.1:c.881A>G NP_001394912.1:p.Asp294Gly missense NM_001407984.1:c.881A>G NP_001394913.1:p.Asp294Gly missense NM_001407985.1:c.881A>G NP_001394914.1:p.Asp294Gly missense NM_001407986.1:c.881A>G NP_001394915.1:p.Asp294Gly missense NM_001407990.1:c.881A>G NP_001394919.1:p.Asp294Gly missense NM_001407991.1:c.881A>G NP_001394920.1:p.Asp294Gly missense NM_001407992.1:c.881A>G NP_001394921.1:p.Asp294Gly missense NM_001407993.1:c.884A>G NP_001394922.1:p.Asp295Gly missense NM_001408392.1:c.881A>G NP_001395321.1:p.Asp294Gly missense NM_001408396.1:c.881A>G NP_001395325.1:p.Asp294Gly missense NM_001408397.1:c.881A>G NP_001395326.1:p.Asp294Gly missense NM_001408398.1:c.881A>G NP_001395327.1:p.Asp294Gly missense NM_001408399.1:c.881A>G NP_001395328.1:p.Asp294Gly missense NM_001408400.1:c.878A>G NP_001395329.1:p.Asp293Gly missense NM_001408401.1:c.878A>G NP_001395330.1:p.Asp293Gly missense NM_001408402.1:c.878A>G NP_001395331.1:p.Asp293Gly missense NM_001408403.1:c.881A>G NP_001395332.1:p.Asp294Gly missense NM_001408404.1:c.881A>G NP_001395333.1:p.Asp294Gly missense NM_001408406.1:c.875A>G NP_001395335.1:p.Asp292Gly missense NM_001408407.1:c.878A>G NP_001395336.1:p.Asp293Gly missense NM_001408408.1:c.875A>G NP_001395337.1:p.Asp292Gly missense NM_001408409.1:c.806A>G NP_001395338.1:p.Asp269Gly missense NM_001408410.1:c.743A>G NP_001395339.1:p.Asp248Gly missense NM_001408411.1:c.806A>G NP_001395340.1:p.Asp269Gly missense NM_001408412.1:c.806A>G NP_001395341.1:p.Asp269Gly missense NM_001408413.1:c.803A>G NP_001395342.1:p.Asp268Gly missense NM_001408414.1:c.806A>G NP_001395343.1:p.Asp269Gly missense NM_001408415.1:c.806A>G NP_001395344.1:p.Asp269Gly missense NM_001408416.1:c.803A>G NP_001395345.1:p.Asp268Gly missense NM_001408418.1:c.767A>G NP_001395347.1:p.Asp256Gly missense NM_001408419.1:c.767A>G NP_001395348.1:p.Asp256Gly missense NM_001408420.1:c.767A>G NP_001395349.1:p.Asp256Gly missense NM_001408421.1:c.764A>G NP_001395350.1:p.Asp255Gly missense NM_001408422.1:c.767A>G NP_001395351.1:p.Asp256Gly missense NM_001408423.1:c.767A>G NP_001395352.1:p.Asp256Gly missense NM_001408424.1:c.764A>G NP_001395353.1:p.Asp255Gly missense NM_001408425.1:c.761A>G NP_001395354.1:p.Asp254Gly missense NM_001408426.1:c.761A>G NP_001395355.1:p.Asp254Gly missense NM_001408427.1:c.761A>G NP_001395356.1:p.Asp254Gly missense NM_001408428.1:c.761A>G NP_001395357.1:p.Asp254Gly missense NM_001408429.1:c.761A>G NP_001395358.1:p.Asp254Gly missense NM_001408430.1:c.761A>G NP_001395359.1:p.Asp254Gly missense NM_001408431.1:c.764A>G NP_001395360.1:p.Asp255Gly missense NM_001408432.1:c.758A>G NP_001395361.1:p.Asp253Gly missense NM_001408433.1:c.758A>G NP_001395362.1:p.Asp253Gly missense NM_001408434.1:c.758A>G NP_001395363.1:p.Asp253Gly missense NM_001408435.1:c.758A>G NP_001395364.1:p.Asp253Gly missense NM_001408436.1:c.761A>G NP_001395365.1:p.Asp254Gly missense NM_001408437.1:c.761A>G NP_001395366.1:p.Asp254Gly missense NM_001408438.1:c.761A>G NP_001395367.1:p.Asp254Gly missense NM_001408439.1:c.761A>G NP_001395368.1:p.Asp254Gly missense NM_001408440.1:c.761A>G NP_001395369.1:p.Asp254Gly missense NM_001408441.1:c.758A>G NP_001395370.1:p.Asp253Gly missense NM_001408442.1:c.758A>G NP_001395371.1:p.Asp253Gly missense NM_001408443.1:c.758A>G NP_001395372.1:p.Asp253Gly missense NM_001408444.1:c.758A>G NP_001395373.1:p.Asp253Gly missense NM_001408445.1:c.758A>G NP_001395374.1:p.Asp253Gly missense NM_001408446.1:c.758A>G NP_001395375.1:p.Asp253Gly missense NM_001408447.1:c.758A>G NP_001395376.1:p.Asp253Gly missense NM_001408448.1:c.758A>G NP_001395377.1:p.Asp253Gly missense NM_001408450.1:c.758A>G NP_001395379.1:p.Asp253Gly missense NM_001408451.1:c.749A>G NP_001395380.1:p.Asp250Gly missense NM_001408452.1:c.743A>G NP_001395381.1:p.Asp248Gly missense NM_001408453.1:c.743A>G NP_001395382.1:p.Asp248Gly missense NM_001408454.1:c.743A>G NP_001395383.1:p.Asp248Gly missense NM_001408455.1:c.743A>G NP_001395384.1:p.Asp248Gly missense NM_001408456.1:c.743A>G NP_001395385.1:p.Asp248Gly missense NM_001408457.1:c.743A>G NP_001395386.1:p.Asp248Gly missense NM_001408458.1:c.743A>G NP_001395387.1:p.Asp248Gly missense NM_001408459.1:c.743A>G NP_001395388.1:p.Asp248Gly missense NM_001408460.1:c.743A>G NP_001395389.1:p.Asp248Gly missense NM_001408461.1:c.743A>G NP_001395390.1:p.Asp248Gly missense NM_001408462.1:c.740A>G NP_001395391.1:p.Asp247Gly missense NM_001408463.1:c.740A>G NP_001395392.1:p.Asp247Gly missense NM_001408464.1:c.740A>G NP_001395393.1:p.Asp247Gly missense NM_001408465.1:c.740A>G NP_001395394.1:p.Asp247Gly missense NM_001408466.1:c.740A>G NP_001395395.1:p.Asp247Gly missense NM_001408467.1:c.740A>G NP_001395396.1:p.Asp247Gly missense NM_001408468.1:c.740A>G NP_001395397.1:p.Asp247Gly missense NM_001408469.1:c.740A>G NP_001395398.1:p.Asp247Gly missense NM_001408470.1:c.737A>G NP_001395399.1:p.Asp246Gly missense NM_001408472.1:c.881A>G NP_001395401.1:p.Asp294Gly missense NM_001408473.1:c.881A>G NP_001395402.1:p.Asp294Gly missense NM_001408474.1:c.683A>G NP_001395403.1:p.Asp228Gly missense NM_001408475.1:c.680A>G NP_001395404.1:p.Asp227Gly missense NM_001408476.1:c.683A>G NP_001395405.1:p.Asp228Gly missense NM_001408478.1:c.674A>G NP_001395407.1:p.Asp225Gly missense NM_001408479.1:c.674A>G NP_001395408.1:p.Asp225Gly missense NM_001408480.1:c.674A>G NP_001395409.1:p.Asp225Gly missense NM_001408481.1:c.674A>G NP_001395410.1:p.Asp225Gly missense NM_001408482.1:c.674A>G NP_001395411.1:p.Asp225Gly missense NM_001408483.1:c.674A>G NP_001395412.1:p.Asp225Gly missense NM_001408484.1:c.674A>G NP_001395413.1:p.Asp225Gly missense NM_001408485.1:c.674A>G NP_001395414.1:p.Asp225Gly missense NM_001408489.1:c.671A>G NP_001395418.1:p.Asp224Gly missense NM_001408490.1:c.671A>G NP_001395419.1:p.Asp224Gly missense NM_001408491.1:c.671A>G NP_001395420.1:p.Asp224Gly missense NM_001408492.1:c.671A>G NP_001395421.1:p.Asp224Gly missense NM_001408493.1:c.671A>G NP_001395422.1:p.Asp224Gly missense NM_001408494.1:c.644A>G NP_001395423.1:p.Asp215Gly missense NM_001408495.1:c.641A>G NP_001395424.1:p.Asp214Gly missense NM_001408496.1:c.620A>G NP_001395425.1:p.Asp207Gly missense NM_001408497.1:c.620A>G NP_001395426.1:p.Asp207Gly missense NM_001408498.1:c.620A>G NP_001395427.1:p.Asp207Gly missense NM_001408499.1:c.620A>G NP_001395428.1:p.Asp207Gly missense NM_001408500.1:c.620A>G NP_001395429.1:p.Asp207Gly missense NM_001408501.1:c.620A>G NP_001395430.1:p.Asp207Gly missense NM_001408502.1:c.551A>G NP_001395431.1:p.Asp184Gly missense NM_001408503.1:c.617A>G NP_001395432.1:p.Asp206Gly missense NM_001408504.1:c.617A>G NP_001395433.1:p.Asp206Gly missense NM_001408505.1:c.617A>G NP_001395434.1:p.Asp206Gly missense NM_001408506.1:c.557A>G NP_001395435.1:p.Asp186Gly missense NM_001408507.1:c.554A>G NP_001395436.1:p.Asp185Gly missense NM_001408508.1:c.545A>G NP_001395437.1:p.Asp182Gly missense NM_001408509.1:c.545A>G NP_001395438.1:p.Asp182Gly missense NM_001408510.1:c.503A>G NP_001395439.1:p.Asp168Gly missense NM_001408511.1:c.500A>G NP_001395440.1:p.Asp167Gly missense NM_001408512.1:c.380A>G NP_001395441.1:p.Asp127Gly missense NM_001408513.1:c.671A>G NP_001395442.1:p.Asp224Gly missense NM_001408514.1:c.674A>G NP_001395443.1:p.Asp225Gly missense NM_007297.4:c.4052A>G NP_009228.2:p.Asp1351Gly missense NM_007298.4:c.884A>G NP_009229.2:p.Asp295Gly missense NM_007299.4:c.884A>G NP_009230.2:p.Asp295Gly missense NM_007300.4:c.4193A>G NP_009231.2:p.Asp1398Gly missense NM_007304.2:c.884A>G NP_009235.2:p.Asp295Gly missense NR_027676.2:n.4370A>G non-coding transcript variant NC_000017.11:g.43082568T>C NC_000017.10:g.41234585T>C NG_005905.2:g.135416A>G LRG_292:g.135416A>G LRG_292t1:c.4193A>G LRG_292p1:p.Asp1398Gly - Protein change
- D1398G, D295G, D1351G, D1102G, D1286G, D1287G, D1310G, D1331G, D1349G, D1372G, D182G, D184G, D206G, D224G, D228G, D248G, D268G, D127G, D1285G, D1309G, D1327G, D1330G, D1350G, D1357G, D1370G, D1394G, D1396G, D168G, D186G, D215G, D246G, D269G, D529G, D1229G, D1270G, D1271G, D1308G, D1328G, D1355G, D1356G, D1397G, D207G, D214G, D250G, D256G, D292G, D530G, D1326G, D1371G, D167G, D185G, D225G, D227G, D247G, D253G, D254G, D255G, D293G, D294G
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082567:T:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13029 | 14833 |
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. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
Sep 18, 2023 | RCV000196232.10 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Oct 5, 2023 | RCV000479135.6 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Sep 13, 2023 | RCV000570133.7 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Aug 15, 2023 | RCV002465560.3 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Oct 6, 2023 | RCV003997032.2 |
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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Uncertain significance
(Oct 05, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000570665.7
First in ClinVar: Apr 29, 2017 Last updated: Sep 29, 2024 |
Comment:
Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as … (more)
Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 4312A>G; Observed in a cohort of individuals undergoing multi-gene panel testing with an indication of unspecified personal and/or family history of cancer (Li et al., 2020); This variant is associated with the following publications: (PMID: 15343273, 22737296, 19369211, 31911673, 29884841, 32377563, 31853058) (less)
|
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Uncertain significance
(Sep 18, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000254984.6
First in ClinVar: Oct 11, 2015 Last updated: Feb 20, 2024 |
Comment:
This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which … (more)
This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1398 of the BRCA1 protein (p.Asp1398Gly). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 216667). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
|
|
Uncertain significance
(Jul 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000668445.5
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
The p.D1398G variant (also known as c.4193A>G), located in coding exon 11 of the BRCA1 gene, results from an A to G substitution at nucleotide … (more)
The p.D1398G variant (also known as c.4193A>G), located in coding exon 11 of the BRCA1 gene, results from an A to G substitution at nucleotide position 4193. The aspartic acid at codon 1398 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
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Uncertain significance
(Aug 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002760926.3
First in ClinVar: Dec 17, 2022 Last updated: Aug 18, 2023 |
|
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Uncertain significance
(Sep 13, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV004360190.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces aspartic acid with glycine at codon 1398 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant … (more)
This missense variant replaces aspartic acid with glycine at codon 1398 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been detected in a breast cancer case-control meta-analysis in 0/60466 cases and 1/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_006272). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
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Uncertain Significance
(Oct 06, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004817697.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This missense variant replaces aspartic acid with glycine at codon 1398 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant … (more)
This missense variant replaces aspartic acid with glycine at codon 1398 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been detected in a breast cancer case-control meta-analysis in 0/60466 cases and 1/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_006272). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
Number of individuals with the variant: 1
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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
HelpTitle | Author | Journal | Year | Link |
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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 |
Text-mined citations for rs761640584 ...
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.