In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. This sequence change replaces valine with glycine at codon 802 of the BRCA1 protein (p.Val802Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine.
NM_007294.4(BRCA1):c.2405T>G (p.Val802Gly)
Germline
Classification
Help
criteria provided, conflicting classifications. Learn more about how ClinVar calculates review status.
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
2 out of 2 submissions contributed to this classification
Help
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.
2
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.2405T>G (p.Val802Gly)
Variation ID: 462584 Accession: VCV000462584.14
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093126 (GRCh38) [ NCBI UCSC ] 17: 41245143 (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 Dec 26, 2017 Feb 23, 2026 Mar 23, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.2405T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val802Gly missense NM_001407571.1:c.2192T>G NP_001394500.1:p.Val731Gly missense NM_001407581.1:c.2405T>G NP_001394510.1:p.Val802Gly missense NM_001407582.1:c.2405T>G NP_001394511.1:p.Val802Gly missense NM_001407583.1:c.2405T>G NP_001394512.1:p.Val802Gly missense NM_001407585.1:c.2405T>G NP_001394514.1:p.Val802Gly missense NM_001407587.1:c.2402T>G NP_001394516.1:p.Val801Gly missense NM_001407590.1:c.2402T>G NP_001394519.1:p.Val801Gly missense NM_001407591.1:c.2402T>G NP_001394520.1:p.Val801Gly missense NM_001407593.1:c.2405T>G NP_001394522.1:p.Val802Gly missense NM_001407594.1:c.2405T>G NP_001394523.1:p.Val802Gly missense NM_001407596.1:c.2405T>G NP_001394525.1:p.Val802Gly missense NM_001407597.1:c.2405T>G NP_001394526.1:p.Val802Gly missense NM_001407598.1:c.2405T>G NP_001394527.1:p.Val802Gly missense NM_001407602.1:c.2405T>G NP_001394531.1:p.Val802Gly missense NM_001407603.1:c.2405T>G NP_001394532.1:p.Val802Gly missense NM_001407605.1:c.2405T>G NP_001394534.1:p.Val802Gly missense NM_001407610.1:c.2402T>G NP_001394539.1:p.Val801Gly missense NM_001407611.1:c.2402T>G NP_001394540.1:p.Val801Gly missense NM_001407612.1:c.2402T>G NP_001394541.1:p.Val801Gly missense NM_001407613.1:c.2402T>G NP_001394542.1:p.Val801Gly missense NM_001407614.1:c.2402T>G NP_001394543.1:p.Val801Gly missense NM_001407615.1:c.2402T>G NP_001394544.1:p.Val801Gly missense NM_001407616.1:c.2405T>G NP_001394545.1:p.Val802Gly missense NM_001407617.1:c.2405T>G NP_001394546.1:p.Val802Gly missense NM_001407618.1:c.2405T>G NP_001394547.1:p.Val802Gly missense NM_001407619.1:c.2405T>G NP_001394548.1:p.Val802Gly missense NM_001407620.1:c.2405T>G NP_001394549.1:p.Val802Gly missense NM_001407621.1:c.2405T>G NP_001394550.1:p.Val802Gly missense NM_001407622.1:c.2405T>G NP_001394551.1:p.Val802Gly missense NM_001407623.1:c.2405T>G NP_001394552.1:p.Val802Gly missense NM_001407624.1:c.2405T>G NP_001394553.1:p.Val802Gly missense NM_001407625.1:c.2405T>G NP_001394554.1:p.Val802Gly missense NM_001407626.1:c.2405T>G NP_001394555.1:p.Val802Gly missense NM_001407627.1:c.2402T>G NP_001394556.1:p.Val801Gly missense NM_001407628.1:c.2402T>G NP_001394557.1:p.Val801Gly missense NM_001407629.1:c.2402T>G NP_001394558.1:p.Val801Gly missense NM_001407630.1:c.2402T>G NP_001394559.1:p.Val801Gly missense NM_001407631.1:c.2402T>G NP_001394560.1:p.Val801Gly missense NM_001407632.1:c.2402T>G NP_001394561.1:p.Val801Gly missense NM_001407633.1:c.2402T>G NP_001394562.1:p.Val801Gly missense NM_001407634.1:c.2402T>G NP_001394563.1:p.Val801Gly missense NM_001407635.1:c.2402T>G NP_001394564.1:p.Val801Gly missense NM_001407636.1:c.2402T>G NP_001394565.1:p.Val801Gly missense NM_001407637.1:c.2402T>G NP_001394566.1:p.Val801Gly missense NM_001407638.1:c.2402T>G NP_001394567.1:p.Val801Gly missense NM_001407639.1:c.2405T>G NP_001394568.1:p.Val802Gly missense NM_001407640.1:c.2405T>G NP_001394569.1:p.Val802Gly missense NM_001407641.1:c.2405T>G NP_001394570.1:p.Val802Gly missense NM_001407642.1:c.2405T>G NP_001394571.1:p.Val802Gly missense NM_001407644.1:c.2402T>G NP_001394573.1:p.Val801Gly missense NM_001407645.1:c.2402T>G NP_001394574.1:p.Val801Gly missense NM_001407646.1:c.2396T>G NP_001394575.1:p.Val799Gly missense NM_001407647.1:c.2396T>G NP_001394576.1:p.Val799Gly missense NM_001407648.1:c.2282T>G NP_001394577.1:p.Val761Gly missense NM_001407649.1:c.2279T>G NP_001394578.1:p.Val760Gly missense NM_001407652.1:c.2405T>G NP_001394581.1:p.Val802Gly missense NM_001407653.1:c.2327T>G NP_001394582.1:p.Val776Gly missense NM_001407654.1:c.2327T>G NP_001394583.1:p.Val776Gly missense NM_001407655.1:c.2327T>G NP_001394584.1:p.Val776Gly missense NM_001407656.1:c.2327T>G NP_001394585.1:p.Val776Gly missense NM_001407657.1:c.2327T>G NP_001394586.1:p.Val776Gly missense NM_001407658.1:c.2327T>G NP_001394587.1:p.Val776Gly missense NM_001407659.1:c.2324T>G NP_001394588.1:p.Val775Gly missense NM_001407660.1:c.2324T>G NP_001394589.1:p.Val775Gly missense NM_001407661.1:c.2324T>G NP_001394590.1:p.Val775Gly missense NM_001407662.1:c.2324T>G NP_001394591.1:p.Val775Gly missense NM_001407663.1:c.2327T>G NP_001394592.1:p.Val776Gly missense NM_001407664.1:c.2282T>G NP_001394593.1:p.Val761Gly missense NM_001407665.1:c.2282T>G NP_001394594.1:p.Val761Gly missense NM_001407666.1:c.2282T>G NP_001394595.1:p.Val761Gly missense NM_001407667.1:c.2282T>G NP_001394596.1:p.Val761Gly missense NM_001407668.1:c.2282T>G NP_001394597.1:p.Val761Gly missense NM_001407669.1:c.2282T>G NP_001394598.1:p.Val761Gly missense NM_001407670.1:c.2279T>G NP_001394599.1:p.Val760Gly missense NM_001407671.1:c.2279T>G NP_001394600.1:p.Val760Gly missense NM_001407672.1:c.2279T>G NP_001394601.1:p.Val760Gly missense NM_001407673.1:c.2279T>G NP_001394602.1:p.Val760Gly missense NM_001407674.1:c.2282T>G NP_001394603.1:p.Val761Gly missense NM_001407675.1:c.2282T>G NP_001394604.1:p.Val761Gly missense NM_001407676.1:c.2282T>G NP_001394605.1:p.Val761Gly missense NM_001407677.1:c.2282T>G NP_001394606.1:p.Val761Gly missense NM_001407678.1:c.2282T>G NP_001394607.1:p.Val761Gly missense NM_001407679.1:c.2282T>G NP_001394608.1:p.Val761Gly missense NM_001407680.1:c.2282T>G NP_001394609.1:p.Val761Gly missense NM_001407681.1:c.2282T>G NP_001394610.1:p.Val761Gly missense NM_001407682.1:c.2282T>G NP_001394611.1:p.Val761Gly missense NM_001407683.1:c.2282T>G NP_001394612.1:p.Val761Gly missense NM_001407684.1:c.2405T>G NP_001394613.1:p.Val802Gly missense NM_001407685.1:c.2279T>G NP_001394614.1:p.Val760Gly missense NM_001407686.1:c.2279T>G NP_001394615.1:p.Val760Gly missense NM_001407687.1:c.2279T>G NP_001394616.1:p.Val760Gly missense NM_001407688.1:c.2279T>G NP_001394617.1:p.Val760Gly missense NM_001407689.1:c.2279T>G NP_001394618.1:p.Val760Gly missense NM_001407690.1:c.2279T>G NP_001394619.1:p.Val760Gly missense NM_001407691.1:c.2279T>G NP_001394620.1:p.Val760Gly missense NM_001407692.1:c.2264T>G NP_001394621.1:p.Val755Gly missense NM_001407694.1:c.2264T>G NP_001394623.1:p.Val755Gly missense NM_001407695.1:c.2264T>G NP_001394624.1:p.Val755Gly missense NM_001407696.1:c.2264T>G NP_001394625.1:p.Val755Gly missense NM_001407697.1:c.2264T>G NP_001394626.1:p.Val755Gly missense NM_001407698.1:c.2264T>G NP_001394627.1:p.Val755Gly missense NM_001407724.1:c.2264T>G NP_001394653.1:p.Val755Gly missense NM_001407725.1:c.2264T>G NP_001394654.1:p.Val755Gly missense NM_001407726.1:c.2264T>G NP_001394655.1:p.Val755Gly missense NM_001407727.1:c.2264T>G NP_001394656.1:p.Val755Gly missense NM_001407728.1:c.2264T>G NP_001394657.1:p.Val755Gly missense NM_001407729.1:c.2264T>G NP_001394658.1:p.Val755Gly missense NM_001407730.1:c.2264T>G NP_001394659.1:p.Val755Gly missense NM_001407731.1:c.2264T>G NP_001394660.1:p.Val755Gly missense NM_001407732.1:c.2264T>G NP_001394661.1:p.Val755Gly missense NM_001407733.1:c.2264T>G NP_001394662.1:p.Val755Gly missense NM_001407734.1:c.2264T>G NP_001394663.1:p.Val755Gly missense NM_001407735.1:c.2264T>G NP_001394664.1:p.Val755Gly missense NM_001407736.1:c.2264T>G NP_001394665.1:p.Val755Gly missense NM_001407737.1:c.2264T>G NP_001394666.1:p.Val755Gly missense NM_001407738.1:c.2264T>G NP_001394667.1:p.Val755Gly missense NM_001407739.1:c.2264T>G NP_001394668.1:p.Val755Gly missense NM_001407740.1:c.2261T>G NP_001394669.1:p.Val754Gly missense NM_001407741.1:c.2261T>G NP_001394670.1:p.Val754Gly missense NM_001407742.1:c.2261T>G NP_001394671.1:p.Val754Gly missense NM_001407743.1:c.2261T>G NP_001394672.1:p.Val754Gly missense NM_001407744.1:c.2261T>G NP_001394673.1:p.Val754Gly missense NM_001407745.1:c.2261T>G NP_001394674.1:p.Val754Gly missense NM_001407746.1:c.2261T>G NP_001394675.1:p.Val754Gly missense NM_001407747.1:c.2261T>G NP_001394676.1:p.Val754Gly missense NM_001407748.1:c.2261T>G NP_001394677.1:p.Val754Gly missense NM_001407749.1:c.2261T>G NP_001394678.1:p.Val754Gly missense NM_001407750.1:c.2264T>G NP_001394679.1:p.Val755Gly missense NM_001407751.1:c.2264T>G NP_001394680.1:p.Val755Gly missense NM_001407752.1:c.2264T>G NP_001394681.1:p.Val755Gly missense NM_001407838.1:c.2261T>G NP_001394767.1:p.Val754Gly missense NM_001407839.1:c.2261T>G NP_001394768.1:p.Val754Gly missense NM_001407841.1:c.2261T>G NP_001394770.1:p.Val754Gly missense NM_001407842.1:c.2261T>G NP_001394771.1:p.Val754Gly missense NM_001407843.1:c.2261T>G NP_001394772.1:p.Val754Gly missense NM_001407844.1:c.2261T>G NP_001394773.1:p.Val754Gly missense NM_001407845.1:c.2261T>G NP_001394774.1:p.Val754Gly missense NM_001407846.1:c.2261T>G NP_001394775.1:p.Val754Gly missense NM_001407847.1:c.2261T>G NP_001394776.1:p.Val754Gly missense NM_001407848.1:c.2261T>G NP_001394777.1:p.Val754Gly missense NM_001407849.1:c.2261T>G NP_001394778.1:p.Val754Gly missense NM_001407850.1:c.2264T>G NP_001394779.1:p.Val755Gly missense NM_001407851.1:c.2264T>G NP_001394780.1:p.Val755Gly missense NM_001407852.1:c.2264T>G NP_001394781.1:p.Val755Gly missense NM_001407853.1:c.2192T>G NP_001394782.1:p.Val731Gly missense NM_001407854.1:c.2405T>G NP_001394783.1:p.Val802Gly missense NM_001407858.1:c.2405T>G NP_001394787.1:p.Val802Gly missense NM_001407859.1:c.2405T>G NP_001394788.1:p.Val802Gly missense NM_001407860.1:c.2402T>G NP_001394789.1:p.Val801Gly missense NM_001407861.1:c.2402T>G NP_001394790.1:p.Val801Gly missense NM_001407862.1:c.2204T>G NP_001394791.1:p.Val735Gly missense NM_001407863.1:c.2282T>G NP_001394792.1:p.Val761Gly missense NM_001407874.1:c.2201T>G NP_001394803.1:p.Val734Gly missense NM_001407875.1:c.2201T>G NP_001394804.1:p.Val734Gly missense NM_001407879.1:c.2195T>G NP_001394808.1:p.Val732Gly missense NM_001407881.1:c.2195T>G NP_001394810.1:p.Val732Gly missense NM_001407882.1:c.2195T>G NP_001394811.1:p.Val732Gly missense NM_001407884.1:c.2195T>G NP_001394813.1:p.Val732Gly missense NM_001407885.1:c.2195T>G NP_001394814.1:p.Val732Gly missense NM_001407886.1:c.2195T>G NP_001394815.1:p.Val732Gly missense NM_001407887.1:c.2195T>G NP_001394816.1:p.Val732Gly missense NM_001407889.1:c.2195T>G NP_001394818.1:p.Val732Gly missense NM_001407894.1:c.2192T>G NP_001394823.1:p.Val731Gly missense NM_001407895.1:c.2192T>G NP_001394824.1:p.Val731Gly missense NM_001407896.1:c.2192T>G NP_001394825.1:p.Val731Gly missense NM_001407897.1:c.2192T>G NP_001394826.1:p.Val731Gly missense NM_001407898.1:c.2192T>G NP_001394827.1:p.Val731Gly missense NM_001407899.1:c.2192T>G NP_001394828.1:p.Val731Gly missense NM_001407900.1:c.2195T>G NP_001394829.1:p.Val732Gly missense NM_001407902.1:c.2195T>G NP_001394831.1:p.Val732Gly missense NM_001407904.1:c.2195T>G NP_001394833.1:p.Val732Gly missense NM_001407906.1:c.2195T>G NP_001394835.1:p.Val732Gly missense NM_001407907.1:c.2195T>G NP_001394836.1:p.Val732Gly missense NM_001407908.1:c.2195T>G NP_001394837.1:p.Val732Gly missense NM_001407909.1:c.2195T>G NP_001394838.1:p.Val732Gly missense NM_001407910.1:c.2195T>G NP_001394839.1:p.Val732Gly missense NM_001407915.1:c.2192T>G NP_001394844.1:p.Val731Gly missense NM_001407916.1:c.2192T>G NP_001394845.1:p.Val731Gly missense NM_001407917.1:c.2192T>G NP_001394846.1:p.Val731Gly missense NM_001407918.1:c.2192T>G NP_001394847.1:p.Val731Gly missense NM_001407919.1:c.2282T>G NP_001394848.1:p.Val761Gly missense NM_001407920.1:c.2141T>G NP_001394849.1:p.Val714Gly missense NM_001407921.1:c.2141T>G NP_001394850.1:p.Val714Gly missense NM_001407922.1:c.2141T>G NP_001394851.1:p.Val714Gly missense NM_001407923.1:c.2141T>G NP_001394852.1:p.Val714Gly missense NM_001407924.1:c.2141T>G NP_001394853.1:p.Val714Gly missense NM_001407925.1:c.2141T>G NP_001394854.1:p.Val714Gly missense NM_001407926.1:c.2141T>G NP_001394855.1:p.Val714Gly missense NM_001407927.1:c.2141T>G NP_001394856.1:p.Val714Gly missense NM_001407928.1:c.2141T>G NP_001394857.1:p.Val714Gly missense NM_001407929.1:c.2141T>G NP_001394858.1:p.Val714Gly missense NM_001407930.1:c.2138T>G NP_001394859.1:p.Val713Gly missense NM_001407931.1:c.2138T>G NP_001394860.1:p.Val713Gly missense NM_001407932.1:c.2138T>G NP_001394861.1:p.Val713Gly missense NM_001407933.1:c.2141T>G NP_001394862.1:p.Val714Gly missense NM_001407934.1:c.2138T>G NP_001394863.1:p.Val713Gly missense NM_001407935.1:c.2141T>G NP_001394864.1:p.Val714Gly missense NM_001407936.1:c.2138T>G NP_001394865.1:p.Val713Gly missense NM_001407937.1:c.2282T>G NP_001394866.1:p.Val761Gly missense NM_001407938.1:c.2282T>G NP_001394867.1:p.Val761Gly missense NM_001407939.1:c.2282T>G NP_001394868.1:p.Val761Gly missense NM_001407940.1:c.2279T>G NP_001394869.1:p.Val760Gly missense NM_001407941.1:c.2279T>G NP_001394870.1:p.Val760Gly missense NM_001407942.1:c.2264T>G NP_001394871.1:p.Val755Gly missense NM_001407943.1:c.2261T>G NP_001394872.1:p.Val754Gly missense NM_001407944.1:c.2264T>G NP_001394873.1:p.Val755Gly missense NM_001407945.1:c.2264T>G NP_001394874.1:p.Val755Gly missense NM_001407946.1:c.2072T>G NP_001394875.1:p.Val691Gly missense NM_001407947.1:c.2072T>G NP_001394876.1:p.Val691Gly missense NM_001407948.1:c.2072T>G NP_001394877.1:p.Val691Gly missense NM_001407949.1:c.2072T>G NP_001394878.1:p.Val691Gly missense NM_001407950.1:c.2072T>G NP_001394879.1:p.Val691Gly missense NM_001407951.1:c.2072T>G NP_001394880.1:p.Val691Gly missense NM_001407952.1:c.2072T>G NP_001394881.1:p.Val691Gly missense NM_001407953.1:c.2072T>G NP_001394882.1:p.Val691Gly missense NM_001407954.1:c.2069T>G NP_001394883.1:p.Val690Gly missense NM_001407955.1:c.2069T>G NP_001394884.1:p.Val690Gly missense NM_001407956.1:c.2069T>G NP_001394885.1:p.Val690Gly missense NM_001407957.1:c.2072T>G NP_001394886.1:p.Val691Gly missense NM_001407958.1:c.2069T>G NP_001394887.1:p.Val690Gly missense NM_001407959.1:c.2024T>G NP_001394888.1:p.Val675Gly missense NM_001407960.1:c.2024T>G NP_001394889.1:p.Val675Gly missense NM_001407962.1:c.2021T>G NP_001394891.1:p.Val674Gly missense NM_001407963.1:c.2024T>G NP_001394892.1:p.Val675Gly missense NM_001407964.1:c.2261T>G NP_001394893.1:p.Val754Gly missense NM_001407965.1:c.1901T>G NP_001394894.1:p.Val634Gly missense NM_001407966.1:c.1517T>G NP_001394895.1:p.Val506Gly missense NM_001407967.1:c.1517T>G NP_001394896.1:p.Val506Gly missense NM_001407968.1:c.788-987T>G intron variant NM_001407969.1:c.788-987T>G intron variant NM_001407970.1:c.787+1618T>G intron variant NM_001407971.1:c.787+1618T>G intron variant NM_001407972.1:c.784+1618T>G intron variant NM_001407973.1:c.787+1618T>G intron variant NM_001407974.1:c.787+1618T>G intron variant NM_001407975.1:c.787+1618T>G intron variant NM_001407976.1:c.787+1618T>G intron variant NM_001407977.1:c.787+1618T>G intron variant NM_001407978.1:c.787+1618T>G intron variant NM_001407979.1:c.787+1618T>G intron variant NM_001407980.1:c.787+1618T>G intron variant NM_001407981.1:c.787+1618T>G intron variant NM_001407982.1:c.787+1618T>G intron variant NM_001407983.1:c.787+1618T>G intron variant NM_001407984.1:c.784+1618T>G intron variant NM_001407985.1:c.784+1618T>G intron variant NM_001407986.1:c.784+1618T>G intron variant NM_001407990.1:c.787+1618T>G intron variant NM_001407991.1:c.784+1618T>G intron variant NM_001407992.1:c.784+1618T>G intron variant NM_001407993.1:c.787+1618T>G intron variant NM_001408392.1:c.784+1618T>G intron variant NM_001408396.1:c.784+1618T>G intron variant NM_001408397.1:c.784+1618T>G intron variant NM_001408398.1:c.784+1618T>G intron variant NM_001408399.1:c.784+1618T>G intron variant NM_001408400.1:c.784+1618T>G intron variant NM_001408401.1:c.784+1618T>G intron variant NM_001408402.1:c.784+1618T>G intron variant NM_001408403.1:c.787+1618T>G intron variant NM_001408404.1:c.787+1618T>G intron variant NM_001408406.1:c.790+1615T>G intron variant NM_001408407.1:c.784+1618T>G intron variant NM_001408408.1:c.778+1618T>G intron variant NM_001408409.1:c.709+1618T>G intron variant NM_001408410.1:c.646+1618T>G intron variant NM_001408411.1:c.709+1618T>G intron variant NM_001408412.1:c.709+1618T>G intron variant NM_001408413.1:c.706+1618T>G intron variant NM_001408414.1:c.709+1618T>G intron variant NM_001408415.1:c.709+1618T>G intron variant NM_001408416.1:c.706+1618T>G intron variant NM_001408418.1:c.671-2094T>G intron variant NM_001408419.1:c.671-2094T>G intron variant NM_001408420.1:c.671-2094T>G intron variant NM_001408421.1:c.668-2094T>G intron variant NM_001408422.1:c.671-2094T>G intron variant NM_001408423.1:c.671-2094T>G intron variant NM_001408424.1:c.668-2094T>G intron variant NM_001408425.1:c.664+1618T>G intron variant NM_001408426.1:c.664+1618T>G intron variant NM_001408427.1:c.664+1618T>G intron variant NM_001408428.1:c.664+1618T>G intron variant NM_001408429.1:c.664+1618T>G intron variant NM_001408430.1:c.664+1618T>G intron variant NM_001408431.1:c.668-2094T>G intron variant NM_001408432.1:c.661+1618T>G intron variant NM_001408433.1:c.661+1618T>G intron variant NM_001408434.1:c.661+1618T>G intron variant NM_001408435.1:c.661+1618T>G intron variant NM_001408436.1:c.664+1618T>G intron variant NM_001408437.1:c.664+1618T>G intron variant NM_001408438.1:c.664+1618T>G intron variant NM_001408439.1:c.664+1618T>G intron variant NM_001408440.1:c.664+1618T>G intron variant NM_001408441.1:c.664+1618T>G intron variant NM_001408442.1:c.664+1618T>G intron variant NM_001408443.1:c.664+1618T>G intron variant NM_001408444.1:c.664+1618T>G intron variant NM_001408445.1:c.661+1618T>G intron variant NM_001408446.1:c.661+1618T>G intron variant NM_001408447.1:c.661+1618T>G intron variant NM_001408448.1:c.661+1618T>G intron variant NM_001408450.1:c.661+1618T>G intron variant NM_001408451.1:c.652+1618T>G intron variant NM_001408452.1:c.646+1618T>G intron variant NM_001408453.1:c.646+1618T>G intron variant NM_001408454.1:c.646+1618T>G intron variant NM_001408455.1:c.646+1618T>G intron variant NM_001408456.1:c.646+1618T>G intron variant NM_001408457.1:c.646+1618T>G intron variant NM_001408458.1:c.646+1618T>G intron variant NM_001408459.1:c.646+1618T>G intron variant NM_001408460.1:c.646+1618T>G intron variant NM_001408461.1:c.646+1618T>G intron variant NM_001408462.1:c.643+1618T>G intron variant NM_001408463.1:c.643+1618T>G intron variant NM_001408464.1:c.643+1618T>G intron variant NM_001408465.1:c.643+1618T>G intron variant NM_001408466.1:c.646+1618T>G intron variant NM_001408467.1:c.646+1618T>G intron variant NM_001408468.1:c.643+1618T>G intron variant NM_001408469.1:c.646+1618T>G intron variant NM_001408470.1:c.643+1618T>G intron variant NM_001408472.1:c.787+1618T>G intron variant NM_001408473.1:c.784+1618T>G intron variant NM_001408474.1:c.586+1618T>G intron variant NM_001408475.1:c.583+1618T>G intron variant NM_001408476.1:c.586+1618T>G intron variant NM_001408478.1:c.577+1618T>G intron variant NM_001408479.1:c.577+1618T>G intron variant NM_001408480.1:c.577+1618T>G intron variant NM_001408481.1:c.577+1618T>G intron variant NM_001408482.1:c.577+1618T>G intron variant NM_001408483.1:c.577+1618T>G intron variant NM_001408484.1:c.577+1618T>G intron variant NM_001408485.1:c.577+1618T>G intron variant NM_001408489.1:c.577+1618T>G intron variant NM_001408490.1:c.574+1618T>G intron variant NM_001408491.1:c.574+1618T>G intron variant NM_001408492.1:c.577+1618T>G intron variant NM_001408493.1:c.574+1618T>G intron variant NM_001408494.1:c.548-2094T>G intron variant NM_001408495.1:c.545-2094T>G intron variant NM_001408496.1:c.523+1618T>G intron variant NM_001408497.1:c.523+1618T>G intron variant NM_001408498.1:c.523+1618T>G intron variant NM_001408499.1:c.523+1618T>G intron variant NM_001408500.1:c.523+1618T>G intron variant NM_001408501.1:c.523+1618T>G intron variant NM_001408502.1:c.454+1618T>G intron variant NM_001408503.1:c.520+1618T>G intron variant NM_001408504.1:c.520+1618T>G intron variant NM_001408505.1:c.520+1618T>G intron variant NM_001408506.1:c.461-2094T>G intron variant NM_001408507.1:c.461-2094T>G intron variant NM_001408508.1:c.451+1618T>G intron variant NM_001408509.1:c.451+1618T>G intron variant NM_001408510.1:c.406+1618T>G intron variant NM_001408511.1:c.404-2094T>G intron variant NM_001408512.1:c.283+1618T>G intron variant NM_001408513.1:c.577+1618T>G intron variant NM_001408514.1:c.577+1618T>G intron variant NM_007297.4:c.2264T>G NP_009228.2:p.Val755Gly missense NM_007298.4:c.787+1618T>G intron variant NM_007299.4:c.787+1618T>G intron variant NM_007300.4:c.2405T>G NP_009231.2:p.Val802Gly missense NR_027676.1:n.2541T>G NC_000017.11:g.43093126A>C NC_000017.10:g.41245143A>C NG_005905.2:g.124858T>G LRG_292:g.124858T>G LRG_292t1:c.2405T>G LRG_292p1:p.Val802Gly - Protein change
- V802G, V755G, V506G, V675G, V734G, V754G, V634G, V674G, V713G, V714G, V731G, V801G, V690G, V691G, V760G, V761G, V799G, V732G, V735G, V775G, V776G
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093125:A:C
-
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.
- -
- 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 |
13863 | 15834 | |
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
|
Apr 10, 2020 | RCV000560561.12 | |
| Likely benign (1) |
criteria provided, single submitter
|
Mar 23, 2023 | RCV003157695.3 |
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. |
Expand all rows
Collapse all rows
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Apr 10, 2020)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Hereditary breast ovarian cancer syndrome |
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000635846.8
First in ClinVar: Dec 26, 2017 Last updated: Feb 23, 2026 |
Comment:
show
In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. This sequence change replaces valine with glycine at codon 802 of the BRCA1 protein (p.Val802Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Likely benign
(Mar 23, 2023)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Hereditary cancer-predisposing syndrome |
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003847691.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Comment:
BRCA1 coldspot (exon 11 using historical exon numbering). Reclassification based on statistical prior probability
|
Comment:
show
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). (less)
Observation: 1
Collection method: curation
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: curation
Allele origin: germline
Affected status: unknown
|
|
Comment:
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
Text-mined citations for rs1555589737 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Feb 24, 2026
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.