ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4475G>A (p.Gly1492Glu)
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.4475G>A (p.Gly1492Glu)
Variation ID: 839626 Accession: VCV000839626.9
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43076497 (GRCh38) [ NCBI UCSC ] 17: 41228514 (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 15, 2020 Feb 20, 2024 Dec 8, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4475G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly1492Glu missense NM_001407571.1:c.4262G>A NP_001394500.1:p.Gly1421Glu missense NM_001407581.1:c.4541G>A NP_001394510.1:p.Gly1514Glu missense NM_001407582.1:c.4541G>A NP_001394511.1:p.Gly1514Glu missense NM_001407583.1:c.4538G>A NP_001394512.1:p.Gly1513Glu missense NM_001407585.1:c.4538G>A NP_001394514.1:p.Gly1513Glu missense NM_001407587.1:c.4538G>A NP_001394516.1:p.Gly1513Glu missense NM_001407590.1:c.4535G>A NP_001394519.1:p.Gly1512Glu missense NM_001407591.1:c.4535G>A NP_001394520.1:p.Gly1512Glu missense NM_001407593.1:c.4475G>A NP_001394522.1:p.Gly1492Glu missense NM_001407594.1:c.4475G>A NP_001394523.1:p.Gly1492Glu missense NM_001407596.1:c.4475G>A NP_001394525.1:p.Gly1492Glu missense NM_001407597.1:c.4475G>A NP_001394526.1:p.Gly1492Glu missense NM_001407598.1:c.4475G>A NP_001394527.1:p.Gly1492Glu missense NM_001407602.1:c.4475G>A NP_001394531.1:p.Gly1492Glu missense NM_001407603.1:c.4475G>A NP_001394532.1:p.Gly1492Glu missense NM_001407605.1:c.4475G>A NP_001394534.1:p.Gly1492Glu missense NM_001407610.1:c.4472G>A NP_001394539.1:p.Gly1491Glu missense NM_001407611.1:c.4472G>A NP_001394540.1:p.Gly1491Glu missense NM_001407612.1:c.4472G>A NP_001394541.1:p.Gly1491Glu missense NM_001407613.1:c.4472G>A NP_001394542.1:p.Gly1491Glu missense NM_001407614.1:c.4472G>A NP_001394543.1:p.Gly1491Glu missense NM_001407615.1:c.4472G>A NP_001394544.1:p.Gly1491Glu missense NM_001407616.1:c.4472G>A NP_001394545.1:p.Gly1491Glu missense NM_001407617.1:c.4472G>A NP_001394546.1:p.Gly1491Glu missense NM_001407618.1:c.4472G>A NP_001394547.1:p.Gly1491Glu missense NM_001407619.1:c.4472G>A NP_001394548.1:p.Gly1491Glu missense NM_001407620.1:c.4472G>A NP_001394549.1:p.Gly1491Glu missense NM_001407621.1:c.4472G>A NP_001394550.1:p.Gly1491Glu missense NM_001407622.1:c.4472G>A NP_001394551.1:p.Gly1491Glu missense NM_001407623.1:c.4472G>A NP_001394552.1:p.Gly1491Glu missense NM_001407624.1:c.4472G>A NP_001394553.1:p.Gly1491Glu missense NM_001407625.1:c.4472G>A NP_001394554.1:p.Gly1491Glu missense NM_001407626.1:c.4472G>A NP_001394555.1:p.Gly1491Glu missense NM_001407627.1:c.4469G>A NP_001394556.1:p.Gly1490Glu missense NM_001407628.1:c.4469G>A NP_001394557.1:p.Gly1490Glu missense NM_001407629.1:c.4469G>A NP_001394558.1:p.Gly1490Glu missense NM_001407630.1:c.4469G>A NP_001394559.1:p.Gly1490Glu missense NM_001407631.1:c.4469G>A NP_001394560.1:p.Gly1490Glu missense NM_001407632.1:c.4469G>A NP_001394561.1:p.Gly1490Glu missense NM_001407633.1:c.4469G>A NP_001394562.1:p.Gly1490Glu missense NM_001407634.1:c.4469G>A NP_001394563.1:p.Gly1490Glu missense NM_001407635.1:c.4469G>A NP_001394564.1:p.Gly1490Glu missense NM_001407636.1:c.4469G>A NP_001394565.1:p.Gly1490Glu missense NM_001407637.1:c.4469G>A NP_001394566.1:p.Gly1490Glu missense NM_001407638.1:c.4469G>A NP_001394567.1:p.Gly1490Glu missense NM_001407639.1:c.4469G>A NP_001394568.1:p.Gly1490Glu missense NM_001407640.1:c.4469G>A NP_001394569.1:p.Gly1490Glu missense NM_001407641.1:c.4469G>A NP_001394570.1:p.Gly1490Glu missense NM_001407642.1:c.4469G>A NP_001394571.1:p.Gly1490Glu missense NM_001407644.1:c.4466G>A NP_001394573.1:p.Gly1489Glu missense NM_001407645.1:c.4466G>A NP_001394574.1:p.Gly1489Glu missense NM_001407646.1:c.4463G>A NP_001394575.1:p.Gly1488Glu missense NM_001407647.1:c.4460G>A NP_001394576.1:p.Gly1487Glu missense NM_001407648.1:c.4418G>A NP_001394577.1:p.Gly1473Glu missense NM_001407649.1:c.4415G>A NP_001394578.1:p.Gly1472Glu missense NM_001407652.1:c.4475G>A NP_001394581.1:p.Gly1492Glu missense NM_001407653.1:c.4397G>A NP_001394582.1:p.Gly1466Glu missense NM_001407654.1:c.4397G>A NP_001394583.1:p.Gly1466Glu missense NM_001407655.1:c.4397G>A NP_001394584.1:p.Gly1466Glu missense NM_001407656.1:c.4394G>A NP_001394585.1:p.Gly1465Glu missense NM_001407657.1:c.4394G>A NP_001394586.1:p.Gly1465Glu missense NM_001407658.1:c.4394G>A NP_001394587.1:p.Gly1465Glu missense NM_001407659.1:c.4391G>A NP_001394588.1:p.Gly1464Glu missense NM_001407660.1:c.4391G>A NP_001394589.1:p.Gly1464Glu missense NM_001407661.1:c.4391G>A NP_001394590.1:p.Gly1464Glu missense NM_001407662.1:c.4391G>A NP_001394591.1:p.Gly1464Glu missense NM_001407663.1:c.4391G>A NP_001394592.1:p.Gly1464Glu missense NM_001407664.1:c.4352G>A NP_001394593.1:p.Gly1451Glu missense NM_001407665.1:c.4352G>A NP_001394594.1:p.Gly1451Glu missense NM_001407666.1:c.4352G>A NP_001394595.1:p.Gly1451Glu missense NM_001407667.1:c.4352G>A NP_001394596.1:p.Gly1451Glu missense NM_001407668.1:c.4352G>A NP_001394597.1:p.Gly1451Glu missense NM_001407669.1:c.4352G>A NP_001394598.1:p.Gly1451Glu missense NM_001407670.1:c.4349G>A NP_001394599.1:p.Gly1450Glu missense NM_001407671.1:c.4349G>A NP_001394600.1:p.Gly1450Glu missense NM_001407672.1:c.4349G>A NP_001394601.1:p.Gly1450Glu missense NM_001407673.1:c.4349G>A NP_001394602.1:p.Gly1450Glu missense NM_001407674.1:c.4349G>A NP_001394603.1:p.Gly1450Glu missense NM_001407675.1:c.4349G>A NP_001394604.1:p.Gly1450Glu missense NM_001407676.1:c.4349G>A NP_001394605.1:p.Gly1450Glu missense NM_001407677.1:c.4349G>A NP_001394606.1:p.Gly1450Glu missense NM_001407678.1:c.4349G>A NP_001394607.1:p.Gly1450Glu missense NM_001407679.1:c.4349G>A NP_001394608.1:p.Gly1450Glu missense NM_001407680.1:c.4349G>A NP_001394609.1:p.Gly1450Glu missense NM_001407681.1:c.4346G>A NP_001394610.1:p.Gly1449Glu missense NM_001407682.1:c.4346G>A NP_001394611.1:p.Gly1449Glu missense NM_001407683.1:c.4346G>A NP_001394612.1:p.Gly1449Glu missense NM_001407684.1:c.4475G>A NP_001394613.1:p.Gly1492Glu missense NM_001407685.1:c.4346G>A NP_001394614.1:p.Gly1449Glu missense NM_001407686.1:c.4346G>A NP_001394615.1:p.Gly1449Glu missense NM_001407687.1:c.4346G>A NP_001394616.1:p.Gly1449Glu missense NM_001407688.1:c.4346G>A NP_001394617.1:p.Gly1449Glu missense NM_001407689.1:c.4346G>A NP_001394618.1:p.Gly1449Glu missense NM_001407690.1:c.4343G>A NP_001394619.1:p.Gly1448Glu missense NM_001407691.1:c.4343G>A NP_001394620.1:p.Gly1448Glu missense NM_001407692.1:c.4334G>A NP_001394621.1:p.Gly1445Glu missense NM_001407694.1:c.4334G>A NP_001394623.1:p.Gly1445Glu missense NM_001407695.1:c.4334G>A NP_001394624.1:p.Gly1445Glu missense NM_001407696.1:c.4334G>A NP_001394625.1:p.Gly1445Glu missense NM_001407697.1:c.4334G>A NP_001394626.1:p.Gly1445Glu missense NM_001407698.1:c.4334G>A NP_001394627.1:p.Gly1445Glu missense NM_001407724.1:c.4334G>A NP_001394653.1:p.Gly1445Glu missense NM_001407725.1:c.4334G>A NP_001394654.1:p.Gly1445Glu missense NM_001407726.1:c.4334G>A NP_001394655.1:p.Gly1445Glu missense NM_001407727.1:c.4334G>A NP_001394656.1:p.Gly1445Glu missense NM_001407728.1:c.4334G>A NP_001394657.1:p.Gly1445Glu missense NM_001407729.1:c.4334G>A NP_001394658.1:p.Gly1445Glu missense NM_001407730.1:c.4334G>A NP_001394659.1:p.Gly1445Glu missense NM_001407731.1:c.4334G>A NP_001394660.1:p.Gly1445Glu missense NM_001407732.1:c.4331G>A NP_001394661.1:p.Gly1444Glu missense NM_001407733.1:c.4331G>A NP_001394662.1:p.Gly1444Glu missense NM_001407734.1:c.4331G>A NP_001394663.1:p.Gly1444Glu missense NM_001407735.1:c.4331G>A NP_001394664.1:p.Gly1444Glu missense NM_001407736.1:c.4331G>A NP_001394665.1:p.Gly1444Glu missense NM_001407737.1:c.4331G>A NP_001394666.1:p.Gly1444Glu missense NM_001407738.1:c.4331G>A NP_001394667.1:p.Gly1444Glu missense NM_001407739.1:c.4331G>A NP_001394668.1:p.Gly1444Glu missense NM_001407740.1:c.4331G>A NP_001394669.1:p.Gly1444Glu missense NM_001407741.1:c.4331G>A NP_001394670.1:p.Gly1444Glu missense NM_001407742.1:c.4331G>A NP_001394671.1:p.Gly1444Glu missense NM_001407743.1:c.4331G>A NP_001394672.1:p.Gly1444Glu missense NM_001407744.1:c.4331G>A NP_001394673.1:p.Gly1444Glu missense NM_001407745.1:c.4331G>A NP_001394674.1:p.Gly1444Glu missense NM_001407746.1:c.4331G>A NP_001394675.1:p.Gly1444Glu missense NM_001407747.1:c.4331G>A NP_001394676.1:p.Gly1444Glu missense NM_001407748.1:c.4331G>A NP_001394677.1:p.Gly1444Glu missense NM_001407749.1:c.4331G>A NP_001394678.1:p.Gly1444Glu missense NM_001407750.1:c.4331G>A NP_001394679.1:p.Gly1444Glu missense NM_001407751.1:c.4331G>A NP_001394680.1:p.Gly1444Glu missense NM_001407752.1:c.4331G>A NP_001394681.1:p.Gly1444Glu missense NM_001407838.1:c.4328G>A NP_001394767.1:p.Gly1443Glu missense NM_001407839.1:c.4328G>A NP_001394768.1:p.Gly1443Glu missense NM_001407841.1:c.4328G>A NP_001394770.1:p.Gly1443Glu missense NM_001407842.1:c.4328G>A NP_001394771.1:p.Gly1443Glu missense NM_001407843.1:c.4328G>A NP_001394772.1:p.Gly1443Glu missense NM_001407844.1:c.4328G>A NP_001394773.1:p.Gly1443Glu missense NM_001407845.1:c.4328G>A NP_001394774.1:p.Gly1443Glu missense NM_001407846.1:c.4328G>A NP_001394775.1:p.Gly1443Glu missense NM_001407847.1:c.4328G>A NP_001394776.1:p.Gly1443Glu missense NM_001407848.1:c.4328G>A NP_001394777.1:p.Gly1443Glu missense NM_001407849.1:c.4328G>A NP_001394778.1:p.Gly1443Glu missense NM_001407850.1:c.4328G>A NP_001394779.1:p.Gly1443Glu missense NM_001407851.1:c.4328G>A NP_001394780.1:p.Gly1443Glu missense NM_001407852.1:c.4328G>A NP_001394781.1:p.Gly1443Glu missense NM_001407853.1:c.4328G>A NP_001394782.1:p.Gly1443Glu missense NM_001407854.1:c.4475G>A NP_001394783.1:p.Gly1492Glu missense NM_001407858.1:c.4472G>A NP_001394787.1:p.Gly1491Glu missense NM_001407859.1:c.4472G>A NP_001394788.1:p.Gly1491Glu missense NM_001407860.1:c.4472G>A NP_001394789.1:p.Gly1491Glu missense NM_001407861.1:c.4469G>A NP_001394790.1:p.Gly1490Glu missense NM_001407862.1:c.4274G>A NP_001394791.1:p.Gly1425Glu missense NM_001407863.1:c.4349G>A NP_001394792.1:p.Gly1450Glu missense NM_001407874.1:c.4268G>A NP_001394803.1:p.Gly1423Glu missense NM_001407875.1:c.4268G>A NP_001394804.1:p.Gly1423Glu missense NM_001407879.1:c.4265G>A NP_001394808.1:p.Gly1422Glu missense NM_001407881.1:c.4265G>A NP_001394810.1:p.Gly1422Glu missense NM_001407882.1:c.4265G>A NP_001394811.1:p.Gly1422Glu missense NM_001407884.1:c.4265G>A NP_001394813.1:p.Gly1422Glu missense NM_001407885.1:c.4265G>A NP_001394814.1:p.Gly1422Glu missense NM_001407886.1:c.4265G>A NP_001394815.1:p.Gly1422Glu missense NM_001407887.1:c.4265G>A NP_001394816.1:p.Gly1422Glu missense NM_001407889.1:c.4265G>A NP_001394818.1:p.Gly1422Glu missense NM_001407894.1:c.4262G>A NP_001394823.1:p.Gly1421Glu missense NM_001407895.1:c.4262G>A NP_001394824.1:p.Gly1421Glu missense NM_001407896.1:c.4262G>A NP_001394825.1:p.Gly1421Glu missense NM_001407897.1:c.4262G>A NP_001394826.1:p.Gly1421Glu missense NM_001407898.1:c.4262G>A NP_001394827.1:p.Gly1421Glu missense NM_001407899.1:c.4262G>A NP_001394828.1:p.Gly1421Glu missense NM_001407900.1:c.4262G>A NP_001394829.1:p.Gly1421Glu missense NM_001407902.1:c.4262G>A NP_001394831.1:p.Gly1421Glu missense NM_001407904.1:c.4262G>A NP_001394833.1:p.Gly1421Glu missense NM_001407906.1:c.4262G>A NP_001394835.1:p.Gly1421Glu missense NM_001407907.1:c.4262G>A NP_001394836.1:p.Gly1421Glu missense NM_001407908.1:c.4262G>A NP_001394837.1:p.Gly1421Glu missense NM_001407909.1:c.4262G>A NP_001394838.1:p.Gly1421Glu missense NM_001407910.1:c.4262G>A NP_001394839.1:p.Gly1421Glu missense NM_001407915.1:c.4259G>A NP_001394844.1:p.Gly1420Glu missense NM_001407916.1:c.4259G>A NP_001394845.1:p.Gly1420Glu missense NM_001407917.1:c.4259G>A NP_001394846.1:p.Gly1420Glu missense NM_001407918.1:c.4259G>A NP_001394847.1:p.Gly1420Glu missense NM_001407919.1:c.4352G>A NP_001394848.1:p.Gly1451Glu missense NM_001407920.1:c.4211G>A NP_001394849.1:p.Gly1404Glu missense NM_001407921.1:c.4211G>A NP_001394850.1:p.Gly1404Glu missense NM_001407922.1:c.4211G>A NP_001394851.1:p.Gly1404Glu missense NM_001407923.1:c.4211G>A NP_001394852.1:p.Gly1404Glu missense NM_001407924.1:c.4211G>A NP_001394853.1:p.Gly1404Glu missense NM_001407925.1:c.4211G>A NP_001394854.1:p.Gly1404Glu missense NM_001407926.1:c.4211G>A NP_001394855.1:p.Gly1404Glu missense NM_001407927.1:c.4208G>A NP_001394856.1:p.Gly1403Glu missense NM_001407928.1:c.4208G>A NP_001394857.1:p.Gly1403Glu missense NM_001407929.1:c.4208G>A NP_001394858.1:p.Gly1403Glu missense NM_001407930.1:c.4208G>A NP_001394859.1:p.Gly1403Glu missense NM_001407931.1:c.4208G>A NP_001394860.1:p.Gly1403Glu missense NM_001407932.1:c.4208G>A NP_001394861.1:p.Gly1403Glu missense NM_001407933.1:c.4208G>A NP_001394862.1:p.Gly1403Glu missense NM_001407934.1:c.4205G>A NP_001394863.1:p.Gly1402Glu missense NM_001407935.1:c.4205G>A NP_001394864.1:p.Gly1402Glu missense NM_001407936.1:c.4205G>A NP_001394865.1:p.Gly1402Glu missense NM_001407937.1:c.4352G>A NP_001394866.1:p.Gly1451Glu missense NM_001407938.1:c.4352G>A NP_001394867.1:p.Gly1451Glu missense NM_001407939.1:c.4349G>A NP_001394868.1:p.Gly1450Glu missense NM_001407940.1:c.4349G>A NP_001394869.1:p.Gly1450Glu missense NM_001407941.1:c.4346G>A NP_001394870.1:p.Gly1449Glu missense NM_001407942.1:c.4334G>A NP_001394871.1:p.Gly1445Glu missense NM_001407943.1:c.4331G>A NP_001394872.1:p.Gly1444Glu missense NM_001407944.1:c.4331G>A NP_001394873.1:p.Gly1444Glu missense NM_001407945.1:c.4331G>A NP_001394874.1:p.Gly1444Glu missense NM_001407946.1:c.4142G>A NP_001394875.1:p.Gly1381Glu missense NM_001407947.1:c.4142G>A NP_001394876.1:p.Gly1381Glu missense NM_001407948.1:c.4142G>A NP_001394877.1:p.Gly1381Glu missense NM_001407949.1:c.4142G>A NP_001394878.1:p.Gly1381Glu missense NM_001407950.1:c.4139G>A NP_001394879.1:p.Gly1380Glu missense NM_001407951.1:c.4139G>A NP_001394880.1:p.Gly1380Glu missense NM_001407952.1:c.4139G>A NP_001394881.1:p.Gly1380Glu missense NM_001407953.1:c.4139G>A NP_001394882.1:p.Gly1380Glu missense NM_001407954.1:c.4139G>A NP_001394883.1:p.Gly1380Glu missense NM_001407955.1:c.4139G>A NP_001394884.1:p.Gly1380Glu missense NM_001407956.1:c.4136G>A NP_001394885.1:p.Gly1379Glu missense NM_001407957.1:c.4136G>A NP_001394886.1:p.Gly1379Glu missense NM_001407958.1:c.4136G>A NP_001394887.1:p.Gly1379Glu missense NM_001407959.1:c.4094G>A NP_001394888.1:p.Gly1365Glu missense NM_001407960.1:c.4091G>A NP_001394889.1:p.Gly1364Glu missense NM_001407962.1:c.4091G>A NP_001394891.1:p.Gly1364Glu missense NM_001407963.1:c.4088G>A NP_001394892.1:p.Gly1363Glu missense NM_001407965.1:c.3968G>A NP_001394894.1:p.Gly1323Glu missense NM_001407966.1:c.3587G>A NP_001394895.1:p.Gly1196Glu missense NM_001407967.1:c.3584G>A NP_001394896.1:p.Gly1195Glu missense NM_001407968.1:c.1871G>A NP_001394897.1:p.Gly624Glu missense NM_001407969.1:c.1868G>A NP_001394898.1:p.Gly623Glu missense NM_001407970.1:c.1232G>A NP_001394899.1:p.Gly411Glu missense NM_001407971.1:c.1232G>A NP_001394900.1:p.Gly411Glu missense NM_001407972.1:c.1229G>A NP_001394901.1:p.Gly410Glu missense NM_001407973.1:c.1166G>A NP_001394902.1:p.Gly389Glu missense NM_001407974.1:c.1166G>A NP_001394903.1:p.Gly389Glu missense NM_001407975.1:c.1166G>A NP_001394904.1:p.Gly389Glu missense NM_001407976.1:c.1166G>A NP_001394905.1:p.Gly389Glu missense NM_001407977.1:c.1166G>A NP_001394906.1:p.Gly389Glu missense NM_001407978.1:c.1166G>A NP_001394907.1:p.Gly389Glu missense NM_001407979.1:c.1163G>A NP_001394908.1:p.Gly388Glu missense NM_001407980.1:c.1163G>A NP_001394909.1:p.Gly388Glu missense NM_001407981.1:c.1163G>A NP_001394910.1:p.Gly388Glu missense NM_001407982.1:c.1163G>A NP_001394911.1:p.Gly388Glu missense NM_001407983.1:c.1163G>A NP_001394912.1:p.Gly388Glu missense NM_001407984.1:c.1163G>A NP_001394913.1:p.Gly388Glu missense NM_001407985.1:c.1163G>A NP_001394914.1:p.Gly388Glu missense NM_001407986.1:c.1163G>A NP_001394915.1:p.Gly388Glu missense NM_001407990.1:c.1163G>A NP_001394919.1:p.Gly388Glu missense NM_001407991.1:c.1163G>A NP_001394920.1:p.Gly388Glu missense NM_001407992.1:c.1163G>A NP_001394921.1:p.Gly388Glu missense NM_001407993.1:c.1163G>A NP_001394922.1:p.Gly388Glu missense NM_001408392.1:c.1160G>A NP_001395321.1:p.Gly387Glu missense NM_001408396.1:c.1160G>A NP_001395325.1:p.Gly387Glu missense NM_001408397.1:c.1160G>A NP_001395326.1:p.Gly387Glu missense NM_001408398.1:c.1160G>A NP_001395327.1:p.Gly387Glu missense NM_001408399.1:c.1160G>A NP_001395328.1:p.Gly387Glu missense NM_001408400.1:c.1160G>A NP_001395329.1:p.Gly387Glu missense NM_001408401.1:c.1160G>A NP_001395330.1:p.Gly387Glu missense NM_001408402.1:c.1160G>A NP_001395331.1:p.Gly387Glu missense NM_001408403.1:c.1160G>A NP_001395332.1:p.Gly387Glu missense NM_001408404.1:c.1160G>A NP_001395333.1:p.Gly387Glu missense NM_001408406.1:c.1157G>A NP_001395335.1:p.Gly386Glu missense NM_001408407.1:c.1157G>A NP_001395336.1:p.Gly386Glu missense NM_001408408.1:c.1157G>A NP_001395337.1:p.Gly386Glu missense NM_001408409.1:c.1154G>A NP_001395338.1:p.Gly385Glu missense NM_001408410.1:c.1091G>A NP_001395339.1:p.Gly364Glu missense NM_001408411.1:c.1088G>A NP_001395340.1:p.Gly363Glu missense NM_001408412.1:c.1085G>A NP_001395341.1:p.Gly362Glu missense NM_001408413.1:c.1085G>A NP_001395342.1:p.Gly362Glu missense NM_001408414.1:c.1085G>A NP_001395343.1:p.Gly362Glu missense NM_001408415.1:c.1085G>A NP_001395344.1:p.Gly362Glu missense NM_001408416.1:c.1085G>A NP_001395345.1:p.Gly362Glu missense NM_001408418.1:c.1049G>A NP_001395347.1:p.Gly350Glu missense NM_001408419.1:c.1049G>A NP_001395348.1:p.Gly350Glu missense NM_001408420.1:c.1049G>A NP_001395349.1:p.Gly350Glu missense NM_001408421.1:c.1046G>A NP_001395350.1:p.Gly349Glu missense NM_001408422.1:c.1046G>A NP_001395351.1:p.Gly349Glu missense NM_001408423.1:c.1046G>A NP_001395352.1:p.Gly349Glu missense NM_001408424.1:c.1046G>A NP_001395353.1:p.Gly349Glu missense NM_001408425.1:c.1043G>A NP_001395354.1:p.Gly348Glu missense NM_001408426.1:c.1043G>A NP_001395355.1:p.Gly348Glu missense NM_001408427.1:c.1043G>A NP_001395356.1:p.Gly348Glu missense NM_001408428.1:c.1043G>A NP_001395357.1:p.Gly348Glu missense NM_001408429.1:c.1043G>A NP_001395358.1:p.Gly348Glu missense NM_001408430.1:c.1043G>A NP_001395359.1:p.Gly348Glu missense NM_001408431.1:c.1043G>A NP_001395360.1:p.Gly348Glu missense NM_001408432.1:c.1040G>A NP_001395361.1:p.Gly347Glu missense NM_001408433.1:c.1040G>A NP_001395362.1:p.Gly347Glu missense NM_001408434.1:c.1040G>A NP_001395363.1:p.Gly347Glu missense NM_001408435.1:c.1040G>A NP_001395364.1:p.Gly347Glu missense NM_001408436.1:c.1040G>A NP_001395365.1:p.Gly347Glu missense NM_001408437.1:c.1040G>A NP_001395366.1:p.Gly347Glu missense NM_001408438.1:c.1040G>A NP_001395367.1:p.Gly347Glu missense NM_001408439.1:c.1040G>A NP_001395368.1:p.Gly347Glu missense NM_001408440.1:c.1040G>A NP_001395369.1:p.Gly347Glu missense NM_001408441.1:c.1040G>A NP_001395370.1:p.Gly347Glu missense NM_001408442.1:c.1040G>A NP_001395371.1:p.Gly347Glu missense NM_001408443.1:c.1040G>A NP_001395372.1:p.Gly347Glu missense NM_001408444.1:c.1040G>A NP_001395373.1:p.Gly347Glu missense NM_001408445.1:c.1037G>A NP_001395374.1:p.Gly346Glu missense NM_001408446.1:c.1037G>A NP_001395375.1:p.Gly346Glu missense NM_001408447.1:c.1037G>A NP_001395376.1:p.Gly346Glu missense NM_001408448.1:c.1037G>A NP_001395377.1:p.Gly346Glu missense NM_001408450.1:c.1037G>A NP_001395379.1:p.Gly346Glu missense NM_001408451.1:c.1031G>A NP_001395380.1:p.Gly344Glu missense NM_001408452.1:c.1025G>A NP_001395381.1:p.Gly342Glu missense NM_001408453.1:c.1025G>A NP_001395382.1:p.Gly342Glu missense NM_001408454.1:c.1025G>A NP_001395383.1:p.Gly342Glu missense NM_001408455.1:c.1025G>A NP_001395384.1:p.Gly342Glu missense NM_001408456.1:c.1025G>A NP_001395385.1:p.Gly342Glu missense NM_001408457.1:c.1025G>A NP_001395386.1:p.Gly342Glu missense NM_001408458.1:c.1022G>A NP_001395387.1:p.Gly341Glu missense NM_001408459.1:c.1022G>A NP_001395388.1:p.Gly341Glu missense NM_001408460.1:c.1022G>A NP_001395389.1:p.Gly341Glu missense NM_001408461.1:c.1022G>A NP_001395390.1:p.Gly341Glu missense NM_001408462.1:c.1022G>A NP_001395391.1:p.Gly341Glu missense NM_001408463.1:c.1022G>A NP_001395392.1:p.Gly341Glu missense NM_001408464.1:c.1022G>A NP_001395393.1:p.Gly341Glu missense NM_001408465.1:c.1022G>A NP_001395394.1:p.Gly341Glu missense NM_001408466.1:c.1022G>A NP_001395395.1:p.Gly341Glu missense NM_001408467.1:c.1022G>A NP_001395396.1:p.Gly341Glu missense NM_001408468.1:c.1019G>A NP_001395397.1:p.Gly340Glu missense NM_001408469.1:c.1019G>A NP_001395398.1:p.Gly340Glu missense NM_001408470.1:c.1019G>A NP_001395399.1:p.Gly340Glu missense NM_001408472.1:c.1163G>A NP_001395401.1:p.Gly388Glu missense NM_001408473.1:c.1160G>A NP_001395402.1:p.Gly387Glu missense NM_001408474.1:c.965G>A NP_001395403.1:p.Gly322Glu missense NM_001408475.1:c.962G>A NP_001395404.1:p.Gly321Glu missense NM_001408476.1:c.962G>A NP_001395405.1:p.Gly321Glu missense NM_001408478.1:c.956G>A NP_001395407.1:p.Gly319Glu missense NM_001408479.1:c.956G>A NP_001395408.1:p.Gly319Glu missense NM_001408480.1:c.956G>A NP_001395409.1:p.Gly319Glu missense NM_001408481.1:c.953G>A NP_001395410.1:p.Gly318Glu missense NM_001408482.1:c.953G>A NP_001395411.1:p.Gly318Glu missense NM_001408483.1:c.953G>A NP_001395412.1:p.Gly318Glu missense NM_001408484.1:c.953G>A NP_001395413.1:p.Gly318Glu missense NM_001408485.1:c.953G>A NP_001395414.1:p.Gly318Glu missense NM_001408489.1:c.953G>A NP_001395418.1:p.Gly318Glu missense NM_001408490.1:c.953G>A NP_001395419.1:p.Gly318Glu missense NM_001408491.1:c.953G>A NP_001395420.1:p.Gly318Glu missense NM_001408492.1:c.950G>A NP_001395421.1:p.Gly317Glu missense NM_001408493.1:c.950G>A NP_001395422.1:p.Gly317Glu missense NM_001408494.1:c.926G>A NP_001395423.1:p.Gly309Glu missense NM_001408495.1:c.920G>A NP_001395424.1:p.Gly307Glu missense NM_001408496.1:c.902G>A NP_001395425.1:p.Gly301Glu missense NM_001408497.1:c.902G>A NP_001395426.1:p.Gly301Glu missense NM_001408498.1:c.902G>A NP_001395427.1:p.Gly301Glu missense NM_001408499.1:c.902G>A NP_001395428.1:p.Gly301Glu missense NM_001408500.1:c.902G>A NP_001395429.1:p.Gly301Glu missense NM_001408501.1:c.902G>A NP_001395430.1:p.Gly301Glu missense NM_001408502.1:c.899G>A NP_001395431.1:p.Gly300Glu missense NM_001408503.1:c.899G>A NP_001395432.1:p.Gly300Glu missense NM_001408504.1:c.899G>A NP_001395433.1:p.Gly300Glu missense NM_001408505.1:c.896G>A NP_001395434.1:p.Gly299Glu missense NM_001408506.1:c.839G>A NP_001395435.1:p.Gly280Glu missense NM_001408507.1:c.836G>A NP_001395436.1:p.Gly279Glu missense NM_001408508.1:c.827G>A NP_001395437.1:p.Gly276Glu missense NM_001408509.1:c.824G>A NP_001395438.1:p.Gly275Glu missense NM_001408510.1:c.785G>A NP_001395439.1:p.Gly262Glu missense NM_001408511.1:c.782G>A NP_001395440.1:p.Gly261Glu missense NM_001408512.1:c.662G>A NP_001395441.1:p.Gly221Glu missense NM_007297.4:c.4334G>A NP_009228.2:p.Gly1445Glu missense NM_007298.4:c.1163G>A NP_009229.2:p.Gly388Glu missense NM_007299.4:c.1163G>A NP_009230.2:p.Gly388Glu missense NM_007300.4:c.4538G>A NP_009231.2:p.Gly1513Glu missense NM_007304.2:c.1163G>A NP_009235.2:p.Gly388Glu missense NR_027676.2:n.4652G>A non-coding transcript variant NC_000017.11:g.43076497C>T NC_000017.10:g.41228514C>T NG_005905.2:g.141487G>A LRG_292:g.141487G>A LRG_292t1:c.4475G>A LRG_292p1:p.Gly1492Glu - Protein change
- G1492E, G1513E, G1445E, G388E, G1195E, G1323E, G1364E, G1379E, G1425E, G1472E, G1489E, G275E, G280E, G307E, G342E, G348E, G623E, G1196E, G1365E, G1402E, G1404E, G1443E, G1448E, G1449E, G1466E, G1473E, G1488E, G1514E, G221E, G261E, G262E, G276E, G299E, G309E, G317E, G321E, G346E, G350E, G385E, G389E, G1380E, G1421E, G1422E, G1450E, G1451E, G1464E, G1465E, G1487E, G1491E, G1512E, G300E, G318E, G322E, G341E, G349E, G363E, G364E, G387E, G410E, G411E, G1363E, G1381E, G1403E, G1420E, G1423E, G1444E, G1490E, G279E, G301E, G319E, G340E, G344E, G347E, G362E, G386E, G624E
- Other names
- -
- Canonical SPDI
- NC_000017.11:43076496:C:T
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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.
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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 |
12998 | 14798 |
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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Uncertain significance (1) |
criteria provided, single submitter
|
Dec 8, 2019 | RCV001041426.7 |
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
(Dec 08, 2019)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001205042.5
First in ClinVar: Apr 15, 2020 Last updated: Feb 20, 2024 |
Comment:
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 … (more)
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. 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 C15". The glutamic acid 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 and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 1492 of the BRCA1 protein (p.Gly1492Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. (less)
|
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 rs2052719059 ...
HelpRecord last updated Jul 15, 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.