The missense variant c.4729T>G (Ser1577Ala) is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. There is a moderate physicochemical difference between serine and alanine. The variant is predicted to be tolerated by both SIFT or PolyPhen2. For the insufficient evidences, this variant has been classified as variant of uncertain significance.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4729T>G (p.Ser1577Ala)
Germline
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.
(1)
Help
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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4729T>G (p.Ser1577Ala)
Variation ID: 981650 Accession: VCV000981650.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071185 (GRCh38) [ NCBI UCSC ] 17: 41223202 (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 Oct 23, 2020 Oct 23, 2020 Oct 19, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4729T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1577Ala missense NM_001407571.1:c.4516T>G NP_001394500.1:p.Ser1506Ala missense NM_001407581.1:c.4795T>G NP_001394510.1:p.Ser1599Ala missense NM_001407582.1:c.4795T>G NP_001394511.1:p.Ser1599Ala missense NM_001407583.1:c.4792T>G NP_001394512.1:p.Ser1598Ala missense NM_001407585.1:c.4792T>G NP_001394514.1:p.Ser1598Ala missense NM_001407587.1:c.4792T>G NP_001394516.1:p.Ser1598Ala missense NM_001407590.1:c.4789T>G NP_001394519.1:p.Ser1597Ala missense NM_001407591.1:c.4789T>G NP_001394520.1:p.Ser1597Ala missense NM_001407593.1:c.4729T>G NP_001394522.1:p.Ser1577Ala missense NM_001407594.1:c.4729T>G NP_001394523.1:p.Ser1577Ala missense NM_001407596.1:c.4729T>G NP_001394525.1:p.Ser1577Ala missense NM_001407597.1:c.4729T>G NP_001394526.1:p.Ser1577Ala missense NM_001407598.1:c.4729T>G NP_001394527.1:p.Ser1577Ala missense NM_001407602.1:c.4729T>G NP_001394531.1:p.Ser1577Ala missense NM_001407603.1:c.4729T>G NP_001394532.1:p.Ser1577Ala missense NM_001407605.1:c.4729T>G NP_001394534.1:p.Ser1577Ala missense NM_001407610.1:c.4726T>G NP_001394539.1:p.Ser1576Ala missense NM_001407611.1:c.4726T>G NP_001394540.1:p.Ser1576Ala missense NM_001407612.1:c.4726T>G NP_001394541.1:p.Ser1576Ala missense NM_001407613.1:c.4726T>G NP_001394542.1:p.Ser1576Ala missense NM_001407614.1:c.4726T>G NP_001394543.1:p.Ser1576Ala missense NM_001407615.1:c.4726T>G NP_001394544.1:p.Ser1576Ala missense NM_001407616.1:c.4726T>G NP_001394545.1:p.Ser1576Ala missense NM_001407617.1:c.4726T>G NP_001394546.1:p.Ser1576Ala missense NM_001407618.1:c.4726T>G NP_001394547.1:p.Ser1576Ala missense NM_001407619.1:c.4726T>G NP_001394548.1:p.Ser1576Ala missense NM_001407620.1:c.4726T>G NP_001394549.1:p.Ser1576Ala missense NM_001407621.1:c.4726T>G NP_001394550.1:p.Ser1576Ala missense NM_001407622.1:c.4726T>G NP_001394551.1:p.Ser1576Ala missense NM_001407623.1:c.4726T>G NP_001394552.1:p.Ser1576Ala missense NM_001407624.1:c.4726T>G NP_001394553.1:p.Ser1576Ala missense NM_001407625.1:c.4726T>G NP_001394554.1:p.Ser1576Ala missense NM_001407626.1:c.4726T>G NP_001394555.1:p.Ser1576Ala missense NM_001407627.1:c.4723T>G NP_001394556.1:p.Ser1575Ala missense NM_001407628.1:c.4723T>G NP_001394557.1:p.Ser1575Ala missense NM_001407629.1:c.4723T>G NP_001394558.1:p.Ser1575Ala missense NM_001407630.1:c.4723T>G NP_001394559.1:p.Ser1575Ala missense NM_001407631.1:c.4723T>G NP_001394560.1:p.Ser1575Ala missense NM_001407632.1:c.4723T>G NP_001394561.1:p.Ser1575Ala missense NM_001407633.1:c.4723T>G NP_001394562.1:p.Ser1575Ala missense NM_001407634.1:c.4723T>G NP_001394563.1:p.Ser1575Ala missense NM_001407635.1:c.4723T>G NP_001394564.1:p.Ser1575Ala missense NM_001407636.1:c.4723T>G NP_001394565.1:p.Ser1575Ala missense NM_001407637.1:c.4723T>G NP_001394566.1:p.Ser1575Ala missense NM_001407638.1:c.4723T>G NP_001394567.1:p.Ser1575Ala missense NM_001407639.1:c.4723T>G NP_001394568.1:p.Ser1575Ala missense NM_001407640.1:c.4723T>G NP_001394569.1:p.Ser1575Ala missense NM_001407641.1:c.4723T>G NP_001394570.1:p.Ser1575Ala missense NM_001407642.1:c.4723T>G NP_001394571.1:p.Ser1575Ala missense NM_001407644.1:c.4720T>G NP_001394573.1:p.Ser1574Ala missense NM_001407645.1:c.4720T>G NP_001394574.1:p.Ser1574Ala missense NM_001407646.1:c.4717T>G NP_001394575.1:p.Ser1573Ala missense NM_001407647.1:c.4714T>G NP_001394576.1:p.Ser1572Ala missense NM_001407648.1:c.4672T>G NP_001394577.1:p.Ser1558Ala missense NM_001407649.1:c.4669T>G NP_001394578.1:p.Ser1557Ala missense NM_001407652.1:c.4729T>G NP_001394581.1:p.Ser1577Ala missense NM_001407653.1:c.4651T>G NP_001394582.1:p.Ser1551Ala missense NM_001407654.1:c.4651T>G NP_001394583.1:p.Ser1551Ala missense NM_001407655.1:c.4651T>G NP_001394584.1:p.Ser1551Ala missense NM_001407656.1:c.4648T>G NP_001394585.1:p.Ser1550Ala missense NM_001407657.1:c.4648T>G NP_001394586.1:p.Ser1550Ala missense NM_001407658.1:c.4648T>G NP_001394587.1:p.Ser1550Ala missense NM_001407659.1:c.4645T>G NP_001394588.1:p.Ser1549Ala missense NM_001407660.1:c.4645T>G NP_001394589.1:p.Ser1549Ala missense NM_001407661.1:c.4645T>G NP_001394590.1:p.Ser1549Ala missense NM_001407662.1:c.4645T>G NP_001394591.1:p.Ser1549Ala missense NM_001407663.1:c.4645T>G NP_001394592.1:p.Ser1549Ala missense NM_001407664.1:c.4606T>G NP_001394593.1:p.Ser1536Ala missense NM_001407665.1:c.4606T>G NP_001394594.1:p.Ser1536Ala missense NM_001407666.1:c.4606T>G NP_001394595.1:p.Ser1536Ala missense NM_001407667.1:c.4606T>G NP_001394596.1:p.Ser1536Ala missense NM_001407668.1:c.4606T>G NP_001394597.1:p.Ser1536Ala missense NM_001407669.1:c.4606T>G NP_001394598.1:p.Ser1536Ala missense NM_001407670.1:c.4603T>G NP_001394599.1:p.Ser1535Ala missense NM_001407671.1:c.4603T>G NP_001394600.1:p.Ser1535Ala missense NM_001407672.1:c.4603T>G NP_001394601.1:p.Ser1535Ala missense NM_001407673.1:c.4603T>G NP_001394602.1:p.Ser1535Ala missense NM_001407674.1:c.4603T>G NP_001394603.1:p.Ser1535Ala missense NM_001407675.1:c.4603T>G NP_001394604.1:p.Ser1535Ala missense NM_001407676.1:c.4603T>G NP_001394605.1:p.Ser1535Ala missense NM_001407677.1:c.4603T>G NP_001394606.1:p.Ser1535Ala missense NM_001407678.1:c.4603T>G NP_001394607.1:p.Ser1535Ala missense NM_001407679.1:c.4603T>G NP_001394608.1:p.Ser1535Ala missense NM_001407680.1:c.4603T>G NP_001394609.1:p.Ser1535Ala missense NM_001407681.1:c.4600T>G NP_001394610.1:p.Ser1534Ala missense NM_001407682.1:c.4600T>G NP_001394611.1:p.Ser1534Ala missense NM_001407683.1:c.4600T>G NP_001394612.1:p.Ser1534Ala missense NM_001407684.1:c.4729T>G NP_001394613.1:p.Ser1577Ala missense NM_001407685.1:c.4600T>G NP_001394614.1:p.Ser1534Ala missense NM_001407686.1:c.4600T>G NP_001394615.1:p.Ser1534Ala missense NM_001407687.1:c.4600T>G NP_001394616.1:p.Ser1534Ala missense NM_001407688.1:c.4600T>G NP_001394617.1:p.Ser1534Ala missense NM_001407689.1:c.4600T>G NP_001394618.1:p.Ser1534Ala missense NM_001407690.1:c.4597T>G NP_001394619.1:p.Ser1533Ala missense NM_001407691.1:c.4597T>G NP_001394620.1:p.Ser1533Ala missense NM_001407692.1:c.4588T>G NP_001394621.1:p.Ser1530Ala missense NM_001407694.1:c.4588T>G NP_001394623.1:p.Ser1530Ala missense NM_001407695.1:c.4588T>G NP_001394624.1:p.Ser1530Ala missense NM_001407696.1:c.4588T>G NP_001394625.1:p.Ser1530Ala missense NM_001407697.1:c.4588T>G NP_001394626.1:p.Ser1530Ala missense NM_001407698.1:c.4588T>G NP_001394627.1:p.Ser1530Ala missense NM_001407724.1:c.4588T>G NP_001394653.1:p.Ser1530Ala missense NM_001407725.1:c.4588T>G NP_001394654.1:p.Ser1530Ala missense NM_001407726.1:c.4588T>G NP_001394655.1:p.Ser1530Ala missense NM_001407727.1:c.4588T>G NP_001394656.1:p.Ser1530Ala missense NM_001407728.1:c.4588T>G NP_001394657.1:p.Ser1530Ala missense NM_001407729.1:c.4588T>G NP_001394658.1:p.Ser1530Ala missense NM_001407730.1:c.4588T>G NP_001394659.1:p.Ser1530Ala missense NM_001407731.1:c.4588T>G NP_001394660.1:p.Ser1530Ala missense NM_001407732.1:c.4585T>G NP_001394661.1:p.Ser1529Ala missense NM_001407733.1:c.4585T>G NP_001394662.1:p.Ser1529Ala missense NM_001407734.1:c.4585T>G NP_001394663.1:p.Ser1529Ala missense NM_001407735.1:c.4585T>G NP_001394664.1:p.Ser1529Ala missense NM_001407736.1:c.4585T>G NP_001394665.1:p.Ser1529Ala missense NM_001407737.1:c.4585T>G NP_001394666.1:p.Ser1529Ala missense NM_001407738.1:c.4585T>G NP_001394667.1:p.Ser1529Ala missense NM_001407739.1:c.4585T>G NP_001394668.1:p.Ser1529Ala missense NM_001407740.1:c.4585T>G NP_001394669.1:p.Ser1529Ala missense NM_001407741.1:c.4585T>G NP_001394670.1:p.Ser1529Ala missense NM_001407742.1:c.4585T>G NP_001394671.1:p.Ser1529Ala missense NM_001407743.1:c.4585T>G NP_001394672.1:p.Ser1529Ala missense NM_001407744.1:c.4585T>G NP_001394673.1:p.Ser1529Ala missense NM_001407745.1:c.4585T>G NP_001394674.1:p.Ser1529Ala missense NM_001407746.1:c.4585T>G NP_001394675.1:p.Ser1529Ala missense NM_001407747.1:c.4585T>G NP_001394676.1:p.Ser1529Ala missense NM_001407748.1:c.4585T>G NP_001394677.1:p.Ser1529Ala missense NM_001407749.1:c.4585T>G NP_001394678.1:p.Ser1529Ala missense NM_001407750.1:c.4585T>G NP_001394679.1:p.Ser1529Ala missense NM_001407751.1:c.4585T>G NP_001394680.1:p.Ser1529Ala missense NM_001407752.1:c.4585T>G NP_001394681.1:p.Ser1529Ala missense NM_001407838.1:c.4582T>G NP_001394767.1:p.Ser1528Ala missense NM_001407839.1:c.4582T>G NP_001394768.1:p.Ser1528Ala missense NM_001407841.1:c.4582T>G NP_001394770.1:p.Ser1528Ala missense NM_001407842.1:c.4582T>G NP_001394771.1:p.Ser1528Ala missense NM_001407843.1:c.4582T>G NP_001394772.1:p.Ser1528Ala missense NM_001407844.1:c.4582T>G NP_001394773.1:p.Ser1528Ala missense NM_001407845.1:c.4582T>G NP_001394774.1:p.Ser1528Ala missense NM_001407846.1:c.4582T>G NP_001394775.1:p.Ser1528Ala missense NM_001407847.1:c.4582T>G NP_001394776.1:p.Ser1528Ala missense NM_001407848.1:c.4582T>G NP_001394777.1:p.Ser1528Ala missense NM_001407849.1:c.4582T>G NP_001394778.1:p.Ser1528Ala missense NM_001407850.1:c.4582T>G NP_001394779.1:p.Ser1528Ala missense NM_001407851.1:c.4582T>G NP_001394780.1:p.Ser1528Ala missense NM_001407852.1:c.4582T>G NP_001394781.1:p.Ser1528Ala missense NM_001407853.1:c.4582T>G NP_001394782.1:p.Ser1528Ala missense NM_001407854.1:c.4729T>G NP_001394783.1:p.Ser1577Ala missense NM_001407858.1:c.4726T>G NP_001394787.1:p.Ser1576Ala missense NM_001407859.1:c.4726T>G NP_001394788.1:p.Ser1576Ala missense NM_001407860.1:c.4726T>G NP_001394789.1:p.Ser1576Ala missense NM_001407861.1:c.4723T>G NP_001394790.1:p.Ser1575Ala missense NM_001407862.1:c.4528T>G NP_001394791.1:p.Ser1510Ala missense NM_001407863.1:c.4603T>G NP_001394792.1:p.Ser1535Ala missense NM_001407874.1:c.4522T>G NP_001394803.1:p.Ser1508Ala missense NM_001407875.1:c.4522T>G NP_001394804.1:p.Ser1508Ala missense NM_001407879.1:c.4519T>G NP_001394808.1:p.Ser1507Ala missense NM_001407881.1:c.4519T>G NP_001394810.1:p.Ser1507Ala missense NM_001407882.1:c.4519T>G NP_001394811.1:p.Ser1507Ala missense NM_001407884.1:c.4519T>G NP_001394813.1:p.Ser1507Ala missense NM_001407885.1:c.4519T>G NP_001394814.1:p.Ser1507Ala missense NM_001407886.1:c.4519T>G NP_001394815.1:p.Ser1507Ala missense NM_001407887.1:c.4519T>G NP_001394816.1:p.Ser1507Ala missense NM_001407889.1:c.4519T>G NP_001394818.1:p.Ser1507Ala missense NM_001407894.1:c.4516T>G NP_001394823.1:p.Ser1506Ala missense NM_001407895.1:c.4516T>G NP_001394824.1:p.Ser1506Ala missense NM_001407896.1:c.4516T>G NP_001394825.1:p.Ser1506Ala missense NM_001407897.1:c.4516T>G NP_001394826.1:p.Ser1506Ala missense NM_001407898.1:c.4516T>G NP_001394827.1:p.Ser1506Ala missense NM_001407899.1:c.4516T>G NP_001394828.1:p.Ser1506Ala missense NM_001407900.1:c.4516T>G NP_001394829.1:p.Ser1506Ala missense NM_001407902.1:c.4516T>G NP_001394831.1:p.Ser1506Ala missense NM_001407904.1:c.4516T>G NP_001394833.1:p.Ser1506Ala missense NM_001407906.1:c.4516T>G NP_001394835.1:p.Ser1506Ala missense NM_001407907.1:c.4516T>G NP_001394836.1:p.Ser1506Ala missense NM_001407908.1:c.4516T>G NP_001394837.1:p.Ser1506Ala missense NM_001407909.1:c.4516T>G NP_001394838.1:p.Ser1506Ala missense NM_001407910.1:c.4516T>G NP_001394839.1:p.Ser1506Ala missense NM_001407915.1:c.4513T>G NP_001394844.1:p.Ser1505Ala missense NM_001407916.1:c.4513T>G NP_001394845.1:p.Ser1505Ala missense NM_001407917.1:c.4513T>G NP_001394846.1:p.Ser1505Ala missense NM_001407918.1:c.4513T>G NP_001394847.1:p.Ser1505Ala missense NM_001407919.1:c.4606T>G NP_001394848.1:p.Ser1536Ala missense NM_001407920.1:c.4465T>G NP_001394849.1:p.Ser1489Ala missense NM_001407921.1:c.4465T>G NP_001394850.1:p.Ser1489Ala missense NM_001407922.1:c.4465T>G NP_001394851.1:p.Ser1489Ala missense NM_001407923.1:c.4465T>G NP_001394852.1:p.Ser1489Ala missense NM_001407924.1:c.4465T>G NP_001394853.1:p.Ser1489Ala missense NM_001407925.1:c.4465T>G NP_001394854.1:p.Ser1489Ala missense NM_001407926.1:c.4465T>G NP_001394855.1:p.Ser1489Ala missense NM_001407927.1:c.4462T>G NP_001394856.1:p.Ser1488Ala missense NM_001407928.1:c.4462T>G NP_001394857.1:p.Ser1488Ala missense NM_001407929.1:c.4462T>G NP_001394858.1:p.Ser1488Ala missense NM_001407930.1:c.4462T>G NP_001394859.1:p.Ser1488Ala missense NM_001407931.1:c.4462T>G NP_001394860.1:p.Ser1488Ala missense NM_001407932.1:c.4462T>G NP_001394861.1:p.Ser1488Ala missense NM_001407933.1:c.4462T>G NP_001394862.1:p.Ser1488Ala missense NM_001407934.1:c.4459T>G NP_001394863.1:p.Ser1487Ala missense NM_001407935.1:c.4459T>G NP_001394864.1:p.Ser1487Ala missense NM_001407936.1:c.4459T>G NP_001394865.1:p.Ser1487Ala missense NM_001407937.1:c.4606T>G NP_001394866.1:p.Ser1536Ala missense NM_001407938.1:c.4606T>G NP_001394867.1:p.Ser1536Ala missense NM_001407939.1:c.4603T>G NP_001394868.1:p.Ser1535Ala missense NM_001407940.1:c.4603T>G NP_001394869.1:p.Ser1535Ala missense NM_001407941.1:c.4600T>G NP_001394870.1:p.Ser1534Ala missense NM_001407942.1:c.4588T>G NP_001394871.1:p.Ser1530Ala missense NM_001407943.1:c.4585T>G NP_001394872.1:p.Ser1529Ala missense NM_001407944.1:c.4585T>G NP_001394873.1:p.Ser1529Ala missense NM_001407945.1:c.4585T>G NP_001394874.1:p.Ser1529Ala missense NM_001407946.1:c.4396T>G NP_001394875.1:p.Ser1466Ala missense NM_001407947.1:c.4396T>G NP_001394876.1:p.Ser1466Ala missense NM_001407948.1:c.4396T>G NP_001394877.1:p.Ser1466Ala missense NM_001407949.1:c.4396T>G NP_001394878.1:p.Ser1466Ala missense NM_001407950.1:c.4393T>G NP_001394879.1:p.Ser1465Ala missense NM_001407951.1:c.4393T>G NP_001394880.1:p.Ser1465Ala missense NM_001407952.1:c.4393T>G NP_001394881.1:p.Ser1465Ala missense NM_001407953.1:c.4393T>G NP_001394882.1:p.Ser1465Ala missense NM_001407954.1:c.4393T>G NP_001394883.1:p.Ser1465Ala missense NM_001407955.1:c.4393T>G NP_001394884.1:p.Ser1465Ala missense NM_001407956.1:c.4390T>G NP_001394885.1:p.Ser1464Ala missense NM_001407957.1:c.4390T>G NP_001394886.1:p.Ser1464Ala missense NM_001407958.1:c.4390T>G NP_001394887.1:p.Ser1464Ala missense NM_001407959.1:c.4348T>G NP_001394888.1:p.Ser1450Ala missense NM_001407960.1:c.4345T>G NP_001394889.1:p.Ser1449Ala missense NM_001407962.1:c.4345T>G NP_001394891.1:p.Ser1449Ala missense NM_001407963.1:c.4342T>G NP_001394892.1:p.Ser1448Ala missense NM_001407964.1:c.4267T>G NP_001394893.1:p.Ser1423Ala missense NM_001407965.1:c.4222T>G NP_001394894.1:p.Ser1408Ala missense NM_001407966.1:c.3841T>G NP_001394895.1:p.Ser1281Ala missense NM_001407967.1:c.3838T>G NP_001394896.1:p.Ser1280Ala missense NM_001407968.1:c.2125T>G NP_001394897.1:p.Ser709Ala missense NM_001407969.1:c.2122T>G NP_001394898.1:p.Ser708Ala missense NM_001407970.1:c.1486T>G NP_001394899.1:p.Ser496Ala missense NM_001407971.1:c.1486T>G NP_001394900.1:p.Ser496Ala missense NM_001407972.1:c.1483T>G NP_001394901.1:p.Ser495Ala missense NM_001407973.1:c.1420T>G NP_001394902.1:p.Ser474Ala missense NM_001407974.1:c.1420T>G NP_001394903.1:p.Ser474Ala missense NM_001407975.1:c.1420T>G NP_001394904.1:p.Ser474Ala missense NM_001407976.1:c.1420T>G NP_001394905.1:p.Ser474Ala missense NM_001407977.1:c.1420T>G NP_001394906.1:p.Ser474Ala missense NM_001407978.1:c.1420T>G NP_001394907.1:p.Ser474Ala missense NM_001407979.1:c.1417T>G NP_001394908.1:p.Ser473Ala missense NM_001407980.1:c.1417T>G NP_001394909.1:p.Ser473Ala missense NM_001407981.1:c.1417T>G NP_001394910.1:p.Ser473Ala missense NM_001407982.1:c.1417T>G NP_001394911.1:p.Ser473Ala missense NM_001407983.1:c.1417T>G NP_001394912.1:p.Ser473Ala missense NM_001407984.1:c.1417T>G NP_001394913.1:p.Ser473Ala missense NM_001407985.1:c.1417T>G NP_001394914.1:p.Ser473Ala missense NM_001407986.1:c.1417T>G NP_001394915.1:p.Ser473Ala missense NM_001407990.1:c.1417T>G NP_001394919.1:p.Ser473Ala missense NM_001407991.1:c.1417T>G NP_001394920.1:p.Ser473Ala missense NM_001407992.1:c.1417T>G NP_001394921.1:p.Ser473Ala missense NM_001407993.1:c.1417T>G NP_001394922.1:p.Ser473Ala missense NM_001408392.1:c.1414T>G NP_001395321.1:p.Ser472Ala missense NM_001408396.1:c.1414T>G NP_001395325.1:p.Ser472Ala missense NM_001408397.1:c.1414T>G NP_001395326.1:p.Ser472Ala missense NM_001408398.1:c.1414T>G NP_001395327.1:p.Ser472Ala missense NM_001408399.1:c.1414T>G NP_001395328.1:p.Ser472Ala missense NM_001408400.1:c.1414T>G NP_001395329.1:p.Ser472Ala missense NM_001408401.1:c.1414T>G NP_001395330.1:p.Ser472Ala missense NM_001408402.1:c.1414T>G NP_001395331.1:p.Ser472Ala missense NM_001408403.1:c.1414T>G NP_001395332.1:p.Ser472Ala missense NM_001408404.1:c.1414T>G NP_001395333.1:p.Ser472Ala missense NM_001408406.1:c.1411T>G NP_001395335.1:p.Ser471Ala missense NM_001408407.1:c.1411T>G NP_001395336.1:p.Ser471Ala missense NM_001408408.1:c.1411T>G NP_001395337.1:p.Ser471Ala missense NM_001408409.1:c.1408T>G NP_001395338.1:p.Ser470Ala missense NM_001408410.1:c.1345T>G NP_001395339.1:p.Ser449Ala missense NM_001408411.1:c.1342T>G NP_001395340.1:p.Ser448Ala missense NM_001408412.1:c.1339T>G NP_001395341.1:p.Ser447Ala missense NM_001408413.1:c.1339T>G NP_001395342.1:p.Ser447Ala missense NM_001408414.1:c.1339T>G NP_001395343.1:p.Ser447Ala missense NM_001408415.1:c.1339T>G NP_001395344.1:p.Ser447Ala missense NM_001408416.1:c.1339T>G NP_001395345.1:p.Ser447Ala missense NM_001408418.1:c.1303T>G NP_001395347.1:p.Ser435Ala missense NM_001408419.1:c.1303T>G NP_001395348.1:p.Ser435Ala missense NM_001408420.1:c.1303T>G NP_001395349.1:p.Ser435Ala missense NM_001408421.1:c.1300T>G NP_001395350.1:p.Ser434Ala missense NM_001408422.1:c.1300T>G NP_001395351.1:p.Ser434Ala missense NM_001408423.1:c.1300T>G NP_001395352.1:p.Ser434Ala missense NM_001408424.1:c.1300T>G NP_001395353.1:p.Ser434Ala missense NM_001408425.1:c.1297T>G NP_001395354.1:p.Ser433Ala missense NM_001408426.1:c.1297T>G NP_001395355.1:p.Ser433Ala missense NM_001408427.1:c.1297T>G NP_001395356.1:p.Ser433Ala missense NM_001408428.1:c.1297T>G NP_001395357.1:p.Ser433Ala missense NM_001408429.1:c.1297T>G NP_001395358.1:p.Ser433Ala missense NM_001408430.1:c.1297T>G NP_001395359.1:p.Ser433Ala missense NM_001408431.1:c.1297T>G NP_001395360.1:p.Ser433Ala missense NM_001408432.1:c.1294T>G NP_001395361.1:p.Ser432Ala missense NM_001408433.1:c.1294T>G NP_001395362.1:p.Ser432Ala missense NM_001408434.1:c.1294T>G NP_001395363.1:p.Ser432Ala missense NM_001408435.1:c.1294T>G NP_001395364.1:p.Ser432Ala missense NM_001408436.1:c.1294T>G NP_001395365.1:p.Ser432Ala missense NM_001408437.1:c.1294T>G NP_001395366.1:p.Ser432Ala missense NM_001408438.1:c.1294T>G NP_001395367.1:p.Ser432Ala missense NM_001408439.1:c.1294T>G NP_001395368.1:p.Ser432Ala missense NM_001408440.1:c.1294T>G NP_001395369.1:p.Ser432Ala missense NM_001408441.1:c.1294T>G NP_001395370.1:p.Ser432Ala missense NM_001408442.1:c.1294T>G NP_001395371.1:p.Ser432Ala missense NM_001408443.1:c.1294T>G NP_001395372.1:p.Ser432Ala missense NM_001408444.1:c.1294T>G NP_001395373.1:p.Ser432Ala missense NM_001408445.1:c.1291T>G NP_001395374.1:p.Ser431Ala missense NM_001408446.1:c.1291T>G NP_001395375.1:p.Ser431Ala missense NM_001408447.1:c.1291T>G NP_001395376.1:p.Ser431Ala missense NM_001408448.1:c.1291T>G NP_001395377.1:p.Ser431Ala missense NM_001408450.1:c.1291T>G NP_001395379.1:p.Ser431Ala missense NM_001408451.1:c.1285T>G NP_001395380.1:p.Ser429Ala missense NM_001408452.1:c.1279T>G NP_001395381.1:p.Ser427Ala missense NM_001408453.1:c.1279T>G NP_001395382.1:p.Ser427Ala missense NM_001408454.1:c.1279T>G NP_001395383.1:p.Ser427Ala missense NM_001408455.1:c.1279T>G NP_001395384.1:p.Ser427Ala missense NM_001408456.1:c.1279T>G NP_001395385.1:p.Ser427Ala missense NM_001408457.1:c.1279T>G NP_001395386.1:p.Ser427Ala missense NM_001408458.1:c.1276T>G NP_001395387.1:p.Ser426Ala missense NM_001408459.1:c.1276T>G NP_001395388.1:p.Ser426Ala missense NM_001408460.1:c.1276T>G NP_001395389.1:p.Ser426Ala missense NM_001408461.1:c.1276T>G NP_001395390.1:p.Ser426Ala missense NM_001408462.1:c.1276T>G NP_001395391.1:p.Ser426Ala missense NM_001408463.1:c.1276T>G NP_001395392.1:p.Ser426Ala missense NM_001408464.1:c.1276T>G NP_001395393.1:p.Ser426Ala missense NM_001408465.1:c.1276T>G NP_001395394.1:p.Ser426Ala missense NM_001408466.1:c.1276T>G NP_001395395.1:p.Ser426Ala missense NM_001408467.1:c.1276T>G NP_001395396.1:p.Ser426Ala missense NM_001408468.1:c.1273T>G NP_001395397.1:p.Ser425Ala missense NM_001408469.1:c.1273T>G NP_001395398.1:p.Ser425Ala missense NM_001408470.1:c.1273T>G NP_001395399.1:p.Ser425Ala missense NM_001408472.1:c.1417T>G NP_001395401.1:p.Ser473Ala missense NM_001408473.1:c.1414T>G NP_001395402.1:p.Ser472Ala missense NM_001408474.1:c.1219T>G NP_001395403.1:p.Ser407Ala missense NM_001408475.1:c.1216T>G NP_001395404.1:p.Ser406Ala missense NM_001408476.1:c.1216T>G NP_001395405.1:p.Ser406Ala missense NM_001408478.1:c.1210T>G NP_001395407.1:p.Ser404Ala missense NM_001408479.1:c.1210T>G NP_001395408.1:p.Ser404Ala missense NM_001408480.1:c.1210T>G NP_001395409.1:p.Ser404Ala missense NM_001408481.1:c.1207T>G NP_001395410.1:p.Ser403Ala missense NM_001408482.1:c.1207T>G NP_001395411.1:p.Ser403Ala missense NM_001408483.1:c.1207T>G NP_001395412.1:p.Ser403Ala missense NM_001408484.1:c.1207T>G NP_001395413.1:p.Ser403Ala missense NM_001408485.1:c.1207T>G NP_001395414.1:p.Ser403Ala missense NM_001408489.1:c.1207T>G NP_001395418.1:p.Ser403Ala missense NM_001408490.1:c.1207T>G NP_001395419.1:p.Ser403Ala missense NM_001408491.1:c.1207T>G NP_001395420.1:p.Ser403Ala missense NM_001408492.1:c.1204T>G NP_001395421.1:p.Ser402Ala missense NM_001408493.1:c.1204T>G NP_001395422.1:p.Ser402Ala missense NM_001408494.1:c.1180T>G NP_001395423.1:p.Ser394Ala missense NM_001408495.1:c.1174T>G NP_001395424.1:p.Ser392Ala missense NM_001408496.1:c.1156T>G NP_001395425.1:p.Ser386Ala missense NM_001408497.1:c.1156T>G NP_001395426.1:p.Ser386Ala missense NM_001408498.1:c.1156T>G NP_001395427.1:p.Ser386Ala missense NM_001408499.1:c.1156T>G NP_001395428.1:p.Ser386Ala missense NM_001408500.1:c.1156T>G NP_001395429.1:p.Ser386Ala missense NM_001408501.1:c.1156T>G NP_001395430.1:p.Ser386Ala missense NM_001408502.1:c.1153T>G NP_001395431.1:p.Ser385Ala missense NM_001408503.1:c.1153T>G NP_001395432.1:p.Ser385Ala missense NM_001408504.1:c.1153T>G NP_001395433.1:p.Ser385Ala missense NM_001408505.1:c.1150T>G NP_001395434.1:p.Ser384Ala missense NM_001408506.1:c.1093T>G NP_001395435.1:p.Ser365Ala missense NM_001408507.1:c.1090T>G NP_001395436.1:p.Ser364Ala missense NM_001408508.1:c.1081T>G NP_001395437.1:p.Ser361Ala missense NM_001408509.1:c.1078T>G NP_001395438.1:p.Ser360Ala missense NM_001408510.1:c.1039T>G NP_001395439.1:p.Ser347Ala missense NM_001408511.1:c.1036T>G NP_001395440.1:p.Ser346Ala missense NM_001408512.1:c.916T>G NP_001395441.1:p.Ser306Ala missense NM_001408513.1:c.889T>G NP_001395442.1:p.Ser297Ala missense NM_007297.4:c.4588T>G NP_009228.2:p.Ser1530Ala missense NM_007298.4:c.1417T>G NP_009229.2:p.Ser473Ala missense NM_007299.4:c.1417T>G NP_009230.2:p.Ser473Ala missense NM_007300.4:c.4792T>G NP_009231.2:p.Ser1598Ala missense NM_007304.2:c.1417T>G NP_009235.2:p.Ser473Ala missense NR_027676.2:n.4906T>G non-coding transcript variant NC_000017.11:g.43071185A>C NC_000017.10:g.41223202A>C NG_005905.2:g.146799T>G LRG_292:g.146799T>G LRG_292t1:c.4729T>G LRG_292p1:p.Ser1577Ala - Protein change
- S1530A, S1577A, S1598A, S473A, S1465A, S1466A, S1508A, S1510A, S1533A, S1536A, S1573A, S1575A, S360A, S364A, S394A, S404A, S407A, S427A, S432A, S433A, S472A, S709A, S1408A, S1464A, S1487A, S1528A, S1529A, S1534A, S1557A, S1574A, S1597A, S306A, S347A, S361A, S385A, S406A, S435A, S449A, S470A, S474A, S708A, S1281A, S1423A, S1450A, S1489A, S1549A, S1551A, S1558A, S1599A, S297A, S365A, S384A, S402A, S403A, S431A, S434A, S448A, S471A, S1280A, S1448A, S1449A, S1488A, S1505A, S1506A, S1507A, S1535A, S1550A, S1572A, S1576A, S346A, S386A, S392A, S425A, S426A, S429A, S447A, S495A, S496A
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071184:A:C
-
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.
- -
- 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 |
13050 | 14856 | |
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
|
Oct 19, 2020 | RCV001261196.2 |
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Oct 19, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Ovarian cancer
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
ACT Genomics,
Accession: SCV001438046.1
First in ClinVar: Oct 23, 2020 Last updated: Oct 23, 2020 |
Comment:
The missense variant c.4729T>G (Ser1577Ala) is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. There is a moderate physicochemical difference between serine … (more)
The missense variant c.4729T>G (Ser1577Ala) is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. There is a moderate physicochemical difference between serine and alanine. The variant is predicted to be tolerated by both SIFT or PolyPhen2. For the insufficient evidences, this variant has been classified as variant of uncertain significance. (less)
Sex: female
Ethnicity/Population group: Taiwan ; East Asia
|
Comment:
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. |
Comment:
The missense variant c.4729T>G (Ser1577Ala) is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. There is a moderate physicochemical difference between serine and alanine. The variant is predicted to be tolerated by both SIFT or PolyPhen2. For the insufficient evidences, this variant has been classified as variant of uncertain significance.
Citations for germline classification of this variant
Help| There 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 rs80356909 ...
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 Jun 17, 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.