The p.S1480C variant (also known as c.4439C>G), located in coding exon 12 of the BRCA1 gene, results from a C to G substitution at nucleotide position 4439. The serine at codon 1480 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4439C>G (p.Ser1480Cys)
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.4439C>G (p.Ser1480Cys)
Variation ID: 1740602 Accession: VCV001740602.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43076533 (GRCh38) [ NCBI UCSC ] 17: 41228550 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Nov 29, 2022 May 1, 2024 May 6, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4439C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1480Cys missense NM_001407571.1:c.4226C>G NP_001394500.1:p.Ser1409Cys missense NM_001407581.1:c.4505C>G NP_001394510.1:p.Ser1502Cys missense NM_001407582.1:c.4505C>G NP_001394511.1:p.Ser1502Cys missense NM_001407583.1:c.4502C>G NP_001394512.1:p.Ser1501Cys missense NM_001407585.1:c.4502C>G NP_001394514.1:p.Ser1501Cys missense NM_001407587.1:c.4502C>G NP_001394516.1:p.Ser1501Cys missense NM_001407590.1:c.4499C>G NP_001394519.1:p.Ser1500Cys missense NM_001407591.1:c.4499C>G NP_001394520.1:p.Ser1500Cys missense NM_001407593.1:c.4439C>G NP_001394522.1:p.Ser1480Cys missense NM_001407594.1:c.4439C>G NP_001394523.1:p.Ser1480Cys missense NM_001407596.1:c.4439C>G NP_001394525.1:p.Ser1480Cys missense NM_001407597.1:c.4439C>G NP_001394526.1:p.Ser1480Cys missense NM_001407598.1:c.4439C>G NP_001394527.1:p.Ser1480Cys missense NM_001407602.1:c.4439C>G NP_001394531.1:p.Ser1480Cys missense NM_001407603.1:c.4439C>G NP_001394532.1:p.Ser1480Cys missense NM_001407605.1:c.4439C>G NP_001394534.1:p.Ser1480Cys missense NM_001407610.1:c.4436C>G NP_001394539.1:p.Ser1479Cys missense NM_001407611.1:c.4436C>G NP_001394540.1:p.Ser1479Cys missense NM_001407612.1:c.4436C>G NP_001394541.1:p.Ser1479Cys missense NM_001407613.1:c.4436C>G NP_001394542.1:p.Ser1479Cys missense NM_001407614.1:c.4436C>G NP_001394543.1:p.Ser1479Cys missense NM_001407615.1:c.4436C>G NP_001394544.1:p.Ser1479Cys missense NM_001407616.1:c.4436C>G NP_001394545.1:p.Ser1479Cys missense NM_001407617.1:c.4436C>G NP_001394546.1:p.Ser1479Cys missense NM_001407618.1:c.4436C>G NP_001394547.1:p.Ser1479Cys missense NM_001407619.1:c.4436C>G NP_001394548.1:p.Ser1479Cys missense NM_001407620.1:c.4436C>G NP_001394549.1:p.Ser1479Cys missense NM_001407621.1:c.4436C>G NP_001394550.1:p.Ser1479Cys missense NM_001407622.1:c.4436C>G NP_001394551.1:p.Ser1479Cys missense NM_001407623.1:c.4436C>G NP_001394552.1:p.Ser1479Cys missense NM_001407624.1:c.4436C>G NP_001394553.1:p.Ser1479Cys missense NM_001407625.1:c.4436C>G NP_001394554.1:p.Ser1479Cys missense NM_001407626.1:c.4436C>G NP_001394555.1:p.Ser1479Cys missense NM_001407627.1:c.4433C>G NP_001394556.1:p.Ser1478Cys missense NM_001407628.1:c.4433C>G NP_001394557.1:p.Ser1478Cys missense NM_001407629.1:c.4433C>G NP_001394558.1:p.Ser1478Cys missense NM_001407630.1:c.4433C>G NP_001394559.1:p.Ser1478Cys missense NM_001407631.1:c.4433C>G NP_001394560.1:p.Ser1478Cys missense NM_001407632.1:c.4433C>G NP_001394561.1:p.Ser1478Cys missense NM_001407633.1:c.4433C>G NP_001394562.1:p.Ser1478Cys missense NM_001407634.1:c.4433C>G NP_001394563.1:p.Ser1478Cys missense NM_001407635.1:c.4433C>G NP_001394564.1:p.Ser1478Cys missense NM_001407636.1:c.4433C>G NP_001394565.1:p.Ser1478Cys missense NM_001407637.1:c.4433C>G NP_001394566.1:p.Ser1478Cys missense NM_001407638.1:c.4433C>G NP_001394567.1:p.Ser1478Cys missense NM_001407639.1:c.4433C>G NP_001394568.1:p.Ser1478Cys missense NM_001407640.1:c.4433C>G NP_001394569.1:p.Ser1478Cys missense NM_001407641.1:c.4433C>G NP_001394570.1:p.Ser1478Cys missense NM_001407642.1:c.4433C>G NP_001394571.1:p.Ser1478Cys missense NM_001407644.1:c.4430C>G NP_001394573.1:p.Ser1477Cys missense NM_001407645.1:c.4430C>G NP_001394574.1:p.Ser1477Cys missense NM_001407646.1:c.4427C>G NP_001394575.1:p.Ser1476Cys missense NM_001407647.1:c.4424C>G NP_001394576.1:p.Ser1475Cys missense NM_001407648.1:c.4382C>G NP_001394577.1:p.Ser1461Cys missense NM_001407649.1:c.4379C>G NP_001394578.1:p.Ser1460Cys missense NM_001407652.1:c.4439C>G NP_001394581.1:p.Ser1480Cys missense NM_001407653.1:c.4361C>G NP_001394582.1:p.Ser1454Cys missense NM_001407654.1:c.4361C>G NP_001394583.1:p.Ser1454Cys missense NM_001407655.1:c.4361C>G NP_001394584.1:p.Ser1454Cys missense NM_001407656.1:c.4358C>G NP_001394585.1:p.Ser1453Cys missense NM_001407657.1:c.4358C>G NP_001394586.1:p.Ser1453Cys missense NM_001407658.1:c.4358C>G NP_001394587.1:p.Ser1453Cys missense NM_001407659.1:c.4355C>G NP_001394588.1:p.Ser1452Cys missense NM_001407660.1:c.4355C>G NP_001394589.1:p.Ser1452Cys missense NM_001407661.1:c.4355C>G NP_001394590.1:p.Ser1452Cys missense NM_001407662.1:c.4355C>G NP_001394591.1:p.Ser1452Cys missense NM_001407663.1:c.4355C>G NP_001394592.1:p.Ser1452Cys missense NM_001407664.1:c.4316C>G NP_001394593.1:p.Ser1439Cys missense NM_001407665.1:c.4316C>G NP_001394594.1:p.Ser1439Cys missense NM_001407666.1:c.4316C>G NP_001394595.1:p.Ser1439Cys missense NM_001407667.1:c.4316C>G NP_001394596.1:p.Ser1439Cys missense NM_001407668.1:c.4316C>G NP_001394597.1:p.Ser1439Cys missense NM_001407669.1:c.4316C>G NP_001394598.1:p.Ser1439Cys missense NM_001407670.1:c.4313C>G NP_001394599.1:p.Ser1438Cys missense NM_001407671.1:c.4313C>G NP_001394600.1:p.Ser1438Cys missense NM_001407672.1:c.4313C>G NP_001394601.1:p.Ser1438Cys missense NM_001407673.1:c.4313C>G NP_001394602.1:p.Ser1438Cys missense NM_001407674.1:c.4313C>G NP_001394603.1:p.Ser1438Cys missense NM_001407675.1:c.4313C>G NP_001394604.1:p.Ser1438Cys missense NM_001407676.1:c.4313C>G NP_001394605.1:p.Ser1438Cys missense NM_001407677.1:c.4313C>G NP_001394606.1:p.Ser1438Cys missense NM_001407678.1:c.4313C>G NP_001394607.1:p.Ser1438Cys missense NM_001407679.1:c.4313C>G NP_001394608.1:p.Ser1438Cys missense NM_001407680.1:c.4313C>G NP_001394609.1:p.Ser1438Cys missense NM_001407681.1:c.4310C>G NP_001394610.1:p.Ser1437Cys missense NM_001407682.1:c.4310C>G NP_001394611.1:p.Ser1437Cys missense NM_001407683.1:c.4310C>G NP_001394612.1:p.Ser1437Cys missense NM_001407684.1:c.4439C>G NP_001394613.1:p.Ser1480Cys missense NM_001407685.1:c.4310C>G NP_001394614.1:p.Ser1437Cys missense NM_001407686.1:c.4310C>G NP_001394615.1:p.Ser1437Cys missense NM_001407687.1:c.4310C>G NP_001394616.1:p.Ser1437Cys missense NM_001407688.1:c.4310C>G NP_001394617.1:p.Ser1437Cys missense NM_001407689.1:c.4310C>G NP_001394618.1:p.Ser1437Cys missense NM_001407690.1:c.4307C>G NP_001394619.1:p.Ser1436Cys missense NM_001407691.1:c.4307C>G NP_001394620.1:p.Ser1436Cys missense NM_001407692.1:c.4298C>G NP_001394621.1:p.Ser1433Cys missense NM_001407694.1:c.4298C>G NP_001394623.1:p.Ser1433Cys missense NM_001407695.1:c.4298C>G NP_001394624.1:p.Ser1433Cys missense NM_001407696.1:c.4298C>G NP_001394625.1:p.Ser1433Cys missense NM_001407697.1:c.4298C>G NP_001394626.1:p.Ser1433Cys missense NM_001407698.1:c.4298C>G NP_001394627.1:p.Ser1433Cys missense NM_001407724.1:c.4298C>G NP_001394653.1:p.Ser1433Cys missense NM_001407725.1:c.4298C>G NP_001394654.1:p.Ser1433Cys missense NM_001407726.1:c.4298C>G NP_001394655.1:p.Ser1433Cys missense NM_001407727.1:c.4298C>G NP_001394656.1:p.Ser1433Cys missense NM_001407728.1:c.4298C>G NP_001394657.1:p.Ser1433Cys missense NM_001407729.1:c.4298C>G NP_001394658.1:p.Ser1433Cys missense NM_001407730.1:c.4298C>G NP_001394659.1:p.Ser1433Cys missense NM_001407731.1:c.4298C>G NP_001394660.1:p.Ser1433Cys missense NM_001407732.1:c.4295C>G NP_001394661.1:p.Ser1432Cys missense NM_001407733.1:c.4295C>G NP_001394662.1:p.Ser1432Cys missense NM_001407734.1:c.4295C>G NP_001394663.1:p.Ser1432Cys missense NM_001407735.1:c.4295C>G NP_001394664.1:p.Ser1432Cys missense NM_001407736.1:c.4295C>G NP_001394665.1:p.Ser1432Cys missense NM_001407737.1:c.4295C>G NP_001394666.1:p.Ser1432Cys missense NM_001407738.1:c.4295C>G NP_001394667.1:p.Ser1432Cys missense NM_001407739.1:c.4295C>G NP_001394668.1:p.Ser1432Cys missense NM_001407740.1:c.4295C>G NP_001394669.1:p.Ser1432Cys missense NM_001407741.1:c.4295C>G NP_001394670.1:p.Ser1432Cys missense NM_001407742.1:c.4295C>G NP_001394671.1:p.Ser1432Cys missense NM_001407743.1:c.4295C>G NP_001394672.1:p.Ser1432Cys missense NM_001407744.1:c.4295C>G NP_001394673.1:p.Ser1432Cys missense NM_001407745.1:c.4295C>G NP_001394674.1:p.Ser1432Cys missense NM_001407746.1:c.4295C>G NP_001394675.1:p.Ser1432Cys missense NM_001407747.1:c.4295C>G NP_001394676.1:p.Ser1432Cys missense NM_001407748.1:c.4295C>G NP_001394677.1:p.Ser1432Cys missense NM_001407749.1:c.4295C>G NP_001394678.1:p.Ser1432Cys missense NM_001407750.1:c.4295C>G NP_001394679.1:p.Ser1432Cys missense NM_001407751.1:c.4295C>G NP_001394680.1:p.Ser1432Cys missense NM_001407752.1:c.4295C>G NP_001394681.1:p.Ser1432Cys missense NM_001407838.1:c.4292C>G NP_001394767.1:p.Ser1431Cys missense NM_001407839.1:c.4292C>G NP_001394768.1:p.Ser1431Cys missense NM_001407841.1:c.4292C>G NP_001394770.1:p.Ser1431Cys missense NM_001407842.1:c.4292C>G NP_001394771.1:p.Ser1431Cys missense NM_001407843.1:c.4292C>G NP_001394772.1:p.Ser1431Cys missense NM_001407844.1:c.4292C>G NP_001394773.1:p.Ser1431Cys missense NM_001407845.1:c.4292C>G NP_001394774.1:p.Ser1431Cys missense NM_001407846.1:c.4292C>G NP_001394775.1:p.Ser1431Cys missense NM_001407847.1:c.4292C>G NP_001394776.1:p.Ser1431Cys missense NM_001407848.1:c.4292C>G NP_001394777.1:p.Ser1431Cys missense NM_001407849.1:c.4292C>G NP_001394778.1:p.Ser1431Cys missense NM_001407850.1:c.4292C>G NP_001394779.1:p.Ser1431Cys missense NM_001407851.1:c.4292C>G NP_001394780.1:p.Ser1431Cys missense NM_001407852.1:c.4292C>G NP_001394781.1:p.Ser1431Cys missense NM_001407853.1:c.4292C>G NP_001394782.1:p.Ser1431Cys missense NM_001407854.1:c.4439C>G NP_001394783.1:p.Ser1480Cys missense NM_001407858.1:c.4436C>G NP_001394787.1:p.Ser1479Cys missense NM_001407859.1:c.4436C>G NP_001394788.1:p.Ser1479Cys missense NM_001407860.1:c.4436C>G NP_001394789.1:p.Ser1479Cys missense NM_001407861.1:c.4433C>G NP_001394790.1:p.Ser1478Cys missense NM_001407862.1:c.4238C>G NP_001394791.1:p.Ser1413Cys missense NM_001407863.1:c.4313C>G NP_001394792.1:p.Ser1438Cys missense NM_001407874.1:c.4232C>G NP_001394803.1:p.Ser1411Cys missense NM_001407875.1:c.4232C>G NP_001394804.1:p.Ser1411Cys missense NM_001407879.1:c.4229C>G NP_001394808.1:p.Ser1410Cys missense NM_001407881.1:c.4229C>G NP_001394810.1:p.Ser1410Cys missense NM_001407882.1:c.4229C>G NP_001394811.1:p.Ser1410Cys missense NM_001407884.1:c.4229C>G NP_001394813.1:p.Ser1410Cys missense NM_001407885.1:c.4229C>G NP_001394814.1:p.Ser1410Cys missense NM_001407886.1:c.4229C>G NP_001394815.1:p.Ser1410Cys missense NM_001407887.1:c.4229C>G NP_001394816.1:p.Ser1410Cys missense NM_001407889.1:c.4229C>G NP_001394818.1:p.Ser1410Cys missense NM_001407894.1:c.4226C>G NP_001394823.1:p.Ser1409Cys missense NM_001407895.1:c.4226C>G NP_001394824.1:p.Ser1409Cys missense NM_001407896.1:c.4226C>G NP_001394825.1:p.Ser1409Cys missense NM_001407897.1:c.4226C>G NP_001394826.1:p.Ser1409Cys missense NM_001407898.1:c.4226C>G NP_001394827.1:p.Ser1409Cys missense NM_001407899.1:c.4226C>G NP_001394828.1:p.Ser1409Cys missense NM_001407900.1:c.4226C>G NP_001394829.1:p.Ser1409Cys missense NM_001407902.1:c.4226C>G NP_001394831.1:p.Ser1409Cys missense NM_001407904.1:c.4226C>G NP_001394833.1:p.Ser1409Cys missense NM_001407906.1:c.4226C>G NP_001394835.1:p.Ser1409Cys missense NM_001407907.1:c.4226C>G NP_001394836.1:p.Ser1409Cys missense NM_001407908.1:c.4226C>G NP_001394837.1:p.Ser1409Cys missense NM_001407909.1:c.4226C>G NP_001394838.1:p.Ser1409Cys missense NM_001407910.1:c.4226C>G NP_001394839.1:p.Ser1409Cys missense NM_001407915.1:c.4223C>G NP_001394844.1:p.Ser1408Cys missense NM_001407916.1:c.4223C>G NP_001394845.1:p.Ser1408Cys missense NM_001407917.1:c.4223C>G NP_001394846.1:p.Ser1408Cys missense NM_001407918.1:c.4223C>G NP_001394847.1:p.Ser1408Cys missense NM_001407919.1:c.4316C>G NP_001394848.1:p.Ser1439Cys missense NM_001407920.1:c.4175C>G NP_001394849.1:p.Ser1392Cys missense NM_001407921.1:c.4175C>G NP_001394850.1:p.Ser1392Cys missense NM_001407922.1:c.4175C>G NP_001394851.1:p.Ser1392Cys missense NM_001407923.1:c.4175C>G NP_001394852.1:p.Ser1392Cys missense NM_001407924.1:c.4175C>G NP_001394853.1:p.Ser1392Cys missense NM_001407925.1:c.4175C>G NP_001394854.1:p.Ser1392Cys missense NM_001407926.1:c.4175C>G NP_001394855.1:p.Ser1392Cys missense NM_001407927.1:c.4172C>G NP_001394856.1:p.Ser1391Cys missense NM_001407928.1:c.4172C>G NP_001394857.1:p.Ser1391Cys missense NM_001407929.1:c.4172C>G NP_001394858.1:p.Ser1391Cys missense NM_001407930.1:c.4172C>G NP_001394859.1:p.Ser1391Cys missense NM_001407931.1:c.4172C>G NP_001394860.1:p.Ser1391Cys missense NM_001407932.1:c.4172C>G NP_001394861.1:p.Ser1391Cys missense NM_001407933.1:c.4172C>G NP_001394862.1:p.Ser1391Cys missense NM_001407934.1:c.4169C>G NP_001394863.1:p.Ser1390Cys missense NM_001407935.1:c.4169C>G NP_001394864.1:p.Ser1390Cys missense NM_001407936.1:c.4169C>G NP_001394865.1:p.Ser1390Cys missense NM_001407937.1:c.4316C>G NP_001394866.1:p.Ser1439Cys missense NM_001407938.1:c.4316C>G NP_001394867.1:p.Ser1439Cys missense NM_001407939.1:c.4313C>G NP_001394868.1:p.Ser1438Cys missense NM_001407940.1:c.4313C>G NP_001394869.1:p.Ser1438Cys missense NM_001407941.1:c.4310C>G NP_001394870.1:p.Ser1437Cys missense NM_001407942.1:c.4298C>G NP_001394871.1:p.Ser1433Cys missense NM_001407943.1:c.4295C>G NP_001394872.1:p.Ser1432Cys missense NM_001407944.1:c.4295C>G NP_001394873.1:p.Ser1432Cys missense NM_001407945.1:c.4295C>G NP_001394874.1:p.Ser1432Cys missense NM_001407946.1:c.4106C>G NP_001394875.1:p.Ser1369Cys missense NM_001407947.1:c.4106C>G NP_001394876.1:p.Ser1369Cys missense NM_001407948.1:c.4106C>G NP_001394877.1:p.Ser1369Cys missense NM_001407949.1:c.4106C>G NP_001394878.1:p.Ser1369Cys missense NM_001407950.1:c.4103C>G NP_001394879.1:p.Ser1368Cys missense NM_001407951.1:c.4103C>G NP_001394880.1:p.Ser1368Cys missense NM_001407952.1:c.4103C>G NP_001394881.1:p.Ser1368Cys missense NM_001407953.1:c.4103C>G NP_001394882.1:p.Ser1368Cys missense NM_001407954.1:c.4103C>G NP_001394883.1:p.Ser1368Cys missense NM_001407955.1:c.4103C>G NP_001394884.1:p.Ser1368Cys missense NM_001407956.1:c.4100C>G NP_001394885.1:p.Ser1367Cys missense NM_001407957.1:c.4100C>G NP_001394886.1:p.Ser1367Cys missense NM_001407958.1:c.4100C>G NP_001394887.1:p.Ser1367Cys missense NM_001407959.1:c.4058C>G NP_001394888.1:p.Ser1353Cys missense NM_001407960.1:c.4055C>G NP_001394889.1:p.Ser1352Cys missense NM_001407962.1:c.4055C>G NP_001394891.1:p.Ser1352Cys missense NM_001407963.1:c.4052C>G NP_001394892.1:p.Ser1351Cys missense NM_001407965.1:c.3932C>G NP_001394894.1:p.Ser1311Cys missense NM_001407966.1:c.3551C>G NP_001394895.1:p.Ser1184Cys missense NM_001407967.1:c.3548C>G NP_001394896.1:p.Ser1183Cys missense NM_001407968.1:c.1835C>G NP_001394897.1:p.Ser612Cys missense NM_001407969.1:c.1832C>G NP_001394898.1:p.Ser611Cys missense NM_001407970.1:c.1196C>G NP_001394899.1:p.Ser399Cys missense NM_001407971.1:c.1196C>G NP_001394900.1:p.Ser399Cys missense NM_001407972.1:c.1193C>G NP_001394901.1:p.Ser398Cys missense NM_001407973.1:c.1130C>G NP_001394902.1:p.Ser377Cys missense NM_001407974.1:c.1130C>G NP_001394903.1:p.Ser377Cys missense NM_001407975.1:c.1130C>G NP_001394904.1:p.Ser377Cys missense NM_001407976.1:c.1130C>G NP_001394905.1:p.Ser377Cys missense NM_001407977.1:c.1130C>G NP_001394906.1:p.Ser377Cys missense NM_001407978.1:c.1130C>G NP_001394907.1:p.Ser377Cys missense NM_001407979.1:c.1127C>G NP_001394908.1:p.Ser376Cys missense NM_001407980.1:c.1127C>G NP_001394909.1:p.Ser376Cys missense NM_001407981.1:c.1127C>G NP_001394910.1:p.Ser376Cys missense NM_001407982.1:c.1127C>G NP_001394911.1:p.Ser376Cys missense NM_001407983.1:c.1127C>G NP_001394912.1:p.Ser376Cys missense NM_001407984.1:c.1127C>G NP_001394913.1:p.Ser376Cys missense NM_001407985.1:c.1127C>G NP_001394914.1:p.Ser376Cys missense NM_001407986.1:c.1127C>G NP_001394915.1:p.Ser376Cys missense NM_001407990.1:c.1127C>G NP_001394919.1:p.Ser376Cys missense NM_001407991.1:c.1127C>G NP_001394920.1:p.Ser376Cys missense NM_001407992.1:c.1127C>G NP_001394921.1:p.Ser376Cys missense NM_001407993.1:c.1127C>G NP_001394922.1:p.Ser376Cys missense NM_001408392.1:c.1124C>G NP_001395321.1:p.Ser375Cys missense NM_001408396.1:c.1124C>G NP_001395325.1:p.Ser375Cys missense NM_001408397.1:c.1124C>G NP_001395326.1:p.Ser375Cys missense NM_001408398.1:c.1124C>G NP_001395327.1:p.Ser375Cys missense NM_001408399.1:c.1124C>G NP_001395328.1:p.Ser375Cys missense NM_001408400.1:c.1124C>G NP_001395329.1:p.Ser375Cys missense NM_001408401.1:c.1124C>G NP_001395330.1:p.Ser375Cys missense NM_001408402.1:c.1124C>G NP_001395331.1:p.Ser375Cys missense NM_001408403.1:c.1124C>G NP_001395332.1:p.Ser375Cys missense NM_001408404.1:c.1124C>G NP_001395333.1:p.Ser375Cys missense NM_001408406.1:c.1121C>G NP_001395335.1:p.Ser374Cys missense NM_001408407.1:c.1121C>G NP_001395336.1:p.Ser374Cys missense NM_001408408.1:c.1121C>G NP_001395337.1:p.Ser374Cys missense NM_001408409.1:c.1118C>G NP_001395338.1:p.Ser373Cys missense NM_001408410.1:c.1055C>G NP_001395339.1:p.Ser352Cys missense NM_001408411.1:c.1052C>G NP_001395340.1:p.Ser351Cys missense NM_001408412.1:c.1049C>G NP_001395341.1:p.Ser350Cys missense NM_001408413.1:c.1049C>G NP_001395342.1:p.Ser350Cys missense NM_001408414.1:c.1049C>G NP_001395343.1:p.Ser350Cys missense NM_001408415.1:c.1049C>G NP_001395344.1:p.Ser350Cys missense NM_001408416.1:c.1049C>G NP_001395345.1:p.Ser350Cys missense NM_001408418.1:c.1013C>G NP_001395347.1:p.Ser338Cys missense NM_001408419.1:c.1013C>G NP_001395348.1:p.Ser338Cys missense NM_001408420.1:c.1013C>G NP_001395349.1:p.Ser338Cys missense NM_001408421.1:c.1010C>G NP_001395350.1:p.Ser337Cys missense NM_001408422.1:c.1010C>G NP_001395351.1:p.Ser337Cys missense NM_001408423.1:c.1010C>G NP_001395352.1:p.Ser337Cys missense NM_001408424.1:c.1010C>G NP_001395353.1:p.Ser337Cys missense NM_001408425.1:c.1007C>G NP_001395354.1:p.Ser336Cys missense NM_001408426.1:c.1007C>G NP_001395355.1:p.Ser336Cys missense NM_001408427.1:c.1007C>G NP_001395356.1:p.Ser336Cys missense NM_001408428.1:c.1007C>G NP_001395357.1:p.Ser336Cys missense NM_001408429.1:c.1007C>G NP_001395358.1:p.Ser336Cys missense NM_001408430.1:c.1007C>G NP_001395359.1:p.Ser336Cys missense NM_001408431.1:c.1007C>G NP_001395360.1:p.Ser336Cys missense NM_001408432.1:c.1004C>G NP_001395361.1:p.Ser335Cys missense NM_001408433.1:c.1004C>G NP_001395362.1:p.Ser335Cys missense NM_001408434.1:c.1004C>G NP_001395363.1:p.Ser335Cys missense NM_001408435.1:c.1004C>G NP_001395364.1:p.Ser335Cys missense NM_001408436.1:c.1004C>G NP_001395365.1:p.Ser335Cys missense NM_001408437.1:c.1004C>G NP_001395366.1:p.Ser335Cys missense NM_001408438.1:c.1004C>G NP_001395367.1:p.Ser335Cys missense NM_001408439.1:c.1004C>G NP_001395368.1:p.Ser335Cys missense NM_001408440.1:c.1004C>G NP_001395369.1:p.Ser335Cys missense NM_001408441.1:c.1004C>G NP_001395370.1:p.Ser335Cys missense NM_001408442.1:c.1004C>G NP_001395371.1:p.Ser335Cys missense NM_001408443.1:c.1004C>G NP_001395372.1:p.Ser335Cys missense NM_001408444.1:c.1004C>G NP_001395373.1:p.Ser335Cys missense NM_001408445.1:c.1001C>G NP_001395374.1:p.Ser334Cys missense NM_001408446.1:c.1001C>G NP_001395375.1:p.Ser334Cys missense NM_001408447.1:c.1001C>G NP_001395376.1:p.Ser334Cys missense NM_001408448.1:c.1001C>G NP_001395377.1:p.Ser334Cys missense NM_001408450.1:c.1001C>G NP_001395379.1:p.Ser334Cys missense NM_001408451.1:c.995C>G NP_001395380.1:p.Ser332Cys missense NM_001408452.1:c.989C>G NP_001395381.1:p.Ser330Cys missense NM_001408453.1:c.989C>G NP_001395382.1:p.Ser330Cys missense NM_001408454.1:c.989C>G NP_001395383.1:p.Ser330Cys missense NM_001408455.1:c.989C>G NP_001395384.1:p.Ser330Cys missense NM_001408456.1:c.989C>G NP_001395385.1:p.Ser330Cys missense NM_001408457.1:c.989C>G NP_001395386.1:p.Ser330Cys missense NM_001408458.1:c.986C>G NP_001395387.1:p.Ser329Cys missense NM_001408459.1:c.986C>G NP_001395388.1:p.Ser329Cys missense NM_001408460.1:c.986C>G NP_001395389.1:p.Ser329Cys missense NM_001408461.1:c.986C>G NP_001395390.1:p.Ser329Cys missense NM_001408462.1:c.986C>G NP_001395391.1:p.Ser329Cys missense NM_001408463.1:c.986C>G NP_001395392.1:p.Ser329Cys missense NM_001408464.1:c.986C>G NP_001395393.1:p.Ser329Cys missense NM_001408465.1:c.986C>G NP_001395394.1:p.Ser329Cys missense NM_001408466.1:c.986C>G NP_001395395.1:p.Ser329Cys missense NM_001408467.1:c.986C>G NP_001395396.1:p.Ser329Cys missense NM_001408468.1:c.983C>G NP_001395397.1:p.Ser328Cys missense NM_001408469.1:c.983C>G NP_001395398.1:p.Ser328Cys missense NM_001408470.1:c.983C>G NP_001395399.1:p.Ser328Cys missense NM_001408472.1:c.1127C>G NP_001395401.1:p.Ser376Cys missense NM_001408473.1:c.1124C>G NP_001395402.1:p.Ser375Cys missense NM_001408474.1:c.929C>G NP_001395403.1:p.Ser310Cys missense NM_001408475.1:c.926C>G NP_001395404.1:p.Ser309Cys missense NM_001408476.1:c.926C>G NP_001395405.1:p.Ser309Cys missense NM_001408478.1:c.920C>G NP_001395407.1:p.Ser307Cys missense NM_001408479.1:c.920C>G NP_001395408.1:p.Ser307Cys missense NM_001408480.1:c.920C>G NP_001395409.1:p.Ser307Cys missense NM_001408481.1:c.917C>G NP_001395410.1:p.Ser306Cys missense NM_001408482.1:c.917C>G NP_001395411.1:p.Ser306Cys missense NM_001408483.1:c.917C>G NP_001395412.1:p.Ser306Cys missense NM_001408484.1:c.917C>G NP_001395413.1:p.Ser306Cys missense NM_001408485.1:c.917C>G NP_001395414.1:p.Ser306Cys missense NM_001408489.1:c.917C>G NP_001395418.1:p.Ser306Cys missense NM_001408490.1:c.917C>G NP_001395419.1:p.Ser306Cys missense NM_001408491.1:c.917C>G NP_001395420.1:p.Ser306Cys missense NM_001408492.1:c.914C>G NP_001395421.1:p.Ser305Cys missense NM_001408493.1:c.914C>G NP_001395422.1:p.Ser305Cys missense NM_001408494.1:c.890C>G NP_001395423.1:p.Ser297Cys missense NM_001408495.1:c.884C>G NP_001395424.1:p.Ser295Cys missense NM_001408496.1:c.866C>G NP_001395425.1:p.Ser289Cys missense NM_001408497.1:c.866C>G NP_001395426.1:p.Ser289Cys missense NM_001408498.1:c.866C>G NP_001395427.1:p.Ser289Cys missense NM_001408499.1:c.866C>G NP_001395428.1:p.Ser289Cys missense NM_001408500.1:c.866C>G NP_001395429.1:p.Ser289Cys missense NM_001408501.1:c.866C>G NP_001395430.1:p.Ser289Cys missense NM_001408502.1:c.863C>G NP_001395431.1:p.Ser288Cys missense NM_001408503.1:c.863C>G NP_001395432.1:p.Ser288Cys missense NM_001408504.1:c.863C>G NP_001395433.1:p.Ser288Cys missense NM_001408505.1:c.860C>G NP_001395434.1:p.Ser287Cys missense NM_001408506.1:c.803C>G NP_001395435.1:p.Ser268Cys missense NM_001408507.1:c.800C>G NP_001395436.1:p.Ser267Cys missense NM_001408508.1:c.791C>G NP_001395437.1:p.Ser264Cys missense NM_001408509.1:c.788C>G NP_001395438.1:p.Ser263Cys missense NM_001408510.1:c.749C>G NP_001395439.1:p.Ser250Cys missense NM_001408511.1:c.746C>G NP_001395440.1:p.Ser249Cys missense NM_001408512.1:c.626C>G NP_001395441.1:p.Ser209Cys missense NM_007297.4:c.4298C>G NP_009228.2:p.Ser1433Cys missense NM_007298.4:c.1127C>G NP_009229.2:p.Ser376Cys missense NM_007299.4:c.1127C>G NP_009230.2:p.Ser376Cys missense NM_007300.4:c.4502C>G NP_009231.2:p.Ser1501Cys missense NM_007304.2:c.1127C>G NP_009235.2:p.Ser376Cys missense NR_027676.2:n.4616C>G non-coding transcript variant NC_000017.11:g.43076533G>C NC_000017.10:g.41228550G>C NG_005905.2:g.141451C>G LRG_292:g.141451C>G LRG_292t1:c.4439C>G LRG_292p1:p.Ser1480Cys - Protein change
- S1183C, S1311C, S1351C, S1352C, S1369C, S1409C, S1413C, S1436C, S1438C, S1476C, S1500C, S209C, S249C, S268C, S306C, S307C, S374C, S376C, S612C, S1184C, S1367C, S1392C, S1410C, S1411C, S1439C, S1452C, S1461C, S1477C, S1478C, S250C, S264C, S267C, S288C, S297C, S310C, S334C, S335C, S337C, S350C, S399C, S1368C, S1390C, S1408C, S1431C, S1433C, S1453C, S1460C, S1502C, S287C, S305C, S329C, S330C, S351C, S352C, S375C, S377C, S611C, S1353C, S1391C, S1432C, S1437C, S1454C, S1475C, S1479C, S1480C, S1501C, S263C, S289C, S295C, S309C, S328C, S332C, S336C, S338C, S373C, S398C
- Other names
- -
- Canonical SPDI
- NC_000017.11:43076532:G: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 |
13041 | 14847 | |
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
|
May 6, 2020 | RCV002328253.2 |
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
(May 06, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002632580.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.S1480C variant (also known as c.4439C>G), located in coding exon 12 of the BRCA1 gene, results from a C to G substitution at nucleotide … (more)
The p.S1480C variant (also known as c.4439C>G), located in coding exon 12 of the BRCA1 gene, results from a C to G substitution at nucleotide position 4439. The serine at codon 1480 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
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 p.S1480C variant (also known as c.4439C>G), located in coding exon 12 of the BRCA1 gene, results from a C to G substitution at nucleotide position 4439. The serine at codon 1480 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
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 this variant ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.