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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 1009406). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1529 of the BRCA1 protein (p.Ile1529Ser).
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4586T>G (p.Ile1529Ser)
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
-
NM_007294.4(BRCA1):c.4586T>G (p.Ile1529Ser)
Variation ID: 1009406 Accession: VCV001009406.9
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074420 (GRCh38) [ NCBI UCSC ] 17: 41226437 (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 Mar 7, 2021 Feb 20, 2024 Nov 1, 2022 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4586T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile1529Ser missense NM_001407571.1:c.4373T>G NP_001394500.1:p.Ile1458Ser missense NM_001407581.1:c.4652T>G NP_001394510.1:p.Ile1551Ser missense NM_001407582.1:c.4652T>G NP_001394511.1:p.Ile1551Ser missense NM_001407583.1:c.4649T>G NP_001394512.1:p.Ile1550Ser missense NM_001407585.1:c.4649T>G NP_001394514.1:p.Ile1550Ser missense NM_001407587.1:c.4649T>G NP_001394516.1:p.Ile1550Ser missense NM_001407590.1:c.4646T>G NP_001394519.1:p.Ile1549Ser missense NM_001407591.1:c.4646T>G NP_001394520.1:p.Ile1549Ser missense NM_001407593.1:c.4586T>G NP_001394522.1:p.Ile1529Ser missense NM_001407594.1:c.4586T>G NP_001394523.1:p.Ile1529Ser missense NM_001407596.1:c.4586T>G NP_001394525.1:p.Ile1529Ser missense NM_001407597.1:c.4586T>G NP_001394526.1:p.Ile1529Ser missense NM_001407598.1:c.4586T>G NP_001394527.1:p.Ile1529Ser missense NM_001407602.1:c.4586T>G NP_001394531.1:p.Ile1529Ser missense NM_001407603.1:c.4586T>G NP_001394532.1:p.Ile1529Ser missense NM_001407605.1:c.4586T>G NP_001394534.1:p.Ile1529Ser missense NM_001407610.1:c.4583T>G NP_001394539.1:p.Ile1528Ser missense NM_001407611.1:c.4583T>G NP_001394540.1:p.Ile1528Ser missense NM_001407612.1:c.4583T>G NP_001394541.1:p.Ile1528Ser missense NM_001407613.1:c.4583T>G NP_001394542.1:p.Ile1528Ser missense NM_001407614.1:c.4583T>G NP_001394543.1:p.Ile1528Ser missense NM_001407615.1:c.4583T>G NP_001394544.1:p.Ile1528Ser missense NM_001407616.1:c.4583T>G NP_001394545.1:p.Ile1528Ser missense NM_001407617.1:c.4583T>G NP_001394546.1:p.Ile1528Ser missense NM_001407618.1:c.4583T>G NP_001394547.1:p.Ile1528Ser missense NM_001407619.1:c.4583T>G NP_001394548.1:p.Ile1528Ser missense NM_001407620.1:c.4583T>G NP_001394549.1:p.Ile1528Ser missense NM_001407621.1:c.4583T>G NP_001394550.1:p.Ile1528Ser missense NM_001407622.1:c.4583T>G NP_001394551.1:p.Ile1528Ser missense NM_001407623.1:c.4583T>G NP_001394552.1:p.Ile1528Ser missense NM_001407624.1:c.4583T>G NP_001394553.1:p.Ile1528Ser missense NM_001407625.1:c.4583T>G NP_001394554.1:p.Ile1528Ser missense NM_001407626.1:c.4583T>G NP_001394555.1:p.Ile1528Ser missense NM_001407627.1:c.4580T>G NP_001394556.1:p.Ile1527Ser missense NM_001407628.1:c.4580T>G NP_001394557.1:p.Ile1527Ser missense NM_001407629.1:c.4580T>G NP_001394558.1:p.Ile1527Ser missense NM_001407630.1:c.4580T>G NP_001394559.1:p.Ile1527Ser missense NM_001407631.1:c.4580T>G NP_001394560.1:p.Ile1527Ser missense NM_001407632.1:c.4580T>G NP_001394561.1:p.Ile1527Ser missense NM_001407633.1:c.4580T>G NP_001394562.1:p.Ile1527Ser missense NM_001407634.1:c.4580T>G NP_001394563.1:p.Ile1527Ser missense NM_001407635.1:c.4580T>G NP_001394564.1:p.Ile1527Ser missense NM_001407636.1:c.4580T>G NP_001394565.1:p.Ile1527Ser missense NM_001407637.1:c.4580T>G NP_001394566.1:p.Ile1527Ser missense NM_001407638.1:c.4580T>G NP_001394567.1:p.Ile1527Ser missense NM_001407639.1:c.4580T>G NP_001394568.1:p.Ile1527Ser missense NM_001407640.1:c.4580T>G NP_001394569.1:p.Ile1527Ser missense NM_001407641.1:c.4580T>G NP_001394570.1:p.Ile1527Ser missense NM_001407642.1:c.4580T>G NP_001394571.1:p.Ile1527Ser missense NM_001407644.1:c.4577T>G NP_001394573.1:p.Ile1526Ser missense NM_001407645.1:c.4577T>G NP_001394574.1:p.Ile1526Ser missense NM_001407646.1:c.4574T>G NP_001394575.1:p.Ile1525Ser missense NM_001407647.1:c.4571T>G NP_001394576.1:p.Ile1524Ser missense NM_001407648.1:c.4529T>G NP_001394577.1:p.Ile1510Ser missense NM_001407649.1:c.4526T>G NP_001394578.1:p.Ile1509Ser missense NM_001407652.1:c.4586T>G NP_001394581.1:p.Ile1529Ser missense NM_001407653.1:c.4508T>G NP_001394582.1:p.Ile1503Ser missense NM_001407654.1:c.4508T>G NP_001394583.1:p.Ile1503Ser missense NM_001407655.1:c.4508T>G NP_001394584.1:p.Ile1503Ser missense NM_001407656.1:c.4505T>G NP_001394585.1:p.Ile1502Ser missense NM_001407657.1:c.4505T>G NP_001394586.1:p.Ile1502Ser missense NM_001407658.1:c.4505T>G NP_001394587.1:p.Ile1502Ser missense NM_001407659.1:c.4502T>G NP_001394588.1:p.Ile1501Ser missense NM_001407660.1:c.4502T>G NP_001394589.1:p.Ile1501Ser missense NM_001407661.1:c.4502T>G NP_001394590.1:p.Ile1501Ser missense NM_001407662.1:c.4502T>G NP_001394591.1:p.Ile1501Ser missense NM_001407663.1:c.4502T>G NP_001394592.1:p.Ile1501Ser missense NM_001407664.1:c.4463T>G NP_001394593.1:p.Ile1488Ser missense NM_001407665.1:c.4463T>G NP_001394594.1:p.Ile1488Ser missense NM_001407666.1:c.4463T>G NP_001394595.1:p.Ile1488Ser missense NM_001407667.1:c.4463T>G NP_001394596.1:p.Ile1488Ser missense NM_001407668.1:c.4463T>G NP_001394597.1:p.Ile1488Ser missense NM_001407669.1:c.4463T>G NP_001394598.1:p.Ile1488Ser missense NM_001407670.1:c.4460T>G NP_001394599.1:p.Ile1487Ser missense NM_001407671.1:c.4460T>G NP_001394600.1:p.Ile1487Ser missense NM_001407672.1:c.4460T>G NP_001394601.1:p.Ile1487Ser missense NM_001407673.1:c.4460T>G NP_001394602.1:p.Ile1487Ser missense NM_001407674.1:c.4460T>G NP_001394603.1:p.Ile1487Ser missense NM_001407675.1:c.4460T>G NP_001394604.1:p.Ile1487Ser missense NM_001407676.1:c.4460T>G NP_001394605.1:p.Ile1487Ser missense NM_001407677.1:c.4460T>G NP_001394606.1:p.Ile1487Ser missense NM_001407678.1:c.4460T>G NP_001394607.1:p.Ile1487Ser missense NM_001407679.1:c.4460T>G NP_001394608.1:p.Ile1487Ser missense NM_001407680.1:c.4460T>G NP_001394609.1:p.Ile1487Ser missense NM_001407681.1:c.4457T>G NP_001394610.1:p.Ile1486Ser missense NM_001407682.1:c.4457T>G NP_001394611.1:p.Ile1486Ser missense NM_001407683.1:c.4457T>G NP_001394612.1:p.Ile1486Ser missense NM_001407684.1:c.4586T>G NP_001394613.1:p.Ile1529Ser missense NM_001407685.1:c.4457T>G NP_001394614.1:p.Ile1486Ser missense NM_001407686.1:c.4457T>G NP_001394615.1:p.Ile1486Ser missense NM_001407687.1:c.4457T>G NP_001394616.1:p.Ile1486Ser missense NM_001407688.1:c.4457T>G NP_001394617.1:p.Ile1486Ser missense NM_001407689.1:c.4457T>G NP_001394618.1:p.Ile1486Ser missense NM_001407690.1:c.4454T>G NP_001394619.1:p.Ile1485Ser missense NM_001407691.1:c.4454T>G NP_001394620.1:p.Ile1485Ser missense NM_001407692.1:c.4445T>G NP_001394621.1:p.Ile1482Ser missense NM_001407694.1:c.4445T>G NP_001394623.1:p.Ile1482Ser missense NM_001407695.1:c.4445T>G NP_001394624.1:p.Ile1482Ser missense NM_001407696.1:c.4445T>G NP_001394625.1:p.Ile1482Ser missense NM_001407697.1:c.4445T>G NP_001394626.1:p.Ile1482Ser missense NM_001407698.1:c.4445T>G NP_001394627.1:p.Ile1482Ser missense NM_001407724.1:c.4445T>G NP_001394653.1:p.Ile1482Ser missense NM_001407725.1:c.4445T>G NP_001394654.1:p.Ile1482Ser missense NM_001407726.1:c.4445T>G NP_001394655.1:p.Ile1482Ser missense NM_001407727.1:c.4445T>G NP_001394656.1:p.Ile1482Ser missense NM_001407728.1:c.4445T>G NP_001394657.1:p.Ile1482Ser missense NM_001407729.1:c.4445T>G NP_001394658.1:p.Ile1482Ser missense NM_001407730.1:c.4445T>G NP_001394659.1:p.Ile1482Ser missense NM_001407731.1:c.4445T>G NP_001394660.1:p.Ile1482Ser missense NM_001407732.1:c.4442T>G NP_001394661.1:p.Ile1481Ser missense NM_001407733.1:c.4442T>G NP_001394662.1:p.Ile1481Ser missense NM_001407734.1:c.4442T>G NP_001394663.1:p.Ile1481Ser missense NM_001407735.1:c.4442T>G NP_001394664.1:p.Ile1481Ser missense NM_001407736.1:c.4442T>G NP_001394665.1:p.Ile1481Ser missense NM_001407737.1:c.4442T>G NP_001394666.1:p.Ile1481Ser missense NM_001407738.1:c.4442T>G NP_001394667.1:p.Ile1481Ser missense NM_001407739.1:c.4442T>G NP_001394668.1:p.Ile1481Ser missense NM_001407740.1:c.4442T>G NP_001394669.1:p.Ile1481Ser missense NM_001407741.1:c.4442T>G NP_001394670.1:p.Ile1481Ser missense NM_001407742.1:c.4442T>G NP_001394671.1:p.Ile1481Ser missense NM_001407743.1:c.4442T>G NP_001394672.1:p.Ile1481Ser missense NM_001407744.1:c.4442T>G NP_001394673.1:p.Ile1481Ser missense NM_001407745.1:c.4442T>G NP_001394674.1:p.Ile1481Ser missense NM_001407746.1:c.4442T>G NP_001394675.1:p.Ile1481Ser missense NM_001407747.1:c.4442T>G NP_001394676.1:p.Ile1481Ser missense NM_001407748.1:c.4442T>G NP_001394677.1:p.Ile1481Ser missense NM_001407749.1:c.4442T>G NP_001394678.1:p.Ile1481Ser missense NM_001407750.1:c.4442T>G NP_001394679.1:p.Ile1481Ser missense NM_001407751.1:c.4442T>G NP_001394680.1:p.Ile1481Ser missense NM_001407752.1:c.4442T>G NP_001394681.1:p.Ile1481Ser missense NM_001407838.1:c.4439T>G NP_001394767.1:p.Ile1480Ser missense NM_001407839.1:c.4439T>G NP_001394768.1:p.Ile1480Ser missense NM_001407841.1:c.4439T>G NP_001394770.1:p.Ile1480Ser missense NM_001407842.1:c.4439T>G NP_001394771.1:p.Ile1480Ser missense NM_001407843.1:c.4439T>G NP_001394772.1:p.Ile1480Ser missense NM_001407844.1:c.4439T>G NP_001394773.1:p.Ile1480Ser missense NM_001407845.1:c.4439T>G NP_001394774.1:p.Ile1480Ser missense NM_001407846.1:c.4439T>G NP_001394775.1:p.Ile1480Ser missense NM_001407847.1:c.4439T>G NP_001394776.1:p.Ile1480Ser missense NM_001407848.1:c.4439T>G NP_001394777.1:p.Ile1480Ser missense NM_001407849.1:c.4439T>G NP_001394778.1:p.Ile1480Ser missense NM_001407850.1:c.4439T>G NP_001394779.1:p.Ile1480Ser missense NM_001407851.1:c.4439T>G NP_001394780.1:p.Ile1480Ser missense NM_001407852.1:c.4439T>G NP_001394781.1:p.Ile1480Ser missense NM_001407853.1:c.4439T>G NP_001394782.1:p.Ile1480Ser missense NM_001407854.1:c.4586T>G NP_001394783.1:p.Ile1529Ser missense NM_001407858.1:c.4583T>G NP_001394787.1:p.Ile1528Ser missense NM_001407859.1:c.4583T>G NP_001394788.1:p.Ile1528Ser missense NM_001407860.1:c.4583T>G NP_001394789.1:p.Ile1528Ser missense NM_001407861.1:c.4580T>G NP_001394790.1:p.Ile1527Ser missense NM_001407862.1:c.4385T>G NP_001394791.1:p.Ile1462Ser missense NM_001407863.1:c.4460T>G NP_001394792.1:p.Ile1487Ser missense NM_001407874.1:c.4379T>G NP_001394803.1:p.Ile1460Ser missense NM_001407875.1:c.4379T>G NP_001394804.1:p.Ile1460Ser missense NM_001407879.1:c.4376T>G NP_001394808.1:p.Ile1459Ser missense NM_001407881.1:c.4376T>G NP_001394810.1:p.Ile1459Ser missense NM_001407882.1:c.4376T>G NP_001394811.1:p.Ile1459Ser missense NM_001407884.1:c.4376T>G NP_001394813.1:p.Ile1459Ser missense NM_001407885.1:c.4376T>G NP_001394814.1:p.Ile1459Ser missense NM_001407886.1:c.4376T>G NP_001394815.1:p.Ile1459Ser missense NM_001407887.1:c.4376T>G NP_001394816.1:p.Ile1459Ser missense NM_001407889.1:c.4376T>G NP_001394818.1:p.Ile1459Ser missense NM_001407894.1:c.4373T>G NP_001394823.1:p.Ile1458Ser missense NM_001407895.1:c.4373T>G NP_001394824.1:p.Ile1458Ser missense NM_001407896.1:c.4373T>G NP_001394825.1:p.Ile1458Ser missense NM_001407897.1:c.4373T>G NP_001394826.1:p.Ile1458Ser missense NM_001407898.1:c.4373T>G NP_001394827.1:p.Ile1458Ser missense NM_001407899.1:c.4373T>G NP_001394828.1:p.Ile1458Ser missense NM_001407900.1:c.4373T>G NP_001394829.1:p.Ile1458Ser missense NM_001407902.1:c.4373T>G NP_001394831.1:p.Ile1458Ser missense NM_001407904.1:c.4373T>G NP_001394833.1:p.Ile1458Ser missense NM_001407906.1:c.4373T>G NP_001394835.1:p.Ile1458Ser missense NM_001407907.1:c.4373T>G NP_001394836.1:p.Ile1458Ser missense NM_001407908.1:c.4373T>G NP_001394837.1:p.Ile1458Ser missense NM_001407909.1:c.4373T>G NP_001394838.1:p.Ile1458Ser missense NM_001407910.1:c.4373T>G NP_001394839.1:p.Ile1458Ser missense NM_001407915.1:c.4370T>G NP_001394844.1:p.Ile1457Ser missense NM_001407916.1:c.4370T>G NP_001394845.1:p.Ile1457Ser missense NM_001407917.1:c.4370T>G NP_001394846.1:p.Ile1457Ser missense NM_001407918.1:c.4370T>G NP_001394847.1:p.Ile1457Ser missense NM_001407919.1:c.4463T>G NP_001394848.1:p.Ile1488Ser missense NM_001407920.1:c.4322T>G NP_001394849.1:p.Ile1441Ser missense NM_001407921.1:c.4322T>G NP_001394850.1:p.Ile1441Ser missense NM_001407922.1:c.4322T>G NP_001394851.1:p.Ile1441Ser missense NM_001407923.1:c.4322T>G NP_001394852.1:p.Ile1441Ser missense NM_001407924.1:c.4322T>G NP_001394853.1:p.Ile1441Ser missense NM_001407925.1:c.4322T>G NP_001394854.1:p.Ile1441Ser missense NM_001407926.1:c.4322T>G NP_001394855.1:p.Ile1441Ser missense NM_001407927.1:c.4319T>G NP_001394856.1:p.Ile1440Ser missense NM_001407928.1:c.4319T>G NP_001394857.1:p.Ile1440Ser missense NM_001407929.1:c.4319T>G NP_001394858.1:p.Ile1440Ser missense NM_001407930.1:c.4319T>G NP_001394859.1:p.Ile1440Ser missense NM_001407931.1:c.4319T>G NP_001394860.1:p.Ile1440Ser missense NM_001407932.1:c.4319T>G NP_001394861.1:p.Ile1440Ser missense NM_001407933.1:c.4319T>G NP_001394862.1:p.Ile1440Ser missense NM_001407934.1:c.4316T>G NP_001394863.1:p.Ile1439Ser missense NM_001407935.1:c.4316T>G NP_001394864.1:p.Ile1439Ser missense NM_001407936.1:c.4316T>G NP_001394865.1:p.Ile1439Ser missense NM_001407937.1:c.4463T>G NP_001394866.1:p.Ile1488Ser missense NM_001407938.1:c.4463T>G NP_001394867.1:p.Ile1488Ser missense NM_001407939.1:c.4460T>G NP_001394868.1:p.Ile1487Ser missense NM_001407940.1:c.4460T>G NP_001394869.1:p.Ile1487Ser missense NM_001407941.1:c.4457T>G NP_001394870.1:p.Ile1486Ser missense NM_001407942.1:c.4445T>G NP_001394871.1:p.Ile1482Ser missense NM_001407943.1:c.4442T>G NP_001394872.1:p.Ile1481Ser missense NM_001407944.1:c.4442T>G NP_001394873.1:p.Ile1481Ser missense NM_001407945.1:c.4442T>G NP_001394874.1:p.Ile1481Ser missense NM_001407946.1:c.4253T>G NP_001394875.1:p.Ile1418Ser missense NM_001407947.1:c.4253T>G NP_001394876.1:p.Ile1418Ser missense NM_001407948.1:c.4253T>G NP_001394877.1:p.Ile1418Ser missense NM_001407949.1:c.4253T>G NP_001394878.1:p.Ile1418Ser missense NM_001407950.1:c.4250T>G NP_001394879.1:p.Ile1417Ser missense NM_001407951.1:c.4250T>G NP_001394880.1:p.Ile1417Ser missense NM_001407952.1:c.4250T>G NP_001394881.1:p.Ile1417Ser missense NM_001407953.1:c.4250T>G NP_001394882.1:p.Ile1417Ser missense NM_001407954.1:c.4250T>G NP_001394883.1:p.Ile1417Ser missense NM_001407955.1:c.4250T>G NP_001394884.1:p.Ile1417Ser missense NM_001407956.1:c.4247T>G NP_001394885.1:p.Ile1416Ser missense NM_001407957.1:c.4247T>G NP_001394886.1:p.Ile1416Ser missense NM_001407958.1:c.4247T>G NP_001394887.1:p.Ile1416Ser missense NM_001407959.1:c.4205T>G NP_001394888.1:p.Ile1402Ser missense NM_001407960.1:c.4202T>G NP_001394889.1:p.Ile1401Ser missense NM_001407962.1:c.4202T>G NP_001394891.1:p.Ile1401Ser missense NM_001407963.1:c.4199T>G NP_001394892.1:p.Ile1400Ser missense NM_001407965.1:c.4079T>G NP_001394894.1:p.Ile1360Ser missense NM_001407966.1:c.3698T>G NP_001394895.1:p.Ile1233Ser missense NM_001407967.1:c.3695T>G NP_001394896.1:p.Ile1232Ser missense NM_001407968.1:c.1982T>G NP_001394897.1:p.Ile661Ser missense NM_001407969.1:c.1979T>G NP_001394898.1:p.Ile660Ser missense NM_001407970.1:c.1343T>G NP_001394899.1:p.Ile448Ser missense NM_001407971.1:c.1343T>G NP_001394900.1:p.Ile448Ser missense NM_001407972.1:c.1340T>G NP_001394901.1:p.Ile447Ser missense NM_001407973.1:c.1277T>G NP_001394902.1:p.Ile426Ser missense NM_001407974.1:c.1277T>G NP_001394903.1:p.Ile426Ser missense NM_001407975.1:c.1277T>G NP_001394904.1:p.Ile426Ser missense NM_001407976.1:c.1277T>G NP_001394905.1:p.Ile426Ser missense NM_001407977.1:c.1277T>G NP_001394906.1:p.Ile426Ser missense NM_001407978.1:c.1277T>G NP_001394907.1:p.Ile426Ser missense NM_001407979.1:c.1274T>G NP_001394908.1:p.Ile425Ser missense NM_001407980.1:c.1274T>G NP_001394909.1:p.Ile425Ser missense NM_001407981.1:c.1274T>G NP_001394910.1:p.Ile425Ser missense NM_001407982.1:c.1274T>G NP_001394911.1:p.Ile425Ser missense NM_001407983.1:c.1274T>G NP_001394912.1:p.Ile425Ser missense NM_001407984.1:c.1274T>G NP_001394913.1:p.Ile425Ser missense NM_001407985.1:c.1274T>G NP_001394914.1:p.Ile425Ser missense NM_001407986.1:c.1274T>G NP_001394915.1:p.Ile425Ser missense NM_001407990.1:c.1274T>G NP_001394919.1:p.Ile425Ser missense NM_001407991.1:c.1274T>G NP_001394920.1:p.Ile425Ser missense NM_001407992.1:c.1274T>G NP_001394921.1:p.Ile425Ser missense NM_001407993.1:c.1274T>G NP_001394922.1:p.Ile425Ser missense NM_001408392.1:c.1271T>G NP_001395321.1:p.Ile424Ser missense NM_001408396.1:c.1271T>G NP_001395325.1:p.Ile424Ser missense NM_001408397.1:c.1271T>G NP_001395326.1:p.Ile424Ser missense NM_001408398.1:c.1271T>G NP_001395327.1:p.Ile424Ser missense NM_001408399.1:c.1271T>G NP_001395328.1:p.Ile424Ser missense NM_001408400.1:c.1271T>G NP_001395329.1:p.Ile424Ser missense NM_001408401.1:c.1271T>G NP_001395330.1:p.Ile424Ser missense NM_001408402.1:c.1271T>G NP_001395331.1:p.Ile424Ser missense NM_001408403.1:c.1271T>G NP_001395332.1:p.Ile424Ser missense NM_001408404.1:c.1271T>G NP_001395333.1:p.Ile424Ser missense NM_001408406.1:c.1268T>G NP_001395335.1:p.Ile423Ser missense NM_001408407.1:c.1268T>G NP_001395336.1:p.Ile423Ser missense NM_001408408.1:c.1268T>G NP_001395337.1:p.Ile423Ser missense NM_001408409.1:c.1265T>G NP_001395338.1:p.Ile422Ser missense NM_001408410.1:c.1202T>G NP_001395339.1:p.Ile401Ser missense NM_001408411.1:c.1199T>G NP_001395340.1:p.Ile400Ser missense NM_001408412.1:c.1196T>G NP_001395341.1:p.Ile399Ser missense NM_001408413.1:c.1196T>G NP_001395342.1:p.Ile399Ser missense NM_001408414.1:c.1196T>G NP_001395343.1:p.Ile399Ser missense NM_001408415.1:c.1196T>G NP_001395344.1:p.Ile399Ser missense NM_001408416.1:c.1196T>G NP_001395345.1:p.Ile399Ser missense NM_001408418.1:c.1160T>G NP_001395347.1:p.Ile387Ser missense NM_001408419.1:c.1160T>G NP_001395348.1:p.Ile387Ser missense NM_001408420.1:c.1160T>G NP_001395349.1:p.Ile387Ser missense NM_001408421.1:c.1157T>G NP_001395350.1:p.Ile386Ser missense NM_001408422.1:c.1157T>G NP_001395351.1:p.Ile386Ser missense NM_001408423.1:c.1157T>G NP_001395352.1:p.Ile386Ser missense NM_001408424.1:c.1157T>G NP_001395353.1:p.Ile386Ser missense NM_001408425.1:c.1154T>G NP_001395354.1:p.Ile385Ser missense NM_001408426.1:c.1154T>G NP_001395355.1:p.Ile385Ser missense NM_001408427.1:c.1154T>G NP_001395356.1:p.Ile385Ser missense NM_001408428.1:c.1154T>G NP_001395357.1:p.Ile385Ser missense NM_001408429.1:c.1154T>G NP_001395358.1:p.Ile385Ser missense NM_001408430.1:c.1154T>G NP_001395359.1:p.Ile385Ser missense NM_001408431.1:c.1154T>G NP_001395360.1:p.Ile385Ser missense NM_001408432.1:c.1151T>G NP_001395361.1:p.Ile384Ser missense NM_001408433.1:c.1151T>G NP_001395362.1:p.Ile384Ser missense NM_001408434.1:c.1151T>G NP_001395363.1:p.Ile384Ser missense NM_001408435.1:c.1151T>G NP_001395364.1:p.Ile384Ser missense NM_001408436.1:c.1151T>G NP_001395365.1:p.Ile384Ser missense NM_001408437.1:c.1151T>G NP_001395366.1:p.Ile384Ser missense NM_001408438.1:c.1151T>G NP_001395367.1:p.Ile384Ser missense NM_001408439.1:c.1151T>G NP_001395368.1:p.Ile384Ser missense NM_001408440.1:c.1151T>G NP_001395369.1:p.Ile384Ser missense NM_001408441.1:c.1151T>G NP_001395370.1:p.Ile384Ser missense NM_001408442.1:c.1151T>G NP_001395371.1:p.Ile384Ser missense NM_001408443.1:c.1151T>G NP_001395372.1:p.Ile384Ser missense NM_001408444.1:c.1151T>G NP_001395373.1:p.Ile384Ser missense NM_001408445.1:c.1148T>G NP_001395374.1:p.Ile383Ser missense NM_001408446.1:c.1148T>G NP_001395375.1:p.Ile383Ser missense NM_001408447.1:c.1148T>G NP_001395376.1:p.Ile383Ser missense NM_001408448.1:c.1148T>G NP_001395377.1:p.Ile383Ser missense NM_001408450.1:c.1148T>G NP_001395379.1:p.Ile383Ser missense NM_001408451.1:c.1142T>G NP_001395380.1:p.Ile381Ser missense NM_001408452.1:c.1136T>G NP_001395381.1:p.Ile379Ser missense NM_001408453.1:c.1136T>G NP_001395382.1:p.Ile379Ser missense NM_001408454.1:c.1136T>G NP_001395383.1:p.Ile379Ser missense NM_001408455.1:c.1136T>G NP_001395384.1:p.Ile379Ser missense NM_001408456.1:c.1136T>G NP_001395385.1:p.Ile379Ser missense NM_001408457.1:c.1136T>G NP_001395386.1:p.Ile379Ser missense NM_001408458.1:c.1133T>G NP_001395387.1:p.Ile378Ser missense NM_001408459.1:c.1133T>G NP_001395388.1:p.Ile378Ser missense NM_001408460.1:c.1133T>G NP_001395389.1:p.Ile378Ser missense NM_001408461.1:c.1133T>G NP_001395390.1:p.Ile378Ser missense NM_001408462.1:c.1133T>G NP_001395391.1:p.Ile378Ser missense NM_001408463.1:c.1133T>G NP_001395392.1:p.Ile378Ser missense NM_001408464.1:c.1133T>G NP_001395393.1:p.Ile378Ser missense NM_001408465.1:c.1133T>G NP_001395394.1:p.Ile378Ser missense NM_001408466.1:c.1133T>G NP_001395395.1:p.Ile378Ser missense NM_001408467.1:c.1133T>G NP_001395396.1:p.Ile378Ser missense NM_001408468.1:c.1130T>G NP_001395397.1:p.Ile377Ser missense NM_001408469.1:c.1130T>G NP_001395398.1:p.Ile377Ser missense NM_001408470.1:c.1130T>G NP_001395399.1:p.Ile377Ser missense NM_001408472.1:c.1274T>G NP_001395401.1:p.Ile425Ser missense NM_001408473.1:c.1271T>G NP_001395402.1:p.Ile424Ser missense NM_001408474.1:c.1076T>G NP_001395403.1:p.Ile359Ser missense NM_001408475.1:c.1073T>G NP_001395404.1:p.Ile358Ser missense NM_001408476.1:c.1073T>G NP_001395405.1:p.Ile358Ser missense NM_001408478.1:c.1067T>G NP_001395407.1:p.Ile356Ser missense NM_001408479.1:c.1067T>G NP_001395408.1:p.Ile356Ser missense NM_001408480.1:c.1067T>G NP_001395409.1:p.Ile356Ser missense NM_001408481.1:c.1064T>G NP_001395410.1:p.Ile355Ser missense NM_001408482.1:c.1064T>G NP_001395411.1:p.Ile355Ser missense NM_001408483.1:c.1064T>G NP_001395412.1:p.Ile355Ser missense NM_001408484.1:c.1064T>G NP_001395413.1:p.Ile355Ser missense NM_001408485.1:c.1064T>G NP_001395414.1:p.Ile355Ser missense NM_001408489.1:c.1064T>G NP_001395418.1:p.Ile355Ser missense NM_001408490.1:c.1064T>G NP_001395419.1:p.Ile355Ser missense NM_001408491.1:c.1064T>G NP_001395420.1:p.Ile355Ser missense NM_001408492.1:c.1061T>G NP_001395421.1:p.Ile354Ser missense NM_001408493.1:c.1061T>G NP_001395422.1:p.Ile354Ser missense NM_001408494.1:c.1037T>G NP_001395423.1:p.Ile346Ser missense NM_001408495.1:c.1031T>G NP_001395424.1:p.Ile344Ser missense NM_001408496.1:c.1013T>G NP_001395425.1:p.Ile338Ser missense NM_001408497.1:c.1013T>G NP_001395426.1:p.Ile338Ser missense NM_001408498.1:c.1013T>G NP_001395427.1:p.Ile338Ser missense NM_001408499.1:c.1013T>G NP_001395428.1:p.Ile338Ser missense NM_001408500.1:c.1013T>G NP_001395429.1:p.Ile338Ser missense NM_001408501.1:c.1013T>G NP_001395430.1:p.Ile338Ser missense NM_001408502.1:c.1010T>G NP_001395431.1:p.Ile337Ser missense NM_001408503.1:c.1010T>G NP_001395432.1:p.Ile337Ser missense NM_001408504.1:c.1010T>G NP_001395433.1:p.Ile337Ser missense NM_001408505.1:c.1007T>G NP_001395434.1:p.Ile336Ser missense NM_001408506.1:c.950T>G NP_001395435.1:p.Ile317Ser missense NM_001408507.1:c.947T>G NP_001395436.1:p.Ile316Ser missense NM_001408508.1:c.938T>G NP_001395437.1:p.Ile313Ser missense NM_001408509.1:c.935T>G NP_001395438.1:p.Ile312Ser missense NM_001408510.1:c.896T>G NP_001395439.1:p.Ile299Ser missense NM_001408511.1:c.893T>G NP_001395440.1:p.Ile298Ser missense NM_001408512.1:c.773T>G NP_001395441.1:p.Ile258Ser missense NM_007297.4:c.4445T>G NP_009228.2:p.Ile1482Ser missense NM_007298.4:c.1274T>G NP_009229.2:p.Ile425Ser missense NM_007299.4:c.1274T>G NP_009230.2:p.Ile425Ser missense NM_007300.4:c.4649T>G NP_009231.2:p.Ile1550Ser missense NM_007304.2:c.1274T>G NP_009235.2:p.Ile425Ser missense NR_027676.2:n.4763T>G non-coding transcript variant NC_000017.11:g.43074420A>C NC_000017.10:g.41226437A>C NG_005905.2:g.143564T>G LRG_292:g.143564T>G LRG_292t1:c.4586T>G LRG_292p1:p.Ile1529Ser - Protein change
- I1482S, I1529S, I1550S, I425S, I1232S, I1401S, I1416S, I1440S, I1460S, I1485S, I1527S, I258S, I299S, I317S, I336S, I355S, I356S, I358S, I377S, I385S, I400S, I424S, I426S, I447S, I1233S, I1402S, I1417S, I1439S, I1462S, I1481S, I1487S, I1502S, I1525S, I1528S, I316S, I344S, I359S, I379S, I387S, I422S, I448S, I660S, I1441S, I1457S, I1458S, I1459S, I1480S, I1486S, I1488S, I1503S, I1510S, I1524S, I1549S, I312S, I313S, I338S, I381S, I383S, I384S, I399S, I1360S, I1400S, I1418S, I1501S, I1509S, I1526S, I1551S, I298S, I337S, I346S, I354S, I378S, I386S, I401S, I423S, I661S
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074419: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 |
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
|
Nov 1, 2022 | RCV001306891.8 |
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
(Nov 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001496278.5
First in ClinVar: Mar 07, 2021 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 1009406). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1529 of the BRCA1 protein (p.Ile1529Ser). (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:
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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 1009406). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1529 of the BRCA1 protein (p.Ile1529Ser).
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 rs1597836187 ...
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 Sep 29, 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.