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. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 1583 of the BRCA1 protein (p.Arg1583Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4749A>T (p.Arg1583Ser)
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.4749A>T (p.Arg1583Ser)
Variation ID: 1496674 Accession: VCV001496674.5
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071165 (GRCh38) [ NCBI UCSC ] 17: 41223182 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 28, 2022 Feb 20, 2024 Oct 13, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4749A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Arg1583Ser missense NM_001407571.1:c.4536A>T NP_001394500.1:p.Arg1512Ser missense NM_001407581.1:c.4815A>T NP_001394510.1:p.Arg1605Ser missense NM_001407582.1:c.4815A>T NP_001394511.1:p.Arg1605Ser missense NM_001407583.1:c.4812A>T NP_001394512.1:p.Arg1604Ser missense NM_001407585.1:c.4812A>T NP_001394514.1:p.Arg1604Ser missense NM_001407587.1:c.4812A>T NP_001394516.1:p.Arg1604Ser missense NM_001407590.1:c.4809A>T NP_001394519.1:p.Arg1603Ser missense NM_001407591.1:c.4809A>T NP_001394520.1:p.Arg1603Ser missense NM_001407593.1:c.4749A>T NP_001394522.1:p.Arg1583Ser missense NM_001407594.1:c.4749A>T NP_001394523.1:p.Arg1583Ser missense NM_001407596.1:c.4749A>T NP_001394525.1:p.Arg1583Ser missense NM_001407597.1:c.4749A>T NP_001394526.1:p.Arg1583Ser missense NM_001407598.1:c.4749A>T NP_001394527.1:p.Arg1583Ser missense NM_001407602.1:c.4749A>T NP_001394531.1:p.Arg1583Ser missense NM_001407603.1:c.4749A>T NP_001394532.1:p.Arg1583Ser missense NM_001407605.1:c.4749A>T NP_001394534.1:p.Arg1583Ser missense NM_001407610.1:c.4746A>T NP_001394539.1:p.Arg1582Ser missense NM_001407611.1:c.4746A>T NP_001394540.1:p.Arg1582Ser missense NM_001407612.1:c.4746A>T NP_001394541.1:p.Arg1582Ser missense NM_001407613.1:c.4746A>T NP_001394542.1:p.Arg1582Ser missense NM_001407614.1:c.4746A>T NP_001394543.1:p.Arg1582Ser missense NM_001407615.1:c.4746A>T NP_001394544.1:p.Arg1582Ser missense NM_001407616.1:c.4746A>T NP_001394545.1:p.Arg1582Ser missense NM_001407617.1:c.4746A>T NP_001394546.1:p.Arg1582Ser missense NM_001407618.1:c.4746A>T NP_001394547.1:p.Arg1582Ser missense NM_001407619.1:c.4746A>T NP_001394548.1:p.Arg1582Ser missense NM_001407620.1:c.4746A>T NP_001394549.1:p.Arg1582Ser missense NM_001407621.1:c.4746A>T NP_001394550.1:p.Arg1582Ser missense NM_001407622.1:c.4746A>T NP_001394551.1:p.Arg1582Ser missense NM_001407623.1:c.4746A>T NP_001394552.1:p.Arg1582Ser missense NM_001407624.1:c.4746A>T NP_001394553.1:p.Arg1582Ser missense NM_001407625.1:c.4746A>T NP_001394554.1:p.Arg1582Ser missense NM_001407626.1:c.4746A>T NP_001394555.1:p.Arg1582Ser missense NM_001407627.1:c.4743A>T NP_001394556.1:p.Arg1581Ser missense NM_001407628.1:c.4743A>T NP_001394557.1:p.Arg1581Ser missense NM_001407629.1:c.4743A>T NP_001394558.1:p.Arg1581Ser missense NM_001407630.1:c.4743A>T NP_001394559.1:p.Arg1581Ser missense NM_001407631.1:c.4743A>T NP_001394560.1:p.Arg1581Ser missense NM_001407632.1:c.4743A>T NP_001394561.1:p.Arg1581Ser missense NM_001407633.1:c.4743A>T NP_001394562.1:p.Arg1581Ser missense NM_001407634.1:c.4743A>T NP_001394563.1:p.Arg1581Ser missense NM_001407635.1:c.4743A>T NP_001394564.1:p.Arg1581Ser missense NM_001407636.1:c.4743A>T NP_001394565.1:p.Arg1581Ser missense NM_001407637.1:c.4743A>T NP_001394566.1:p.Arg1581Ser missense NM_001407638.1:c.4743A>T NP_001394567.1:p.Arg1581Ser missense NM_001407639.1:c.4743A>T NP_001394568.1:p.Arg1581Ser missense NM_001407640.1:c.4743A>T NP_001394569.1:p.Arg1581Ser missense NM_001407641.1:c.4743A>T NP_001394570.1:p.Arg1581Ser missense NM_001407642.1:c.4743A>T NP_001394571.1:p.Arg1581Ser missense NM_001407644.1:c.4740A>T NP_001394573.1:p.Arg1580Ser missense NM_001407645.1:c.4740A>T NP_001394574.1:p.Arg1580Ser missense NM_001407646.1:c.4737A>T NP_001394575.1:p.Arg1579Ser missense NM_001407647.1:c.4734A>T NP_001394576.1:p.Arg1578Ser missense NM_001407648.1:c.4692A>T NP_001394577.1:p.Arg1564Ser missense NM_001407649.1:c.4689A>T NP_001394578.1:p.Arg1563Ser missense NM_001407652.1:c.4749A>T NP_001394581.1:p.Arg1583Ser missense NM_001407653.1:c.4671A>T NP_001394582.1:p.Arg1557Ser missense NM_001407654.1:c.4671A>T NP_001394583.1:p.Arg1557Ser missense NM_001407655.1:c.4671A>T NP_001394584.1:p.Arg1557Ser missense NM_001407656.1:c.4668A>T NP_001394585.1:p.Arg1556Ser missense NM_001407657.1:c.4668A>T NP_001394586.1:p.Arg1556Ser missense NM_001407658.1:c.4668A>T NP_001394587.1:p.Arg1556Ser missense NM_001407659.1:c.4665A>T NP_001394588.1:p.Arg1555Ser missense NM_001407660.1:c.4665A>T NP_001394589.1:p.Arg1555Ser missense NM_001407661.1:c.4665A>T NP_001394590.1:p.Arg1555Ser missense NM_001407662.1:c.4665A>T NP_001394591.1:p.Arg1555Ser missense NM_001407663.1:c.4665A>T NP_001394592.1:p.Arg1555Ser missense NM_001407664.1:c.4626A>T NP_001394593.1:p.Arg1542Ser missense NM_001407665.1:c.4626A>T NP_001394594.1:p.Arg1542Ser missense NM_001407666.1:c.4626A>T NP_001394595.1:p.Arg1542Ser missense NM_001407667.1:c.4626A>T NP_001394596.1:p.Arg1542Ser missense NM_001407668.1:c.4626A>T NP_001394597.1:p.Arg1542Ser missense NM_001407669.1:c.4626A>T NP_001394598.1:p.Arg1542Ser missense NM_001407670.1:c.4623A>T NP_001394599.1:p.Arg1541Ser missense NM_001407671.1:c.4623A>T NP_001394600.1:p.Arg1541Ser missense NM_001407672.1:c.4623A>T NP_001394601.1:p.Arg1541Ser missense NM_001407673.1:c.4623A>T NP_001394602.1:p.Arg1541Ser missense NM_001407674.1:c.4623A>T NP_001394603.1:p.Arg1541Ser missense NM_001407675.1:c.4623A>T NP_001394604.1:p.Arg1541Ser missense NM_001407676.1:c.4623A>T NP_001394605.1:p.Arg1541Ser missense NM_001407677.1:c.4623A>T NP_001394606.1:p.Arg1541Ser missense NM_001407678.1:c.4623A>T NP_001394607.1:p.Arg1541Ser missense NM_001407679.1:c.4623A>T NP_001394608.1:p.Arg1541Ser missense NM_001407680.1:c.4623A>T NP_001394609.1:p.Arg1541Ser missense NM_001407681.1:c.4620A>T NP_001394610.1:p.Arg1540Ser missense NM_001407682.1:c.4620A>T NP_001394611.1:p.Arg1540Ser missense NM_001407683.1:c.4620A>T NP_001394612.1:p.Arg1540Ser missense NM_001407684.1:c.4749A>T NP_001394613.1:p.Arg1583Ser missense NM_001407685.1:c.4620A>T NP_001394614.1:p.Arg1540Ser missense NM_001407686.1:c.4620A>T NP_001394615.1:p.Arg1540Ser missense NM_001407687.1:c.4620A>T NP_001394616.1:p.Arg1540Ser missense NM_001407688.1:c.4620A>T NP_001394617.1:p.Arg1540Ser missense NM_001407689.1:c.4620A>T NP_001394618.1:p.Arg1540Ser missense NM_001407690.1:c.4617A>T NP_001394619.1:p.Arg1539Ser missense NM_001407691.1:c.4617A>T NP_001394620.1:p.Arg1539Ser missense NM_001407692.1:c.4608A>T NP_001394621.1:p.Arg1536Ser missense NM_001407694.1:c.4608A>T NP_001394623.1:p.Arg1536Ser missense NM_001407695.1:c.4608A>T NP_001394624.1:p.Arg1536Ser missense NM_001407696.1:c.4608A>T NP_001394625.1:p.Arg1536Ser missense NM_001407697.1:c.4608A>T NP_001394626.1:p.Arg1536Ser missense NM_001407698.1:c.4608A>T NP_001394627.1:p.Arg1536Ser missense NM_001407724.1:c.4608A>T NP_001394653.1:p.Arg1536Ser missense NM_001407725.1:c.4608A>T NP_001394654.1:p.Arg1536Ser missense NM_001407726.1:c.4608A>T NP_001394655.1:p.Arg1536Ser missense NM_001407727.1:c.4608A>T NP_001394656.1:p.Arg1536Ser missense NM_001407728.1:c.4608A>T NP_001394657.1:p.Arg1536Ser missense NM_001407729.1:c.4608A>T NP_001394658.1:p.Arg1536Ser missense NM_001407730.1:c.4608A>T NP_001394659.1:p.Arg1536Ser missense NM_001407731.1:c.4608A>T NP_001394660.1:p.Arg1536Ser missense NM_001407732.1:c.4605A>T NP_001394661.1:p.Arg1535Ser missense NM_001407733.1:c.4605A>T NP_001394662.1:p.Arg1535Ser missense NM_001407734.1:c.4605A>T NP_001394663.1:p.Arg1535Ser missense NM_001407735.1:c.4605A>T NP_001394664.1:p.Arg1535Ser missense NM_001407736.1:c.4605A>T NP_001394665.1:p.Arg1535Ser missense NM_001407737.1:c.4605A>T NP_001394666.1:p.Arg1535Ser missense NM_001407738.1:c.4605A>T NP_001394667.1:p.Arg1535Ser missense NM_001407739.1:c.4605A>T NP_001394668.1:p.Arg1535Ser missense NM_001407740.1:c.4605A>T NP_001394669.1:p.Arg1535Ser missense NM_001407741.1:c.4605A>T NP_001394670.1:p.Arg1535Ser missense NM_001407742.1:c.4605A>T NP_001394671.1:p.Arg1535Ser missense NM_001407743.1:c.4605A>T NP_001394672.1:p.Arg1535Ser missense NM_001407744.1:c.4605A>T NP_001394673.1:p.Arg1535Ser missense NM_001407745.1:c.4605A>T NP_001394674.1:p.Arg1535Ser missense NM_001407746.1:c.4605A>T NP_001394675.1:p.Arg1535Ser missense NM_001407747.1:c.4605A>T NP_001394676.1:p.Arg1535Ser missense NM_001407748.1:c.4605A>T NP_001394677.1:p.Arg1535Ser missense NM_001407749.1:c.4605A>T NP_001394678.1:p.Arg1535Ser missense NM_001407750.1:c.4605A>T NP_001394679.1:p.Arg1535Ser missense NM_001407751.1:c.4605A>T NP_001394680.1:p.Arg1535Ser missense NM_001407752.1:c.4605A>T NP_001394681.1:p.Arg1535Ser missense NM_001407838.1:c.4602A>T NP_001394767.1:p.Arg1534Ser missense NM_001407839.1:c.4602A>T NP_001394768.1:p.Arg1534Ser missense NM_001407841.1:c.4602A>T NP_001394770.1:p.Arg1534Ser missense NM_001407842.1:c.4602A>T NP_001394771.1:p.Arg1534Ser missense NM_001407843.1:c.4602A>T NP_001394772.1:p.Arg1534Ser missense NM_001407844.1:c.4602A>T NP_001394773.1:p.Arg1534Ser missense NM_001407845.1:c.4602A>T NP_001394774.1:p.Arg1534Ser missense NM_001407846.1:c.4602A>T NP_001394775.1:p.Arg1534Ser missense NM_001407847.1:c.4602A>T NP_001394776.1:p.Arg1534Ser missense NM_001407848.1:c.4602A>T NP_001394777.1:p.Arg1534Ser missense NM_001407849.1:c.4602A>T NP_001394778.1:p.Arg1534Ser missense NM_001407850.1:c.4602A>T NP_001394779.1:p.Arg1534Ser missense NM_001407851.1:c.4602A>T NP_001394780.1:p.Arg1534Ser missense NM_001407852.1:c.4602A>T NP_001394781.1:p.Arg1534Ser missense NM_001407853.1:c.4602A>T NP_001394782.1:p.Arg1534Ser missense NM_001407854.1:c.4749A>T NP_001394783.1:p.Arg1583Ser missense NM_001407858.1:c.4746A>T NP_001394787.1:p.Arg1582Ser missense NM_001407859.1:c.4746A>T NP_001394788.1:p.Arg1582Ser missense NM_001407860.1:c.4746A>T NP_001394789.1:p.Arg1582Ser missense NM_001407861.1:c.4743A>T NP_001394790.1:p.Arg1581Ser missense NM_001407862.1:c.4548A>T NP_001394791.1:p.Arg1516Ser missense NM_001407863.1:c.4623A>T NP_001394792.1:p.Arg1541Ser missense NM_001407874.1:c.4542A>T NP_001394803.1:p.Arg1514Ser missense NM_001407875.1:c.4542A>T NP_001394804.1:p.Arg1514Ser missense NM_001407879.1:c.4539A>T NP_001394808.1:p.Arg1513Ser missense NM_001407881.1:c.4539A>T NP_001394810.1:p.Arg1513Ser missense NM_001407882.1:c.4539A>T NP_001394811.1:p.Arg1513Ser missense NM_001407884.1:c.4539A>T NP_001394813.1:p.Arg1513Ser missense NM_001407885.1:c.4539A>T NP_001394814.1:p.Arg1513Ser missense NM_001407886.1:c.4539A>T NP_001394815.1:p.Arg1513Ser missense NM_001407887.1:c.4539A>T NP_001394816.1:p.Arg1513Ser missense NM_001407889.1:c.4539A>T NP_001394818.1:p.Arg1513Ser missense NM_001407894.1:c.4536A>T NP_001394823.1:p.Arg1512Ser missense NM_001407895.1:c.4536A>T NP_001394824.1:p.Arg1512Ser missense NM_001407896.1:c.4536A>T NP_001394825.1:p.Arg1512Ser missense NM_001407897.1:c.4536A>T NP_001394826.1:p.Arg1512Ser missense NM_001407898.1:c.4536A>T NP_001394827.1:p.Arg1512Ser missense NM_001407899.1:c.4536A>T NP_001394828.1:p.Arg1512Ser missense NM_001407900.1:c.4536A>T NP_001394829.1:p.Arg1512Ser missense NM_001407902.1:c.4536A>T NP_001394831.1:p.Arg1512Ser missense NM_001407904.1:c.4536A>T NP_001394833.1:p.Arg1512Ser missense NM_001407906.1:c.4536A>T NP_001394835.1:p.Arg1512Ser missense NM_001407907.1:c.4536A>T NP_001394836.1:p.Arg1512Ser missense NM_001407908.1:c.4536A>T NP_001394837.1:p.Arg1512Ser missense NM_001407909.1:c.4536A>T NP_001394838.1:p.Arg1512Ser missense NM_001407910.1:c.4536A>T NP_001394839.1:p.Arg1512Ser missense NM_001407915.1:c.4533A>T NP_001394844.1:p.Arg1511Ser missense NM_001407916.1:c.4533A>T NP_001394845.1:p.Arg1511Ser missense NM_001407917.1:c.4533A>T NP_001394846.1:p.Arg1511Ser missense NM_001407918.1:c.4533A>T NP_001394847.1:p.Arg1511Ser missense NM_001407919.1:c.4626A>T NP_001394848.1:p.Arg1542Ser missense NM_001407920.1:c.4485A>T NP_001394849.1:p.Arg1495Ser missense NM_001407921.1:c.4485A>T NP_001394850.1:p.Arg1495Ser missense NM_001407922.1:c.4485A>T NP_001394851.1:p.Arg1495Ser missense NM_001407923.1:c.4485A>T NP_001394852.1:p.Arg1495Ser missense NM_001407924.1:c.4485A>T NP_001394853.1:p.Arg1495Ser missense NM_001407925.1:c.4485A>T NP_001394854.1:p.Arg1495Ser missense NM_001407926.1:c.4485A>T NP_001394855.1:p.Arg1495Ser missense NM_001407927.1:c.4482A>T NP_001394856.1:p.Arg1494Ser missense NM_001407928.1:c.4482A>T NP_001394857.1:p.Arg1494Ser missense NM_001407929.1:c.4482A>T NP_001394858.1:p.Arg1494Ser missense NM_001407930.1:c.4482A>T NP_001394859.1:p.Arg1494Ser missense NM_001407931.1:c.4482A>T NP_001394860.1:p.Arg1494Ser missense NM_001407932.1:c.4482A>T NP_001394861.1:p.Arg1494Ser missense NM_001407933.1:c.4482A>T NP_001394862.1:p.Arg1494Ser missense NM_001407934.1:c.4479A>T NP_001394863.1:p.Arg1493Ser missense NM_001407935.1:c.4479A>T NP_001394864.1:p.Arg1493Ser missense NM_001407936.1:c.4479A>T NP_001394865.1:p.Arg1493Ser missense NM_001407937.1:c.4626A>T NP_001394866.1:p.Arg1542Ser missense NM_001407938.1:c.4626A>T NP_001394867.1:p.Arg1542Ser missense NM_001407939.1:c.4623A>T NP_001394868.1:p.Arg1541Ser missense NM_001407940.1:c.4623A>T NP_001394869.1:p.Arg1541Ser missense NM_001407941.1:c.4620A>T NP_001394870.1:p.Arg1540Ser missense NM_001407942.1:c.4608A>T NP_001394871.1:p.Arg1536Ser missense NM_001407943.1:c.4605A>T NP_001394872.1:p.Arg1535Ser missense NM_001407944.1:c.4605A>T NP_001394873.1:p.Arg1535Ser missense NM_001407945.1:c.4605A>T NP_001394874.1:p.Arg1535Ser missense NM_001407946.1:c.4416A>T NP_001394875.1:p.Arg1472Ser missense NM_001407947.1:c.4416A>T NP_001394876.1:p.Arg1472Ser missense NM_001407948.1:c.4416A>T NP_001394877.1:p.Arg1472Ser missense NM_001407949.1:c.4416A>T NP_001394878.1:p.Arg1472Ser missense NM_001407950.1:c.4413A>T NP_001394879.1:p.Arg1471Ser missense NM_001407951.1:c.4413A>T NP_001394880.1:p.Arg1471Ser missense NM_001407952.1:c.4413A>T NP_001394881.1:p.Arg1471Ser missense NM_001407953.1:c.4413A>T NP_001394882.1:p.Arg1471Ser missense NM_001407954.1:c.4413A>T NP_001394883.1:p.Arg1471Ser missense NM_001407955.1:c.4413A>T NP_001394884.1:p.Arg1471Ser missense NM_001407956.1:c.4410A>T NP_001394885.1:p.Arg1470Ser missense NM_001407957.1:c.4410A>T NP_001394886.1:p.Arg1470Ser missense NM_001407958.1:c.4410A>T NP_001394887.1:p.Arg1470Ser missense NM_001407959.1:c.4368A>T NP_001394888.1:p.Arg1456Ser missense NM_001407960.1:c.4365A>T NP_001394889.1:p.Arg1455Ser missense NM_001407962.1:c.4365A>T NP_001394891.1:p.Arg1455Ser missense NM_001407963.1:c.4362A>T NP_001394892.1:p.Arg1454Ser missense NM_001407964.1:c.4287A>T NP_001394893.1:p.Arg1429Ser missense NM_001407965.1:c.4242A>T NP_001394894.1:p.Arg1414Ser missense NM_001407966.1:c.3861A>T NP_001394895.1:p.Arg1287Ser missense NM_001407967.1:c.3858A>T NP_001394896.1:p.Arg1286Ser missense NM_001407968.1:c.2145A>T NP_001394897.1:p.Arg715Ser missense NM_001407969.1:c.2142A>T NP_001394898.1:p.Arg714Ser missense NM_001407970.1:c.1506A>T NP_001394899.1:p.Arg502Ser missense NM_001407971.1:c.1506A>T NP_001394900.1:p.Arg502Ser missense NM_001407972.1:c.1503A>T NP_001394901.1:p.Arg501Ser missense NM_001407973.1:c.1440A>T NP_001394902.1:p.Arg480Ser missense NM_001407974.1:c.1440A>T NP_001394903.1:p.Arg480Ser missense NM_001407975.1:c.1440A>T NP_001394904.1:p.Arg480Ser missense NM_001407976.1:c.1440A>T NP_001394905.1:p.Arg480Ser missense NM_001407977.1:c.1440A>T NP_001394906.1:p.Arg480Ser missense NM_001407978.1:c.1440A>T NP_001394907.1:p.Arg480Ser missense NM_001407979.1:c.1437A>T NP_001394908.1:p.Arg479Ser missense NM_001407980.1:c.1437A>T NP_001394909.1:p.Arg479Ser missense NM_001407981.1:c.1437A>T NP_001394910.1:p.Arg479Ser missense NM_001407982.1:c.1437A>T NP_001394911.1:p.Arg479Ser missense NM_001407983.1:c.1437A>T NP_001394912.1:p.Arg479Ser missense NM_001407984.1:c.1437A>T NP_001394913.1:p.Arg479Ser missense NM_001407985.1:c.1437A>T NP_001394914.1:p.Arg479Ser missense NM_001407986.1:c.1437A>T NP_001394915.1:p.Arg479Ser missense NM_001407990.1:c.1437A>T NP_001394919.1:p.Arg479Ser missense NM_001407991.1:c.1437A>T NP_001394920.1:p.Arg479Ser missense NM_001407992.1:c.1437A>T NP_001394921.1:p.Arg479Ser missense NM_001407993.1:c.1437A>T NP_001394922.1:p.Arg479Ser missense NM_001408392.1:c.1434A>T NP_001395321.1:p.Arg478Ser missense NM_001408396.1:c.1434A>T NP_001395325.1:p.Arg478Ser missense NM_001408397.1:c.1434A>T NP_001395326.1:p.Arg478Ser missense NM_001408398.1:c.1434A>T NP_001395327.1:p.Arg478Ser missense NM_001408399.1:c.1434A>T NP_001395328.1:p.Arg478Ser missense NM_001408400.1:c.1434A>T NP_001395329.1:p.Arg478Ser missense NM_001408401.1:c.1434A>T NP_001395330.1:p.Arg478Ser missense NM_001408402.1:c.1434A>T NP_001395331.1:p.Arg478Ser missense NM_001408403.1:c.1434A>T NP_001395332.1:p.Arg478Ser missense NM_001408404.1:c.1434A>T NP_001395333.1:p.Arg478Ser missense NM_001408406.1:c.1431A>T NP_001395335.1:p.Arg477Ser missense NM_001408407.1:c.1431A>T NP_001395336.1:p.Arg477Ser missense NM_001408408.1:c.1431A>T NP_001395337.1:p.Arg477Ser missense NM_001408409.1:c.1428A>T NP_001395338.1:p.Arg476Ser missense NM_001408410.1:c.1365A>T NP_001395339.1:p.Arg455Ser missense NM_001408411.1:c.1362A>T NP_001395340.1:p.Arg454Ser missense NM_001408412.1:c.1359A>T NP_001395341.1:p.Arg453Ser missense NM_001408413.1:c.1359A>T NP_001395342.1:p.Arg453Ser missense NM_001408414.1:c.1359A>T NP_001395343.1:p.Arg453Ser missense NM_001408415.1:c.1359A>T NP_001395344.1:p.Arg453Ser missense NM_001408416.1:c.1359A>T NP_001395345.1:p.Arg453Ser missense NM_001408418.1:c.1323A>T NP_001395347.1:p.Arg441Ser missense NM_001408419.1:c.1323A>T NP_001395348.1:p.Arg441Ser missense NM_001408420.1:c.1323A>T NP_001395349.1:p.Arg441Ser missense NM_001408421.1:c.1320A>T NP_001395350.1:p.Arg440Ser missense NM_001408422.1:c.1320A>T NP_001395351.1:p.Arg440Ser missense NM_001408423.1:c.1320A>T NP_001395352.1:p.Arg440Ser missense NM_001408424.1:c.1320A>T NP_001395353.1:p.Arg440Ser missense NM_001408425.1:c.1317A>T NP_001395354.1:p.Arg439Ser missense NM_001408426.1:c.1317A>T NP_001395355.1:p.Arg439Ser missense NM_001408427.1:c.1317A>T NP_001395356.1:p.Arg439Ser missense NM_001408428.1:c.1317A>T NP_001395357.1:p.Arg439Ser missense NM_001408429.1:c.1317A>T NP_001395358.1:p.Arg439Ser missense NM_001408430.1:c.1317A>T NP_001395359.1:p.Arg439Ser missense NM_001408431.1:c.1317A>T NP_001395360.1:p.Arg439Ser missense NM_001408432.1:c.1314A>T NP_001395361.1:p.Arg438Ser missense NM_001408433.1:c.1314A>T NP_001395362.1:p.Arg438Ser missense NM_001408434.1:c.1314A>T NP_001395363.1:p.Arg438Ser missense NM_001408435.1:c.1314A>T NP_001395364.1:p.Arg438Ser missense NM_001408436.1:c.1314A>T NP_001395365.1:p.Arg438Ser missense NM_001408437.1:c.1314A>T NP_001395366.1:p.Arg438Ser missense NM_001408438.1:c.1314A>T NP_001395367.1:p.Arg438Ser missense NM_001408439.1:c.1314A>T NP_001395368.1:p.Arg438Ser missense NM_001408440.1:c.1314A>T NP_001395369.1:p.Arg438Ser missense NM_001408441.1:c.1314A>T NP_001395370.1:p.Arg438Ser missense NM_001408442.1:c.1314A>T NP_001395371.1:p.Arg438Ser missense NM_001408443.1:c.1314A>T NP_001395372.1:p.Arg438Ser missense NM_001408444.1:c.1314A>T NP_001395373.1:p.Arg438Ser missense NM_001408445.1:c.1311A>T NP_001395374.1:p.Arg437Ser missense NM_001408446.1:c.1311A>T NP_001395375.1:p.Arg437Ser missense NM_001408447.1:c.1311A>T NP_001395376.1:p.Arg437Ser missense NM_001408448.1:c.1311A>T NP_001395377.1:p.Arg437Ser missense NM_001408450.1:c.1311A>T NP_001395379.1:p.Arg437Ser missense NM_001408451.1:c.1305A>T NP_001395380.1:p.Arg435Ser missense NM_001408452.1:c.1299A>T NP_001395381.1:p.Arg433Ser missense NM_001408453.1:c.1299A>T NP_001395382.1:p.Arg433Ser missense NM_001408454.1:c.1299A>T NP_001395383.1:p.Arg433Ser missense NM_001408455.1:c.1299A>T NP_001395384.1:p.Arg433Ser missense NM_001408456.1:c.1299A>T NP_001395385.1:p.Arg433Ser missense NM_001408457.1:c.1299A>T NP_001395386.1:p.Arg433Ser missense NM_001408458.1:c.1296A>T NP_001395387.1:p.Arg432Ser missense NM_001408459.1:c.1296A>T NP_001395388.1:p.Arg432Ser missense NM_001408460.1:c.1296A>T NP_001395389.1:p.Arg432Ser missense NM_001408461.1:c.1296A>T NP_001395390.1:p.Arg432Ser missense NM_001408462.1:c.1296A>T NP_001395391.1:p.Arg432Ser missense NM_001408463.1:c.1296A>T NP_001395392.1:p.Arg432Ser missense NM_001408464.1:c.1296A>T NP_001395393.1:p.Arg432Ser missense NM_001408465.1:c.1296A>T NP_001395394.1:p.Arg432Ser missense NM_001408466.1:c.1296A>T NP_001395395.1:p.Arg432Ser missense NM_001408467.1:c.1296A>T NP_001395396.1:p.Arg432Ser missense NM_001408468.1:c.1293A>T NP_001395397.1:p.Arg431Ser missense NM_001408469.1:c.1293A>T NP_001395398.1:p.Arg431Ser missense NM_001408470.1:c.1293A>T NP_001395399.1:p.Arg431Ser missense NM_001408472.1:c.1437A>T NP_001395401.1:p.Arg479Ser missense NM_001408473.1:c.1434A>T NP_001395402.1:p.Arg478Ser missense NM_001408474.1:c.1239A>T NP_001395403.1:p.Arg413Ser missense NM_001408475.1:c.1236A>T NP_001395404.1:p.Arg412Ser missense NM_001408476.1:c.1236A>T NP_001395405.1:p.Arg412Ser missense NM_001408478.1:c.1230A>T NP_001395407.1:p.Arg410Ser missense NM_001408479.1:c.1230A>T NP_001395408.1:p.Arg410Ser missense NM_001408480.1:c.1230A>T NP_001395409.1:p.Arg410Ser missense NM_001408481.1:c.1227A>T NP_001395410.1:p.Arg409Ser missense NM_001408482.1:c.1227A>T NP_001395411.1:p.Arg409Ser missense NM_001408483.1:c.1227A>T NP_001395412.1:p.Arg409Ser missense NM_001408484.1:c.1227A>T NP_001395413.1:p.Arg409Ser missense NM_001408485.1:c.1227A>T NP_001395414.1:p.Arg409Ser missense NM_001408489.1:c.1227A>T NP_001395418.1:p.Arg409Ser missense NM_001408490.1:c.1227A>T NP_001395419.1:p.Arg409Ser missense NM_001408491.1:c.1227A>T NP_001395420.1:p.Arg409Ser missense NM_001408492.1:c.1224A>T NP_001395421.1:p.Arg408Ser missense NM_001408493.1:c.1224A>T NP_001395422.1:p.Arg408Ser missense NM_001408494.1:c.1200A>T NP_001395423.1:p.Arg400Ser missense NM_001408495.1:c.1194A>T NP_001395424.1:p.Arg398Ser missense NM_001408496.1:c.1176A>T NP_001395425.1:p.Arg392Ser missense NM_001408497.1:c.1176A>T NP_001395426.1:p.Arg392Ser missense NM_001408498.1:c.1176A>T NP_001395427.1:p.Arg392Ser missense NM_001408499.1:c.1176A>T NP_001395428.1:p.Arg392Ser missense NM_001408500.1:c.1176A>T NP_001395429.1:p.Arg392Ser missense NM_001408501.1:c.1176A>T NP_001395430.1:p.Arg392Ser missense NM_001408502.1:c.1173A>T NP_001395431.1:p.Arg391Ser missense NM_001408503.1:c.1173A>T NP_001395432.1:p.Arg391Ser missense NM_001408504.1:c.1173A>T NP_001395433.1:p.Arg391Ser missense NM_001408505.1:c.1170A>T NP_001395434.1:p.Arg390Ser missense NM_001408506.1:c.1113A>T NP_001395435.1:p.Arg371Ser missense NM_001408507.1:c.1110A>T NP_001395436.1:p.Arg370Ser missense NM_001408508.1:c.1101A>T NP_001395437.1:p.Arg367Ser missense NM_001408509.1:c.1098A>T NP_001395438.1:p.Arg366Ser missense NM_001408510.1:c.1059A>T NP_001395439.1:p.Arg353Ser missense NM_001408511.1:c.1056A>T NP_001395440.1:p.Arg352Ser missense NM_001408512.1:c.936A>T NP_001395441.1:p.Arg312Ser missense NM_001408513.1:c.909A>T NP_001395442.1:p.Arg303Ser missense NM_007297.4:c.4608A>T NP_009228.2:p.Arg1536Ser missense NM_007298.4:c.1437A>T NP_009229.2:p.Arg479Ser missense NM_007299.4:c.1437A>T NP_009230.2:p.Arg479Ser missense NM_007300.4:c.4812A>T NP_009231.2:p.Arg1604Ser missense NM_007304.2:c.1437A>T NP_009235.2:p.Arg479Ser missense NR_027676.2:n.4926A>T non-coding transcript variant NC_000017.11:g.43071165T>A NC_000017.10:g.41223182T>A NG_005905.2:g.146819A>T LRG_292:g.146819A>T LRG_292t1:c.4749A>T LRG_292p1:p.Arg1583Ser - Protein change
- R1536S, R1583S, R1604S, R479S, R1454S, R1494S, R1511S, R1514S, R1539S, R1580S, R1582S, R1603S, R391S, R392S, R398S, R400S, R413S, R435S, R437S, R441S, R454S, R714S, R715S, R1455S, R1456S, R1472S, R1495S, R1512S, R1513S, R1541S, R1542S, R1563S, R1579S, R1581S, R303S, R312S, R352S, R353S, R410S, R412S, R431S, R438S, R439S, R440S, R478S, R480S, R502S, R1286S, R1287S, R1470S, R1471S, R1535S, R1555S, R1557S, R1578S, R1605S, R366S, R367S, R370S, R390S, R453S, R476S, R477S, R501S, R1414S, R1429S, R1493S, R1516S, R1534S, R1540S, R1556S, R1564S, R371S, R408S, R409S, R432S, R433S, R455S
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071164:T:A
-
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
|
Oct 13, 2021 | RCV001992001.5 |
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 13, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV002285149.3
First in ClinVar: Mar 28, 2022 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. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 1583 of the BRCA1 protein (p.Arg1583Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. (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. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 1583 of the BRCA1 protein (p.Arg1583Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine.
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 rs1597831609 ...
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.