This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. 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 is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1550 of the BRCA1 protein (p.Thr1550Ser).
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4648A>T (p.Thr1550Ser)
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.4648A>T (p.Thr1550Ser)
Variation ID: 2045176 Accession: VCV002045176.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074358 (GRCh38) [ NCBI UCSC ] 17: 41226375 (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 Feb 8, 2023 Feb 20, 2024 Dec 17, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4648A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1550Ser missense NM_001407571.1:c.4435A>T NP_001394500.1:p.Thr1479Ser missense NM_001407581.1:c.4714A>T NP_001394510.1:p.Thr1572Ser missense NM_001407582.1:c.4714A>T NP_001394511.1:p.Thr1572Ser missense NM_001407583.1:c.4711A>T NP_001394512.1:p.Thr1571Ser missense NM_001407585.1:c.4711A>T NP_001394514.1:p.Thr1571Ser missense NM_001407587.1:c.4711A>T NP_001394516.1:p.Thr1571Ser missense NM_001407590.1:c.4708A>T NP_001394519.1:p.Thr1570Ser missense NM_001407591.1:c.4708A>T NP_001394520.1:p.Thr1570Ser missense NM_001407593.1:c.4648A>T NP_001394522.1:p.Thr1550Ser missense NM_001407594.1:c.4648A>T NP_001394523.1:p.Thr1550Ser missense NM_001407596.1:c.4648A>T NP_001394525.1:p.Thr1550Ser missense NM_001407597.1:c.4648A>T NP_001394526.1:p.Thr1550Ser missense NM_001407598.1:c.4648A>T NP_001394527.1:p.Thr1550Ser missense NM_001407602.1:c.4648A>T NP_001394531.1:p.Thr1550Ser missense NM_001407603.1:c.4648A>T NP_001394532.1:p.Thr1550Ser missense NM_001407605.1:c.4648A>T NP_001394534.1:p.Thr1550Ser missense NM_001407610.1:c.4645A>T NP_001394539.1:p.Thr1549Ser missense NM_001407611.1:c.4645A>T NP_001394540.1:p.Thr1549Ser missense NM_001407612.1:c.4645A>T NP_001394541.1:p.Thr1549Ser missense NM_001407613.1:c.4645A>T NP_001394542.1:p.Thr1549Ser missense NM_001407614.1:c.4645A>T NP_001394543.1:p.Thr1549Ser missense NM_001407615.1:c.4645A>T NP_001394544.1:p.Thr1549Ser missense NM_001407616.1:c.4645A>T NP_001394545.1:p.Thr1549Ser missense NM_001407617.1:c.4645A>T NP_001394546.1:p.Thr1549Ser missense NM_001407618.1:c.4645A>T NP_001394547.1:p.Thr1549Ser missense NM_001407619.1:c.4645A>T NP_001394548.1:p.Thr1549Ser missense NM_001407620.1:c.4645A>T NP_001394549.1:p.Thr1549Ser missense NM_001407621.1:c.4645A>T NP_001394550.1:p.Thr1549Ser missense NM_001407622.1:c.4645A>T NP_001394551.1:p.Thr1549Ser missense NM_001407623.1:c.4645A>T NP_001394552.1:p.Thr1549Ser missense NM_001407624.1:c.4645A>T NP_001394553.1:p.Thr1549Ser missense NM_001407625.1:c.4645A>T NP_001394554.1:p.Thr1549Ser missense NM_001407626.1:c.4645A>T NP_001394555.1:p.Thr1549Ser missense NM_001407627.1:c.4642A>T NP_001394556.1:p.Thr1548Ser missense NM_001407628.1:c.4642A>T NP_001394557.1:p.Thr1548Ser missense NM_001407629.1:c.4642A>T NP_001394558.1:p.Thr1548Ser missense NM_001407630.1:c.4642A>T NP_001394559.1:p.Thr1548Ser missense NM_001407631.1:c.4642A>T NP_001394560.1:p.Thr1548Ser missense NM_001407632.1:c.4642A>T NP_001394561.1:p.Thr1548Ser missense NM_001407633.1:c.4642A>T NP_001394562.1:p.Thr1548Ser missense NM_001407634.1:c.4642A>T NP_001394563.1:p.Thr1548Ser missense NM_001407635.1:c.4642A>T NP_001394564.1:p.Thr1548Ser missense NM_001407636.1:c.4642A>T NP_001394565.1:p.Thr1548Ser missense NM_001407637.1:c.4642A>T NP_001394566.1:p.Thr1548Ser missense NM_001407638.1:c.4642A>T NP_001394567.1:p.Thr1548Ser missense NM_001407639.1:c.4642A>T NP_001394568.1:p.Thr1548Ser missense NM_001407640.1:c.4642A>T NP_001394569.1:p.Thr1548Ser missense NM_001407641.1:c.4642A>T NP_001394570.1:p.Thr1548Ser missense NM_001407642.1:c.4642A>T NP_001394571.1:p.Thr1548Ser missense NM_001407644.1:c.4639A>T NP_001394573.1:p.Thr1547Ser missense NM_001407645.1:c.4639A>T NP_001394574.1:p.Thr1547Ser missense NM_001407646.1:c.4636A>T NP_001394575.1:p.Thr1546Ser missense NM_001407647.1:c.4633A>T NP_001394576.1:p.Thr1545Ser missense NM_001407648.1:c.4591A>T NP_001394577.1:p.Thr1531Ser missense NM_001407649.1:c.4588A>T NP_001394578.1:p.Thr1530Ser missense NM_001407652.1:c.4648A>T NP_001394581.1:p.Thr1550Ser missense NM_001407653.1:c.4570A>T NP_001394582.1:p.Thr1524Ser missense NM_001407654.1:c.4570A>T NP_001394583.1:p.Thr1524Ser missense NM_001407655.1:c.4570A>T NP_001394584.1:p.Thr1524Ser missense NM_001407656.1:c.4567A>T NP_001394585.1:p.Thr1523Ser missense NM_001407657.1:c.4567A>T NP_001394586.1:p.Thr1523Ser missense NM_001407658.1:c.4567A>T NP_001394587.1:p.Thr1523Ser missense NM_001407659.1:c.4564A>T NP_001394588.1:p.Thr1522Ser missense NM_001407660.1:c.4564A>T NP_001394589.1:p.Thr1522Ser missense NM_001407661.1:c.4564A>T NP_001394590.1:p.Thr1522Ser missense NM_001407662.1:c.4564A>T NP_001394591.1:p.Thr1522Ser missense NM_001407663.1:c.4564A>T NP_001394592.1:p.Thr1522Ser missense NM_001407664.1:c.4525A>T NP_001394593.1:p.Thr1509Ser missense NM_001407665.1:c.4525A>T NP_001394594.1:p.Thr1509Ser missense NM_001407666.1:c.4525A>T NP_001394595.1:p.Thr1509Ser missense NM_001407667.1:c.4525A>T NP_001394596.1:p.Thr1509Ser missense NM_001407668.1:c.4525A>T NP_001394597.1:p.Thr1509Ser missense NM_001407669.1:c.4525A>T NP_001394598.1:p.Thr1509Ser missense NM_001407670.1:c.4522A>T NP_001394599.1:p.Thr1508Ser missense NM_001407671.1:c.4522A>T NP_001394600.1:p.Thr1508Ser missense NM_001407672.1:c.4522A>T NP_001394601.1:p.Thr1508Ser missense NM_001407673.1:c.4522A>T NP_001394602.1:p.Thr1508Ser missense NM_001407674.1:c.4522A>T NP_001394603.1:p.Thr1508Ser missense NM_001407675.1:c.4522A>T NP_001394604.1:p.Thr1508Ser missense NM_001407676.1:c.4522A>T NP_001394605.1:p.Thr1508Ser missense NM_001407677.1:c.4522A>T NP_001394606.1:p.Thr1508Ser missense NM_001407678.1:c.4522A>T NP_001394607.1:p.Thr1508Ser missense NM_001407679.1:c.4522A>T NP_001394608.1:p.Thr1508Ser missense NM_001407680.1:c.4522A>T NP_001394609.1:p.Thr1508Ser missense NM_001407681.1:c.4519A>T NP_001394610.1:p.Thr1507Ser missense NM_001407682.1:c.4519A>T NP_001394611.1:p.Thr1507Ser missense NM_001407683.1:c.4519A>T NP_001394612.1:p.Thr1507Ser missense NM_001407684.1:c.4648A>T NP_001394613.1:p.Thr1550Ser missense NM_001407685.1:c.4519A>T NP_001394614.1:p.Thr1507Ser missense NM_001407686.1:c.4519A>T NP_001394615.1:p.Thr1507Ser missense NM_001407687.1:c.4519A>T NP_001394616.1:p.Thr1507Ser missense NM_001407688.1:c.4519A>T NP_001394617.1:p.Thr1507Ser missense NM_001407689.1:c.4519A>T NP_001394618.1:p.Thr1507Ser missense NM_001407690.1:c.4516A>T NP_001394619.1:p.Thr1506Ser missense NM_001407691.1:c.4516A>T NP_001394620.1:p.Thr1506Ser missense NM_001407692.1:c.4507A>T NP_001394621.1:p.Thr1503Ser missense NM_001407694.1:c.4507A>T NP_001394623.1:p.Thr1503Ser missense NM_001407695.1:c.4507A>T NP_001394624.1:p.Thr1503Ser missense NM_001407696.1:c.4507A>T NP_001394625.1:p.Thr1503Ser missense NM_001407697.1:c.4507A>T NP_001394626.1:p.Thr1503Ser missense NM_001407698.1:c.4507A>T NP_001394627.1:p.Thr1503Ser missense NM_001407724.1:c.4507A>T NP_001394653.1:p.Thr1503Ser missense NM_001407725.1:c.4507A>T NP_001394654.1:p.Thr1503Ser missense NM_001407726.1:c.4507A>T NP_001394655.1:p.Thr1503Ser missense NM_001407727.1:c.4507A>T NP_001394656.1:p.Thr1503Ser missense NM_001407728.1:c.4507A>T NP_001394657.1:p.Thr1503Ser missense NM_001407729.1:c.4507A>T NP_001394658.1:p.Thr1503Ser missense NM_001407730.1:c.4507A>T NP_001394659.1:p.Thr1503Ser missense NM_001407731.1:c.4507A>T NP_001394660.1:p.Thr1503Ser missense NM_001407732.1:c.4504A>T NP_001394661.1:p.Thr1502Ser missense NM_001407733.1:c.4504A>T NP_001394662.1:p.Thr1502Ser missense NM_001407734.1:c.4504A>T NP_001394663.1:p.Thr1502Ser missense NM_001407735.1:c.4504A>T NP_001394664.1:p.Thr1502Ser missense NM_001407736.1:c.4504A>T NP_001394665.1:p.Thr1502Ser missense NM_001407737.1:c.4504A>T NP_001394666.1:p.Thr1502Ser missense NM_001407738.1:c.4504A>T NP_001394667.1:p.Thr1502Ser missense NM_001407739.1:c.4504A>T NP_001394668.1:p.Thr1502Ser missense NM_001407740.1:c.4504A>T NP_001394669.1:p.Thr1502Ser missense NM_001407741.1:c.4504A>T NP_001394670.1:p.Thr1502Ser missense NM_001407742.1:c.4504A>T NP_001394671.1:p.Thr1502Ser missense NM_001407743.1:c.4504A>T NP_001394672.1:p.Thr1502Ser missense NM_001407744.1:c.4504A>T NP_001394673.1:p.Thr1502Ser missense NM_001407745.1:c.4504A>T NP_001394674.1:p.Thr1502Ser missense NM_001407746.1:c.4504A>T NP_001394675.1:p.Thr1502Ser missense NM_001407747.1:c.4504A>T NP_001394676.1:p.Thr1502Ser missense NM_001407748.1:c.4504A>T NP_001394677.1:p.Thr1502Ser missense NM_001407749.1:c.4504A>T NP_001394678.1:p.Thr1502Ser missense NM_001407750.1:c.4504A>T NP_001394679.1:p.Thr1502Ser missense NM_001407751.1:c.4504A>T NP_001394680.1:p.Thr1502Ser missense NM_001407752.1:c.4504A>T NP_001394681.1:p.Thr1502Ser missense NM_001407838.1:c.4501A>T NP_001394767.1:p.Thr1501Ser missense NM_001407839.1:c.4501A>T NP_001394768.1:p.Thr1501Ser missense NM_001407841.1:c.4501A>T NP_001394770.1:p.Thr1501Ser missense NM_001407842.1:c.4501A>T NP_001394771.1:p.Thr1501Ser missense NM_001407843.1:c.4501A>T NP_001394772.1:p.Thr1501Ser missense NM_001407844.1:c.4501A>T NP_001394773.1:p.Thr1501Ser missense NM_001407845.1:c.4501A>T NP_001394774.1:p.Thr1501Ser missense NM_001407846.1:c.4501A>T NP_001394775.1:p.Thr1501Ser missense NM_001407847.1:c.4501A>T NP_001394776.1:p.Thr1501Ser missense NM_001407848.1:c.4501A>T NP_001394777.1:p.Thr1501Ser missense NM_001407849.1:c.4501A>T NP_001394778.1:p.Thr1501Ser missense NM_001407850.1:c.4501A>T NP_001394779.1:p.Thr1501Ser missense NM_001407851.1:c.4501A>T NP_001394780.1:p.Thr1501Ser missense NM_001407852.1:c.4501A>T NP_001394781.1:p.Thr1501Ser missense NM_001407853.1:c.4501A>T NP_001394782.1:p.Thr1501Ser missense NM_001407854.1:c.4648A>T NP_001394783.1:p.Thr1550Ser missense NM_001407858.1:c.4645A>T NP_001394787.1:p.Thr1549Ser missense NM_001407859.1:c.4645A>T NP_001394788.1:p.Thr1549Ser missense NM_001407860.1:c.4645A>T NP_001394789.1:p.Thr1549Ser missense NM_001407861.1:c.4642A>T NP_001394790.1:p.Thr1548Ser missense NM_001407862.1:c.4447A>T NP_001394791.1:p.Thr1483Ser missense NM_001407863.1:c.4522A>T NP_001394792.1:p.Thr1508Ser missense NM_001407874.1:c.4441A>T NP_001394803.1:p.Thr1481Ser missense NM_001407875.1:c.4441A>T NP_001394804.1:p.Thr1481Ser missense NM_001407879.1:c.4438A>T NP_001394808.1:p.Thr1480Ser missense NM_001407881.1:c.4438A>T NP_001394810.1:p.Thr1480Ser missense NM_001407882.1:c.4438A>T NP_001394811.1:p.Thr1480Ser missense NM_001407884.1:c.4438A>T NP_001394813.1:p.Thr1480Ser missense NM_001407885.1:c.4438A>T NP_001394814.1:p.Thr1480Ser missense NM_001407886.1:c.4438A>T NP_001394815.1:p.Thr1480Ser missense NM_001407887.1:c.4438A>T NP_001394816.1:p.Thr1480Ser missense NM_001407889.1:c.4438A>T NP_001394818.1:p.Thr1480Ser missense NM_001407894.1:c.4435A>T NP_001394823.1:p.Thr1479Ser missense NM_001407895.1:c.4435A>T NP_001394824.1:p.Thr1479Ser missense NM_001407896.1:c.4435A>T NP_001394825.1:p.Thr1479Ser missense NM_001407897.1:c.4435A>T NP_001394826.1:p.Thr1479Ser missense NM_001407898.1:c.4435A>T NP_001394827.1:p.Thr1479Ser missense NM_001407899.1:c.4435A>T NP_001394828.1:p.Thr1479Ser missense NM_001407900.1:c.4435A>T NP_001394829.1:p.Thr1479Ser missense NM_001407902.1:c.4435A>T NP_001394831.1:p.Thr1479Ser missense NM_001407904.1:c.4435A>T NP_001394833.1:p.Thr1479Ser missense NM_001407906.1:c.4435A>T NP_001394835.1:p.Thr1479Ser missense NM_001407907.1:c.4435A>T NP_001394836.1:p.Thr1479Ser missense NM_001407908.1:c.4435A>T NP_001394837.1:p.Thr1479Ser missense NM_001407909.1:c.4435A>T NP_001394838.1:p.Thr1479Ser missense NM_001407910.1:c.4435A>T NP_001394839.1:p.Thr1479Ser missense NM_001407915.1:c.4432A>T NP_001394844.1:p.Thr1478Ser missense NM_001407916.1:c.4432A>T NP_001394845.1:p.Thr1478Ser missense NM_001407917.1:c.4432A>T NP_001394846.1:p.Thr1478Ser missense NM_001407918.1:c.4432A>T NP_001394847.1:p.Thr1478Ser missense NM_001407919.1:c.4525A>T NP_001394848.1:p.Thr1509Ser missense NM_001407920.1:c.4384A>T NP_001394849.1:p.Thr1462Ser missense NM_001407921.1:c.4384A>T NP_001394850.1:p.Thr1462Ser missense NM_001407922.1:c.4384A>T NP_001394851.1:p.Thr1462Ser missense NM_001407923.1:c.4384A>T NP_001394852.1:p.Thr1462Ser missense NM_001407924.1:c.4384A>T NP_001394853.1:p.Thr1462Ser missense NM_001407925.1:c.4384A>T NP_001394854.1:p.Thr1462Ser missense NM_001407926.1:c.4384A>T NP_001394855.1:p.Thr1462Ser missense NM_001407927.1:c.4381A>T NP_001394856.1:p.Thr1461Ser missense NM_001407928.1:c.4381A>T NP_001394857.1:p.Thr1461Ser missense NM_001407929.1:c.4381A>T NP_001394858.1:p.Thr1461Ser missense NM_001407930.1:c.4381A>T NP_001394859.1:p.Thr1461Ser missense NM_001407931.1:c.4381A>T NP_001394860.1:p.Thr1461Ser missense NM_001407932.1:c.4381A>T NP_001394861.1:p.Thr1461Ser missense NM_001407933.1:c.4381A>T NP_001394862.1:p.Thr1461Ser missense NM_001407934.1:c.4378A>T NP_001394863.1:p.Thr1460Ser missense NM_001407935.1:c.4378A>T NP_001394864.1:p.Thr1460Ser missense NM_001407936.1:c.4378A>T NP_001394865.1:p.Thr1460Ser missense NM_001407937.1:c.4525A>T NP_001394866.1:p.Thr1509Ser missense NM_001407938.1:c.4525A>T NP_001394867.1:p.Thr1509Ser missense NM_001407939.1:c.4522A>T NP_001394868.1:p.Thr1508Ser missense NM_001407940.1:c.4522A>T NP_001394869.1:p.Thr1508Ser missense NM_001407941.1:c.4519A>T NP_001394870.1:p.Thr1507Ser missense NM_001407942.1:c.4507A>T NP_001394871.1:p.Thr1503Ser missense NM_001407943.1:c.4504A>T NP_001394872.1:p.Thr1502Ser missense NM_001407944.1:c.4504A>T NP_001394873.1:p.Thr1502Ser missense NM_001407945.1:c.4504A>T NP_001394874.1:p.Thr1502Ser missense NM_001407946.1:c.4315A>T NP_001394875.1:p.Thr1439Ser missense NM_001407947.1:c.4315A>T NP_001394876.1:p.Thr1439Ser missense NM_001407948.1:c.4315A>T NP_001394877.1:p.Thr1439Ser missense NM_001407949.1:c.4315A>T NP_001394878.1:p.Thr1439Ser missense NM_001407950.1:c.4312A>T NP_001394879.1:p.Thr1438Ser missense NM_001407951.1:c.4312A>T NP_001394880.1:p.Thr1438Ser missense NM_001407952.1:c.4312A>T NP_001394881.1:p.Thr1438Ser missense NM_001407953.1:c.4312A>T NP_001394882.1:p.Thr1438Ser missense NM_001407954.1:c.4312A>T NP_001394883.1:p.Thr1438Ser missense NM_001407955.1:c.4312A>T NP_001394884.1:p.Thr1438Ser missense NM_001407956.1:c.4309A>T NP_001394885.1:p.Thr1437Ser missense NM_001407957.1:c.4309A>T NP_001394886.1:p.Thr1437Ser missense NM_001407958.1:c.4309A>T NP_001394887.1:p.Thr1437Ser missense NM_001407959.1:c.4267A>T NP_001394888.1:p.Thr1423Ser missense NM_001407960.1:c.4264A>T NP_001394889.1:p.Thr1422Ser missense NM_001407962.1:c.4264A>T NP_001394891.1:p.Thr1422Ser missense NM_001407963.1:c.4261A>T NP_001394892.1:p.Thr1421Ser missense NM_001407965.1:c.4141A>T NP_001394894.1:p.Thr1381Ser missense NM_001407966.1:c.3760A>T NP_001394895.1:p.Thr1254Ser missense NM_001407967.1:c.3757A>T NP_001394896.1:p.Thr1253Ser missense NM_001407968.1:c.2044A>T NP_001394897.1:p.Thr682Ser missense NM_001407969.1:c.2041A>T NP_001394898.1:p.Thr681Ser missense NM_001407970.1:c.1405A>T NP_001394899.1:p.Thr469Ser missense NM_001407971.1:c.1405A>T NP_001394900.1:p.Thr469Ser missense NM_001407972.1:c.1402A>T NP_001394901.1:p.Thr468Ser missense NM_001407973.1:c.1339A>T NP_001394902.1:p.Thr447Ser missense NM_001407974.1:c.1339A>T NP_001394903.1:p.Thr447Ser missense NM_001407975.1:c.1339A>T NP_001394904.1:p.Thr447Ser missense NM_001407976.1:c.1339A>T NP_001394905.1:p.Thr447Ser missense NM_001407977.1:c.1339A>T NP_001394906.1:p.Thr447Ser missense NM_001407978.1:c.1339A>T NP_001394907.1:p.Thr447Ser missense NM_001407979.1:c.1336A>T NP_001394908.1:p.Thr446Ser missense NM_001407980.1:c.1336A>T NP_001394909.1:p.Thr446Ser missense NM_001407981.1:c.1336A>T NP_001394910.1:p.Thr446Ser missense NM_001407982.1:c.1336A>T NP_001394911.1:p.Thr446Ser missense NM_001407983.1:c.1336A>T NP_001394912.1:p.Thr446Ser missense NM_001407984.1:c.1336A>T NP_001394913.1:p.Thr446Ser missense NM_001407985.1:c.1336A>T NP_001394914.1:p.Thr446Ser missense NM_001407986.1:c.1336A>T NP_001394915.1:p.Thr446Ser missense NM_001407990.1:c.1336A>T NP_001394919.1:p.Thr446Ser missense NM_001407991.1:c.1336A>T NP_001394920.1:p.Thr446Ser missense NM_001407992.1:c.1336A>T NP_001394921.1:p.Thr446Ser missense NM_001407993.1:c.1336A>T NP_001394922.1:p.Thr446Ser missense NM_001408392.1:c.1333A>T NP_001395321.1:p.Thr445Ser missense NM_001408396.1:c.1333A>T NP_001395325.1:p.Thr445Ser missense NM_001408397.1:c.1333A>T NP_001395326.1:p.Thr445Ser missense NM_001408398.1:c.1333A>T NP_001395327.1:p.Thr445Ser missense NM_001408399.1:c.1333A>T NP_001395328.1:p.Thr445Ser missense NM_001408400.1:c.1333A>T NP_001395329.1:p.Thr445Ser missense NM_001408401.1:c.1333A>T NP_001395330.1:p.Thr445Ser missense NM_001408402.1:c.1333A>T NP_001395331.1:p.Thr445Ser missense NM_001408403.1:c.1333A>T NP_001395332.1:p.Thr445Ser missense NM_001408404.1:c.1333A>T NP_001395333.1:p.Thr445Ser missense NM_001408406.1:c.1330A>T NP_001395335.1:p.Thr444Ser missense NM_001408407.1:c.1330A>T NP_001395336.1:p.Thr444Ser missense NM_001408408.1:c.1330A>T NP_001395337.1:p.Thr444Ser missense NM_001408409.1:c.1327A>T NP_001395338.1:p.Thr443Ser missense NM_001408410.1:c.1264A>T NP_001395339.1:p.Thr422Ser missense NM_001408411.1:c.1261A>T NP_001395340.1:p.Thr421Ser missense NM_001408412.1:c.1258A>T NP_001395341.1:p.Thr420Ser missense NM_001408413.1:c.1258A>T NP_001395342.1:p.Thr420Ser missense NM_001408414.1:c.1258A>T NP_001395343.1:p.Thr420Ser missense NM_001408415.1:c.1258A>T NP_001395344.1:p.Thr420Ser missense NM_001408416.1:c.1258A>T NP_001395345.1:p.Thr420Ser missense NM_001408418.1:c.1222A>T NP_001395347.1:p.Thr408Ser missense NM_001408419.1:c.1222A>T NP_001395348.1:p.Thr408Ser missense NM_001408420.1:c.1222A>T NP_001395349.1:p.Thr408Ser missense NM_001408421.1:c.1219A>T NP_001395350.1:p.Thr407Ser missense NM_001408422.1:c.1219A>T NP_001395351.1:p.Thr407Ser missense NM_001408423.1:c.1219A>T NP_001395352.1:p.Thr407Ser missense NM_001408424.1:c.1219A>T NP_001395353.1:p.Thr407Ser missense NM_001408425.1:c.1216A>T NP_001395354.1:p.Thr406Ser missense NM_001408426.1:c.1216A>T NP_001395355.1:p.Thr406Ser missense NM_001408427.1:c.1216A>T NP_001395356.1:p.Thr406Ser missense NM_001408428.1:c.1216A>T NP_001395357.1:p.Thr406Ser missense NM_001408429.1:c.1216A>T NP_001395358.1:p.Thr406Ser missense NM_001408430.1:c.1216A>T NP_001395359.1:p.Thr406Ser missense NM_001408431.1:c.1216A>T NP_001395360.1:p.Thr406Ser missense NM_001408432.1:c.1213A>T NP_001395361.1:p.Thr405Ser missense NM_001408433.1:c.1213A>T NP_001395362.1:p.Thr405Ser missense NM_001408434.1:c.1213A>T NP_001395363.1:p.Thr405Ser missense NM_001408435.1:c.1213A>T NP_001395364.1:p.Thr405Ser missense NM_001408436.1:c.1213A>T NP_001395365.1:p.Thr405Ser missense NM_001408437.1:c.1213A>T NP_001395366.1:p.Thr405Ser missense NM_001408438.1:c.1213A>T NP_001395367.1:p.Thr405Ser missense NM_001408439.1:c.1213A>T NP_001395368.1:p.Thr405Ser missense NM_001408440.1:c.1213A>T NP_001395369.1:p.Thr405Ser missense NM_001408441.1:c.1213A>T NP_001395370.1:p.Thr405Ser missense NM_001408442.1:c.1213A>T NP_001395371.1:p.Thr405Ser missense NM_001408443.1:c.1213A>T NP_001395372.1:p.Thr405Ser missense NM_001408444.1:c.1213A>T NP_001395373.1:p.Thr405Ser missense NM_001408445.1:c.1210A>T NP_001395374.1:p.Thr404Ser missense NM_001408446.1:c.1210A>T NP_001395375.1:p.Thr404Ser missense NM_001408447.1:c.1210A>T NP_001395376.1:p.Thr404Ser missense NM_001408448.1:c.1210A>T NP_001395377.1:p.Thr404Ser missense NM_001408450.1:c.1210A>T NP_001395379.1:p.Thr404Ser missense NM_001408451.1:c.1204A>T NP_001395380.1:p.Thr402Ser missense NM_001408452.1:c.1198A>T NP_001395381.1:p.Thr400Ser missense NM_001408453.1:c.1198A>T NP_001395382.1:p.Thr400Ser missense NM_001408454.1:c.1198A>T NP_001395383.1:p.Thr400Ser missense NM_001408455.1:c.1198A>T NP_001395384.1:p.Thr400Ser missense NM_001408456.1:c.1198A>T NP_001395385.1:p.Thr400Ser missense NM_001408457.1:c.1198A>T NP_001395386.1:p.Thr400Ser missense NM_001408458.1:c.1195A>T NP_001395387.1:p.Thr399Ser missense NM_001408459.1:c.1195A>T NP_001395388.1:p.Thr399Ser missense NM_001408460.1:c.1195A>T NP_001395389.1:p.Thr399Ser missense NM_001408461.1:c.1195A>T NP_001395390.1:p.Thr399Ser missense NM_001408462.1:c.1195A>T NP_001395391.1:p.Thr399Ser missense NM_001408463.1:c.1195A>T NP_001395392.1:p.Thr399Ser missense NM_001408464.1:c.1195A>T NP_001395393.1:p.Thr399Ser missense NM_001408465.1:c.1195A>T NP_001395394.1:p.Thr399Ser missense NM_001408466.1:c.1195A>T NP_001395395.1:p.Thr399Ser missense NM_001408467.1:c.1195A>T NP_001395396.1:p.Thr399Ser missense NM_001408468.1:c.1192A>T NP_001395397.1:p.Thr398Ser missense NM_001408469.1:c.1192A>T NP_001395398.1:p.Thr398Ser missense NM_001408470.1:c.1192A>T NP_001395399.1:p.Thr398Ser missense NM_001408472.1:c.1336A>T NP_001395401.1:p.Thr446Ser missense NM_001408473.1:c.1333A>T NP_001395402.1:p.Thr445Ser missense NM_001408474.1:c.1138A>T NP_001395403.1:p.Thr380Ser missense NM_001408475.1:c.1135A>T NP_001395404.1:p.Thr379Ser missense NM_001408476.1:c.1135A>T NP_001395405.1:p.Thr379Ser missense NM_001408478.1:c.1129A>T NP_001395407.1:p.Thr377Ser missense NM_001408479.1:c.1129A>T NP_001395408.1:p.Thr377Ser missense NM_001408480.1:c.1129A>T NP_001395409.1:p.Thr377Ser missense NM_001408481.1:c.1126A>T NP_001395410.1:p.Thr376Ser missense NM_001408482.1:c.1126A>T NP_001395411.1:p.Thr376Ser missense NM_001408483.1:c.1126A>T NP_001395412.1:p.Thr376Ser missense NM_001408484.1:c.1126A>T NP_001395413.1:p.Thr376Ser missense NM_001408485.1:c.1126A>T NP_001395414.1:p.Thr376Ser missense NM_001408489.1:c.1126A>T NP_001395418.1:p.Thr376Ser missense NM_001408490.1:c.1126A>T NP_001395419.1:p.Thr376Ser missense NM_001408491.1:c.1126A>T NP_001395420.1:p.Thr376Ser missense NM_001408492.1:c.1123A>T NP_001395421.1:p.Thr375Ser missense NM_001408493.1:c.1123A>T NP_001395422.1:p.Thr375Ser missense NM_001408494.1:c.1099A>T NP_001395423.1:p.Thr367Ser missense NM_001408495.1:c.1093A>T NP_001395424.1:p.Thr365Ser missense NM_001408496.1:c.1075A>T NP_001395425.1:p.Thr359Ser missense NM_001408497.1:c.1075A>T NP_001395426.1:p.Thr359Ser missense NM_001408498.1:c.1075A>T NP_001395427.1:p.Thr359Ser missense NM_001408499.1:c.1075A>T NP_001395428.1:p.Thr359Ser missense NM_001408500.1:c.1075A>T NP_001395429.1:p.Thr359Ser missense NM_001408501.1:c.1075A>T NP_001395430.1:p.Thr359Ser missense NM_001408502.1:c.1072A>T NP_001395431.1:p.Thr358Ser missense NM_001408503.1:c.1072A>T NP_001395432.1:p.Thr358Ser missense NM_001408504.1:c.1072A>T NP_001395433.1:p.Thr358Ser missense NM_001408505.1:c.1069A>T NP_001395434.1:p.Thr357Ser missense NM_001408506.1:c.1012A>T NP_001395435.1:p.Thr338Ser missense NM_001408507.1:c.1009A>T NP_001395436.1:p.Thr337Ser missense NM_001408508.1:c.1000A>T NP_001395437.1:p.Thr334Ser missense NM_001408509.1:c.997A>T NP_001395438.1:p.Thr333Ser missense NM_001408510.1:c.958A>T NP_001395439.1:p.Thr320Ser missense NM_001408511.1:c.955A>T NP_001395440.1:p.Thr319Ser missense NM_001408512.1:c.835A>T NP_001395441.1:p.Thr279Ser missense NM_007297.4:c.4507A>T NP_009228.2:p.Thr1503Ser missense NM_007298.4:c.1336A>T NP_009229.2:p.Thr446Ser missense NM_007299.4:c.1336A>T NP_009230.2:p.Thr446Ser missense NM_007300.4:c.4711A>T NP_009231.2:p.Thr1571Ser missense NM_007304.2:c.1336A>T NP_009235.2:p.Thr446Ser missense NR_027676.2:n.4825A>T non-coding transcript variant NC_000017.11:g.43074358T>A NC_000017.10:g.41226375T>A NG_005905.2:g.143626A>T LRG_292:g.143626A>T LRG_292t1:c.4648A>T LRG_292p1:p.Thr1550Ser - Protein change
- T1381S, T1438S, T1461S, T1462S, T1481S, T1501S, T1507S, T1522S, T1548S, T1549S, T319S, T375S, T400S, T404S, T406S, T408S, T421S, T446S, T681S, T1421S, T1423S, T1437S, T1478S, T1479S, T1508S, T1523S, T1531S, T1545S, T1550S, T1571S, T320S, T333S, T357S, T358S, T379S, T398S, T399S, T422S, T447S, T1253S, T1254S, T1422S, T1439S, T1506S, T1509S, T1530S, T1547S, T1572S, T337S, T338S, T365S, T377S, T402S, T405S, T443S, T445S, T469S, T1460S, T1480S, T1483S, T1502S, T1503S, T1524S, T1546S, T1570S, T279S, T334S, T359S, T367S, T376S, T380S, T407S, T420S, T444S, T468S, T682S
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074357: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 |
13040 | 14846 | |
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
|
Dec 17, 2021 | RCV002917988.3 |
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
(Dec 17, 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: SCV003251202.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. In summary, the available evidence is currently insufficient to determine … (more)
This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. 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 is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1550 of the BRCA1 protein (p.Thr1550Ser). (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:
This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. 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 is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1550 of the BRCA1 protein (p.Thr1550Ser).
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 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.