Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4621G>T (p.Glu1541Ter)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Sep 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4621G>T (p.Glu1541Ter)
Variation ID: 55241 Accession: VCV000055241.4
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074385 (GRCh38) [ NCBI UCSC ] 17: 41226402 (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 Apr 1, 2014 Sep 24, 2016 Sep 8, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4621G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1541Ter nonsense NM_001407571.1:c.4408G>T NP_001394500.1:p.Glu1470Ter nonsense NM_001407581.1:c.4687G>T NP_001394510.1:p.Glu1563Ter nonsense NM_001407582.1:c.4687G>T NP_001394511.1:p.Glu1563Ter nonsense NM_001407583.1:c.4684G>T NP_001394512.1:p.Glu1562Ter nonsense NM_001407585.1:c.4684G>T NP_001394514.1:p.Glu1562Ter nonsense NM_001407587.1:c.4684G>T NP_001394516.1:p.Glu1562Ter nonsense NM_001407590.1:c.4681G>T NP_001394519.1:p.Glu1561Ter nonsense NM_001407591.1:c.4681G>T NP_001394520.1:p.Glu1561Ter nonsense NM_001407593.1:c.4621G>T NP_001394522.1:p.Glu1541Ter nonsense NM_001407594.1:c.4621G>T NP_001394523.1:p.Glu1541Ter nonsense NM_001407596.1:c.4621G>T NP_001394525.1:p.Glu1541Ter nonsense NM_001407597.1:c.4621G>T NP_001394526.1:p.Glu1541Ter nonsense NM_001407598.1:c.4621G>T NP_001394527.1:p.Glu1541Ter nonsense NM_001407602.1:c.4621G>T NP_001394531.1:p.Glu1541Ter nonsense NM_001407603.1:c.4621G>T NP_001394532.1:p.Glu1541Ter nonsense NM_001407605.1:c.4621G>T NP_001394534.1:p.Glu1541Ter nonsense NM_001407610.1:c.4618G>T NP_001394539.1:p.Glu1540Ter nonsense NM_001407611.1:c.4618G>T NP_001394540.1:p.Glu1540Ter nonsense NM_001407612.1:c.4618G>T NP_001394541.1:p.Glu1540Ter nonsense NM_001407613.1:c.4618G>T NP_001394542.1:p.Glu1540Ter nonsense NM_001407614.1:c.4618G>T NP_001394543.1:p.Glu1540Ter nonsense NM_001407615.1:c.4618G>T NP_001394544.1:p.Glu1540Ter nonsense NM_001407616.1:c.4618G>T NP_001394545.1:p.Glu1540Ter nonsense NM_001407617.1:c.4618G>T NP_001394546.1:p.Glu1540Ter nonsense NM_001407618.1:c.4618G>T NP_001394547.1:p.Glu1540Ter nonsense NM_001407619.1:c.4618G>T NP_001394548.1:p.Glu1540Ter nonsense NM_001407620.1:c.4618G>T NP_001394549.1:p.Glu1540Ter nonsense NM_001407621.1:c.4618G>T NP_001394550.1:p.Glu1540Ter nonsense NM_001407622.1:c.4618G>T NP_001394551.1:p.Glu1540Ter nonsense NM_001407623.1:c.4618G>T NP_001394552.1:p.Glu1540Ter nonsense NM_001407624.1:c.4618G>T NP_001394553.1:p.Glu1540Ter nonsense NM_001407625.1:c.4618G>T NP_001394554.1:p.Glu1540Ter nonsense NM_001407626.1:c.4618G>T NP_001394555.1:p.Glu1540Ter nonsense NM_001407627.1:c.4615G>T NP_001394556.1:p.Glu1539Ter nonsense NM_001407628.1:c.4615G>T NP_001394557.1:p.Glu1539Ter nonsense NM_001407629.1:c.4615G>T NP_001394558.1:p.Glu1539Ter nonsense NM_001407630.1:c.4615G>T NP_001394559.1:p.Glu1539Ter nonsense NM_001407631.1:c.4615G>T NP_001394560.1:p.Glu1539Ter nonsense NM_001407632.1:c.4615G>T NP_001394561.1:p.Glu1539Ter nonsense NM_001407633.1:c.4615G>T NP_001394562.1:p.Glu1539Ter nonsense NM_001407634.1:c.4615G>T NP_001394563.1:p.Glu1539Ter nonsense NM_001407635.1:c.4615G>T NP_001394564.1:p.Glu1539Ter nonsense NM_001407636.1:c.4615G>T NP_001394565.1:p.Glu1539Ter nonsense NM_001407637.1:c.4615G>T NP_001394566.1:p.Glu1539Ter nonsense NM_001407638.1:c.4615G>T NP_001394567.1:p.Glu1539Ter nonsense NM_001407639.1:c.4615G>T NP_001394568.1:p.Glu1539Ter nonsense NM_001407640.1:c.4615G>T NP_001394569.1:p.Glu1539Ter nonsense NM_001407641.1:c.4615G>T NP_001394570.1:p.Glu1539Ter nonsense NM_001407642.1:c.4615G>T NP_001394571.1:p.Glu1539Ter nonsense NM_001407644.1:c.4612G>T NP_001394573.1:p.Glu1538Ter nonsense NM_001407645.1:c.4612G>T NP_001394574.1:p.Glu1538Ter nonsense NM_001407646.1:c.4609G>T NP_001394575.1:p.Glu1537Ter nonsense NM_001407647.1:c.4606G>T NP_001394576.1:p.Glu1536Ter nonsense NM_001407648.1:c.4564G>T NP_001394577.1:p.Glu1522Ter nonsense NM_001407649.1:c.4561G>T NP_001394578.1:p.Glu1521Ter nonsense NM_001407652.1:c.4621G>T NP_001394581.1:p.Glu1541Ter nonsense NM_001407653.1:c.4543G>T NP_001394582.1:p.Glu1515Ter nonsense NM_001407654.1:c.4543G>T NP_001394583.1:p.Glu1515Ter nonsense NM_001407655.1:c.4543G>T NP_001394584.1:p.Glu1515Ter nonsense NM_001407656.1:c.4540G>T NP_001394585.1:p.Glu1514Ter nonsense NM_001407657.1:c.4540G>T NP_001394586.1:p.Glu1514Ter nonsense NM_001407658.1:c.4540G>T NP_001394587.1:p.Glu1514Ter nonsense NM_001407659.1:c.4537G>T NP_001394588.1:p.Glu1513Ter nonsense NM_001407660.1:c.4537G>T NP_001394589.1:p.Glu1513Ter nonsense NM_001407661.1:c.4537G>T NP_001394590.1:p.Glu1513Ter nonsense NM_001407662.1:c.4537G>T NP_001394591.1:p.Glu1513Ter nonsense NM_001407663.1:c.4537G>T NP_001394592.1:p.Glu1513Ter nonsense NM_001407664.1:c.4498G>T NP_001394593.1:p.Glu1500Ter nonsense NM_001407665.1:c.4498G>T NP_001394594.1:p.Glu1500Ter nonsense NM_001407666.1:c.4498G>T NP_001394595.1:p.Glu1500Ter nonsense NM_001407667.1:c.4498G>T NP_001394596.1:p.Glu1500Ter nonsense NM_001407668.1:c.4498G>T NP_001394597.1:p.Glu1500Ter nonsense NM_001407669.1:c.4498G>T NP_001394598.1:p.Glu1500Ter nonsense NM_001407670.1:c.4495G>T NP_001394599.1:p.Glu1499Ter nonsense NM_001407671.1:c.4495G>T NP_001394600.1:p.Glu1499Ter nonsense NM_001407672.1:c.4495G>T NP_001394601.1:p.Glu1499Ter nonsense NM_001407673.1:c.4495G>T NP_001394602.1:p.Glu1499Ter nonsense NM_001407674.1:c.4495G>T NP_001394603.1:p.Glu1499Ter nonsense NM_001407675.1:c.4495G>T NP_001394604.1:p.Glu1499Ter nonsense NM_001407676.1:c.4495G>T NP_001394605.1:p.Glu1499Ter nonsense NM_001407677.1:c.4495G>T NP_001394606.1:p.Glu1499Ter nonsense NM_001407678.1:c.4495G>T NP_001394607.1:p.Glu1499Ter nonsense NM_001407679.1:c.4495G>T NP_001394608.1:p.Glu1499Ter nonsense NM_001407680.1:c.4495G>T NP_001394609.1:p.Glu1499Ter nonsense NM_001407681.1:c.4492G>T NP_001394610.1:p.Glu1498Ter nonsense NM_001407682.1:c.4492G>T NP_001394611.1:p.Glu1498Ter nonsense NM_001407683.1:c.4492G>T NP_001394612.1:p.Glu1498Ter nonsense NM_001407684.1:c.4621G>T NP_001394613.1:p.Glu1541Ter nonsense NM_001407685.1:c.4492G>T NP_001394614.1:p.Glu1498Ter nonsense NM_001407686.1:c.4492G>T NP_001394615.1:p.Glu1498Ter nonsense NM_001407687.1:c.4492G>T NP_001394616.1:p.Glu1498Ter nonsense NM_001407688.1:c.4492G>T NP_001394617.1:p.Glu1498Ter nonsense NM_001407689.1:c.4492G>T NP_001394618.1:p.Glu1498Ter nonsense NM_001407690.1:c.4489G>T NP_001394619.1:p.Glu1497Ter nonsense NM_001407691.1:c.4489G>T NP_001394620.1:p.Glu1497Ter nonsense NM_001407692.1:c.4480G>T NP_001394621.1:p.Glu1494Ter nonsense NM_001407694.1:c.4480G>T NP_001394623.1:p.Glu1494Ter nonsense NM_001407695.1:c.4480G>T NP_001394624.1:p.Glu1494Ter nonsense NM_001407696.1:c.4480G>T NP_001394625.1:p.Glu1494Ter nonsense NM_001407697.1:c.4480G>T NP_001394626.1:p.Glu1494Ter nonsense NM_001407698.1:c.4480G>T NP_001394627.1:p.Glu1494Ter nonsense NM_001407724.1:c.4480G>T NP_001394653.1:p.Glu1494Ter nonsense NM_001407725.1:c.4480G>T NP_001394654.1:p.Glu1494Ter nonsense NM_001407726.1:c.4480G>T NP_001394655.1:p.Glu1494Ter nonsense NM_001407727.1:c.4480G>T NP_001394656.1:p.Glu1494Ter nonsense NM_001407728.1:c.4480G>T NP_001394657.1:p.Glu1494Ter nonsense NM_001407729.1:c.4480G>T NP_001394658.1:p.Glu1494Ter nonsense NM_001407730.1:c.4480G>T NP_001394659.1:p.Glu1494Ter nonsense NM_001407731.1:c.4480G>T NP_001394660.1:p.Glu1494Ter nonsense NM_001407732.1:c.4477G>T NP_001394661.1:p.Glu1493Ter nonsense NM_001407733.1:c.4477G>T NP_001394662.1:p.Glu1493Ter nonsense NM_001407734.1:c.4477G>T NP_001394663.1:p.Glu1493Ter nonsense NM_001407735.1:c.4477G>T NP_001394664.1:p.Glu1493Ter nonsense NM_001407736.1:c.4477G>T NP_001394665.1:p.Glu1493Ter nonsense NM_001407737.1:c.4477G>T NP_001394666.1:p.Glu1493Ter nonsense NM_001407738.1:c.4477G>T NP_001394667.1:p.Glu1493Ter nonsense NM_001407739.1:c.4477G>T NP_001394668.1:p.Glu1493Ter nonsense NM_001407740.1:c.4477G>T NP_001394669.1:p.Glu1493Ter nonsense NM_001407741.1:c.4477G>T NP_001394670.1:p.Glu1493Ter nonsense NM_001407742.1:c.4477G>T NP_001394671.1:p.Glu1493Ter nonsense NM_001407743.1:c.4477G>T NP_001394672.1:p.Glu1493Ter nonsense NM_001407744.1:c.4477G>T NP_001394673.1:p.Glu1493Ter nonsense NM_001407745.1:c.4477G>T NP_001394674.1:p.Glu1493Ter nonsense NM_001407746.1:c.4477G>T NP_001394675.1:p.Glu1493Ter nonsense NM_001407747.1:c.4477G>T NP_001394676.1:p.Glu1493Ter nonsense NM_001407748.1:c.4477G>T NP_001394677.1:p.Glu1493Ter nonsense NM_001407749.1:c.4477G>T NP_001394678.1:p.Glu1493Ter nonsense NM_001407750.1:c.4477G>T NP_001394679.1:p.Glu1493Ter nonsense NM_001407751.1:c.4477G>T NP_001394680.1:p.Glu1493Ter nonsense NM_001407752.1:c.4477G>T NP_001394681.1:p.Glu1493Ter nonsense NM_001407838.1:c.4474G>T NP_001394767.1:p.Glu1492Ter nonsense NM_001407839.1:c.4474G>T NP_001394768.1:p.Glu1492Ter nonsense NM_001407841.1:c.4474G>T NP_001394770.1:p.Glu1492Ter nonsense NM_001407842.1:c.4474G>T NP_001394771.1:p.Glu1492Ter nonsense NM_001407843.1:c.4474G>T NP_001394772.1:p.Glu1492Ter nonsense NM_001407844.1:c.4474G>T NP_001394773.1:p.Glu1492Ter nonsense NM_001407845.1:c.4474G>T NP_001394774.1:p.Glu1492Ter nonsense NM_001407846.1:c.4474G>T NP_001394775.1:p.Glu1492Ter nonsense NM_001407847.1:c.4474G>T NP_001394776.1:p.Glu1492Ter nonsense NM_001407848.1:c.4474G>T NP_001394777.1:p.Glu1492Ter nonsense NM_001407849.1:c.4474G>T NP_001394778.1:p.Glu1492Ter nonsense NM_001407850.1:c.4474G>T NP_001394779.1:p.Glu1492Ter nonsense NM_001407851.1:c.4474G>T NP_001394780.1:p.Glu1492Ter nonsense NM_001407852.1:c.4474G>T NP_001394781.1:p.Glu1492Ter nonsense NM_001407853.1:c.4474G>T NP_001394782.1:p.Glu1492Ter nonsense NM_001407854.1:c.4621G>T NP_001394783.1:p.Glu1541Ter nonsense NM_001407858.1:c.4618G>T NP_001394787.1:p.Glu1540Ter nonsense NM_001407859.1:c.4618G>T NP_001394788.1:p.Glu1540Ter nonsense NM_001407860.1:c.4618G>T NP_001394789.1:p.Glu1540Ter nonsense NM_001407861.1:c.4615G>T NP_001394790.1:p.Glu1539Ter nonsense NM_001407862.1:c.4420G>T NP_001394791.1:p.Glu1474Ter nonsense NM_001407863.1:c.4495G>T NP_001394792.1:p.Glu1499Ter nonsense NM_001407874.1:c.4414G>T NP_001394803.1:p.Glu1472Ter nonsense NM_001407875.1:c.4414G>T NP_001394804.1:p.Glu1472Ter nonsense NM_001407879.1:c.4411G>T NP_001394808.1:p.Glu1471Ter nonsense NM_001407881.1:c.4411G>T NP_001394810.1:p.Glu1471Ter nonsense NM_001407882.1:c.4411G>T NP_001394811.1:p.Glu1471Ter nonsense NM_001407884.1:c.4411G>T NP_001394813.1:p.Glu1471Ter nonsense NM_001407885.1:c.4411G>T NP_001394814.1:p.Glu1471Ter nonsense NM_001407886.1:c.4411G>T NP_001394815.1:p.Glu1471Ter nonsense NM_001407887.1:c.4411G>T NP_001394816.1:p.Glu1471Ter nonsense NM_001407889.1:c.4411G>T NP_001394818.1:p.Glu1471Ter nonsense NM_001407894.1:c.4408G>T NP_001394823.1:p.Glu1470Ter nonsense NM_001407895.1:c.4408G>T NP_001394824.1:p.Glu1470Ter nonsense NM_001407896.1:c.4408G>T NP_001394825.1:p.Glu1470Ter nonsense NM_001407897.1:c.4408G>T NP_001394826.1:p.Glu1470Ter nonsense NM_001407898.1:c.4408G>T NP_001394827.1:p.Glu1470Ter nonsense NM_001407899.1:c.4408G>T NP_001394828.1:p.Glu1470Ter nonsense NM_001407900.1:c.4408G>T NP_001394829.1:p.Glu1470Ter nonsense NM_001407902.1:c.4408G>T NP_001394831.1:p.Glu1470Ter nonsense NM_001407904.1:c.4408G>T NP_001394833.1:p.Glu1470Ter nonsense NM_001407906.1:c.4408G>T NP_001394835.1:p.Glu1470Ter nonsense NM_001407907.1:c.4408G>T NP_001394836.1:p.Glu1470Ter nonsense NM_001407908.1:c.4408G>T NP_001394837.1:p.Glu1470Ter nonsense NM_001407909.1:c.4408G>T NP_001394838.1:p.Glu1470Ter nonsense NM_001407910.1:c.4408G>T NP_001394839.1:p.Glu1470Ter nonsense NM_001407915.1:c.4405G>T NP_001394844.1:p.Glu1469Ter nonsense NM_001407916.1:c.4405G>T NP_001394845.1:p.Glu1469Ter nonsense NM_001407917.1:c.4405G>T NP_001394846.1:p.Glu1469Ter nonsense NM_001407918.1:c.4405G>T NP_001394847.1:p.Glu1469Ter nonsense NM_001407919.1:c.4498G>T NP_001394848.1:p.Glu1500Ter nonsense NM_001407920.1:c.4357G>T NP_001394849.1:p.Glu1453Ter nonsense NM_001407921.1:c.4357G>T NP_001394850.1:p.Glu1453Ter nonsense NM_001407922.1:c.4357G>T NP_001394851.1:p.Glu1453Ter nonsense NM_001407923.1:c.4357G>T NP_001394852.1:p.Glu1453Ter nonsense NM_001407924.1:c.4357G>T NP_001394853.1:p.Glu1453Ter nonsense NM_001407925.1:c.4357G>T NP_001394854.1:p.Glu1453Ter nonsense NM_001407926.1:c.4357G>T NP_001394855.1:p.Glu1453Ter nonsense NM_001407927.1:c.4354G>T NP_001394856.1:p.Glu1452Ter nonsense NM_001407928.1:c.4354G>T NP_001394857.1:p.Glu1452Ter nonsense NM_001407929.1:c.4354G>T NP_001394858.1:p.Glu1452Ter nonsense NM_001407930.1:c.4354G>T NP_001394859.1:p.Glu1452Ter nonsense NM_001407931.1:c.4354G>T NP_001394860.1:p.Glu1452Ter nonsense NM_001407932.1:c.4354G>T NP_001394861.1:p.Glu1452Ter nonsense NM_001407933.1:c.4354G>T NP_001394862.1:p.Glu1452Ter nonsense NM_001407934.1:c.4351G>T NP_001394863.1:p.Glu1451Ter nonsense NM_001407935.1:c.4351G>T NP_001394864.1:p.Glu1451Ter nonsense NM_001407936.1:c.4351G>T NP_001394865.1:p.Glu1451Ter nonsense NM_001407937.1:c.4498G>T NP_001394866.1:p.Glu1500Ter nonsense NM_001407938.1:c.4498G>T NP_001394867.1:p.Glu1500Ter nonsense NM_001407939.1:c.4495G>T NP_001394868.1:p.Glu1499Ter nonsense NM_001407940.1:c.4495G>T NP_001394869.1:p.Glu1499Ter nonsense NM_001407941.1:c.4492G>T NP_001394870.1:p.Glu1498Ter nonsense NM_001407942.1:c.4480G>T NP_001394871.1:p.Glu1494Ter nonsense NM_001407943.1:c.4477G>T NP_001394872.1:p.Glu1493Ter nonsense NM_001407944.1:c.4477G>T NP_001394873.1:p.Glu1493Ter nonsense NM_001407945.1:c.4477G>T NP_001394874.1:p.Glu1493Ter nonsense NM_001407946.1:c.4288G>T NP_001394875.1:p.Glu1430Ter nonsense NM_001407947.1:c.4288G>T NP_001394876.1:p.Glu1430Ter nonsense NM_001407948.1:c.4288G>T NP_001394877.1:p.Glu1430Ter nonsense NM_001407949.1:c.4288G>T NP_001394878.1:p.Glu1430Ter nonsense NM_001407950.1:c.4285G>T NP_001394879.1:p.Glu1429Ter nonsense NM_001407951.1:c.4285G>T NP_001394880.1:p.Glu1429Ter nonsense NM_001407952.1:c.4285G>T NP_001394881.1:p.Glu1429Ter nonsense NM_001407953.1:c.4285G>T NP_001394882.1:p.Glu1429Ter nonsense NM_001407954.1:c.4285G>T NP_001394883.1:p.Glu1429Ter nonsense NM_001407955.1:c.4285G>T NP_001394884.1:p.Glu1429Ter nonsense NM_001407956.1:c.4282G>T NP_001394885.1:p.Glu1428Ter nonsense NM_001407957.1:c.4282G>T NP_001394886.1:p.Glu1428Ter nonsense NM_001407958.1:c.4282G>T NP_001394887.1:p.Glu1428Ter nonsense NM_001407959.1:c.4240G>T NP_001394888.1:p.Glu1414Ter nonsense NM_001407960.1:c.4237G>T NP_001394889.1:p.Glu1413Ter nonsense NM_001407962.1:c.4237G>T NP_001394891.1:p.Glu1413Ter nonsense NM_001407963.1:c.4234G>T NP_001394892.1:p.Glu1412Ter nonsense NM_001407965.1:c.4114G>T NP_001394894.1:p.Glu1372Ter nonsense NM_001407966.1:c.3733G>T NP_001394895.1:p.Glu1245Ter nonsense NM_001407967.1:c.3730G>T NP_001394896.1:p.Glu1244Ter nonsense NM_001407968.1:c.2017G>T NP_001394897.1:p.Glu673Ter nonsense NM_001407969.1:c.2014G>T NP_001394898.1:p.Glu672Ter nonsense NM_001407970.1:c.1378G>T NP_001394899.1:p.Glu460Ter nonsense NM_001407971.1:c.1378G>T NP_001394900.1:p.Glu460Ter nonsense NM_001407972.1:c.1375G>T NP_001394901.1:p.Glu459Ter nonsense NM_001407973.1:c.1312G>T NP_001394902.1:p.Glu438Ter nonsense NM_001407974.1:c.1312G>T NP_001394903.1:p.Glu438Ter nonsense NM_001407975.1:c.1312G>T NP_001394904.1:p.Glu438Ter nonsense NM_001407976.1:c.1312G>T NP_001394905.1:p.Glu438Ter nonsense NM_001407977.1:c.1312G>T NP_001394906.1:p.Glu438Ter nonsense NM_001407978.1:c.1312G>T NP_001394907.1:p.Glu438Ter nonsense NM_001407979.1:c.1309G>T NP_001394908.1:p.Glu437Ter nonsense NM_001407980.1:c.1309G>T NP_001394909.1:p.Glu437Ter nonsense NM_001407981.1:c.1309G>T NP_001394910.1:p.Glu437Ter nonsense NM_001407982.1:c.1309G>T NP_001394911.1:p.Glu437Ter nonsense NM_001407983.1:c.1309G>T NP_001394912.1:p.Glu437Ter nonsense NM_001407984.1:c.1309G>T NP_001394913.1:p.Glu437Ter nonsense NM_001407985.1:c.1309G>T NP_001394914.1:p.Glu437Ter nonsense NM_001407986.1:c.1309G>T NP_001394915.1:p.Glu437Ter nonsense NM_001407990.1:c.1309G>T NP_001394919.1:p.Glu437Ter nonsense NM_001407991.1:c.1309G>T NP_001394920.1:p.Glu437Ter nonsense NM_001407992.1:c.1309G>T NP_001394921.1:p.Glu437Ter nonsense NM_001407993.1:c.1309G>T NP_001394922.1:p.Glu437Ter nonsense NM_001408392.1:c.1306G>T NP_001395321.1:p.Glu436Ter nonsense NM_001408396.1:c.1306G>T NP_001395325.1:p.Glu436Ter nonsense NM_001408397.1:c.1306G>T NP_001395326.1:p.Glu436Ter nonsense NM_001408398.1:c.1306G>T NP_001395327.1:p.Glu436Ter nonsense NM_001408399.1:c.1306G>T NP_001395328.1:p.Glu436Ter nonsense NM_001408400.1:c.1306G>T NP_001395329.1:p.Glu436Ter nonsense NM_001408401.1:c.1306G>T NP_001395330.1:p.Glu436Ter nonsense NM_001408402.1:c.1306G>T NP_001395331.1:p.Glu436Ter nonsense NM_001408403.1:c.1306G>T NP_001395332.1:p.Glu436Ter nonsense NM_001408404.1:c.1306G>T NP_001395333.1:p.Glu436Ter nonsense NM_001408406.1:c.1303G>T NP_001395335.1:p.Glu435Ter nonsense NM_001408407.1:c.1303G>T NP_001395336.1:p.Glu435Ter nonsense NM_001408408.1:c.1303G>T NP_001395337.1:p.Glu435Ter nonsense NM_001408409.1:c.1300G>T NP_001395338.1:p.Glu434Ter nonsense NM_001408410.1:c.1237G>T NP_001395339.1:p.Glu413Ter nonsense NM_001408411.1:c.1234G>T NP_001395340.1:p.Glu412Ter nonsense NM_001408412.1:c.1231G>T NP_001395341.1:p.Glu411Ter nonsense NM_001408413.1:c.1231G>T NP_001395342.1:p.Glu411Ter nonsense NM_001408414.1:c.1231G>T NP_001395343.1:p.Glu411Ter nonsense NM_001408415.1:c.1231G>T NP_001395344.1:p.Glu411Ter nonsense NM_001408416.1:c.1231G>T NP_001395345.1:p.Glu411Ter nonsense NM_001408418.1:c.1195G>T NP_001395347.1:p.Glu399Ter nonsense NM_001408419.1:c.1195G>T NP_001395348.1:p.Glu399Ter nonsense NM_001408420.1:c.1195G>T NP_001395349.1:p.Glu399Ter nonsense NM_001408421.1:c.1192G>T NP_001395350.1:p.Glu398Ter nonsense NM_001408422.1:c.1192G>T NP_001395351.1:p.Glu398Ter nonsense NM_001408423.1:c.1192G>T NP_001395352.1:p.Glu398Ter nonsense NM_001408424.1:c.1192G>T NP_001395353.1:p.Glu398Ter nonsense NM_001408425.1:c.1189G>T NP_001395354.1:p.Glu397Ter nonsense NM_001408426.1:c.1189G>T NP_001395355.1:p.Glu397Ter nonsense NM_001408427.1:c.1189G>T NP_001395356.1:p.Glu397Ter nonsense NM_001408428.1:c.1189G>T NP_001395357.1:p.Glu397Ter nonsense NM_001408429.1:c.1189G>T NP_001395358.1:p.Glu397Ter nonsense NM_001408430.1:c.1189G>T NP_001395359.1:p.Glu397Ter nonsense NM_001408431.1:c.1189G>T NP_001395360.1:p.Glu397Ter nonsense NM_001408432.1:c.1186G>T NP_001395361.1:p.Glu396Ter nonsense NM_001408433.1:c.1186G>T NP_001395362.1:p.Glu396Ter nonsense NM_001408434.1:c.1186G>T NP_001395363.1:p.Glu396Ter nonsense NM_001408435.1:c.1186G>T NP_001395364.1:p.Glu396Ter nonsense NM_001408436.1:c.1186G>T NP_001395365.1:p.Glu396Ter nonsense NM_001408437.1:c.1186G>T NP_001395366.1:p.Glu396Ter nonsense NM_001408438.1:c.1186G>T NP_001395367.1:p.Glu396Ter nonsense NM_001408439.1:c.1186G>T NP_001395368.1:p.Glu396Ter nonsense NM_001408440.1:c.1186G>T NP_001395369.1:p.Glu396Ter nonsense NM_001408441.1:c.1186G>T NP_001395370.1:p.Glu396Ter nonsense NM_001408442.1:c.1186G>T NP_001395371.1:p.Glu396Ter nonsense NM_001408443.1:c.1186G>T NP_001395372.1:p.Glu396Ter nonsense NM_001408444.1:c.1186G>T NP_001395373.1:p.Glu396Ter nonsense NM_001408445.1:c.1183G>T NP_001395374.1:p.Glu395Ter nonsense NM_001408446.1:c.1183G>T NP_001395375.1:p.Glu395Ter nonsense NM_001408447.1:c.1183G>T NP_001395376.1:p.Glu395Ter nonsense NM_001408448.1:c.1183G>T NP_001395377.1:p.Glu395Ter nonsense NM_001408450.1:c.1183G>T NP_001395379.1:p.Glu395Ter nonsense NM_001408451.1:c.1177G>T NP_001395380.1:p.Glu393Ter nonsense NM_001408452.1:c.1171G>T NP_001395381.1:p.Glu391Ter nonsense NM_001408453.1:c.1171G>T NP_001395382.1:p.Glu391Ter nonsense NM_001408454.1:c.1171G>T NP_001395383.1:p.Glu391Ter nonsense NM_001408455.1:c.1171G>T NP_001395384.1:p.Glu391Ter nonsense NM_001408456.1:c.1171G>T NP_001395385.1:p.Glu391Ter nonsense NM_001408457.1:c.1171G>T NP_001395386.1:p.Glu391Ter nonsense NM_001408458.1:c.1168G>T NP_001395387.1:p.Glu390Ter nonsense NM_001408459.1:c.1168G>T NP_001395388.1:p.Glu390Ter nonsense NM_001408460.1:c.1168G>T NP_001395389.1:p.Glu390Ter nonsense NM_001408461.1:c.1168G>T NP_001395390.1:p.Glu390Ter nonsense NM_001408462.1:c.1168G>T NP_001395391.1:p.Glu390Ter nonsense NM_001408463.1:c.1168G>T NP_001395392.1:p.Glu390Ter nonsense NM_001408464.1:c.1168G>T NP_001395393.1:p.Glu390Ter nonsense NM_001408465.1:c.1168G>T NP_001395394.1:p.Glu390Ter nonsense NM_001408466.1:c.1168G>T NP_001395395.1:p.Glu390Ter nonsense NM_001408467.1:c.1168G>T NP_001395396.1:p.Glu390Ter nonsense NM_001408468.1:c.1165G>T NP_001395397.1:p.Glu389Ter nonsense NM_001408469.1:c.1165G>T NP_001395398.1:p.Glu389Ter nonsense NM_001408470.1:c.1165G>T NP_001395399.1:p.Glu389Ter nonsense NM_001408472.1:c.1309G>T NP_001395401.1:p.Glu437Ter nonsense NM_001408473.1:c.1306G>T NP_001395402.1:p.Glu436Ter nonsense NM_001408474.1:c.1111G>T NP_001395403.1:p.Glu371Ter nonsense NM_001408475.1:c.1108G>T NP_001395404.1:p.Glu370Ter nonsense NM_001408476.1:c.1108G>T NP_001395405.1:p.Glu370Ter nonsense NM_001408478.1:c.1102G>T NP_001395407.1:p.Glu368Ter nonsense NM_001408479.1:c.1102G>T NP_001395408.1:p.Glu368Ter nonsense NM_001408480.1:c.1102G>T NP_001395409.1:p.Glu368Ter nonsense NM_001408481.1:c.1099G>T NP_001395410.1:p.Glu367Ter nonsense NM_001408482.1:c.1099G>T NP_001395411.1:p.Glu367Ter nonsense NM_001408483.1:c.1099G>T NP_001395412.1:p.Glu367Ter nonsense NM_001408484.1:c.1099G>T NP_001395413.1:p.Glu367Ter nonsense NM_001408485.1:c.1099G>T NP_001395414.1:p.Glu367Ter nonsense NM_001408489.1:c.1099G>T NP_001395418.1:p.Glu367Ter nonsense NM_001408490.1:c.1099G>T NP_001395419.1:p.Glu367Ter nonsense NM_001408491.1:c.1099G>T NP_001395420.1:p.Glu367Ter nonsense NM_001408492.1:c.1096G>T NP_001395421.1:p.Glu366Ter nonsense NM_001408493.1:c.1096G>T NP_001395422.1:p.Glu366Ter nonsense NM_001408494.1:c.1072G>T NP_001395423.1:p.Glu358Ter nonsense NM_001408495.1:c.1066G>T NP_001395424.1:p.Glu356Ter nonsense NM_001408496.1:c.1048G>T NP_001395425.1:p.Glu350Ter nonsense NM_001408497.1:c.1048G>T NP_001395426.1:p.Glu350Ter nonsense NM_001408498.1:c.1048G>T NP_001395427.1:p.Glu350Ter nonsense NM_001408499.1:c.1048G>T NP_001395428.1:p.Glu350Ter nonsense NM_001408500.1:c.1048G>T NP_001395429.1:p.Glu350Ter nonsense NM_001408501.1:c.1048G>T NP_001395430.1:p.Glu350Ter nonsense NM_001408502.1:c.1045G>T NP_001395431.1:p.Glu349Ter nonsense NM_001408503.1:c.1045G>T NP_001395432.1:p.Glu349Ter nonsense NM_001408504.1:c.1045G>T NP_001395433.1:p.Glu349Ter nonsense NM_001408505.1:c.1042G>T NP_001395434.1:p.Glu348Ter nonsense NM_001408506.1:c.985G>T NP_001395435.1:p.Glu329Ter nonsense NM_001408507.1:c.982G>T NP_001395436.1:p.Glu328Ter nonsense NM_001408508.1:c.973G>T NP_001395437.1:p.Glu325Ter nonsense NM_001408509.1:c.970G>T NP_001395438.1:p.Glu324Ter nonsense NM_001408510.1:c.931G>T NP_001395439.1:p.Glu311Ter nonsense NM_001408511.1:c.928G>T NP_001395440.1:p.Glu310Ter nonsense NM_001408512.1:c.808G>T NP_001395441.1:p.Glu270Ter nonsense NM_007297.4:c.4480G>T NP_009228.2:p.Glu1494Ter nonsense NM_007298.4:c.1309G>T NP_009229.2:p.Glu437Ter nonsense NM_007299.4:c.1309G>T NP_009230.2:p.Glu437Ter nonsense NM_007300.4:c.4684G>T NP_009231.2:p.Glu1562Ter nonsense NM_007304.2:c.1309G>T NP_009235.2:p.Glu437Ter nonsense NR_027676.2:n.4798G>T non-coding transcript variant NC_000017.11:g.43074385C>A NC_000017.10:g.41226402C>A NG_005905.2:g.143599G>T LRG_292:g.143599G>T LRG_292t1:c.4621G>T LRG_292p1:p.Glu1541Ter U14680.1:n.4740G>T - Protein change
- E1541*, E1562*, E437*, E1494*, E1244*, E1245*, E1451*, E1469*, E1471*, E1472*, E1492*, E1522*, E1536*, E1561*, E311*, E325*, E389*, E391*, E395*, E396*, E397*, E411*, E435*, E459*, E1414*, E1493*, E1497*, E1498*, E1537*, E1539*, E1540*, E1563*, E324*, E348*, E349*, E350*, E358*, E366*, E368*, E398*, E413*, E438*, E1413*, E1429*, E1430*, E1453*, E1470*, E1474*, E1499*, E1500*, E1513*, E1521*, E1538*, E328*, E329*, E356*, E370*, E393*, E412*, E436*, E460*, E673*, E1372*, E1412*, E1428*, E1452*, E1514*, E1515*, E270*, E310*, E367*, E371*, E390*, E399*, E434*, E672*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074384:C: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. |
|---|---|---|---|---|
| Pathogenic (2) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000112365.11 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Sep 08, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000300147.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Apr 06, 1999)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145131.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
|
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:
Variant allele predicted to encode a truncated non-functional protein.
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 rs80357248 ...
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 Nov 03, 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.