ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4544_4545dup (p.Ser1516fs)
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.
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4544_4545dup (p.Ser1516fs)
Variation ID: 1074789 Accession: VCV001074789.6
- Type and length
-
Duplication, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43074460-43074461 (GRCh38) [ NCBI UCSC ] 17: 41226477-41226478 (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 May 10, 2021 Feb 28, 2024 Dec 22, 2020 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.4544_4545dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1516fs frameshift NM_001407571.1:c.4330_4331dup NP_001394500.1:p.Ser1445Glyfs frameshift NM_001407581.1:c.4609_4610dup NP_001394510.1:p.Ser1538Glyfs frameshift NM_001407582.1:c.4609_4610dup NP_001394511.1:p.Ser1538Glyfs frameshift NM_001407583.1:c.4606_4607dup NP_001394512.1:p.Ser1537Glyfs frameshift NM_001407585.1:c.4606_4607dup NP_001394514.1:p.Ser1537Glyfs frameshift NM_001407587.1:c.4606_4607dup NP_001394516.1:p.Ser1537Glyfs frameshift NM_001407590.1:c.4603_4604dup NP_001394519.1:p.Ser1536Glyfs frameshift NM_001407591.1:c.4603_4604dup NP_001394520.1:p.Ser1536Glyfs frameshift NM_001407593.1:c.4543_4544dup NP_001394522.1:p.Ser1516Glyfs frameshift NM_001407594.1:c.4543_4544dup NP_001394523.1:p.Ser1516Glyfs frameshift NM_001407596.1:c.4543_4544dup NP_001394525.1:p.Ser1516Glyfs frameshift NM_001407597.1:c.4543_4544dup NP_001394526.1:p.Ser1516Glyfs frameshift NM_001407598.1:c.4543_4544dup NP_001394527.1:p.Ser1516Glyfs frameshift NM_001407602.1:c.4543_4544dup NP_001394531.1:p.Ser1516Glyfs frameshift NM_001407603.1:c.4543_4544dup NP_001394532.1:p.Ser1516Glyfs frameshift NM_001407605.1:c.4543_4544dup NP_001394534.1:p.Ser1516Glyfs frameshift NM_001407610.1:c.4540_4541dup NP_001394539.1:p.Ser1515Glyfs frameshift NM_001407611.1:c.4540_4541dup NP_001394540.1:p.Ser1515Glyfs frameshift NM_001407612.1:c.4540_4541dup NP_001394541.1:p.Ser1515Glyfs frameshift NM_001407613.1:c.4540_4541dup NP_001394542.1:p.Ser1515Glyfs frameshift NM_001407614.1:c.4540_4541dup NP_001394543.1:p.Ser1515Glyfs frameshift NM_001407615.1:c.4540_4541dup NP_001394544.1:p.Ser1515Glyfs frameshift NM_001407616.1:c.4540_4541dup NP_001394545.1:p.Ser1515Glyfs frameshift NM_001407617.1:c.4540_4541dup NP_001394546.1:p.Ser1515Glyfs frameshift NM_001407618.1:c.4540_4541dup NP_001394547.1:p.Ser1515Glyfs frameshift NM_001407619.1:c.4540_4541dup NP_001394548.1:p.Ser1515Glyfs frameshift NM_001407620.1:c.4540_4541dup NP_001394549.1:p.Ser1515Glyfs frameshift NM_001407621.1:c.4540_4541dup NP_001394550.1:p.Ser1515Glyfs frameshift NM_001407622.1:c.4540_4541dup NP_001394551.1:p.Ser1515Glyfs frameshift NM_001407623.1:c.4540_4541dup NP_001394552.1:p.Ser1515Glyfs frameshift NM_001407624.1:c.4540_4541dup NP_001394553.1:p.Ser1515Glyfs frameshift NM_001407625.1:c.4540_4541dup NP_001394554.1:p.Ser1515Glyfs frameshift NM_001407626.1:c.4540_4541dup NP_001394555.1:p.Ser1515Glyfs frameshift NM_001407627.1:c.4537_4538dup NP_001394556.1:p.Ser1514Glyfs frameshift NM_001407628.1:c.4537_4538dup NP_001394557.1:p.Ser1514Glyfs frameshift NM_001407629.1:c.4537_4538dup NP_001394558.1:p.Ser1514Glyfs frameshift NM_001407630.1:c.4537_4538dup NP_001394559.1:p.Ser1514Glyfs frameshift NM_001407631.1:c.4537_4538dup NP_001394560.1:p.Ser1514Glyfs frameshift NM_001407632.1:c.4537_4538dup NP_001394561.1:p.Ser1514Glyfs frameshift NM_001407633.1:c.4537_4538dup NP_001394562.1:p.Ser1514Glyfs frameshift NM_001407634.1:c.4537_4538dup NP_001394563.1:p.Ser1514Glyfs frameshift NM_001407635.1:c.4537_4538dup NP_001394564.1:p.Ser1514Glyfs frameshift NM_001407636.1:c.4537_4538dup NP_001394565.1:p.Ser1514Glyfs frameshift NM_001407637.1:c.4537_4538dup NP_001394566.1:p.Ser1514Glyfs frameshift NM_001407638.1:c.4537_4538dup NP_001394567.1:p.Ser1514Glyfs frameshift NM_001407639.1:c.4537_4538dup NP_001394568.1:p.Ser1514Glyfs frameshift NM_001407640.1:c.4537_4538dup NP_001394569.1:p.Ser1514Glyfs frameshift NM_001407641.1:c.4537_4538dup NP_001394570.1:p.Ser1514Glyfs frameshift NM_001407642.1:c.4537_4538dup NP_001394571.1:p.Ser1514Glyfs frameshift NM_001407644.1:c.4534_4535dup NP_001394573.1:p.Ser1513Glyfs frameshift NM_001407645.1:c.4534_4535dup NP_001394574.1:p.Ser1513Glyfs frameshift NM_001407646.1:c.4531_4532dup NP_001394575.1:p.Ser1512Glyfs frameshift NM_001407647.1:c.4528_4529dup NP_001394576.1:p.Ser1511Glyfs frameshift NM_001407648.1:c.4486_4487dup NP_001394577.1:p.Ser1497Glyfs frameshift NM_001407649.1:c.4483_4484dup NP_001394578.1:p.Ser1496Glyfs frameshift NM_001407652.1:c.4543_4544dup NP_001394581.1:p.Ser1516Glyfs frameshift NM_001407653.1:c.4465_4466dup NP_001394582.1:p.Ser1490Glyfs frameshift NM_001407654.1:c.4465_4466dup NP_001394583.1:p.Ser1490Glyfs frameshift NM_001407655.1:c.4465_4466dup NP_001394584.1:p.Ser1490Glyfs frameshift NM_001407656.1:c.4462_4463dup NP_001394585.1:p.Ser1489Glyfs frameshift NM_001407657.1:c.4462_4463dup NP_001394586.1:p.Ser1489Glyfs frameshift NM_001407658.1:c.4462_4463dup NP_001394587.1:p.Ser1489Glyfs frameshift NM_001407659.1:c.4459_4460dup NP_001394588.1:p.Ser1488Glyfs frameshift NM_001407660.1:c.4459_4460dup NP_001394589.1:p.Ser1488Glyfs frameshift NM_001407661.1:c.4459_4460dup NP_001394590.1:p.Ser1488Glyfs frameshift NM_001407662.1:c.4459_4460dup NP_001394591.1:p.Ser1488Glyfs frameshift NM_001407663.1:c.4459_4460dup NP_001394592.1:p.Ser1488Glyfs frameshift NM_001407664.1:c.4420_4421dup NP_001394593.1:p.Ser1475Glyfs frameshift NM_001407665.1:c.4420_4421dup NP_001394594.1:p.Ser1475Glyfs frameshift NM_001407666.1:c.4420_4421dup NP_001394595.1:p.Ser1475Glyfs frameshift NM_001407667.1:c.4420_4421dup NP_001394596.1:p.Ser1475Glyfs frameshift NM_001407668.1:c.4420_4421dup NP_001394597.1:p.Ser1475Glyfs frameshift NM_001407669.1:c.4420_4421dup NP_001394598.1:p.Ser1475Glyfs frameshift NM_001407670.1:c.4417_4418dup NP_001394599.1:p.Ser1474Glyfs frameshift NM_001407671.1:c.4417_4418dup NP_001394600.1:p.Ser1474Glyfs frameshift NM_001407672.1:c.4417_4418dup NP_001394601.1:p.Ser1474Glyfs frameshift NM_001407673.1:c.4417_4418dup NP_001394602.1:p.Ser1474Glyfs frameshift NM_001407674.1:c.4417_4418dup NP_001394603.1:p.Ser1474Glyfs frameshift NM_001407675.1:c.4417_4418dup NP_001394604.1:p.Ser1474Glyfs frameshift NM_001407676.1:c.4417_4418dup NP_001394605.1:p.Ser1474Glyfs frameshift NM_001407677.1:c.4417_4418dup NP_001394606.1:p.Ser1474Glyfs frameshift NM_001407678.1:c.4417_4418dup NP_001394607.1:p.Ser1474Glyfs frameshift NM_001407679.1:c.4417_4418dup NP_001394608.1:p.Ser1474Glyfs frameshift NM_001407680.1:c.4417_4418dup NP_001394609.1:p.Ser1474Glyfs frameshift NM_001407681.1:c.4414_4415dup NP_001394610.1:p.Ser1473Glyfs frameshift NM_001407682.1:c.4414_4415dup NP_001394611.1:p.Ser1473Glyfs frameshift NM_001407683.1:c.4414_4415dup NP_001394612.1:p.Ser1473Glyfs frameshift NM_001407684.1:c.4543_4544dup NP_001394613.1:p.Ser1516Glyfs frameshift NM_001407685.1:c.4414_4415dup NP_001394614.1:p.Ser1473Glyfs frameshift NM_001407686.1:c.4414_4415dup NP_001394615.1:p.Ser1473Glyfs frameshift NM_001407687.1:c.4414_4415dup NP_001394616.1:p.Ser1473Glyfs frameshift NM_001407688.1:c.4414_4415dup NP_001394617.1:p.Ser1473Glyfs frameshift NM_001407689.1:c.4414_4415dup NP_001394618.1:p.Ser1473Glyfs frameshift NM_001407690.1:c.4411_4412dup NP_001394619.1:p.Ser1472Glyfs frameshift NM_001407691.1:c.4411_4412dup NP_001394620.1:p.Ser1472Glyfs frameshift NM_001407692.1:c.4402_4403dup NP_001394621.1:p.Ser1469Glyfs frameshift NM_001407694.1:c.4402_4403dup NP_001394623.1:p.Ser1469Glyfs frameshift NM_001407695.1:c.4402_4403dup NP_001394624.1:p.Ser1469Glyfs frameshift NM_001407696.1:c.4402_4403dup NP_001394625.1:p.Ser1469Glyfs frameshift NM_001407697.1:c.4402_4403dup NP_001394626.1:p.Ser1469Glyfs frameshift NM_001407698.1:c.4402_4403dup NP_001394627.1:p.Ser1469Glyfs frameshift NM_001407724.1:c.4402_4403dup NP_001394653.1:p.Ser1469Glyfs frameshift NM_001407725.1:c.4402_4403dup NP_001394654.1:p.Ser1469Glyfs frameshift NM_001407726.1:c.4402_4403dup NP_001394655.1:p.Ser1469Glyfs frameshift NM_001407727.1:c.4402_4403dup NP_001394656.1:p.Ser1469Glyfs frameshift NM_001407728.1:c.4402_4403dup NP_001394657.1:p.Ser1469Glyfs frameshift NM_001407729.1:c.4402_4403dup NP_001394658.1:p.Ser1469Glyfs frameshift NM_001407730.1:c.4402_4403dup NP_001394659.1:p.Ser1469Glyfs frameshift NM_001407731.1:c.4402_4403dup NP_001394660.1:p.Ser1469Glyfs frameshift NM_001407732.1:c.4399_4400dup NP_001394661.1:p.Ser1468Glyfs frameshift NM_001407733.1:c.4399_4400dup NP_001394662.1:p.Ser1468Glyfs frameshift NM_001407734.1:c.4399_4400dup NP_001394663.1:p.Ser1468Glyfs frameshift NM_001407735.1:c.4399_4400dup NP_001394664.1:p.Ser1468Glyfs frameshift NM_001407736.1:c.4399_4400dup NP_001394665.1:p.Ser1468Glyfs frameshift NM_001407737.1:c.4399_4400dup NP_001394666.1:p.Ser1468Glyfs frameshift NM_001407738.1:c.4399_4400dup NP_001394667.1:p.Ser1468Glyfs frameshift NM_001407739.1:c.4399_4400dup NP_001394668.1:p.Ser1468Glyfs frameshift NM_001407740.1:c.4399_4400dup NP_001394669.1:p.Ser1468Glyfs frameshift NM_001407741.1:c.4399_4400dup NP_001394670.1:p.Ser1468Glyfs frameshift NM_001407742.1:c.4399_4400dup NP_001394671.1:p.Ser1468Glyfs frameshift NM_001407743.1:c.4399_4400dup NP_001394672.1:p.Ser1468Glyfs frameshift NM_001407744.1:c.4399_4400dup NP_001394673.1:p.Ser1468Glyfs frameshift NM_001407745.1:c.4399_4400dup NP_001394674.1:p.Ser1468Glyfs frameshift NM_001407746.1:c.4399_4400dup NP_001394675.1:p.Ser1468Glyfs frameshift NM_001407747.1:c.4399_4400dup NP_001394676.1:p.Ser1468Glyfs frameshift NM_001407748.1:c.4399_4400dup NP_001394677.1:p.Ser1468Glyfs frameshift NM_001407749.1:c.4399_4400dup NP_001394678.1:p.Ser1468Glyfs frameshift NM_001407750.1:c.4399_4400dup NP_001394679.1:p.Ser1468Glyfs frameshift NM_001407751.1:c.4399_4400dup NP_001394680.1:p.Ser1468Glyfs frameshift NM_001407752.1:c.4399_4400dup NP_001394681.1:p.Ser1468Glyfs frameshift NM_001407838.1:c.4396_4397dup NP_001394767.1:p.Ser1467Glyfs frameshift NM_001407839.1:c.4396_4397dup NP_001394768.1:p.Ser1467Glyfs frameshift NM_001407841.1:c.4396_4397dup NP_001394770.1:p.Ser1467Glyfs frameshift NM_001407842.1:c.4396_4397dup NP_001394771.1:p.Ser1467Glyfs frameshift NM_001407843.1:c.4396_4397dup NP_001394772.1:p.Ser1467Glyfs frameshift NM_001407844.1:c.4396_4397dup NP_001394773.1:p.Ser1467Glyfs frameshift NM_001407845.1:c.4396_4397dup NP_001394774.1:p.Ser1467Glyfs frameshift NM_001407846.1:c.4396_4397dup NP_001394775.1:p.Ser1467Glyfs frameshift NM_001407847.1:c.4396_4397dup NP_001394776.1:p.Ser1467Glyfs frameshift NM_001407848.1:c.4396_4397dup NP_001394777.1:p.Ser1467Glyfs frameshift NM_001407849.1:c.4396_4397dup NP_001394778.1:p.Ser1467Glyfs frameshift NM_001407850.1:c.4396_4397dup NP_001394779.1:p.Ser1467Glyfs frameshift NM_001407851.1:c.4396_4397dup NP_001394780.1:p.Ser1467Glyfs frameshift NM_001407852.1:c.4396_4397dup NP_001394781.1:p.Ser1467Glyfs frameshift NM_001407853.1:c.4396_4397dup NP_001394782.1:p.Ser1467Glyfs frameshift NM_001407854.1:c.4543_4544dup NP_001394783.1:p.Ser1516Glyfs frameshift NM_001407858.1:c.4540_4541dup NP_001394787.1:p.Ser1515Glyfs frameshift NM_001407859.1:c.4540_4541dup NP_001394788.1:p.Ser1515Glyfs frameshift NM_001407860.1:c.4540_4541dup NP_001394789.1:p.Ser1515Glyfs frameshift NM_001407861.1:c.4537_4538dup NP_001394790.1:p.Ser1514Glyfs frameshift NM_001407862.1:c.4342_4343dup NP_001394791.1:p.Ser1449Glyfs frameshift NM_001407863.1:c.4417_4418dup NP_001394792.1:p.Ser1474Glyfs frameshift NM_001407874.1:c.4336_4337dup NP_001394803.1:p.Ser1447Glyfs frameshift NM_001407875.1:c.4336_4337dup NP_001394804.1:p.Ser1447Glyfs frameshift NM_001407879.1:c.4333_4334dup NP_001394808.1:p.Ser1446Glyfs frameshift NM_001407881.1:c.4333_4334dup NP_001394810.1:p.Ser1446Glyfs frameshift NM_001407882.1:c.4333_4334dup NP_001394811.1:p.Ser1446Glyfs frameshift NM_001407884.1:c.4333_4334dup NP_001394813.1:p.Ser1446Glyfs frameshift NM_001407885.1:c.4333_4334dup NP_001394814.1:p.Ser1446Glyfs frameshift NM_001407886.1:c.4333_4334dup NP_001394815.1:p.Ser1446Glyfs frameshift NM_001407887.1:c.4333_4334dup NP_001394816.1:p.Ser1446Glyfs frameshift NM_001407889.1:c.4333_4334dup NP_001394818.1:p.Ser1446Glyfs frameshift NM_001407894.1:c.4330_4331dup NP_001394823.1:p.Ser1445Glyfs frameshift NM_001407895.1:c.4330_4331dup NP_001394824.1:p.Ser1445Glyfs frameshift NM_001407896.1:c.4330_4331dup NP_001394825.1:p.Ser1445Glyfs frameshift NM_001407897.1:c.4330_4331dup NP_001394826.1:p.Ser1445Glyfs frameshift NM_001407898.1:c.4330_4331dup NP_001394827.1:p.Ser1445Glyfs frameshift NM_001407899.1:c.4330_4331dup NP_001394828.1:p.Ser1445Glyfs frameshift NM_001407900.1:c.4330_4331dup NP_001394829.1:p.Ser1445Glyfs frameshift NM_001407902.1:c.4330_4331dup NP_001394831.1:p.Ser1445Glyfs frameshift NM_001407904.1:c.4330_4331dup NP_001394833.1:p.Ser1445Glyfs frameshift NM_001407906.1:c.4330_4331dup NP_001394835.1:p.Ser1445Glyfs frameshift NM_001407907.1:c.4330_4331dup NP_001394836.1:p.Ser1445Glyfs frameshift NM_001407908.1:c.4330_4331dup NP_001394837.1:p.Ser1445Glyfs frameshift NM_001407909.1:c.4330_4331dup NP_001394838.1:p.Ser1445Glyfs frameshift NM_001407910.1:c.4330_4331dup NP_001394839.1:p.Ser1445Glyfs frameshift NM_001407915.1:c.4327_4328dup NP_001394844.1:p.Ser1444Glyfs frameshift NM_001407916.1:c.4327_4328dup NP_001394845.1:p.Ser1444Glyfs frameshift NM_001407917.1:c.4327_4328dup NP_001394846.1:p.Ser1444Glyfs frameshift NM_001407918.1:c.4327_4328dup NP_001394847.1:p.Ser1444Glyfs frameshift NM_001407919.1:c.4420_4421dup NP_001394848.1:p.Ser1475Glyfs frameshift NM_001407920.1:c.4279_4280dup NP_001394849.1:p.Ser1428Glyfs frameshift NM_001407921.1:c.4279_4280dup NP_001394850.1:p.Ser1428Glyfs frameshift NM_001407922.1:c.4279_4280dup NP_001394851.1:p.Ser1428Glyfs frameshift NM_001407923.1:c.4279_4280dup NP_001394852.1:p.Ser1428Glyfs frameshift NM_001407924.1:c.4279_4280dup NP_001394853.1:p.Ser1428Glyfs frameshift NM_001407925.1:c.4279_4280dup NP_001394854.1:p.Ser1428Glyfs frameshift NM_001407926.1:c.4279_4280dup NP_001394855.1:p.Ser1428Glyfs frameshift NM_001407927.1:c.4276_4277dup NP_001394856.1:p.Ser1427Glyfs frameshift NM_001407928.1:c.4276_4277dup NP_001394857.1:p.Ser1427Glyfs frameshift NM_001407929.1:c.4276_4277dup NP_001394858.1:p.Ser1427Glyfs frameshift NM_001407930.1:c.4276_4277dup NP_001394859.1:p.Ser1427Glyfs frameshift NM_001407931.1:c.4276_4277dup NP_001394860.1:p.Ser1427Glyfs frameshift NM_001407932.1:c.4276_4277dup NP_001394861.1:p.Ser1427Glyfs frameshift NM_001407933.1:c.4276_4277dup NP_001394862.1:p.Ser1427Glyfs frameshift NM_001407934.1:c.4273_4274dup NP_001394863.1:p.Ser1426Glyfs frameshift NM_001407935.1:c.4273_4274dup NP_001394864.1:p.Ser1426Glyfs frameshift NM_001407936.1:c.4273_4274dup NP_001394865.1:p.Ser1426Glyfs frameshift NM_001407937.1:c.4420_4421dup NP_001394866.1:p.Ser1475Glyfs frameshift NM_001407938.1:c.4420_4421dup NP_001394867.1:p.Ser1475Glyfs frameshift NM_001407939.1:c.4417_4418dup NP_001394868.1:p.Ser1474Glyfs frameshift NM_001407940.1:c.4417_4418dup NP_001394869.1:p.Ser1474Glyfs frameshift NM_001407941.1:c.4414_4415dup NP_001394870.1:p.Ser1473Glyfs frameshift NM_001407942.1:c.4402_4403dup NP_001394871.1:p.Ser1469Glyfs frameshift NM_001407943.1:c.4399_4400dup NP_001394872.1:p.Ser1468Glyfs frameshift NM_001407944.1:c.4399_4400dup NP_001394873.1:p.Ser1468Glyfs frameshift NM_001407945.1:c.4399_4400dup NP_001394874.1:p.Ser1468Glyfs frameshift NM_001407946.1:c.4210_4211dup NP_001394875.1:p.Ser1405Glyfs frameshift NM_001407947.1:c.4210_4211dup NP_001394876.1:p.Ser1405Glyfs frameshift NM_001407948.1:c.4210_4211dup NP_001394877.1:p.Ser1405Glyfs frameshift NM_001407949.1:c.4210_4211dup NP_001394878.1:p.Ser1405Glyfs frameshift NM_001407950.1:c.4207_4208dup NP_001394879.1:p.Ser1404Glyfs frameshift NM_001407951.1:c.4207_4208dup NP_001394880.1:p.Ser1404Glyfs frameshift NM_001407952.1:c.4207_4208dup NP_001394881.1:p.Ser1404Glyfs frameshift NM_001407953.1:c.4207_4208dup NP_001394882.1:p.Ser1404Glyfs frameshift NM_001407954.1:c.4207_4208dup NP_001394883.1:p.Ser1404Glyfs frameshift NM_001407955.1:c.4207_4208dup NP_001394884.1:p.Ser1404Glyfs frameshift NM_001407956.1:c.4204_4205dup NP_001394885.1:p.Ser1403Glyfs frameshift NM_001407957.1:c.4204_4205dup NP_001394886.1:p.Ser1403Glyfs frameshift NM_001407958.1:c.4204_4205dup NP_001394887.1:p.Ser1403Glyfs frameshift NM_001407959.1:c.4162_4163dup NP_001394888.1:p.Ser1389Glyfs frameshift NM_001407960.1:c.4159_4160dup NP_001394889.1:p.Ser1388Glyfs frameshift NM_001407962.1:c.4159_4160dup NP_001394891.1:p.Ser1388Glyfs frameshift NM_001407963.1:c.4156_4157dup NP_001394892.1:p.Ser1387Glyfs frameshift NM_001407965.1:c.4036_4037dup NP_001394894.1:p.Ser1347Glyfs frameshift NM_001407966.1:c.3655_3656dup NP_001394895.1:p.Ser1220Glyfs frameshift NM_001407967.1:c.3652_3653dup NP_001394896.1:p.Ser1219Glyfs frameshift NM_001407968.1:c.1939_1940dup NP_001394897.1:p.Ser648Glyfs frameshift NM_001407969.1:c.1936_1937dup NP_001394898.1:p.Ser647Glyfs frameshift NM_001407970.1:c.1300_1301dup NP_001394899.1:p.Ser435Glyfs frameshift NM_001407971.1:c.1300_1301dup NP_001394900.1:p.Ser435Glyfs frameshift NM_001407972.1:c.1297_1298dup NP_001394901.1:p.Ser434Glyfs frameshift NM_001407973.1:c.1234_1235dup NP_001394902.1:p.Ser413Glyfs frameshift NM_001407974.1:c.1234_1235dup NP_001394903.1:p.Ser413Glyfs frameshift NM_001407975.1:c.1234_1235dup NP_001394904.1:p.Ser413Glyfs frameshift NM_001407976.1:c.1234_1235dup NP_001394905.1:p.Ser413Glyfs frameshift NM_001407977.1:c.1234_1235dup NP_001394906.1:p.Ser413Glyfs frameshift NM_001407978.1:c.1234_1235dup NP_001394907.1:p.Ser413Glyfs frameshift NM_001407979.1:c.1231_1232dup NP_001394908.1:p.Ser412Glyfs frameshift NM_001407980.1:c.1231_1232dup NP_001394909.1:p.Ser412Glyfs frameshift NM_001407981.1:c.1231_1232dup NP_001394910.1:p.Ser412Glyfs frameshift NM_001407982.1:c.1231_1232dup NP_001394911.1:p.Ser412Glyfs frameshift NM_001407983.1:c.1231_1232dup NP_001394912.1:p.Ser412Glyfs frameshift NM_001407984.1:c.1231_1232dup NP_001394913.1:p.Ser412Glyfs frameshift NM_001407985.1:c.1231_1232dup NP_001394914.1:p.Ser412Glyfs frameshift NM_001407986.1:c.1231_1232dup NP_001394915.1:p.Ser412Glyfs frameshift NM_001407990.1:c.1231_1232dup NP_001394919.1:p.Ser412Glyfs frameshift NM_001407991.1:c.1231_1232dup NP_001394920.1:p.Ser412Glyfs frameshift NM_001407992.1:c.1231_1232dup NP_001394921.1:p.Ser412Glyfs frameshift NM_001407993.1:c.1231_1232dup NP_001394922.1:p.Ser412Glyfs frameshift NM_001408392.1:c.1228_1229dup NP_001395321.1:p.Ser411Glyfs frameshift NM_001408396.1:c.1228_1229dup NP_001395325.1:p.Ser411Glyfs frameshift NM_001408397.1:c.1228_1229dup NP_001395326.1:p.Ser411Glyfs frameshift NM_001408398.1:c.1228_1229dup NP_001395327.1:p.Ser411Glyfs frameshift NM_001408399.1:c.1228_1229dup NP_001395328.1:p.Ser411Glyfs frameshift NM_001408400.1:c.1228_1229dup NP_001395329.1:p.Ser411Glyfs frameshift NM_001408401.1:c.1228_1229dup NP_001395330.1:p.Ser411Glyfs frameshift NM_001408402.1:c.1228_1229dup NP_001395331.1:p.Ser411Glyfs frameshift NM_001408403.1:c.1228_1229dup NP_001395332.1:p.Ser411Glyfs frameshift NM_001408404.1:c.1228_1229dup NP_001395333.1:p.Ser411Glyfs frameshift NM_001408406.1:c.1225_1226dup NP_001395335.1:p.Ser410Glyfs frameshift NM_001408407.1:c.1225_1226dup NP_001395336.1:p.Ser410Glyfs frameshift NM_001408408.1:c.1225_1226dup NP_001395337.1:p.Ser410Glyfs frameshift NM_001408409.1:c.1222_1223dup NP_001395338.1:p.Ser409Glyfs frameshift NM_001408410.1:c.1159_1160dup NP_001395339.1:p.Ser388Glyfs frameshift NM_001408411.1:c.1156_1157dup NP_001395340.1:p.Ser387Glyfs frameshift NM_001408412.1:c.1153_1154dup NP_001395341.1:p.Ser386Glyfs frameshift NM_001408413.1:c.1153_1154dup NP_001395342.1:p.Ser386Glyfs frameshift NM_001408414.1:c.1153_1154dup NP_001395343.1:p.Ser386Glyfs frameshift NM_001408415.1:c.1153_1154dup NP_001395344.1:p.Ser386Glyfs frameshift NM_001408416.1:c.1153_1154dup NP_001395345.1:p.Ser386Glyfs frameshift NM_001408418.1:c.1117_1118dup NP_001395347.1:p.Ser374Glyfs frameshift NM_001408419.1:c.1117_1118dup NP_001395348.1:p.Ser374Glyfs frameshift NM_001408420.1:c.1117_1118dup NP_001395349.1:p.Ser374Glyfs frameshift NM_001408421.1:c.1114_1115dup NP_001395350.1:p.Ser373Glyfs frameshift NM_001408422.1:c.1114_1115dup NP_001395351.1:p.Ser373Glyfs frameshift NM_001408423.1:c.1114_1115dup NP_001395352.1:p.Ser373Glyfs frameshift NM_001408424.1:c.1114_1115dup NP_001395353.1:p.Ser373Glyfs frameshift NM_001408425.1:c.1111_1112dup NP_001395354.1:p.Ser372Glyfs frameshift NM_001408426.1:c.1111_1112dup NP_001395355.1:p.Ser372Glyfs frameshift NM_001408427.1:c.1111_1112dup NP_001395356.1:p.Ser372Glyfs frameshift NM_001408428.1:c.1111_1112dup NP_001395357.1:p.Ser372Glyfs frameshift NM_001408429.1:c.1111_1112dup NP_001395358.1:p.Ser372Glyfs frameshift NM_001408430.1:c.1111_1112dup NP_001395359.1:p.Ser372Glyfs frameshift NM_001408431.1:c.1111_1112dup NP_001395360.1:p.Ser372Glyfs frameshift NM_001408432.1:c.1108_1109dup NP_001395361.1:p.Ser371Glyfs frameshift NM_001408433.1:c.1108_1109dup NP_001395362.1:p.Ser371Glyfs frameshift NM_001408434.1:c.1108_1109dup NP_001395363.1:p.Ser371Glyfs frameshift NM_001408435.1:c.1108_1109dup NP_001395364.1:p.Ser371Glyfs frameshift NM_001408436.1:c.1108_1109dup NP_001395365.1:p.Ser371Glyfs frameshift NM_001408437.1:c.1108_1109dup NP_001395366.1:p.Ser371Glyfs frameshift NM_001408438.1:c.1108_1109dup NP_001395367.1:p.Ser371Glyfs frameshift NM_001408439.1:c.1108_1109dup NP_001395368.1:p.Ser371Glyfs frameshift NM_001408440.1:c.1108_1109dup NP_001395369.1:p.Ser371Glyfs frameshift NM_001408441.1:c.1108_1109dup NP_001395370.1:p.Ser371Glyfs frameshift NM_001408442.1:c.1108_1109dup NP_001395371.1:p.Ser371Glyfs frameshift NM_001408443.1:c.1108_1109dup NP_001395372.1:p.Ser371Glyfs frameshift NM_001408444.1:c.1108_1109dup NP_001395373.1:p.Ser371Glyfs frameshift NM_001408445.1:c.1105_1106dup NP_001395374.1:p.Ser370Glyfs frameshift NM_001408446.1:c.1105_1106dup NP_001395375.1:p.Ser370Glyfs frameshift NM_001408447.1:c.1105_1106dup NP_001395376.1:p.Ser370Glyfs frameshift NM_001408448.1:c.1105_1106dup NP_001395377.1:p.Ser370Glyfs frameshift NM_001408450.1:c.1105_1106dup NP_001395379.1:p.Ser370Glyfs frameshift NM_001408451.1:c.1099_1100dup NP_001395380.1:p.Ser368Glyfs frameshift NM_001408452.1:c.1093_1094dup NP_001395381.1:p.Ser366Glyfs frameshift NM_001408453.1:c.1093_1094dup NP_001395382.1:p.Ser366Glyfs frameshift NM_001408454.1:c.1093_1094dup NP_001395383.1:p.Ser366Glyfs frameshift NM_001408455.1:c.1093_1094dup NP_001395384.1:p.Ser366Glyfs frameshift NM_001408456.1:c.1093_1094dup NP_001395385.1:p.Ser366Glyfs frameshift NM_001408457.1:c.1093_1094dup NP_001395386.1:p.Ser366Glyfs frameshift NM_001408458.1:c.1090_1091dup NP_001395387.1:p.Ser365Glyfs frameshift NM_001408459.1:c.1090_1091dup NP_001395388.1:p.Ser365Glyfs frameshift NM_001408460.1:c.1090_1091dup NP_001395389.1:p.Ser365Glyfs frameshift NM_001408461.1:c.1090_1091dup NP_001395390.1:p.Ser365Glyfs frameshift NM_001408462.1:c.1090_1091dup NP_001395391.1:p.Ser365Glyfs frameshift NM_001408463.1:c.1090_1091dup NP_001395392.1:p.Ser365Glyfs frameshift NM_001408464.1:c.1090_1091dup NP_001395393.1:p.Ser365Glyfs frameshift NM_001408465.1:c.1090_1091dup NP_001395394.1:p.Ser365Glyfs frameshift NM_001408466.1:c.1090_1091dup NP_001395395.1:p.Ser365Glyfs frameshift NM_001408467.1:c.1090_1091dup NP_001395396.1:p.Ser365Glyfs frameshift NM_001408468.1:c.1087_1088dup NP_001395397.1:p.Ser364Glyfs frameshift NM_001408469.1:c.1087_1088dup NP_001395398.1:p.Ser364Glyfs frameshift NM_001408470.1:c.1087_1088dup NP_001395399.1:p.Ser364Glyfs frameshift NM_001408472.1:c.1231_1232dup NP_001395401.1:p.Ser412Glyfs frameshift NM_001408473.1:c.1228_1229dup NP_001395402.1:p.Ser411Glyfs frameshift NM_001408474.1:c.1033_1034dup NP_001395403.1:p.Ser346Glyfs frameshift NM_001408475.1:c.1030_1031dup NP_001395404.1:p.Ser345Glyfs frameshift NM_001408476.1:c.1030_1031dup NP_001395405.1:p.Ser345Glyfs frameshift NM_001408478.1:c.1024_1025dup NP_001395407.1:p.Ser343Glyfs frameshift NM_001408479.1:c.1024_1025dup NP_001395408.1:p.Ser343Glyfs frameshift NM_001408480.1:c.1024_1025dup NP_001395409.1:p.Ser343Glyfs frameshift NM_001408481.1:c.1021_1022dup NP_001395410.1:p.Ser342Glyfs frameshift NM_001408482.1:c.1021_1022dup NP_001395411.1:p.Ser342Glyfs frameshift NM_001408483.1:c.1021_1022dup NP_001395412.1:p.Ser342Glyfs frameshift NM_001408484.1:c.1021_1022dup NP_001395413.1:p.Ser342Glyfs frameshift NM_001408485.1:c.1021_1022dup NP_001395414.1:p.Ser342Glyfs frameshift NM_001408489.1:c.1021_1022dup NP_001395418.1:p.Ser342Glyfs frameshift NM_001408490.1:c.1021_1022dup NP_001395419.1:p.Ser342Glyfs frameshift NM_001408491.1:c.1021_1022dup NP_001395420.1:p.Ser342Glyfs frameshift NM_001408492.1:c.1018_1019dup NP_001395421.1:p.Ser341Glyfs frameshift NM_001408493.1:c.1018_1019dup NP_001395422.1:p.Ser341Glyfs frameshift NM_001408494.1:c.994_995dup NP_001395423.1:p.Ser333Glyfs frameshift NM_001408495.1:c.988_989dup NP_001395424.1:p.Ser331Glyfs frameshift NM_001408496.1:c.970_971dup NP_001395425.1:p.Ser325Glyfs frameshift NM_001408497.1:c.970_971dup NP_001395426.1:p.Ser325Glyfs frameshift NM_001408498.1:c.970_971dup NP_001395427.1:p.Ser325Glyfs frameshift NM_001408499.1:c.970_971dup NP_001395428.1:p.Ser325Glyfs frameshift NM_001408500.1:c.970_971dup NP_001395429.1:p.Ser325Glyfs frameshift NM_001408501.1:c.970_971dup NP_001395430.1:p.Ser325Glyfs frameshift NM_001408502.1:c.967_968dup NP_001395431.1:p.Ser324Glyfs frameshift NM_001408503.1:c.967_968dup NP_001395432.1:p.Ser324Glyfs frameshift NM_001408504.1:c.967_968dup NP_001395433.1:p.Ser324Glyfs frameshift NM_001408505.1:c.964_965dup NP_001395434.1:p.Ser323Glyfs frameshift NM_001408506.1:c.907_908dup NP_001395435.1:p.Ser304Glyfs frameshift NM_001408507.1:c.904_905dup NP_001395436.1:p.Ser303Glyfs frameshift NM_001408508.1:c.895_896dup NP_001395437.1:p.Ser300Glyfs frameshift NM_001408509.1:c.892_893dup NP_001395438.1:p.Ser299Glyfs frameshift NM_001408510.1:c.853_854dup NP_001395439.1:p.Ser286Glyfs frameshift NM_001408511.1:c.850_851dup NP_001395440.1:p.Ser285Glyfs frameshift NM_001408512.1:c.730_731dup NP_001395441.1:p.Ser245Glyfs frameshift NM_007297.4:c.4403_4404dup NP_009228.2:p.Ser1469fs frameshift NM_007298.4:c.1231_1232dup NP_009229.2:p.Ser412Glyfs frameshift NM_007299.4:c.1232_1233dup NP_009230.2:p.Ser412fs frameshift NM_007300.4:c.4607_4608dup NP_009231.2:p.Ser1537fs frameshift NM_007304.2:c.1231_1232dup NP_009235.2:p.Ser412Glyfs frameshift NR_027676.2:n.4721_4722dup non-coding transcript variant NC_000017.11:g.43074462_43074463dup NC_000017.10:g.41226479_41226480dup NG_005905.2:g.143522_143523dup LRG_292:g.143522_143523dup LRG_292t1:c.4543_4544dup LRG_292p1:p.Ser1516Glyfs - Protein change
- S1469fs, S1516fs, S1537fs, S412fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074460:CCC:CCCCC
-
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 | ||
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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 |
13021 | 14825 |
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 (1) |
criteria provided, single submitter
|
Dec 22, 2020 | RCV001388202.6 |
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. |
|
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Pathogenic
(Dec 22, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001589074.4
First in ClinVar: May 10, 2021 Last updated: Feb 28, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This … (more)
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser1516Glyfs*33) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). (less)
|
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. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for rs2154015072 ...
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.