Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4569_4572del (p.Ser1524fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Oct 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4569_4572del (p.Ser1524fs)
Variation ID: 266483 Accession: VCV000266483.6
- Type and length
-
Deletion, 4 bp
- Location
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Cytogenetic: 17q21.31 17: 43074434-43074437 (GRCh38) [ NCBI UCSC ] 17: 41226451-41226454 (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 Oct 22, 2016 Feb 7, 2023 Oct 18, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4569_4572del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1524fs frameshift NM_001407571.1:c.4356_4359delATCT NP_001394500.1:p.Ser1453Lysfs frameshift NM_001407581.1:c.4635_4638delATCT NP_001394510.1:p.Ser1546Lysfs frameshift NM_001407582.1:c.4635_4638delATCT NP_001394511.1:p.Ser1546Lysfs frameshift NM_001407583.1:c.4632_4635delATCT NP_001394512.1:p.Ser1545Lysfs frameshift NM_001407585.1:c.4632_4635delATCT NP_001394514.1:p.Ser1545Lysfs frameshift NM_001407587.1:c.4632_4635delATCT NP_001394516.1:p.Ser1545Lysfs frameshift NM_001407590.1:c.4629_4632delATCT NP_001394519.1:p.Ser1544Lysfs frameshift NM_001407591.1:c.4629_4632delATCT NP_001394520.1:p.Ser1544Lysfs frameshift NM_001407593.1:c.4569_4572delATCT NP_001394522.1:p.Ser1524Lysfs frameshift NM_001407594.1:c.4569_4572delATCT NP_001394523.1:p.Ser1524Lysfs frameshift NM_001407596.1:c.4569_4572delATCT NP_001394525.1:p.Ser1524Lysfs frameshift NM_001407597.1:c.4569_4572delATCT NP_001394526.1:p.Ser1524Lysfs frameshift NM_001407598.1:c.4569_4572delATCT NP_001394527.1:p.Ser1524Lysfs frameshift NM_001407602.1:c.4569_4572delATCT NP_001394531.1:p.Ser1524Lysfs frameshift NM_001407603.1:c.4569_4572delATCT NP_001394532.1:p.Ser1524Lysfs frameshift NM_001407605.1:c.4569_4572delATCT NP_001394534.1:p.Ser1524Lysfs frameshift NM_001407610.1:c.4566_4569delATCT NP_001394539.1:p.Ser1523Lysfs frameshift NM_001407611.1:c.4566_4569delATCT NP_001394540.1:p.Ser1523Lysfs frameshift NM_001407612.1:c.4566_4569delATCT NP_001394541.1:p.Ser1523Lysfs frameshift NM_001407613.1:c.4566_4569delATCT NP_001394542.1:p.Ser1523Lysfs frameshift NM_001407614.1:c.4566_4569delATCT NP_001394543.1:p.Ser1523Lysfs frameshift NM_001407615.1:c.4566_4569delATCT NP_001394544.1:p.Ser1523Lysfs frameshift NM_001407616.1:c.4566_4569delATCT NP_001394545.1:p.Ser1523Lysfs frameshift NM_001407617.1:c.4566_4569delATCT NP_001394546.1:p.Ser1523Lysfs frameshift NM_001407618.1:c.4566_4569delATCT NP_001394547.1:p.Ser1523Lysfs frameshift NM_001407619.1:c.4566_4569delATCT NP_001394548.1:p.Ser1523Lysfs frameshift NM_001407620.1:c.4566_4569delATCT NP_001394549.1:p.Ser1523Lysfs frameshift NM_001407621.1:c.4566_4569delATCT NP_001394550.1:p.Ser1523Lysfs frameshift NM_001407622.1:c.4566_4569delATCT NP_001394551.1:p.Ser1523Lysfs frameshift NM_001407623.1:c.4566_4569delATCT NP_001394552.1:p.Ser1523Lysfs frameshift NM_001407624.1:c.4566_4569delATCT NP_001394553.1:p.Ser1523Lysfs frameshift NM_001407625.1:c.4566_4569delATCT NP_001394554.1:p.Ser1523Lysfs frameshift NM_001407626.1:c.4566_4569delATCT NP_001394555.1:p.Ser1523Lysfs frameshift NM_001407627.1:c.4563_4566delATCT NP_001394556.1:p.Ser1522Lysfs frameshift NM_001407628.1:c.4563_4566delATCT NP_001394557.1:p.Ser1522Lysfs frameshift NM_001407629.1:c.4563_4566delATCT NP_001394558.1:p.Ser1522Lysfs frameshift NM_001407630.1:c.4563_4566delATCT NP_001394559.1:p.Ser1522Lysfs frameshift NM_001407631.1:c.4563_4566delATCT NP_001394560.1:p.Ser1522Lysfs frameshift NM_001407632.1:c.4563_4566delATCT NP_001394561.1:p.Ser1522Lysfs frameshift NM_001407633.1:c.4563_4566delATCT NP_001394562.1:p.Ser1522Lysfs frameshift NM_001407634.1:c.4563_4566delATCT NP_001394563.1:p.Ser1522Lysfs frameshift NM_001407635.1:c.4563_4566delATCT NP_001394564.1:p.Ser1522Lysfs frameshift NM_001407636.1:c.4563_4566delATCT NP_001394565.1:p.Ser1522Lysfs frameshift NM_001407637.1:c.4563_4566delATCT NP_001394566.1:p.Ser1522Lysfs frameshift NM_001407638.1:c.4563_4566delATCT NP_001394567.1:p.Ser1522Lysfs frameshift NM_001407639.1:c.4563_4566delATCT NP_001394568.1:p.Ser1522Lysfs frameshift NM_001407640.1:c.4563_4566delATCT NP_001394569.1:p.Ser1522Lysfs frameshift NM_001407641.1:c.4563_4566delATCT NP_001394570.1:p.Ser1522Lysfs frameshift NM_001407642.1:c.4563_4566delATCT NP_001394571.1:p.Ser1522Lysfs frameshift NM_001407644.1:c.4560_4563delATCT NP_001394573.1:p.Ser1521Lysfs frameshift NM_001407645.1:c.4560_4563delATCT NP_001394574.1:p.Ser1521Lysfs frameshift NM_001407646.1:c.4557_4560delATCT NP_001394575.1:p.Ser1520Lysfs frameshift NM_001407647.1:c.4554_4557delATCT NP_001394576.1:p.Ser1519Lysfs frameshift NM_001407648.1:c.4512_4515delATCT NP_001394577.1:p.Ser1505Lysfs frameshift NM_001407649.1:c.4509_4512delATCT NP_001394578.1:p.Ser1504Lysfs frameshift NM_001407652.1:c.4569_4572delATCT NP_001394581.1:p.Ser1524Lysfs frameshift NM_001407653.1:c.4491_4494delATCT NP_001394582.1:p.Ser1498Lysfs frameshift NM_001407654.1:c.4491_4494delATCT NP_001394583.1:p.Ser1498Lysfs frameshift NM_001407655.1:c.4491_4494delATCT NP_001394584.1:p.Ser1498Lysfs frameshift NM_001407656.1:c.4488_4491delATCT NP_001394585.1:p.Ser1497Lysfs frameshift NM_001407657.1:c.4488_4491delATCT NP_001394586.1:p.Ser1497Lysfs frameshift NM_001407658.1:c.4488_4491delATCT NP_001394587.1:p.Ser1497Lysfs frameshift NM_001407659.1:c.4485_4488delATCT NP_001394588.1:p.Ser1496Lysfs frameshift NM_001407660.1:c.4485_4488delATCT NP_001394589.1:p.Ser1496Lysfs frameshift NM_001407661.1:c.4485_4488delATCT NP_001394590.1:p.Ser1496Lysfs frameshift NM_001407662.1:c.4485_4488delATCT NP_001394591.1:p.Ser1496Lysfs frameshift NM_001407663.1:c.4485_4488delATCT NP_001394592.1:p.Ser1496Lysfs frameshift NM_001407664.1:c.4446_4449delATCT NP_001394593.1:p.Ser1483Lysfs frameshift NM_001407665.1:c.4446_4449delATCT NP_001394594.1:p.Ser1483Lysfs frameshift NM_001407666.1:c.4446_4449delATCT NP_001394595.1:p.Ser1483Lysfs frameshift NM_001407667.1:c.4446_4449delATCT NP_001394596.1:p.Ser1483Lysfs frameshift NM_001407668.1:c.4446_4449delATCT NP_001394597.1:p.Ser1483Lysfs frameshift NM_001407669.1:c.4446_4449delATCT NP_001394598.1:p.Ser1483Lysfs frameshift NM_001407670.1:c.4443_4446delATCT NP_001394599.1:p.Ser1482Lysfs frameshift NM_001407671.1:c.4443_4446delATCT NP_001394600.1:p.Ser1482Lysfs frameshift NM_001407672.1:c.4443_4446delATCT NP_001394601.1:p.Ser1482Lysfs frameshift NM_001407673.1:c.4443_4446delATCT NP_001394602.1:p.Ser1482Lysfs frameshift NM_001407674.1:c.4443_4446delATCT NP_001394603.1:p.Ser1482Lysfs frameshift NM_001407675.1:c.4443_4446delATCT NP_001394604.1:p.Ser1482Lysfs frameshift NM_001407676.1:c.4443_4446delATCT NP_001394605.1:p.Ser1482Lysfs frameshift NM_001407677.1:c.4443_4446delATCT NP_001394606.1:p.Ser1482Lysfs frameshift NM_001407678.1:c.4443_4446delATCT NP_001394607.1:p.Ser1482Lysfs frameshift NM_001407679.1:c.4443_4446delATCT NP_001394608.1:p.Ser1482Lysfs frameshift NM_001407680.1:c.4443_4446delATCT NP_001394609.1:p.Ser1482Lysfs frameshift NM_001407681.1:c.4440_4443delATCT NP_001394610.1:p.Ser1481Lysfs frameshift NM_001407682.1:c.4440_4443delATCT NP_001394611.1:p.Ser1481Lysfs frameshift NM_001407683.1:c.4440_4443delATCT NP_001394612.1:p.Ser1481Lysfs frameshift NM_001407684.1:c.4569_4572delATCT NP_001394613.1:p.Ser1524Lysfs frameshift NM_001407685.1:c.4440_4443delATCT NP_001394614.1:p.Ser1481Lysfs frameshift NM_001407686.1:c.4440_4443delATCT NP_001394615.1:p.Ser1481Lysfs frameshift NM_001407687.1:c.4440_4443delATCT NP_001394616.1:p.Ser1481Lysfs frameshift NM_001407688.1:c.4440_4443delATCT NP_001394617.1:p.Ser1481Lysfs frameshift NM_001407689.1:c.4440_4443delATCT NP_001394618.1:p.Ser1481Lysfs frameshift NM_001407690.1:c.4437_4440delATCT NP_001394619.1:p.Ser1480Lysfs frameshift NM_001407691.1:c.4437_4440delATCT NP_001394620.1:p.Ser1480Lysfs frameshift NM_001407692.1:c.4428_4431delATCT NP_001394621.1:p.Ser1477Lysfs frameshift NM_001407694.1:c.4428_4431delATCT NP_001394623.1:p.Ser1477Lysfs frameshift NM_001407695.1:c.4428_4431delATCT NP_001394624.1:p.Ser1477Lysfs frameshift NM_001407696.1:c.4428_4431delATCT NP_001394625.1:p.Ser1477Lysfs frameshift NM_001407697.1:c.4428_4431delATCT NP_001394626.1:p.Ser1477Lysfs frameshift NM_001407698.1:c.4428_4431delATCT NP_001394627.1:p.Ser1477Lysfs frameshift NM_001407724.1:c.4428_4431delATCT NP_001394653.1:p.Ser1477Lysfs frameshift NM_001407725.1:c.4428_4431delATCT NP_001394654.1:p.Ser1477Lysfs frameshift NM_001407726.1:c.4428_4431delATCT NP_001394655.1:p.Ser1477Lysfs frameshift NM_001407727.1:c.4428_4431delATCT NP_001394656.1:p.Ser1477Lysfs frameshift NM_001407728.1:c.4428_4431delATCT NP_001394657.1:p.Ser1477Lysfs frameshift NM_001407729.1:c.4428_4431delATCT NP_001394658.1:p.Ser1477Lysfs frameshift NM_001407730.1:c.4428_4431delATCT NP_001394659.1:p.Ser1477Lysfs frameshift NM_001407731.1:c.4428_4431delATCT NP_001394660.1:p.Ser1477Lysfs frameshift NM_001407732.1:c.4425_4428delATCT NP_001394661.1:p.Ser1476Lysfs frameshift NM_001407733.1:c.4425_4428delATCT NP_001394662.1:p.Ser1476Lysfs frameshift NM_001407734.1:c.4425_4428delATCT NP_001394663.1:p.Ser1476Lysfs frameshift NM_001407735.1:c.4425_4428delATCT NP_001394664.1:p.Ser1476Lysfs frameshift NM_001407736.1:c.4425_4428delATCT NP_001394665.1:p.Ser1476Lysfs frameshift NM_001407737.1:c.4425_4428delATCT NP_001394666.1:p.Ser1476Lysfs frameshift NM_001407738.1:c.4425_4428delATCT NP_001394667.1:p.Ser1476Lysfs frameshift NM_001407739.1:c.4425_4428delATCT NP_001394668.1:p.Ser1476Lysfs frameshift NM_001407740.1:c.4425_4428delATCT NP_001394669.1:p.Ser1476Lysfs frameshift NM_001407741.1:c.4425_4428delATCT NP_001394670.1:p.Ser1476Lysfs frameshift NM_001407742.1:c.4425_4428delATCT NP_001394671.1:p.Ser1476Lysfs frameshift NM_001407743.1:c.4425_4428delATCT NP_001394672.1:p.Ser1476Lysfs frameshift NM_001407744.1:c.4425_4428delATCT NP_001394673.1:p.Ser1476Lysfs frameshift NM_001407745.1:c.4425_4428delATCT NP_001394674.1:p.Ser1476Lysfs frameshift NM_001407746.1:c.4425_4428delATCT NP_001394675.1:p.Ser1476Lysfs frameshift NM_001407747.1:c.4425_4428delATCT NP_001394676.1:p.Ser1476Lysfs frameshift NM_001407748.1:c.4425_4428delATCT NP_001394677.1:p.Ser1476Lysfs frameshift NM_001407749.1:c.4425_4428delATCT NP_001394678.1:p.Ser1476Lysfs frameshift NM_001407750.1:c.4425_4428delATCT NP_001394679.1:p.Ser1476Lysfs frameshift NM_001407751.1:c.4425_4428delATCT NP_001394680.1:p.Ser1476Lysfs frameshift NM_001407752.1:c.4425_4428delATCT NP_001394681.1:p.Ser1476Lysfs frameshift NM_001407838.1:c.4422_4425delATCT NP_001394767.1:p.Ser1475Lysfs frameshift NM_001407839.1:c.4422_4425delATCT NP_001394768.1:p.Ser1475Lysfs frameshift NM_001407841.1:c.4422_4425delATCT NP_001394770.1:p.Ser1475Lysfs frameshift NM_001407842.1:c.4422_4425delATCT NP_001394771.1:p.Ser1475Lysfs frameshift NM_001407843.1:c.4422_4425delATCT NP_001394772.1:p.Ser1475Lysfs frameshift NM_001407844.1:c.4422_4425delATCT NP_001394773.1:p.Ser1475Lysfs frameshift NM_001407845.1:c.4422_4425delATCT NP_001394774.1:p.Ser1475Lysfs frameshift NM_001407846.1:c.4422_4425delATCT NP_001394775.1:p.Ser1475Lysfs frameshift NM_001407847.1:c.4422_4425delATCT NP_001394776.1:p.Ser1475Lysfs frameshift NM_001407848.1:c.4422_4425delATCT NP_001394777.1:p.Ser1475Lysfs frameshift NM_001407849.1:c.4422_4425delATCT NP_001394778.1:p.Ser1475Lysfs frameshift NM_001407850.1:c.4422_4425delATCT NP_001394779.1:p.Ser1475Lysfs frameshift NM_001407851.1:c.4422_4425delATCT NP_001394780.1:p.Ser1475Lysfs frameshift NM_001407852.1:c.4422_4425delATCT NP_001394781.1:p.Ser1475Lysfs frameshift NM_001407853.1:c.4422_4425delATCT NP_001394782.1:p.Ser1475Lysfs frameshift NM_001407854.1:c.4569_4572delATCT NP_001394783.1:p.Ser1524Lysfs frameshift NM_001407858.1:c.4566_4569delATCT NP_001394787.1:p.Ser1523Lysfs frameshift NM_001407859.1:c.4566_4569delATCT NP_001394788.1:p.Ser1523Lysfs frameshift NM_001407860.1:c.4566_4569delATCT NP_001394789.1:p.Ser1523Lysfs frameshift NM_001407861.1:c.4563_4566delATCT NP_001394790.1:p.Ser1522Lysfs frameshift NM_001407862.1:c.4368_4371delATCT NP_001394791.1:p.Ser1457Lysfs frameshift NM_001407863.1:c.4443_4446delATCT NP_001394792.1:p.Ser1482Lysfs frameshift NM_001407874.1:c.4362_4365delATCT NP_001394803.1:p.Ser1455Lysfs frameshift NM_001407875.1:c.4362_4365delATCT NP_001394804.1:p.Ser1455Lysfs frameshift NM_001407879.1:c.4359_4362delATCT NP_001394808.1:p.Ser1454Lysfs frameshift NM_001407881.1:c.4359_4362delATCT NP_001394810.1:p.Ser1454Lysfs frameshift NM_001407882.1:c.4359_4362delATCT NP_001394811.1:p.Ser1454Lysfs frameshift NM_001407884.1:c.4359_4362delATCT NP_001394813.1:p.Ser1454Lysfs frameshift NM_001407885.1:c.4359_4362delATCT NP_001394814.1:p.Ser1454Lysfs frameshift NM_001407886.1:c.4359_4362delATCT NP_001394815.1:p.Ser1454Lysfs frameshift NM_001407887.1:c.4359_4362delATCT NP_001394816.1:p.Ser1454Lysfs frameshift NM_001407889.1:c.4359_4362delATCT NP_001394818.1:p.Ser1454Lysfs frameshift NM_001407894.1:c.4356_4359delATCT NP_001394823.1:p.Ser1453Lysfs frameshift NM_001407895.1:c.4356_4359delATCT NP_001394824.1:p.Ser1453Lysfs frameshift NM_001407896.1:c.4356_4359delATCT NP_001394825.1:p.Ser1453Lysfs frameshift NM_001407897.1:c.4356_4359delATCT NP_001394826.1:p.Ser1453Lysfs frameshift NM_001407898.1:c.4356_4359delATCT NP_001394827.1:p.Ser1453Lysfs frameshift NM_001407899.1:c.4356_4359delATCT NP_001394828.1:p.Ser1453Lysfs frameshift NM_001407900.1:c.4356_4359delATCT NP_001394829.1:p.Ser1453Lysfs frameshift NM_001407902.1:c.4356_4359delATCT NP_001394831.1:p.Ser1453Lysfs frameshift NM_001407904.1:c.4356_4359delATCT NP_001394833.1:p.Ser1453Lysfs frameshift NM_001407906.1:c.4356_4359delATCT NP_001394835.1:p.Ser1453Lysfs frameshift NM_001407907.1:c.4356_4359delATCT NP_001394836.1:p.Ser1453Lysfs frameshift NM_001407908.1:c.4356_4359delATCT NP_001394837.1:p.Ser1453Lysfs frameshift NM_001407909.1:c.4356_4359delATCT NP_001394838.1:p.Ser1453Lysfs frameshift NM_001407910.1:c.4356_4359delATCT NP_001394839.1:p.Ser1453Lysfs frameshift NM_001407915.1:c.4353_4356delATCT NP_001394844.1:p.Ser1452Lysfs frameshift NM_001407916.1:c.4353_4356delATCT NP_001394845.1:p.Ser1452Lysfs frameshift NM_001407917.1:c.4353_4356delATCT NP_001394846.1:p.Ser1452Lysfs frameshift NM_001407918.1:c.4353_4356delATCT NP_001394847.1:p.Ser1452Lysfs frameshift NM_001407919.1:c.4446_4449delATCT NP_001394848.1:p.Ser1483Lysfs frameshift NM_001407920.1:c.4305_4308delATCT NP_001394849.1:p.Ser1436Lysfs frameshift NM_001407921.1:c.4305_4308delATCT NP_001394850.1:p.Ser1436Lysfs frameshift NM_001407922.1:c.4305_4308delATCT NP_001394851.1:p.Ser1436Lysfs frameshift NM_001407923.1:c.4305_4308delATCT NP_001394852.1:p.Ser1436Lysfs frameshift NM_001407924.1:c.4305_4308delATCT NP_001394853.1:p.Ser1436Lysfs frameshift NM_001407925.1:c.4305_4308delATCT NP_001394854.1:p.Ser1436Lysfs frameshift NM_001407926.1:c.4305_4308delATCT NP_001394855.1:p.Ser1436Lysfs frameshift NM_001407927.1:c.4302_4305delATCT NP_001394856.1:p.Ser1435Lysfs frameshift NM_001407928.1:c.4302_4305delATCT NP_001394857.1:p.Ser1435Lysfs frameshift NM_001407929.1:c.4302_4305delATCT NP_001394858.1:p.Ser1435Lysfs frameshift NM_001407930.1:c.4302_4305delATCT NP_001394859.1:p.Ser1435Lysfs frameshift NM_001407931.1:c.4302_4305delATCT NP_001394860.1:p.Ser1435Lysfs frameshift NM_001407932.1:c.4302_4305delATCT NP_001394861.1:p.Ser1435Lysfs frameshift NM_001407933.1:c.4302_4305delATCT NP_001394862.1:p.Ser1435Lysfs frameshift NM_001407934.1:c.4299_4302delATCT NP_001394863.1:p.Ser1434Lysfs frameshift NM_001407935.1:c.4299_4302delATCT NP_001394864.1:p.Ser1434Lysfs frameshift NM_001407936.1:c.4299_4302delATCT NP_001394865.1:p.Ser1434Lysfs frameshift NM_001407937.1:c.4446_4449delATCT NP_001394866.1:p.Ser1483Lysfs frameshift NM_001407938.1:c.4446_4449delATCT NP_001394867.1:p.Ser1483Lysfs frameshift NM_001407939.1:c.4443_4446delATCT NP_001394868.1:p.Ser1482Lysfs frameshift NM_001407940.1:c.4443_4446delATCT NP_001394869.1:p.Ser1482Lysfs frameshift NM_001407941.1:c.4440_4443delATCT NP_001394870.1:p.Ser1481Lysfs frameshift NM_001407942.1:c.4428_4431delATCT NP_001394871.1:p.Ser1477Lysfs frameshift NM_001407943.1:c.4425_4428delATCT NP_001394872.1:p.Ser1476Lysfs frameshift NM_001407944.1:c.4425_4428delATCT NP_001394873.1:p.Ser1476Lysfs frameshift NM_001407945.1:c.4425_4428delATCT NP_001394874.1:p.Ser1476Lysfs frameshift NM_001407946.1:c.4236_4239delATCT NP_001394875.1:p.Ser1413Lysfs frameshift NM_001407947.1:c.4236_4239delATCT NP_001394876.1:p.Ser1413Lysfs frameshift NM_001407948.1:c.4236_4239delATCT NP_001394877.1:p.Ser1413Lysfs frameshift NM_001407949.1:c.4236_4239delATCT NP_001394878.1:p.Ser1413Lysfs frameshift NM_001407950.1:c.4233_4236delATCT NP_001394879.1:p.Ser1412Lysfs frameshift NM_001407951.1:c.4233_4236delATCT NP_001394880.1:p.Ser1412Lysfs frameshift NM_001407952.1:c.4233_4236delATCT NP_001394881.1:p.Ser1412Lysfs frameshift NM_001407953.1:c.4233_4236delATCT NP_001394882.1:p.Ser1412Lysfs frameshift NM_001407954.1:c.4233_4236delATCT NP_001394883.1:p.Ser1412Lysfs frameshift NM_001407955.1:c.4233_4236delATCT NP_001394884.1:p.Ser1412Lysfs frameshift NM_001407956.1:c.4230_4233delATCT NP_001394885.1:p.Ser1411Lysfs frameshift NM_001407957.1:c.4230_4233delATCT NP_001394886.1:p.Ser1411Lysfs frameshift NM_001407958.1:c.4230_4233delATCT NP_001394887.1:p.Ser1411Lysfs frameshift NM_001407959.1:c.4188_4191delATCT NP_001394888.1:p.Ser1397Lysfs frameshift NM_001407960.1:c.4185_4188delATCT NP_001394889.1:p.Ser1396Lysfs frameshift NM_001407962.1:c.4185_4188delATCT NP_001394891.1:p.Ser1396Lysfs frameshift NM_001407963.1:c.4182_4185delATCT NP_001394892.1:p.Ser1395Lysfs frameshift NM_001407965.1:c.4062_4065delATCT NP_001394894.1:p.Ser1355Lysfs frameshift NM_001407966.1:c.3681_3684delATCT NP_001394895.1:p.Ser1228Lysfs frameshift NM_001407967.1:c.3678_3681delATCT NP_001394896.1:p.Ser1227Lysfs frameshift NM_001407968.1:c.1965_1968delATCT NP_001394897.1:p.Ser656Lysfs frameshift NM_001407969.1:c.1962_1965delATCT NP_001394898.1:p.Ser655Lysfs frameshift NM_001407970.1:c.1326_1329delATCT NP_001394899.1:p.Ser443Lysfs frameshift NM_001407971.1:c.1326_1329delATCT NP_001394900.1:p.Ser443Lysfs frameshift NM_001407972.1:c.1323_1326delATCT NP_001394901.1:p.Ser442Lysfs frameshift NM_001407973.1:c.1260_1263delATCT NP_001394902.1:p.Ser421Lysfs frameshift NM_001407974.1:c.1260_1263delATCT NP_001394903.1:p.Ser421Lysfs frameshift NM_001407975.1:c.1260_1263delATCT NP_001394904.1:p.Ser421Lysfs frameshift NM_001407976.1:c.1260_1263delATCT NP_001394905.1:p.Ser421Lysfs frameshift NM_001407977.1:c.1260_1263delATCT NP_001394906.1:p.Ser421Lysfs frameshift NM_001407978.1:c.1260_1263delATCT NP_001394907.1:p.Ser421Lysfs frameshift NM_001407979.1:c.1257_1260delATCT NP_001394908.1:p.Ser420Lysfs frameshift NM_001407980.1:c.1257_1260delATCT NP_001394909.1:p.Ser420Lysfs frameshift NM_001407981.1:c.1257_1260delATCT NP_001394910.1:p.Ser420Lysfs frameshift NM_001407982.1:c.1257_1260delATCT NP_001394911.1:p.Ser420Lysfs frameshift NM_001407983.1:c.1257_1260delATCT NP_001394912.1:p.Ser420Lysfs frameshift NM_001407984.1:c.1257_1260delATCT NP_001394913.1:p.Ser420Lysfs frameshift NM_001407985.1:c.1257_1260delATCT NP_001394914.1:p.Ser420Lysfs frameshift NM_001407986.1:c.1257_1260delATCT NP_001394915.1:p.Ser420Lysfs frameshift NM_001407990.1:c.1257_1260delATCT NP_001394919.1:p.Ser420Lysfs frameshift NM_001407991.1:c.1257_1260delATCT NP_001394920.1:p.Ser420Lysfs frameshift NM_001407992.1:c.1257_1260delATCT NP_001394921.1:p.Ser420Lysfs frameshift NM_001407993.1:c.1257_1260delATCT NP_001394922.1:p.Ser420Lysfs frameshift NM_001408392.1:c.1254_1257delATCT NP_001395321.1:p.Ser419Lysfs frameshift NM_001408396.1:c.1254_1257delATCT NP_001395325.1:p.Ser419Lysfs frameshift NM_001408397.1:c.1254_1257delATCT NP_001395326.1:p.Ser419Lysfs frameshift NM_001408398.1:c.1254_1257delATCT NP_001395327.1:p.Ser419Lysfs frameshift NM_001408399.1:c.1254_1257delATCT NP_001395328.1:p.Ser419Lysfs frameshift NM_001408400.1:c.1254_1257delATCT NP_001395329.1:p.Ser419Lysfs frameshift NM_001408401.1:c.1254_1257delATCT NP_001395330.1:p.Ser419Lysfs frameshift NM_001408402.1:c.1254_1257delATCT NP_001395331.1:p.Ser419Lysfs frameshift NM_001408403.1:c.1254_1257delATCT NP_001395332.1:p.Ser419Lysfs frameshift NM_001408404.1:c.1254_1257delATCT NP_001395333.1:p.Ser419Lysfs frameshift NM_001408406.1:c.1251_1254delATCT NP_001395335.1:p.Ser418Lysfs frameshift NM_001408407.1:c.1251_1254delATCT NP_001395336.1:p.Ser418Lysfs frameshift NM_001408408.1:c.1251_1254delATCT NP_001395337.1:p.Ser418Lysfs frameshift NM_001408409.1:c.1248_1251delATCT NP_001395338.1:p.Ser417Lysfs frameshift NM_001408410.1:c.1185_1188delATCT NP_001395339.1:p.Ser396Lysfs frameshift NM_001408411.1:c.1182_1185delATCT NP_001395340.1:p.Ser395Lysfs frameshift NM_001408412.1:c.1179_1182delATCT NP_001395341.1:p.Ser394Lysfs frameshift NM_001408413.1:c.1179_1182delATCT NP_001395342.1:p.Ser394Lysfs frameshift NM_001408414.1:c.1179_1182delATCT NP_001395343.1:p.Ser394Lysfs frameshift NM_001408415.1:c.1179_1182delATCT NP_001395344.1:p.Ser394Lysfs frameshift NM_001408416.1:c.1179_1182delATCT NP_001395345.1:p.Ser394Lysfs frameshift NM_001408418.1:c.1143_1146delATCT NP_001395347.1:p.Ser382Lysfs frameshift NM_001408419.1:c.1143_1146delATCT NP_001395348.1:p.Ser382Lysfs frameshift NM_001408420.1:c.1143_1146delATCT NP_001395349.1:p.Ser382Lysfs frameshift NM_001408421.1:c.1140_1143delATCT NP_001395350.1:p.Ser381Lysfs frameshift NM_001408422.1:c.1140_1143delATCT NP_001395351.1:p.Ser381Lysfs frameshift NM_001408423.1:c.1140_1143delATCT NP_001395352.1:p.Ser381Lysfs frameshift NM_001408424.1:c.1140_1143delATCT NP_001395353.1:p.Ser381Lysfs frameshift NM_001408425.1:c.1137_1140delATCT NP_001395354.1:p.Ser380Lysfs frameshift NM_001408426.1:c.1137_1140delATCT NP_001395355.1:p.Ser380Lysfs frameshift NM_001408427.1:c.1137_1140delATCT NP_001395356.1:p.Ser380Lysfs frameshift NM_001408428.1:c.1137_1140delATCT NP_001395357.1:p.Ser380Lysfs frameshift NM_001408429.1:c.1137_1140delATCT NP_001395358.1:p.Ser380Lysfs frameshift NM_001408430.1:c.1137_1140delATCT NP_001395359.1:p.Ser380Lysfs frameshift NM_001408431.1:c.1137_1140delATCT NP_001395360.1:p.Ser380Lysfs frameshift NM_001408432.1:c.1134_1137delATCT NP_001395361.1:p.Ser379Lysfs frameshift NM_001408433.1:c.1134_1137delATCT NP_001395362.1:p.Ser379Lysfs frameshift NM_001408434.1:c.1134_1137delATCT NP_001395363.1:p.Ser379Lysfs frameshift NM_001408435.1:c.1134_1137delATCT NP_001395364.1:p.Ser379Lysfs frameshift NM_001408436.1:c.1134_1137delATCT NP_001395365.1:p.Ser379Lysfs frameshift NM_001408437.1:c.1134_1137delATCT NP_001395366.1:p.Ser379Lysfs frameshift NM_001408438.1:c.1134_1137delATCT NP_001395367.1:p.Ser379Lysfs frameshift NM_001408439.1:c.1134_1137delATCT NP_001395368.1:p.Ser379Lysfs frameshift NM_001408440.1:c.1134_1137delATCT NP_001395369.1:p.Ser379Lysfs frameshift NM_001408441.1:c.1134_1137delATCT NP_001395370.1:p.Ser379Lysfs frameshift NM_001408442.1:c.1134_1137delATCT NP_001395371.1:p.Ser379Lysfs frameshift NM_001408443.1:c.1134_1137delATCT NP_001395372.1:p.Ser379Lysfs frameshift NM_001408444.1:c.1134_1137delATCT NP_001395373.1:p.Ser379Lysfs frameshift NM_001408445.1:c.1131_1134delATCT NP_001395374.1:p.Ser378Lysfs frameshift NM_001408446.1:c.1131_1134delATCT NP_001395375.1:p.Ser378Lysfs frameshift NM_001408447.1:c.1131_1134delATCT NP_001395376.1:p.Ser378Lysfs frameshift NM_001408448.1:c.1131_1134delATCT NP_001395377.1:p.Ser378Lysfs frameshift NM_001408450.1:c.1131_1134delATCT NP_001395379.1:p.Ser378Lysfs frameshift NM_001408451.1:c.1125_1128delATCT NP_001395380.1:p.Ser376Lysfs frameshift NM_001408452.1:c.1119_1122delATCT NP_001395381.1:p.Ser374Lysfs frameshift NM_001408453.1:c.1119_1122delATCT NP_001395382.1:p.Ser374Lysfs frameshift NM_001408454.1:c.1119_1122delATCT NP_001395383.1:p.Ser374Lysfs frameshift NM_001408455.1:c.1119_1122delATCT NP_001395384.1:p.Ser374Lysfs frameshift NM_001408456.1:c.1119_1122delATCT NP_001395385.1:p.Ser374Lysfs frameshift NM_001408457.1:c.1119_1122delATCT NP_001395386.1:p.Ser374Lysfs frameshift NM_001408458.1:c.1116_1119delATCT NP_001395387.1:p.Ser373Lysfs frameshift NM_001408459.1:c.1116_1119delATCT NP_001395388.1:p.Ser373Lysfs frameshift NM_001408460.1:c.1116_1119delATCT NP_001395389.1:p.Ser373Lysfs frameshift NM_001408461.1:c.1116_1119delATCT NP_001395390.1:p.Ser373Lysfs frameshift NM_001408462.1:c.1116_1119delATCT NP_001395391.1:p.Ser373Lysfs frameshift NM_001408463.1:c.1116_1119delATCT NP_001395392.1:p.Ser373Lysfs frameshift NM_001408464.1:c.1116_1119delATCT NP_001395393.1:p.Ser373Lysfs frameshift NM_001408465.1:c.1116_1119delATCT NP_001395394.1:p.Ser373Lysfs frameshift NM_001408466.1:c.1116_1119delATCT NP_001395395.1:p.Ser373Lysfs frameshift NM_001408467.1:c.1116_1119delATCT NP_001395396.1:p.Ser373Lysfs frameshift NM_001408468.1:c.1113_1116delATCT NP_001395397.1:p.Ser372Lysfs frameshift NM_001408469.1:c.1113_1116delATCT NP_001395398.1:p.Ser372Lysfs frameshift NM_001408470.1:c.1113_1116delATCT NP_001395399.1:p.Ser372Lysfs frameshift NM_001408472.1:c.1257_1260delATCT NP_001395401.1:p.Ser420Lysfs frameshift NM_001408473.1:c.1254_1257delATCT NP_001395402.1:p.Ser419Lysfs frameshift NM_001408474.1:c.1059_1062delATCT NP_001395403.1:p.Ser354Lysfs frameshift NM_001408475.1:c.1056_1059delATCT NP_001395404.1:p.Ser353Lysfs frameshift NM_001408476.1:c.1056_1059delATCT NP_001395405.1:p.Ser353Lysfs frameshift NM_001408478.1:c.1050_1053delATCT NP_001395407.1:p.Ser351Lysfs frameshift NM_001408479.1:c.1050_1053delATCT NP_001395408.1:p.Ser351Lysfs frameshift NM_001408480.1:c.1050_1053delATCT NP_001395409.1:p.Ser351Lysfs frameshift NM_001408481.1:c.1047_1050delATCT NP_001395410.1:p.Ser350Lysfs frameshift NM_001408482.1:c.1047_1050delATCT NP_001395411.1:p.Ser350Lysfs frameshift NM_001408483.1:c.1047_1050delATCT NP_001395412.1:p.Ser350Lysfs frameshift NM_001408484.1:c.1047_1050delATCT NP_001395413.1:p.Ser350Lysfs frameshift NM_001408485.1:c.1047_1050delATCT NP_001395414.1:p.Ser350Lysfs frameshift NM_001408489.1:c.1047_1050delATCT NP_001395418.1:p.Ser350Lysfs frameshift NM_001408490.1:c.1047_1050delATCT NP_001395419.1:p.Ser350Lysfs frameshift NM_001408491.1:c.1047_1050delATCT NP_001395420.1:p.Ser350Lysfs frameshift NM_001408492.1:c.1044_1047delATCT NP_001395421.1:p.Ser349Lysfs frameshift NM_001408493.1:c.1044_1047delATCT NP_001395422.1:p.Ser349Lysfs frameshift NM_001408494.1:c.1020_1023delATCT NP_001395423.1:p.Ser341Lysfs frameshift NM_001408495.1:c.1014_1017delATCT NP_001395424.1:p.Ser339Lysfs frameshift NM_001408496.1:c.996_999delATCT NP_001395425.1:p.Ser333Lysfs frameshift NM_001408497.1:c.996_999delATCT NP_001395426.1:p.Ser333Lysfs frameshift NM_001408498.1:c.996_999delATCT NP_001395427.1:p.Ser333Lysfs frameshift NM_001408499.1:c.996_999delATCT NP_001395428.1:p.Ser333Lysfs frameshift NM_001408500.1:c.996_999delATCT NP_001395429.1:p.Ser333Lysfs frameshift NM_001408501.1:c.996_999delATCT NP_001395430.1:p.Ser333Lysfs frameshift NM_001408502.1:c.993_996delATCT NP_001395431.1:p.Ser332Lysfs frameshift NM_001408503.1:c.993_996delATCT NP_001395432.1:p.Ser332Lysfs frameshift NM_001408504.1:c.993_996delATCT NP_001395433.1:p.Ser332Lysfs frameshift NM_001408505.1:c.990_993delATCT NP_001395434.1:p.Ser331Lysfs frameshift NM_001408506.1:c.933_936delATCT NP_001395435.1:p.Ser312Lysfs frameshift NM_001408507.1:c.930_933delATCT NP_001395436.1:p.Ser311Lysfs frameshift NM_001408508.1:c.921_924delATCT NP_001395437.1:p.Ser308Lysfs frameshift NM_001408509.1:c.918_921delATCT NP_001395438.1:p.Ser307Lysfs frameshift NM_001408510.1:c.879_882delATCT NP_001395439.1:p.Ser294Lysfs frameshift NM_001408511.1:c.876_879delATCT NP_001395440.1:p.Ser293Lysfs frameshift NM_001408512.1:c.756_759delATCT NP_001395441.1:p.Ser253Lysfs frameshift NM_007294.3:c.4569_4572delATCT NP_009225.1:p.Ser1524Lysfs frameshift NM_007297.4:c.4428_4431del NP_009228.2:p.Ser1477fs frameshift NM_007298.4:c.1257_1260delATCT NP_009229.2:p.Ser420Lysfs frameshift NM_007299.4:c.1257_1260del NP_009230.2:p.Ser420fs frameshift NM_007300.4:c.4632_4635del NP_009231.2:p.Ser1545fs frameshift NM_007304.2:c.1257_1260delATCT NP_009235.2:p.Ser420Lysfs frameshift NR_027676.2:n.4746_4749del non-coding transcript variant NC_000017.11:g.43074434_43074437del NC_000017.10:g.41226451_41226454del NG_005905.2:g.143547_143550del LRG_292:g.143547_143550del LRG_292t1:c.4569_4572del LRG_292p1:p.Ser1524fs - Protein change
- S1524fs, S420fs, S1477fs, S1545fs
- Other names
-
4688del4-ter1546
- Canonical SPDI
- NC_000017.11:43074433:AGAT:
-
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
|
Oct 18, 2016 | RCV000257612.6 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Oct 18, 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: SCV000323777.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325998.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
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 rs886040236 ...
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 Oct 08, 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.