Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4759_4760insA (p.Ser1587fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Dec 2017 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.4759_4760insA (p.Ser1587fs)
Variation ID: 548258 Accession: VCV000548258.2
- Type and length
-
Insertion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071154-43071155 (GRCh38) [ NCBI UCSC ] 17: 41223171-41223172 (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 Jul 13, 2018 Jul 13, 2018 Dec 15, 2017 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4759_4760insA MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1587fs frameshift NM_001407571.1:c.4546_4547insA NP_001394500.1:p.Ser1516Tyrfs frameshift NM_001407581.1:c.4825_4826insA NP_001394510.1:p.Ser1609Tyrfs frameshift NM_001407582.1:c.4825_4826insA NP_001394511.1:p.Ser1609Tyrfs frameshift NM_001407583.1:c.4822_4823insA NP_001394512.1:p.Ser1608Tyrfs frameshift NM_001407585.1:c.4822_4823insA NP_001394514.1:p.Ser1608Tyrfs frameshift NM_001407587.1:c.4822_4823insA NP_001394516.1:p.Ser1608Tyrfs frameshift NM_001407590.1:c.4819_4820insA NP_001394519.1:p.Ser1607Tyrfs frameshift NM_001407591.1:c.4819_4820insA NP_001394520.1:p.Ser1607Tyrfs frameshift NM_001407593.1:c.4759_4760insA NP_001394522.1:p.Ser1587Tyrfs frameshift NM_001407594.1:c.4759_4760insA NP_001394523.1:p.Ser1587Tyrfs frameshift NM_001407596.1:c.4759_4760insA NP_001394525.1:p.Ser1587Tyrfs frameshift NM_001407597.1:c.4759_4760insA NP_001394526.1:p.Ser1587Tyrfs frameshift NM_001407598.1:c.4759_4760insA NP_001394527.1:p.Ser1587Tyrfs frameshift NM_001407602.1:c.4759_4760insA NP_001394531.1:p.Ser1587Tyrfs frameshift NM_001407603.1:c.4759_4760insA NP_001394532.1:p.Ser1587Tyrfs frameshift NM_001407605.1:c.4759_4760insA NP_001394534.1:p.Ser1587Tyrfs frameshift NM_001407610.1:c.4756_4757insA NP_001394539.1:p.Ser1586Tyrfs frameshift NM_001407611.1:c.4756_4757insA NP_001394540.1:p.Ser1586Tyrfs frameshift NM_001407612.1:c.4756_4757insA NP_001394541.1:p.Ser1586Tyrfs frameshift NM_001407613.1:c.4756_4757insA NP_001394542.1:p.Ser1586Tyrfs frameshift NM_001407614.1:c.4756_4757insA NP_001394543.1:p.Ser1586Tyrfs frameshift NM_001407615.1:c.4756_4757insA NP_001394544.1:p.Ser1586Tyrfs frameshift NM_001407616.1:c.4756_4757insA NP_001394545.1:p.Ser1586Tyrfs frameshift NM_001407617.1:c.4756_4757insA NP_001394546.1:p.Ser1586Tyrfs frameshift NM_001407618.1:c.4756_4757insA NP_001394547.1:p.Ser1586Tyrfs frameshift NM_001407619.1:c.4756_4757insA NP_001394548.1:p.Ser1586Tyrfs frameshift NM_001407620.1:c.4756_4757insA NP_001394549.1:p.Ser1586Tyrfs frameshift NM_001407621.1:c.4756_4757insA NP_001394550.1:p.Ser1586Tyrfs frameshift NM_001407622.1:c.4756_4757insA NP_001394551.1:p.Ser1586Tyrfs frameshift NM_001407623.1:c.4756_4757insA NP_001394552.1:p.Ser1586Tyrfs frameshift NM_001407624.1:c.4756_4757insA NP_001394553.1:p.Ser1586Tyrfs frameshift NM_001407625.1:c.4756_4757insA NP_001394554.1:p.Ser1586Tyrfs frameshift NM_001407626.1:c.4756_4757insA NP_001394555.1:p.Ser1586Tyrfs frameshift NM_001407627.1:c.4753_4754insA NP_001394556.1:p.Ser1585Tyrfs frameshift NM_001407628.1:c.4753_4754insA NP_001394557.1:p.Ser1585Tyrfs frameshift NM_001407629.1:c.4753_4754insA NP_001394558.1:p.Ser1585Tyrfs frameshift NM_001407630.1:c.4753_4754insA NP_001394559.1:p.Ser1585Tyrfs frameshift NM_001407631.1:c.4753_4754insA NP_001394560.1:p.Ser1585Tyrfs frameshift NM_001407632.1:c.4753_4754insA NP_001394561.1:p.Ser1585Tyrfs frameshift NM_001407633.1:c.4753_4754insA NP_001394562.1:p.Ser1585Tyrfs frameshift NM_001407634.1:c.4753_4754insA NP_001394563.1:p.Ser1585Tyrfs frameshift NM_001407635.1:c.4753_4754insA NP_001394564.1:p.Ser1585Tyrfs frameshift NM_001407636.1:c.4753_4754insA NP_001394565.1:p.Ser1585Tyrfs frameshift NM_001407637.1:c.4753_4754insA NP_001394566.1:p.Ser1585Tyrfs frameshift NM_001407638.1:c.4753_4754insA NP_001394567.1:p.Ser1585Tyrfs frameshift NM_001407639.1:c.4753_4754insA NP_001394568.1:p.Ser1585Tyrfs frameshift NM_001407640.1:c.4753_4754insA NP_001394569.1:p.Ser1585Tyrfs frameshift NM_001407641.1:c.4753_4754insA NP_001394570.1:p.Ser1585Tyrfs frameshift NM_001407642.1:c.4753_4754insA NP_001394571.1:p.Ser1585Tyrfs frameshift NM_001407644.1:c.4750_4751insA NP_001394573.1:p.Ser1584Tyrfs frameshift NM_001407645.1:c.4750_4751insA NP_001394574.1:p.Ser1584Tyrfs frameshift NM_001407646.1:c.4747_4748insA NP_001394575.1:p.Ser1583Tyrfs frameshift NM_001407647.1:c.4744_4745insA NP_001394576.1:p.Ser1582Tyrfs frameshift NM_001407648.1:c.4702_4703insA NP_001394577.1:p.Ser1568Tyrfs frameshift NM_001407649.1:c.4699_4700insA NP_001394578.1:p.Ser1567Tyrfs frameshift NM_001407652.1:c.4759_4760insA NP_001394581.1:p.Ser1587Tyrfs frameshift NM_001407653.1:c.4681_4682insA NP_001394582.1:p.Ser1561Tyrfs frameshift NM_001407654.1:c.4681_4682insA NP_001394583.1:p.Ser1561Tyrfs frameshift NM_001407655.1:c.4681_4682insA NP_001394584.1:p.Ser1561Tyrfs frameshift NM_001407656.1:c.4678_4679insA NP_001394585.1:p.Ser1560Tyrfs frameshift NM_001407657.1:c.4678_4679insA NP_001394586.1:p.Ser1560Tyrfs frameshift NM_001407658.1:c.4678_4679insA NP_001394587.1:p.Ser1560Tyrfs frameshift NM_001407659.1:c.4675_4676insA NP_001394588.1:p.Ser1559Tyrfs frameshift NM_001407660.1:c.4675_4676insA NP_001394589.1:p.Ser1559Tyrfs frameshift NM_001407661.1:c.4675_4676insA NP_001394590.1:p.Ser1559Tyrfs frameshift NM_001407662.1:c.4675_4676insA NP_001394591.1:p.Ser1559Tyrfs frameshift NM_001407663.1:c.4675_4676insA NP_001394592.1:p.Ser1559Tyrfs frameshift NM_001407664.1:c.4636_4637insA NP_001394593.1:p.Ser1546Tyrfs frameshift NM_001407665.1:c.4636_4637insA NP_001394594.1:p.Ser1546Tyrfs frameshift NM_001407666.1:c.4636_4637insA NP_001394595.1:p.Ser1546Tyrfs frameshift NM_001407667.1:c.4636_4637insA NP_001394596.1:p.Ser1546Tyrfs frameshift NM_001407668.1:c.4636_4637insA NP_001394597.1:p.Ser1546Tyrfs frameshift NM_001407669.1:c.4636_4637insA NP_001394598.1:p.Ser1546Tyrfs frameshift NM_001407670.1:c.4633_4634insA NP_001394599.1:p.Ser1545Tyrfs frameshift NM_001407671.1:c.4633_4634insA NP_001394600.1:p.Ser1545Tyrfs frameshift NM_001407672.1:c.4633_4634insA NP_001394601.1:p.Ser1545Tyrfs frameshift NM_001407673.1:c.4633_4634insA NP_001394602.1:p.Ser1545Tyrfs frameshift NM_001407674.1:c.4633_4634insA NP_001394603.1:p.Ser1545Tyrfs frameshift NM_001407675.1:c.4633_4634insA NP_001394604.1:p.Ser1545Tyrfs frameshift NM_001407676.1:c.4633_4634insA NP_001394605.1:p.Ser1545Tyrfs frameshift NM_001407677.1:c.4633_4634insA NP_001394606.1:p.Ser1545Tyrfs frameshift NM_001407678.1:c.4633_4634insA NP_001394607.1:p.Ser1545Tyrfs frameshift NM_001407679.1:c.4633_4634insA NP_001394608.1:p.Ser1545Tyrfs frameshift NM_001407680.1:c.4633_4634insA NP_001394609.1:p.Ser1545Tyrfs frameshift NM_001407681.1:c.4630_4631insA NP_001394610.1:p.Ser1544Tyrfs frameshift NM_001407682.1:c.4630_4631insA NP_001394611.1:p.Ser1544Tyrfs frameshift NM_001407683.1:c.4630_4631insA NP_001394612.1:p.Ser1544Tyrfs frameshift NM_001407684.1:c.4759_4760insA NP_001394613.1:p.Ser1587Tyrfs frameshift NM_001407685.1:c.4630_4631insA NP_001394614.1:p.Ser1544Tyrfs frameshift NM_001407686.1:c.4630_4631insA NP_001394615.1:p.Ser1544Tyrfs frameshift NM_001407687.1:c.4630_4631insA NP_001394616.1:p.Ser1544Tyrfs frameshift NM_001407688.1:c.4630_4631insA NP_001394617.1:p.Ser1544Tyrfs frameshift NM_001407689.1:c.4630_4631insA NP_001394618.1:p.Ser1544Tyrfs frameshift NM_001407690.1:c.4627_4628insA NP_001394619.1:p.Ser1543Tyrfs frameshift NM_001407691.1:c.4627_4628insA NP_001394620.1:p.Ser1543Tyrfs frameshift NM_001407692.1:c.4618_4619insA NP_001394621.1:p.Ser1540Tyrfs frameshift NM_001407694.1:c.4618_4619insA NP_001394623.1:p.Ser1540Tyrfs frameshift NM_001407695.1:c.4618_4619insA NP_001394624.1:p.Ser1540Tyrfs frameshift NM_001407696.1:c.4618_4619insA NP_001394625.1:p.Ser1540Tyrfs frameshift NM_001407697.1:c.4618_4619insA NP_001394626.1:p.Ser1540Tyrfs frameshift NM_001407698.1:c.4618_4619insA NP_001394627.1:p.Ser1540Tyrfs frameshift NM_001407724.1:c.4618_4619insA NP_001394653.1:p.Ser1540Tyrfs frameshift NM_001407725.1:c.4618_4619insA NP_001394654.1:p.Ser1540Tyrfs frameshift NM_001407726.1:c.4618_4619insA NP_001394655.1:p.Ser1540Tyrfs frameshift NM_001407727.1:c.4618_4619insA NP_001394656.1:p.Ser1540Tyrfs frameshift NM_001407728.1:c.4618_4619insA NP_001394657.1:p.Ser1540Tyrfs frameshift NM_001407729.1:c.4618_4619insA NP_001394658.1:p.Ser1540Tyrfs frameshift NM_001407730.1:c.4618_4619insA NP_001394659.1:p.Ser1540Tyrfs frameshift NM_001407731.1:c.4618_4619insA NP_001394660.1:p.Ser1540Tyrfs frameshift NM_001407732.1:c.4615_4616insA NP_001394661.1:p.Ser1539Tyrfs frameshift NM_001407733.1:c.4615_4616insA NP_001394662.1:p.Ser1539Tyrfs frameshift NM_001407734.1:c.4615_4616insA NP_001394663.1:p.Ser1539Tyrfs frameshift NM_001407735.1:c.4615_4616insA NP_001394664.1:p.Ser1539Tyrfs frameshift NM_001407736.1:c.4615_4616insA NP_001394665.1:p.Ser1539Tyrfs frameshift NM_001407737.1:c.4615_4616insA NP_001394666.1:p.Ser1539Tyrfs frameshift NM_001407738.1:c.4615_4616insA NP_001394667.1:p.Ser1539Tyrfs frameshift NM_001407739.1:c.4615_4616insA NP_001394668.1:p.Ser1539Tyrfs frameshift NM_001407740.1:c.4615_4616insA NP_001394669.1:p.Ser1539Tyrfs frameshift NM_001407741.1:c.4615_4616insA NP_001394670.1:p.Ser1539Tyrfs frameshift NM_001407742.1:c.4615_4616insA NP_001394671.1:p.Ser1539Tyrfs frameshift NM_001407743.1:c.4615_4616insA NP_001394672.1:p.Ser1539Tyrfs frameshift NM_001407744.1:c.4615_4616insA NP_001394673.1:p.Ser1539Tyrfs frameshift NM_001407745.1:c.4615_4616insA NP_001394674.1:p.Ser1539Tyrfs frameshift NM_001407746.1:c.4615_4616insA NP_001394675.1:p.Ser1539Tyrfs frameshift NM_001407747.1:c.4615_4616insA NP_001394676.1:p.Ser1539Tyrfs frameshift NM_001407748.1:c.4615_4616insA NP_001394677.1:p.Ser1539Tyrfs frameshift NM_001407749.1:c.4615_4616insA NP_001394678.1:p.Ser1539Tyrfs frameshift NM_001407750.1:c.4615_4616insA NP_001394679.1:p.Ser1539Tyrfs frameshift NM_001407751.1:c.4615_4616insA NP_001394680.1:p.Ser1539Tyrfs frameshift NM_001407752.1:c.4615_4616insA NP_001394681.1:p.Ser1539Tyrfs frameshift NM_001407838.1:c.4612_4613insA NP_001394767.1:p.Ser1538Tyrfs frameshift NM_001407839.1:c.4612_4613insA NP_001394768.1:p.Ser1538Tyrfs frameshift NM_001407841.1:c.4612_4613insA NP_001394770.1:p.Ser1538Tyrfs frameshift NM_001407842.1:c.4612_4613insA NP_001394771.1:p.Ser1538Tyrfs frameshift NM_001407843.1:c.4612_4613insA NP_001394772.1:p.Ser1538Tyrfs frameshift NM_001407844.1:c.4612_4613insA NP_001394773.1:p.Ser1538Tyrfs frameshift NM_001407845.1:c.4612_4613insA NP_001394774.1:p.Ser1538Tyrfs frameshift NM_001407846.1:c.4612_4613insA NP_001394775.1:p.Ser1538Tyrfs frameshift NM_001407847.1:c.4612_4613insA NP_001394776.1:p.Ser1538Tyrfs frameshift NM_001407848.1:c.4612_4613insA NP_001394777.1:p.Ser1538Tyrfs frameshift NM_001407849.1:c.4612_4613insA NP_001394778.1:p.Ser1538Tyrfs frameshift NM_001407850.1:c.4612_4613insA NP_001394779.1:p.Ser1538Tyrfs frameshift NM_001407851.1:c.4612_4613insA NP_001394780.1:p.Ser1538Tyrfs frameshift NM_001407852.1:c.4612_4613insA NP_001394781.1:p.Ser1538Tyrfs frameshift NM_001407853.1:c.4612_4613insA NP_001394782.1:p.Ser1538Tyrfs frameshift NM_001407854.1:c.4759_4760insA NP_001394783.1:p.Ser1587Tyrfs frameshift NM_001407858.1:c.4756_4757insA NP_001394787.1:p.Ser1586Tyrfs frameshift NM_001407859.1:c.4756_4757insA NP_001394788.1:p.Ser1586Tyrfs frameshift NM_001407860.1:c.4756_4757insA NP_001394789.1:p.Ser1586Tyrfs frameshift NM_001407861.1:c.4753_4754insA NP_001394790.1:p.Ser1585Tyrfs frameshift NM_001407862.1:c.4558_4559insA NP_001394791.1:p.Ser1520Tyrfs frameshift NM_001407863.1:c.4633_4634insA NP_001394792.1:p.Ser1545Tyrfs frameshift NM_001407874.1:c.4552_4553insA NP_001394803.1:p.Ser1518Tyrfs frameshift NM_001407875.1:c.4552_4553insA NP_001394804.1:p.Ser1518Tyrfs frameshift NM_001407879.1:c.4549_4550insA NP_001394808.1:p.Ser1517Tyrfs frameshift NM_001407881.1:c.4549_4550insA NP_001394810.1:p.Ser1517Tyrfs frameshift NM_001407882.1:c.4549_4550insA NP_001394811.1:p.Ser1517Tyrfs frameshift NM_001407884.1:c.4549_4550insA NP_001394813.1:p.Ser1517Tyrfs frameshift NM_001407885.1:c.4549_4550insA NP_001394814.1:p.Ser1517Tyrfs frameshift NM_001407886.1:c.4549_4550insA NP_001394815.1:p.Ser1517Tyrfs frameshift NM_001407887.1:c.4549_4550insA NP_001394816.1:p.Ser1517Tyrfs frameshift NM_001407889.1:c.4549_4550insA NP_001394818.1:p.Ser1517Tyrfs frameshift NM_001407894.1:c.4546_4547insA NP_001394823.1:p.Ser1516Tyrfs frameshift NM_001407895.1:c.4546_4547insA NP_001394824.1:p.Ser1516Tyrfs frameshift NM_001407896.1:c.4546_4547insA NP_001394825.1:p.Ser1516Tyrfs frameshift NM_001407897.1:c.4546_4547insA NP_001394826.1:p.Ser1516Tyrfs frameshift NM_001407898.1:c.4546_4547insA NP_001394827.1:p.Ser1516Tyrfs frameshift NM_001407899.1:c.4546_4547insA NP_001394828.1:p.Ser1516Tyrfs frameshift NM_001407900.1:c.4546_4547insA NP_001394829.1:p.Ser1516Tyrfs frameshift NM_001407902.1:c.4546_4547insA NP_001394831.1:p.Ser1516Tyrfs frameshift NM_001407904.1:c.4546_4547insA NP_001394833.1:p.Ser1516Tyrfs frameshift NM_001407906.1:c.4546_4547insA NP_001394835.1:p.Ser1516Tyrfs frameshift NM_001407907.1:c.4546_4547insA NP_001394836.1:p.Ser1516Tyrfs frameshift NM_001407908.1:c.4546_4547insA NP_001394837.1:p.Ser1516Tyrfs frameshift NM_001407909.1:c.4546_4547insA NP_001394838.1:p.Ser1516Tyrfs frameshift NM_001407910.1:c.4546_4547insA NP_001394839.1:p.Ser1516Tyrfs frameshift NM_001407915.1:c.4543_4544insA NP_001394844.1:p.Ser1515Tyrfs frameshift NM_001407916.1:c.4543_4544insA NP_001394845.1:p.Ser1515Tyrfs frameshift NM_001407917.1:c.4543_4544insA NP_001394846.1:p.Ser1515Tyrfs frameshift NM_001407918.1:c.4543_4544insA NP_001394847.1:p.Ser1515Tyrfs frameshift NM_001407919.1:c.4636_4637insA NP_001394848.1:p.Ser1546Tyrfs frameshift NM_001407920.1:c.4495_4496insA NP_001394849.1:p.Ser1499Tyrfs frameshift NM_001407921.1:c.4495_4496insA NP_001394850.1:p.Ser1499Tyrfs frameshift NM_001407922.1:c.4495_4496insA NP_001394851.1:p.Ser1499Tyrfs frameshift NM_001407923.1:c.4495_4496insA NP_001394852.1:p.Ser1499Tyrfs frameshift NM_001407924.1:c.4495_4496insA NP_001394853.1:p.Ser1499Tyrfs frameshift NM_001407925.1:c.4495_4496insA NP_001394854.1:p.Ser1499Tyrfs frameshift NM_001407926.1:c.4495_4496insA NP_001394855.1:p.Ser1499Tyrfs frameshift NM_001407927.1:c.4492_4493insA NP_001394856.1:p.Ser1498Tyrfs frameshift NM_001407928.1:c.4492_4493insA NP_001394857.1:p.Ser1498Tyrfs frameshift NM_001407929.1:c.4492_4493insA NP_001394858.1:p.Ser1498Tyrfs frameshift NM_001407930.1:c.4492_4493insA NP_001394859.1:p.Ser1498Tyrfs frameshift NM_001407931.1:c.4492_4493insA NP_001394860.1:p.Ser1498Tyrfs frameshift NM_001407932.1:c.4492_4493insA NP_001394861.1:p.Ser1498Tyrfs frameshift NM_001407933.1:c.4492_4493insA NP_001394862.1:p.Ser1498Tyrfs frameshift NM_001407934.1:c.4489_4490insA NP_001394863.1:p.Ser1497Tyrfs frameshift NM_001407935.1:c.4489_4490insA NP_001394864.1:p.Ser1497Tyrfs frameshift NM_001407936.1:c.4489_4490insA NP_001394865.1:p.Ser1497Tyrfs frameshift NM_001407937.1:c.4636_4637insA NP_001394866.1:p.Ser1546Tyrfs frameshift NM_001407938.1:c.4636_4637insA NP_001394867.1:p.Ser1546Tyrfs frameshift NM_001407939.1:c.4633_4634insA NP_001394868.1:p.Ser1545Tyrfs frameshift NM_001407940.1:c.4633_4634insA NP_001394869.1:p.Ser1545Tyrfs frameshift NM_001407941.1:c.4630_4631insA NP_001394870.1:p.Ser1544Tyrfs frameshift NM_001407942.1:c.4618_4619insA NP_001394871.1:p.Ser1540Tyrfs frameshift NM_001407943.1:c.4615_4616insA NP_001394872.1:p.Ser1539Tyrfs frameshift NM_001407944.1:c.4615_4616insA NP_001394873.1:p.Ser1539Tyrfs frameshift NM_001407945.1:c.4615_4616insA NP_001394874.1:p.Ser1539Tyrfs frameshift NM_001407946.1:c.4426_4427insA NP_001394875.1:p.Ser1476Tyrfs frameshift NM_001407947.1:c.4426_4427insA NP_001394876.1:p.Ser1476Tyrfs frameshift NM_001407948.1:c.4426_4427insA NP_001394877.1:p.Ser1476Tyrfs frameshift NM_001407949.1:c.4426_4427insA NP_001394878.1:p.Ser1476Tyrfs frameshift NM_001407950.1:c.4423_4424insA NP_001394879.1:p.Ser1475Tyrfs frameshift NM_001407951.1:c.4423_4424insA NP_001394880.1:p.Ser1475Tyrfs frameshift NM_001407952.1:c.4423_4424insA NP_001394881.1:p.Ser1475Tyrfs frameshift NM_001407953.1:c.4423_4424insA NP_001394882.1:p.Ser1475Tyrfs frameshift NM_001407954.1:c.4423_4424insA NP_001394883.1:p.Ser1475Tyrfs frameshift NM_001407955.1:c.4423_4424insA NP_001394884.1:p.Ser1475Tyrfs frameshift NM_001407956.1:c.4420_4421insA NP_001394885.1:p.Ser1474Tyrfs frameshift NM_001407957.1:c.4420_4421insA NP_001394886.1:p.Ser1474Tyrfs frameshift NM_001407958.1:c.4420_4421insA NP_001394887.1:p.Ser1474Tyrfs frameshift NM_001407959.1:c.4378_4379insA NP_001394888.1:p.Ser1460Tyrfs frameshift NM_001407960.1:c.4375_4376insA NP_001394889.1:p.Ser1459Tyrfs frameshift NM_001407962.1:c.4375_4376insA NP_001394891.1:p.Ser1459Tyrfs frameshift NM_001407963.1:c.4372_4373insA NP_001394892.1:p.Ser1458Tyrfs frameshift NM_001407964.1:c.4297_4298insA NP_001394893.1:p.Ser1433Tyrfs frameshift NM_001407965.1:c.4252_4253insA NP_001394894.1:p.Ser1418Tyrfs frameshift NM_001407966.1:c.3871_3872insA NP_001394895.1:p.Ser1291Tyrfs frameshift NM_001407967.1:c.3868_3869insA NP_001394896.1:p.Ser1290Tyrfs frameshift NM_001407968.1:c.2155_2156insA NP_001394897.1:p.Ser719Tyrfs frameshift NM_001407969.1:c.2152_2153insA NP_001394898.1:p.Ser718Tyrfs frameshift NM_001407970.1:c.1516_1517insA NP_001394899.1:p.Ser506Tyrfs frameshift NM_001407971.1:c.1516_1517insA NP_001394900.1:p.Ser506Tyrfs frameshift NM_001407972.1:c.1513_1514insA NP_001394901.1:p.Ser505Tyrfs frameshift NM_001407973.1:c.1450_1451insA NP_001394902.1:p.Ser484Tyrfs frameshift NM_001407974.1:c.1450_1451insA NP_001394903.1:p.Ser484Tyrfs frameshift NM_001407975.1:c.1450_1451insA NP_001394904.1:p.Ser484Tyrfs frameshift NM_001407976.1:c.1450_1451insA NP_001394905.1:p.Ser484Tyrfs frameshift NM_001407977.1:c.1450_1451insA NP_001394906.1:p.Ser484Tyrfs frameshift NM_001407978.1:c.1450_1451insA NP_001394907.1:p.Ser484Tyrfs frameshift NM_001407979.1:c.1447_1448insA NP_001394908.1:p.Ser483Tyrfs frameshift NM_001407980.1:c.1447_1448insA NP_001394909.1:p.Ser483Tyrfs frameshift NM_001407981.1:c.1447_1448insA NP_001394910.1:p.Ser483Tyrfs frameshift NM_001407982.1:c.1447_1448insA NP_001394911.1:p.Ser483Tyrfs frameshift NM_001407983.1:c.1447_1448insA NP_001394912.1:p.Ser483Tyrfs frameshift NM_001407984.1:c.1447_1448insA NP_001394913.1:p.Ser483Tyrfs frameshift NM_001407985.1:c.1447_1448insA NP_001394914.1:p.Ser483Tyrfs frameshift NM_001407986.1:c.1447_1448insA NP_001394915.1:p.Ser483Tyrfs frameshift NM_001407990.1:c.1447_1448insA NP_001394919.1:p.Ser483Tyrfs frameshift NM_001407991.1:c.1447_1448insA NP_001394920.1:p.Ser483Tyrfs frameshift NM_001407992.1:c.1447_1448insA NP_001394921.1:p.Ser483Tyrfs frameshift NM_001407993.1:c.1447_1448insA NP_001394922.1:p.Ser483Tyrfs frameshift NM_001408392.1:c.1444_1445insA NP_001395321.1:p.Ser482Tyrfs frameshift NM_001408396.1:c.1444_1445insA NP_001395325.1:p.Ser482Tyrfs frameshift NM_001408397.1:c.1444_1445insA NP_001395326.1:p.Ser482Tyrfs frameshift NM_001408398.1:c.1444_1445insA NP_001395327.1:p.Ser482Tyrfs frameshift NM_001408399.1:c.1444_1445insA NP_001395328.1:p.Ser482Tyrfs frameshift NM_001408400.1:c.1444_1445insA NP_001395329.1:p.Ser482Tyrfs frameshift NM_001408401.1:c.1444_1445insA NP_001395330.1:p.Ser482Tyrfs frameshift NM_001408402.1:c.1444_1445insA NP_001395331.1:p.Ser482Tyrfs frameshift NM_001408403.1:c.1444_1445insA NP_001395332.1:p.Ser482Tyrfs frameshift NM_001408404.1:c.1444_1445insA NP_001395333.1:p.Ser482Tyrfs frameshift NM_001408406.1:c.1441_1442insA NP_001395335.1:p.Ser481Tyrfs frameshift NM_001408407.1:c.1441_1442insA NP_001395336.1:p.Ser481Tyrfs frameshift NM_001408408.1:c.1441_1442insA NP_001395337.1:p.Ser481Tyrfs frameshift NM_001408409.1:c.1438_1439insA NP_001395338.1:p.Ser480Tyrfs frameshift NM_001408410.1:c.1375_1376insA NP_001395339.1:p.Ser459Tyrfs frameshift NM_001408411.1:c.1372_1373insA NP_001395340.1:p.Ser458Tyrfs frameshift NM_001408412.1:c.1369_1370insA NP_001395341.1:p.Ser457Tyrfs frameshift NM_001408413.1:c.1369_1370insA NP_001395342.1:p.Ser457Tyrfs frameshift NM_001408414.1:c.1369_1370insA NP_001395343.1:p.Ser457Tyrfs frameshift NM_001408415.1:c.1369_1370insA NP_001395344.1:p.Ser457Tyrfs frameshift NM_001408416.1:c.1369_1370insA NP_001395345.1:p.Ser457Tyrfs frameshift NM_001408418.1:c.1333_1334insA NP_001395347.1:p.Ser445Tyrfs frameshift NM_001408419.1:c.1333_1334insA NP_001395348.1:p.Ser445Tyrfs frameshift NM_001408420.1:c.1333_1334insA NP_001395349.1:p.Ser445Tyrfs frameshift NM_001408421.1:c.1330_1331insA NP_001395350.1:p.Ser444Tyrfs frameshift NM_001408422.1:c.1330_1331insA NP_001395351.1:p.Ser444Tyrfs frameshift NM_001408423.1:c.1330_1331insA NP_001395352.1:p.Ser444Tyrfs frameshift NM_001408424.1:c.1330_1331insA NP_001395353.1:p.Ser444Tyrfs frameshift NM_001408425.1:c.1327_1328insA NP_001395354.1:p.Ser443Tyrfs frameshift NM_001408426.1:c.1327_1328insA NP_001395355.1:p.Ser443Tyrfs frameshift NM_001408427.1:c.1327_1328insA NP_001395356.1:p.Ser443Tyrfs frameshift NM_001408428.1:c.1327_1328insA NP_001395357.1:p.Ser443Tyrfs frameshift NM_001408429.1:c.1327_1328insA NP_001395358.1:p.Ser443Tyrfs frameshift NM_001408430.1:c.1327_1328insA NP_001395359.1:p.Ser443Tyrfs frameshift NM_001408431.1:c.1327_1328insA NP_001395360.1:p.Ser443Tyrfs frameshift NM_001408432.1:c.1324_1325insA NP_001395361.1:p.Ser442Tyrfs frameshift NM_001408433.1:c.1324_1325insA NP_001395362.1:p.Ser442Tyrfs frameshift NM_001408434.1:c.1324_1325insA NP_001395363.1:p.Ser442Tyrfs frameshift NM_001408435.1:c.1324_1325insA NP_001395364.1:p.Ser442Tyrfs frameshift NM_001408436.1:c.1324_1325insA NP_001395365.1:p.Ser442Tyrfs frameshift NM_001408437.1:c.1324_1325insA NP_001395366.1:p.Ser442Tyrfs frameshift NM_001408438.1:c.1324_1325insA NP_001395367.1:p.Ser442Tyrfs frameshift NM_001408439.1:c.1324_1325insA NP_001395368.1:p.Ser442Tyrfs frameshift NM_001408440.1:c.1324_1325insA NP_001395369.1:p.Ser442Tyrfs frameshift NM_001408441.1:c.1324_1325insA NP_001395370.1:p.Ser442Tyrfs frameshift NM_001408442.1:c.1324_1325insA NP_001395371.1:p.Ser442Tyrfs frameshift NM_001408443.1:c.1324_1325insA NP_001395372.1:p.Ser442Tyrfs frameshift NM_001408444.1:c.1324_1325insA NP_001395373.1:p.Ser442Tyrfs frameshift NM_001408445.1:c.1321_1322insA NP_001395374.1:p.Ser441Tyrfs frameshift NM_001408446.1:c.1321_1322insA NP_001395375.1:p.Ser441Tyrfs frameshift NM_001408447.1:c.1321_1322insA NP_001395376.1:p.Ser441Tyrfs frameshift NM_001408448.1:c.1321_1322insA NP_001395377.1:p.Ser441Tyrfs frameshift NM_001408450.1:c.1321_1322insA NP_001395379.1:p.Ser441Tyrfs frameshift NM_001408451.1:c.1315_1316insA NP_001395380.1:p.Ser439Tyrfs frameshift NM_001408452.1:c.1309_1310insA NP_001395381.1:p.Ser437Tyrfs frameshift NM_001408453.1:c.1309_1310insA NP_001395382.1:p.Ser437Tyrfs frameshift NM_001408454.1:c.1309_1310insA NP_001395383.1:p.Ser437Tyrfs frameshift NM_001408455.1:c.1309_1310insA NP_001395384.1:p.Ser437Tyrfs frameshift NM_001408456.1:c.1309_1310insA NP_001395385.1:p.Ser437Tyrfs frameshift NM_001408457.1:c.1309_1310insA NP_001395386.1:p.Ser437Tyrfs frameshift NM_001408458.1:c.1306_1307insA NP_001395387.1:p.Ser436Tyrfs frameshift NM_001408459.1:c.1306_1307insA NP_001395388.1:p.Ser436Tyrfs frameshift NM_001408460.1:c.1306_1307insA NP_001395389.1:p.Ser436Tyrfs frameshift NM_001408461.1:c.1306_1307insA NP_001395390.1:p.Ser436Tyrfs frameshift NM_001408462.1:c.1306_1307insA NP_001395391.1:p.Ser436Tyrfs frameshift NM_001408463.1:c.1306_1307insA NP_001395392.1:p.Ser436Tyrfs frameshift NM_001408464.1:c.1306_1307insA NP_001395393.1:p.Ser436Tyrfs frameshift NM_001408465.1:c.1306_1307insA NP_001395394.1:p.Ser436Tyrfs frameshift NM_001408466.1:c.1306_1307insA NP_001395395.1:p.Ser436Tyrfs frameshift NM_001408467.1:c.1306_1307insA NP_001395396.1:p.Ser436Tyrfs frameshift NM_001408468.1:c.1303_1304insA NP_001395397.1:p.Ser435Tyrfs frameshift NM_001408469.1:c.1303_1304insA NP_001395398.1:p.Ser435Tyrfs frameshift NM_001408470.1:c.1303_1304insA NP_001395399.1:p.Ser435Tyrfs frameshift NM_001408472.1:c.1447_1448insA NP_001395401.1:p.Ser483Tyrfs frameshift NM_001408473.1:c.1444_1445insA NP_001395402.1:p.Ser482Tyrfs frameshift NM_001408474.1:c.1249_1250insA NP_001395403.1:p.Ser417Tyrfs frameshift NM_001408475.1:c.1246_1247insA NP_001395404.1:p.Ser416Tyrfs frameshift NM_001408476.1:c.1246_1247insA NP_001395405.1:p.Ser416Tyrfs frameshift NM_001408478.1:c.1240_1241insA NP_001395407.1:p.Ser414Tyrfs frameshift NM_001408479.1:c.1240_1241insA NP_001395408.1:p.Ser414Tyrfs frameshift NM_001408480.1:c.1240_1241insA NP_001395409.1:p.Ser414Tyrfs frameshift NM_001408481.1:c.1237_1238insA NP_001395410.1:p.Ser413Tyrfs frameshift NM_001408482.1:c.1237_1238insA NP_001395411.1:p.Ser413Tyrfs frameshift NM_001408483.1:c.1237_1238insA NP_001395412.1:p.Ser413Tyrfs frameshift NM_001408484.1:c.1237_1238insA NP_001395413.1:p.Ser413Tyrfs frameshift NM_001408485.1:c.1237_1238insA NP_001395414.1:p.Ser413Tyrfs frameshift NM_001408489.1:c.1237_1238insA NP_001395418.1:p.Ser413Tyrfs frameshift NM_001408490.1:c.1237_1238insA NP_001395419.1:p.Ser413Tyrfs frameshift NM_001408491.1:c.1237_1238insA NP_001395420.1:p.Ser413Tyrfs frameshift NM_001408492.1:c.1234_1235insA NP_001395421.1:p.Ser412Tyrfs frameshift NM_001408493.1:c.1234_1235insA NP_001395422.1:p.Ser412Tyrfs frameshift NM_001408494.1:c.1210_1211insA NP_001395423.1:p.Ser404Tyrfs frameshift NM_001408495.1:c.1204_1205insA NP_001395424.1:p.Ser402Tyrfs frameshift NM_001408496.1:c.1186_1187insA NP_001395425.1:p.Ser396Tyrfs frameshift NM_001408497.1:c.1186_1187insA NP_001395426.1:p.Ser396Tyrfs frameshift NM_001408498.1:c.1186_1187insA NP_001395427.1:p.Ser396Tyrfs frameshift NM_001408499.1:c.1186_1187insA NP_001395428.1:p.Ser396Tyrfs frameshift NM_001408500.1:c.1186_1187insA NP_001395429.1:p.Ser396Tyrfs frameshift NM_001408501.1:c.1186_1187insA NP_001395430.1:p.Ser396Tyrfs frameshift NM_001408502.1:c.1183_1184insA NP_001395431.1:p.Ser395Tyrfs frameshift NM_001408503.1:c.1183_1184insA NP_001395432.1:p.Ser395Tyrfs frameshift NM_001408504.1:c.1183_1184insA NP_001395433.1:p.Ser395Tyrfs frameshift NM_001408505.1:c.1180_1181insA NP_001395434.1:p.Ser394Tyrfs frameshift NM_001408506.1:c.1123_1124insA NP_001395435.1:p.Ser375Tyrfs frameshift NM_001408507.1:c.1120_1121insA NP_001395436.1:p.Ser374Tyrfs frameshift NM_001408508.1:c.1111_1112insA NP_001395437.1:p.Ser371Tyrfs frameshift NM_001408509.1:c.1108_1109insA NP_001395438.1:p.Ser370Tyrfs frameshift NM_001408510.1:c.1069_1070insA NP_001395439.1:p.Ser357Tyrfs frameshift NM_001408511.1:c.1066_1067insA NP_001395440.1:p.Ser356Tyrfs frameshift NM_001408512.1:c.946_947insA NP_001395441.1:p.Ser316Tyrfs frameshift NM_001408513.1:c.919_920insA NP_001395442.1:p.Ser307Tyrfs frameshift NM_007297.4:c.4618_4619insA NP_009228.2:p.Ser1540fs frameshift NM_007298.4:c.1447_1448insA NP_009229.2:p.Ser483Tyrfs frameshift NM_007299.4:c.1447_1448insA NP_009230.2:p.Ser483fs frameshift NM_007300.4:c.4822_4823insA NP_009231.2:p.Ser1608fs frameshift NM_007304.2:c.1447_1448insA NP_009235.2:p.Ser483Tyrfs frameshift NR_027676.2:n.4936_4937insA non-coding transcript variant NC_000017.11:g.43071154_43071155insT NC_000017.10:g.41223171_41223172insT NG_005905.2:g.146829_146830insA LRG_292:g.146829_146830insA LRG_292t1:c.4759_4760insA LRG_292p1:p.Ser1587Tyrfs - Protein change
- S1540fs, S1608fs, S483fs, S1587fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071154::T
-
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 (1) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661194.2 |
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
(Dec 15, 2017)
|
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)
Study: ENIGMA
Accession: SCV000783449.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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 rs1555580980 ...
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.