For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 661222). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile1568Glufs*34) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4699_4700dup (p.Ile1568fs)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(2)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
2
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4699_4700dup (p.Ile1568fs)
Variation ID: 661222 Accession: VCV000661222.10
- Type and length
-
Duplication, 2 bp
- Location
-
Cytogenetic: 17q21.31 17: 43071213-43071214 (GRCh38) [ NCBI UCSC ] 17: 41223230-41223231 (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 Aug 14, 2019 May 1, 2024 Dec 7, 2021 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4699_4700dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile1568fs frameshift NM_001407571.1:c.4486_4487dup NP_001394500.1:p.Ile1497Glufs frameshift NM_001407581.1:c.4765_4766dup NP_001394510.1:p.Ile1590Glufs frameshift NM_001407582.1:c.4765_4766dup NP_001394511.1:p.Ile1590Glufs frameshift NM_001407583.1:c.4762_4763dup NP_001394512.1:p.Ile1589Glufs frameshift NM_001407585.1:c.4762_4763dup NP_001394514.1:p.Ile1589Glufs frameshift NM_001407587.1:c.4762_4763dup NP_001394516.1:p.Ile1589Glufs frameshift NM_001407590.1:c.4759_4760dup NP_001394519.1:p.Ile1588Glufs frameshift NM_001407591.1:c.4759_4760dup NP_001394520.1:p.Ile1588Glufs frameshift NM_001407593.1:c.4699_4700dup NP_001394522.1:p.Ile1568Glufs frameshift NM_001407594.1:c.4699_4700dup NP_001394523.1:p.Ile1568Glufs frameshift NM_001407596.1:c.4699_4700dup NP_001394525.1:p.Ile1568Glufs frameshift NM_001407597.1:c.4699_4700dup NP_001394526.1:p.Ile1568Glufs frameshift NM_001407598.1:c.4699_4700dup NP_001394527.1:p.Ile1568Glufs frameshift NM_001407602.1:c.4699_4700dup NP_001394531.1:p.Ile1568Glufs frameshift NM_001407603.1:c.4699_4700dup NP_001394532.1:p.Ile1568Glufs frameshift NM_001407605.1:c.4699_4700dup NP_001394534.1:p.Ile1568Glufs frameshift NM_001407610.1:c.4696_4697dup NP_001394539.1:p.Ile1567Glufs frameshift NM_001407611.1:c.4696_4697dup NP_001394540.1:p.Ile1567Glufs frameshift NM_001407612.1:c.4696_4697dup NP_001394541.1:p.Ile1567Glufs frameshift NM_001407613.1:c.4696_4697dup NP_001394542.1:p.Ile1567Glufs frameshift NM_001407614.1:c.4696_4697dup NP_001394543.1:p.Ile1567Glufs frameshift NM_001407615.1:c.4696_4697dup NP_001394544.1:p.Ile1567Glufs frameshift NM_001407616.1:c.4696_4697dup NP_001394545.1:p.Ile1567Glufs frameshift NM_001407617.1:c.4696_4697dup NP_001394546.1:p.Ile1567Glufs frameshift NM_001407618.1:c.4696_4697dup NP_001394547.1:p.Ile1567Glufs frameshift NM_001407619.1:c.4696_4697dup NP_001394548.1:p.Ile1567Glufs frameshift NM_001407620.1:c.4696_4697dup NP_001394549.1:p.Ile1567Glufs frameshift NM_001407621.1:c.4696_4697dup NP_001394550.1:p.Ile1567Glufs frameshift NM_001407622.1:c.4696_4697dup NP_001394551.1:p.Ile1567Glufs frameshift NM_001407623.1:c.4696_4697dup NP_001394552.1:p.Ile1567Glufs frameshift NM_001407624.1:c.4696_4697dup NP_001394553.1:p.Ile1567Glufs frameshift NM_001407625.1:c.4696_4697dup NP_001394554.1:p.Ile1567Glufs frameshift NM_001407626.1:c.4696_4697dup NP_001394555.1:p.Ile1567Glufs frameshift NM_001407627.1:c.4693_4694dup NP_001394556.1:p.Ile1566Glufs frameshift NM_001407628.1:c.4693_4694dup NP_001394557.1:p.Ile1566Glufs frameshift NM_001407629.1:c.4693_4694dup NP_001394558.1:p.Ile1566Glufs frameshift NM_001407630.1:c.4693_4694dup NP_001394559.1:p.Ile1566Glufs frameshift NM_001407631.1:c.4693_4694dup NP_001394560.1:p.Ile1566Glufs frameshift NM_001407632.1:c.4693_4694dup NP_001394561.1:p.Ile1566Glufs frameshift NM_001407633.1:c.4693_4694dup NP_001394562.1:p.Ile1566Glufs frameshift NM_001407634.1:c.4693_4694dup NP_001394563.1:p.Ile1566Glufs frameshift NM_001407635.1:c.4693_4694dup NP_001394564.1:p.Ile1566Glufs frameshift NM_001407636.1:c.4693_4694dup NP_001394565.1:p.Ile1566Glufs frameshift NM_001407637.1:c.4693_4694dup NP_001394566.1:p.Ile1566Glufs frameshift NM_001407638.1:c.4693_4694dup NP_001394567.1:p.Ile1566Glufs frameshift NM_001407639.1:c.4693_4694dup NP_001394568.1:p.Ile1566Glufs frameshift NM_001407640.1:c.4693_4694dup NP_001394569.1:p.Ile1566Glufs frameshift NM_001407641.1:c.4693_4694dup NP_001394570.1:p.Ile1566Glufs frameshift NM_001407642.1:c.4693_4694dup NP_001394571.1:p.Ile1566Glufs frameshift NM_001407644.1:c.4690_4691dup NP_001394573.1:p.Ile1565Glufs frameshift NM_001407645.1:c.4690_4691dup NP_001394574.1:p.Ile1565Glufs frameshift NM_001407646.1:c.4687_4688dup NP_001394575.1:p.Ile1564Glufs frameshift NM_001407647.1:c.4684_4685dup NP_001394576.1:p.Ile1563Glufs frameshift NM_001407648.1:c.4642_4643dup NP_001394577.1:p.Ile1549Glufs frameshift NM_001407649.1:c.4639_4640dup NP_001394578.1:p.Ile1548Glufs frameshift NM_001407652.1:c.4699_4700dup NP_001394581.1:p.Ile1568Glufs frameshift NM_001407653.1:c.4621_4622dup NP_001394582.1:p.Ile1542Glufs frameshift NM_001407654.1:c.4621_4622dup NP_001394583.1:p.Ile1542Glufs frameshift NM_001407655.1:c.4621_4622dup NP_001394584.1:p.Ile1542Glufs frameshift NM_001407656.1:c.4618_4619dup NP_001394585.1:p.Ile1541Glufs frameshift NM_001407657.1:c.4618_4619dup NP_001394586.1:p.Ile1541Glufs frameshift NM_001407658.1:c.4618_4619dup NP_001394587.1:p.Ile1541Glufs frameshift NM_001407659.1:c.4615_4616dup NP_001394588.1:p.Ile1540Glufs frameshift NM_001407660.1:c.4615_4616dup NP_001394589.1:p.Ile1540Glufs frameshift NM_001407661.1:c.4615_4616dup NP_001394590.1:p.Ile1540Glufs frameshift NM_001407662.1:c.4615_4616dup NP_001394591.1:p.Ile1540Glufs frameshift NM_001407663.1:c.4615_4616dup NP_001394592.1:p.Ile1540Glufs frameshift NM_001407664.1:c.4576_4577dup NP_001394593.1:p.Ile1527Glufs frameshift NM_001407665.1:c.4576_4577dup NP_001394594.1:p.Ile1527Glufs frameshift NM_001407666.1:c.4576_4577dup NP_001394595.1:p.Ile1527Glufs frameshift NM_001407667.1:c.4576_4577dup NP_001394596.1:p.Ile1527Glufs frameshift NM_001407668.1:c.4576_4577dup NP_001394597.1:p.Ile1527Glufs frameshift NM_001407669.1:c.4576_4577dup NP_001394598.1:p.Ile1527Glufs frameshift NM_001407670.1:c.4573_4574dup NP_001394599.1:p.Ile1526Glufs frameshift NM_001407671.1:c.4573_4574dup NP_001394600.1:p.Ile1526Glufs frameshift NM_001407672.1:c.4573_4574dup NP_001394601.1:p.Ile1526Glufs frameshift NM_001407673.1:c.4573_4574dup NP_001394602.1:p.Ile1526Glufs frameshift NM_001407674.1:c.4573_4574dup NP_001394603.1:p.Ile1526Glufs frameshift NM_001407675.1:c.4573_4574dup NP_001394604.1:p.Ile1526Glufs frameshift NM_001407676.1:c.4573_4574dup NP_001394605.1:p.Ile1526Glufs frameshift NM_001407677.1:c.4573_4574dup NP_001394606.1:p.Ile1526Glufs frameshift NM_001407678.1:c.4573_4574dup NP_001394607.1:p.Ile1526Glufs frameshift NM_001407679.1:c.4573_4574dup NP_001394608.1:p.Ile1526Glufs frameshift NM_001407680.1:c.4573_4574dup NP_001394609.1:p.Ile1526Glufs frameshift NM_001407681.1:c.4570_4571dup NP_001394610.1:p.Ile1525Glufs frameshift NM_001407682.1:c.4570_4571dup NP_001394611.1:p.Ile1525Glufs frameshift NM_001407683.1:c.4570_4571dup NP_001394612.1:p.Ile1525Glufs frameshift NM_001407684.1:c.4699_4700dup NP_001394613.1:p.Ile1568Glufs frameshift NM_001407685.1:c.4570_4571dup NP_001394614.1:p.Ile1525Glufs frameshift NM_001407686.1:c.4570_4571dup NP_001394615.1:p.Ile1525Glufs frameshift NM_001407687.1:c.4570_4571dup NP_001394616.1:p.Ile1525Glufs frameshift NM_001407688.1:c.4570_4571dup NP_001394617.1:p.Ile1525Glufs frameshift NM_001407689.1:c.4570_4571dup NP_001394618.1:p.Ile1525Glufs frameshift NM_001407690.1:c.4567_4568dup NP_001394619.1:p.Ile1524Glufs frameshift NM_001407691.1:c.4567_4568dup NP_001394620.1:p.Ile1524Glufs frameshift NM_001407692.1:c.4558_4559dup NP_001394621.1:p.Ile1521Glufs frameshift NM_001407694.1:c.4558_4559dup NP_001394623.1:p.Ile1521Glufs frameshift NM_001407695.1:c.4558_4559dup NP_001394624.1:p.Ile1521Glufs frameshift NM_001407696.1:c.4558_4559dup NP_001394625.1:p.Ile1521Glufs frameshift NM_001407697.1:c.4558_4559dup NP_001394626.1:p.Ile1521Glufs frameshift NM_001407698.1:c.4558_4559dup NP_001394627.1:p.Ile1521Glufs frameshift NM_001407724.1:c.4558_4559dup NP_001394653.1:p.Ile1521Glufs frameshift NM_001407725.1:c.4558_4559dup NP_001394654.1:p.Ile1521Glufs frameshift NM_001407726.1:c.4558_4559dup NP_001394655.1:p.Ile1521Glufs frameshift NM_001407727.1:c.4558_4559dup NP_001394656.1:p.Ile1521Glufs frameshift NM_001407728.1:c.4558_4559dup NP_001394657.1:p.Ile1521Glufs frameshift NM_001407729.1:c.4558_4559dup NP_001394658.1:p.Ile1521Glufs frameshift NM_001407730.1:c.4558_4559dup NP_001394659.1:p.Ile1521Glufs frameshift NM_001407731.1:c.4558_4559dup NP_001394660.1:p.Ile1521Glufs frameshift NM_001407732.1:c.4555_4556dup NP_001394661.1:p.Ile1520Glufs frameshift NM_001407733.1:c.4555_4556dup NP_001394662.1:p.Ile1520Glufs frameshift NM_001407734.1:c.4555_4556dup NP_001394663.1:p.Ile1520Glufs frameshift NM_001407735.1:c.4555_4556dup NP_001394664.1:p.Ile1520Glufs frameshift NM_001407736.1:c.4555_4556dup NP_001394665.1:p.Ile1520Glufs frameshift NM_001407737.1:c.4555_4556dup NP_001394666.1:p.Ile1520Glufs frameshift NM_001407738.1:c.4555_4556dup NP_001394667.1:p.Ile1520Glufs frameshift NM_001407739.1:c.4555_4556dup NP_001394668.1:p.Ile1520Glufs frameshift NM_001407740.1:c.4555_4556dup NP_001394669.1:p.Ile1520Glufs frameshift NM_001407741.1:c.4555_4556dup NP_001394670.1:p.Ile1520Glufs frameshift NM_001407742.1:c.4555_4556dup NP_001394671.1:p.Ile1520Glufs frameshift NM_001407743.1:c.4555_4556dup NP_001394672.1:p.Ile1520Glufs frameshift NM_001407744.1:c.4555_4556dup NP_001394673.1:p.Ile1520Glufs frameshift NM_001407745.1:c.4555_4556dup NP_001394674.1:p.Ile1520Glufs frameshift NM_001407746.1:c.4555_4556dup NP_001394675.1:p.Ile1520Glufs frameshift NM_001407747.1:c.4555_4556dup NP_001394676.1:p.Ile1520Glufs frameshift NM_001407748.1:c.4555_4556dup NP_001394677.1:p.Ile1520Glufs frameshift NM_001407749.1:c.4555_4556dup NP_001394678.1:p.Ile1520Glufs frameshift NM_001407750.1:c.4555_4556dup NP_001394679.1:p.Ile1520Glufs frameshift NM_001407751.1:c.4555_4556dup NP_001394680.1:p.Ile1520Glufs frameshift NM_001407752.1:c.4555_4556dup NP_001394681.1:p.Ile1520Glufs frameshift NM_001407838.1:c.4552_4553dup NP_001394767.1:p.Ile1519Glufs frameshift NM_001407839.1:c.4552_4553dup NP_001394768.1:p.Ile1519Glufs frameshift NM_001407841.1:c.4552_4553dup NP_001394770.1:p.Ile1519Glufs frameshift NM_001407842.1:c.4552_4553dup NP_001394771.1:p.Ile1519Glufs frameshift NM_001407843.1:c.4552_4553dup NP_001394772.1:p.Ile1519Glufs frameshift NM_001407844.1:c.4552_4553dup NP_001394773.1:p.Ile1519Glufs frameshift NM_001407845.1:c.4552_4553dup NP_001394774.1:p.Ile1519Glufs frameshift NM_001407846.1:c.4552_4553dup NP_001394775.1:p.Ile1519Glufs frameshift NM_001407847.1:c.4552_4553dup NP_001394776.1:p.Ile1519Glufs frameshift NM_001407848.1:c.4552_4553dup NP_001394777.1:p.Ile1519Glufs frameshift NM_001407849.1:c.4552_4553dup NP_001394778.1:p.Ile1519Glufs frameshift NM_001407850.1:c.4552_4553dup NP_001394779.1:p.Ile1519Glufs frameshift NM_001407851.1:c.4552_4553dup NP_001394780.1:p.Ile1519Glufs frameshift NM_001407852.1:c.4552_4553dup NP_001394781.1:p.Ile1519Glufs frameshift NM_001407853.1:c.4552_4553dup NP_001394782.1:p.Ile1519Glufs frameshift NM_001407854.1:c.4699_4700dup NP_001394783.1:p.Ile1568Glufs frameshift NM_001407858.1:c.4696_4697dup NP_001394787.1:p.Ile1567Glufs frameshift NM_001407859.1:c.4696_4697dup NP_001394788.1:p.Ile1567Glufs frameshift NM_001407860.1:c.4696_4697dup NP_001394789.1:p.Ile1567Glufs frameshift NM_001407861.1:c.4693_4694dup NP_001394790.1:p.Ile1566Glufs frameshift NM_001407862.1:c.4498_4499dup NP_001394791.1:p.Ile1501Glufs frameshift NM_001407863.1:c.4573_4574dup NP_001394792.1:p.Ile1526Glufs frameshift NM_001407874.1:c.4492_4493dup NP_001394803.1:p.Ile1499Glufs frameshift NM_001407875.1:c.4492_4493dup NP_001394804.1:p.Ile1499Glufs frameshift NM_001407879.1:c.4489_4490dup NP_001394808.1:p.Ile1498Glufs frameshift NM_001407881.1:c.4489_4490dup NP_001394810.1:p.Ile1498Glufs frameshift NM_001407882.1:c.4489_4490dup NP_001394811.1:p.Ile1498Glufs frameshift NM_001407884.1:c.4489_4490dup NP_001394813.1:p.Ile1498Glufs frameshift NM_001407885.1:c.4489_4490dup NP_001394814.1:p.Ile1498Glufs frameshift NM_001407886.1:c.4489_4490dup NP_001394815.1:p.Ile1498Glufs frameshift NM_001407887.1:c.4489_4490dup NP_001394816.1:p.Ile1498Glufs frameshift NM_001407889.1:c.4489_4490dup NP_001394818.1:p.Ile1498Glufs frameshift NM_001407894.1:c.4486_4487dup NP_001394823.1:p.Ile1497Glufs frameshift NM_001407895.1:c.4486_4487dup NP_001394824.1:p.Ile1497Glufs frameshift NM_001407896.1:c.4486_4487dup NP_001394825.1:p.Ile1497Glufs frameshift NM_001407897.1:c.4486_4487dup NP_001394826.1:p.Ile1497Glufs frameshift NM_001407898.1:c.4486_4487dup NP_001394827.1:p.Ile1497Glufs frameshift NM_001407899.1:c.4486_4487dup NP_001394828.1:p.Ile1497Glufs frameshift NM_001407900.1:c.4486_4487dup NP_001394829.1:p.Ile1497Glufs frameshift NM_001407902.1:c.4486_4487dup NP_001394831.1:p.Ile1497Glufs frameshift NM_001407904.1:c.4486_4487dup NP_001394833.1:p.Ile1497Glufs frameshift NM_001407906.1:c.4486_4487dup NP_001394835.1:p.Ile1497Glufs frameshift NM_001407907.1:c.4486_4487dup NP_001394836.1:p.Ile1497Glufs frameshift NM_001407908.1:c.4486_4487dup NP_001394837.1:p.Ile1497Glufs frameshift NM_001407909.1:c.4486_4487dup NP_001394838.1:p.Ile1497Glufs frameshift NM_001407910.1:c.4486_4487dup NP_001394839.1:p.Ile1497Glufs frameshift NM_001407915.1:c.4483_4484dup NP_001394844.1:p.Ile1496Glufs frameshift NM_001407916.1:c.4483_4484dup NP_001394845.1:p.Ile1496Glufs frameshift NM_001407917.1:c.4483_4484dup NP_001394846.1:p.Ile1496Glufs frameshift NM_001407918.1:c.4483_4484dup NP_001394847.1:p.Ile1496Glufs frameshift NM_001407919.1:c.4576_4577dup NP_001394848.1:p.Ile1527Glufs frameshift NM_001407920.1:c.4435_4436dup NP_001394849.1:p.Ile1480Glufs frameshift NM_001407921.1:c.4435_4436dup NP_001394850.1:p.Ile1480Glufs frameshift NM_001407922.1:c.4435_4436dup NP_001394851.1:p.Ile1480Glufs frameshift NM_001407923.1:c.4435_4436dup NP_001394852.1:p.Ile1480Glufs frameshift NM_001407924.1:c.4435_4436dup NP_001394853.1:p.Ile1480Glufs frameshift NM_001407925.1:c.4435_4436dup NP_001394854.1:p.Ile1480Glufs frameshift NM_001407926.1:c.4435_4436dup NP_001394855.1:p.Ile1480Glufs frameshift NM_001407927.1:c.4432_4433dup NP_001394856.1:p.Ile1479Glufs frameshift NM_001407928.1:c.4432_4433dup NP_001394857.1:p.Ile1479Glufs frameshift NM_001407929.1:c.4432_4433dup NP_001394858.1:p.Ile1479Glufs frameshift NM_001407930.1:c.4432_4433dup NP_001394859.1:p.Ile1479Glufs frameshift NM_001407931.1:c.4432_4433dup NP_001394860.1:p.Ile1479Glufs frameshift NM_001407932.1:c.4432_4433dup NP_001394861.1:p.Ile1479Glufs frameshift NM_001407933.1:c.4432_4433dup NP_001394862.1:p.Ile1479Glufs frameshift NM_001407934.1:c.4429_4430dup NP_001394863.1:p.Ile1478Glufs frameshift NM_001407935.1:c.4429_4430dup NP_001394864.1:p.Ile1478Glufs frameshift NM_001407936.1:c.4429_4430dup NP_001394865.1:p.Ile1478Glufs frameshift NM_001407937.1:c.4576_4577dup NP_001394866.1:p.Ile1527Glufs frameshift NM_001407938.1:c.4576_4577dup NP_001394867.1:p.Ile1527Glufs frameshift NM_001407939.1:c.4573_4574dup NP_001394868.1:p.Ile1526Glufs frameshift NM_001407940.1:c.4573_4574dup NP_001394869.1:p.Ile1526Glufs frameshift NM_001407941.1:c.4570_4571dup NP_001394870.1:p.Ile1525Glufs frameshift NM_001407942.1:c.4558_4559dup NP_001394871.1:p.Ile1521Glufs frameshift NM_001407943.1:c.4555_4556dup NP_001394872.1:p.Ile1520Glufs frameshift NM_001407944.1:c.4555_4556dup NP_001394873.1:p.Ile1520Glufs frameshift NM_001407945.1:c.4555_4556dup NP_001394874.1:p.Ile1520Glufs frameshift NM_001407946.1:c.4366_4367dup NP_001394875.1:p.Ile1457Glufs frameshift NM_001407947.1:c.4366_4367dup NP_001394876.1:p.Ile1457Glufs frameshift NM_001407948.1:c.4366_4367dup NP_001394877.1:p.Ile1457Glufs frameshift NM_001407949.1:c.4366_4367dup NP_001394878.1:p.Ile1457Glufs frameshift NM_001407950.1:c.4363_4364dup NP_001394879.1:p.Ile1456Glufs frameshift NM_001407951.1:c.4363_4364dup NP_001394880.1:p.Ile1456Glufs frameshift NM_001407952.1:c.4363_4364dup NP_001394881.1:p.Ile1456Glufs frameshift NM_001407953.1:c.4363_4364dup NP_001394882.1:p.Ile1456Glufs frameshift NM_001407954.1:c.4363_4364dup NP_001394883.1:p.Ile1456Glufs frameshift NM_001407955.1:c.4363_4364dup NP_001394884.1:p.Ile1456Glufs frameshift NM_001407956.1:c.4360_4361dup NP_001394885.1:p.Ile1455Glufs frameshift NM_001407957.1:c.4360_4361dup NP_001394886.1:p.Ile1455Glufs frameshift NM_001407958.1:c.4360_4361dup NP_001394887.1:p.Ile1455Glufs frameshift NM_001407959.1:c.4318_4319dup NP_001394888.1:p.Ile1441Glufs frameshift NM_001407960.1:c.4315_4316dup NP_001394889.1:p.Ile1440Glufs frameshift NM_001407962.1:c.4315_4316dup NP_001394891.1:p.Ile1440Glufs frameshift NM_001407963.1:c.4312_4313dup NP_001394892.1:p.Ile1439Glufs frameshift NM_001407964.1:c.4237_4238dup NP_001394893.1:p.Ile1414Glufs frameshift NM_001407965.1:c.4192_4193dup NP_001394894.1:p.Ile1399Glufs frameshift NM_001407966.1:c.3811_3812dup NP_001394895.1:p.Ile1272Glufs frameshift NM_001407967.1:c.3808_3809dup NP_001394896.1:p.Ile1271Glufs frameshift NM_001407968.1:c.2095_2096dup NP_001394897.1:p.Ile700Glufs frameshift NM_001407969.1:c.2092_2093dup NP_001394898.1:p.Ile699Glufs frameshift NM_001407970.1:c.1456_1457dup NP_001394899.1:p.Ile487Glufs frameshift NM_001407971.1:c.1456_1457dup NP_001394900.1:p.Ile487Glufs frameshift NM_001407972.1:c.1453_1454dup NP_001394901.1:p.Ile486Glufs frameshift NM_001407973.1:c.1390_1391dup NP_001394902.1:p.Ile465Glufs frameshift NM_001407974.1:c.1390_1391dup NP_001394903.1:p.Ile465Glufs frameshift NM_001407975.1:c.1390_1391dup NP_001394904.1:p.Ile465Glufs frameshift NM_001407976.1:c.1390_1391dup NP_001394905.1:p.Ile465Glufs frameshift NM_001407977.1:c.1390_1391dup NP_001394906.1:p.Ile465Glufs frameshift NM_001407978.1:c.1390_1391dup NP_001394907.1:p.Ile465Glufs frameshift NM_001407979.1:c.1387_1388dup NP_001394908.1:p.Ile464Glufs frameshift NM_001407980.1:c.1387_1388dup NP_001394909.1:p.Ile464Glufs frameshift NM_001407981.1:c.1387_1388dup NP_001394910.1:p.Ile464Glufs frameshift NM_001407982.1:c.1387_1388dup NP_001394911.1:p.Ile464Glufs frameshift NM_001407983.1:c.1387_1388dup NP_001394912.1:p.Ile464Glufs frameshift NM_001407984.1:c.1387_1388dup NP_001394913.1:p.Ile464Glufs frameshift NM_001407985.1:c.1387_1388dup NP_001394914.1:p.Ile464Glufs frameshift NM_001407986.1:c.1387_1388dup NP_001394915.1:p.Ile464Glufs frameshift NM_001407990.1:c.1387_1388dup NP_001394919.1:p.Ile464Glufs frameshift NM_001407991.1:c.1387_1388dup NP_001394920.1:p.Ile464Glufs frameshift NM_001407992.1:c.1387_1388dup NP_001394921.1:p.Ile464Glufs frameshift NM_001407993.1:c.1387_1388dup NP_001394922.1:p.Ile464Glufs frameshift NM_001408392.1:c.1384_1385dup NP_001395321.1:p.Ile463Glufs frameshift NM_001408396.1:c.1384_1385dup NP_001395325.1:p.Ile463Glufs frameshift NM_001408397.1:c.1384_1385dup NP_001395326.1:p.Ile463Glufs frameshift NM_001408398.1:c.1384_1385dup NP_001395327.1:p.Ile463Glufs frameshift NM_001408399.1:c.1384_1385dup NP_001395328.1:p.Ile463Glufs frameshift NM_001408400.1:c.1384_1385dup NP_001395329.1:p.Ile463Glufs frameshift NM_001408401.1:c.1384_1385dup NP_001395330.1:p.Ile463Glufs frameshift NM_001408402.1:c.1384_1385dup NP_001395331.1:p.Ile463Glufs frameshift NM_001408403.1:c.1384_1385dup NP_001395332.1:p.Ile463Glufs frameshift NM_001408404.1:c.1384_1385dup NP_001395333.1:p.Ile463Glufs frameshift NM_001408406.1:c.1381_1382dup NP_001395335.1:p.Ile462Glufs frameshift NM_001408407.1:c.1381_1382dup NP_001395336.1:p.Ile462Glufs frameshift NM_001408408.1:c.1381_1382dup NP_001395337.1:p.Ile462Glufs frameshift NM_001408409.1:c.1378_1379dup NP_001395338.1:p.Ile461Glufs frameshift NM_001408410.1:c.1315_1316dup NP_001395339.1:p.Ile440Glufs frameshift NM_001408411.1:c.1312_1313dup NP_001395340.1:p.Ile439Glufs frameshift NM_001408412.1:c.1309_1310dup NP_001395341.1:p.Ile438Glufs frameshift NM_001408413.1:c.1309_1310dup NP_001395342.1:p.Ile438Glufs frameshift NM_001408414.1:c.1309_1310dup NP_001395343.1:p.Ile438Glufs frameshift NM_001408415.1:c.1309_1310dup NP_001395344.1:p.Ile438Glufs frameshift NM_001408416.1:c.1309_1310dup NP_001395345.1:p.Ile438Glufs frameshift NM_001408418.1:c.1273_1274dup NP_001395347.1:p.Ile426Glufs frameshift NM_001408419.1:c.1273_1274dup NP_001395348.1:p.Ile426Glufs frameshift NM_001408420.1:c.1273_1274dup NP_001395349.1:p.Ile426Glufs frameshift NM_001408421.1:c.1270_1271dup NP_001395350.1:p.Ile425Glufs frameshift NM_001408422.1:c.1270_1271dup NP_001395351.1:p.Ile425Glufs frameshift NM_001408423.1:c.1270_1271dup NP_001395352.1:p.Ile425Glufs frameshift NM_001408424.1:c.1270_1271dup NP_001395353.1:p.Ile425Glufs frameshift NM_001408425.1:c.1267_1268dup NP_001395354.1:p.Ile424Glufs frameshift NM_001408426.1:c.1267_1268dup NP_001395355.1:p.Ile424Glufs frameshift NM_001408427.1:c.1267_1268dup NP_001395356.1:p.Ile424Glufs frameshift NM_001408428.1:c.1267_1268dup NP_001395357.1:p.Ile424Glufs frameshift NM_001408429.1:c.1267_1268dup NP_001395358.1:p.Ile424Glufs frameshift NM_001408430.1:c.1267_1268dup NP_001395359.1:p.Ile424Glufs frameshift NM_001408431.1:c.1267_1268dup NP_001395360.1:p.Ile424Glufs frameshift NM_001408432.1:c.1264_1265dup NP_001395361.1:p.Ile423Glufs frameshift NM_001408433.1:c.1264_1265dup NP_001395362.1:p.Ile423Glufs frameshift NM_001408434.1:c.1264_1265dup NP_001395363.1:p.Ile423Glufs frameshift NM_001408435.1:c.1264_1265dup NP_001395364.1:p.Ile423Glufs frameshift NM_001408436.1:c.1264_1265dup NP_001395365.1:p.Ile423Glufs frameshift NM_001408437.1:c.1264_1265dup NP_001395366.1:p.Ile423Glufs frameshift NM_001408438.1:c.1264_1265dup NP_001395367.1:p.Ile423Glufs frameshift NM_001408439.1:c.1264_1265dup NP_001395368.1:p.Ile423Glufs frameshift NM_001408440.1:c.1264_1265dup NP_001395369.1:p.Ile423Glufs frameshift NM_001408441.1:c.1264_1265dup NP_001395370.1:p.Ile423Glufs frameshift NM_001408442.1:c.1264_1265dup NP_001395371.1:p.Ile423Glufs frameshift NM_001408443.1:c.1264_1265dup NP_001395372.1:p.Ile423Glufs frameshift NM_001408444.1:c.1264_1265dup NP_001395373.1:p.Ile423Glufs frameshift NM_001408445.1:c.1261_1262dup NP_001395374.1:p.Ile422Glufs frameshift NM_001408446.1:c.1261_1262dup NP_001395375.1:p.Ile422Glufs frameshift NM_001408447.1:c.1261_1262dup NP_001395376.1:p.Ile422Glufs frameshift NM_001408448.1:c.1261_1262dup NP_001395377.1:p.Ile422Glufs frameshift NM_001408450.1:c.1261_1262dup NP_001395379.1:p.Ile422Glufs frameshift NM_001408451.1:c.1255_1256dup NP_001395380.1:p.Ile420Glufs frameshift NM_001408452.1:c.1249_1250dup NP_001395381.1:p.Ile418Glufs frameshift NM_001408453.1:c.1249_1250dup NP_001395382.1:p.Ile418Glufs frameshift NM_001408454.1:c.1249_1250dup NP_001395383.1:p.Ile418Glufs frameshift NM_001408455.1:c.1249_1250dup NP_001395384.1:p.Ile418Glufs frameshift NM_001408456.1:c.1249_1250dup NP_001395385.1:p.Ile418Glufs frameshift NM_001408457.1:c.1249_1250dup NP_001395386.1:p.Ile418Glufs frameshift NM_001408458.1:c.1246_1247dup NP_001395387.1:p.Ile417Glufs frameshift NM_001408459.1:c.1246_1247dup NP_001395388.1:p.Ile417Glufs frameshift NM_001408460.1:c.1246_1247dup NP_001395389.1:p.Ile417Glufs frameshift NM_001408461.1:c.1246_1247dup NP_001395390.1:p.Ile417Glufs frameshift NM_001408462.1:c.1246_1247dup NP_001395391.1:p.Ile417Glufs frameshift NM_001408463.1:c.1246_1247dup NP_001395392.1:p.Ile417Glufs frameshift NM_001408464.1:c.1246_1247dup NP_001395393.1:p.Ile417Glufs frameshift NM_001408465.1:c.1246_1247dup NP_001395394.1:p.Ile417Glufs frameshift NM_001408466.1:c.1246_1247dup NP_001395395.1:p.Ile417Glufs frameshift NM_001408467.1:c.1246_1247dup NP_001395396.1:p.Ile417Glufs frameshift NM_001408468.1:c.1243_1244dup NP_001395397.1:p.Ile416Glufs frameshift NM_001408469.1:c.1243_1244dup NP_001395398.1:p.Ile416Glufs frameshift NM_001408470.1:c.1243_1244dup NP_001395399.1:p.Ile416Glufs frameshift NM_001408472.1:c.1387_1388dup NP_001395401.1:p.Ile464Glufs frameshift NM_001408473.1:c.1384_1385dup NP_001395402.1:p.Ile463Glufs frameshift NM_001408474.1:c.1189_1190dup NP_001395403.1:p.Ile398Glufs frameshift NM_001408475.1:c.1186_1187dup NP_001395404.1:p.Ile397Glufs frameshift NM_001408476.1:c.1186_1187dup NP_001395405.1:p.Ile397Glufs frameshift NM_001408478.1:c.1180_1181dup NP_001395407.1:p.Ile395Glufs frameshift NM_001408479.1:c.1180_1181dup NP_001395408.1:p.Ile395Glufs frameshift NM_001408480.1:c.1180_1181dup NP_001395409.1:p.Ile395Glufs frameshift NM_001408481.1:c.1177_1178dup NP_001395410.1:p.Ile394Glufs frameshift NM_001408482.1:c.1177_1178dup NP_001395411.1:p.Ile394Glufs frameshift NM_001408483.1:c.1177_1178dup NP_001395412.1:p.Ile394Glufs frameshift NM_001408484.1:c.1177_1178dup NP_001395413.1:p.Ile394Glufs frameshift NM_001408485.1:c.1177_1178dup NP_001395414.1:p.Ile394Glufs frameshift NM_001408489.1:c.1177_1178dup NP_001395418.1:p.Ile394Glufs frameshift NM_001408490.1:c.1177_1178dup NP_001395419.1:p.Ile394Glufs frameshift NM_001408491.1:c.1177_1178dup NP_001395420.1:p.Ile394Glufs frameshift NM_001408492.1:c.1174_1175dup NP_001395421.1:p.Ile393Glufs frameshift NM_001408493.1:c.1174_1175dup NP_001395422.1:p.Ile393Glufs frameshift NM_001408494.1:c.1150_1151dup NP_001395423.1:p.Ile385Glufs frameshift NM_001408495.1:c.1144_1145dup NP_001395424.1:p.Ile383Glufs frameshift NM_001408496.1:c.1126_1127dup NP_001395425.1:p.Ile377Glufs frameshift NM_001408497.1:c.1126_1127dup NP_001395426.1:p.Ile377Glufs frameshift NM_001408498.1:c.1126_1127dup NP_001395427.1:p.Ile377Glufs frameshift NM_001408499.1:c.1126_1127dup NP_001395428.1:p.Ile377Glufs frameshift NM_001408500.1:c.1126_1127dup NP_001395429.1:p.Ile377Glufs frameshift NM_001408501.1:c.1126_1127dup NP_001395430.1:p.Ile377Glufs frameshift NM_001408502.1:c.1123_1124dup NP_001395431.1:p.Ile376Glufs frameshift NM_001408503.1:c.1123_1124dup NP_001395432.1:p.Ile376Glufs frameshift NM_001408504.1:c.1123_1124dup NP_001395433.1:p.Ile376Glufs frameshift NM_001408505.1:c.1120_1121dup NP_001395434.1:p.Ile375Glufs frameshift NM_001408506.1:c.1063_1064dup NP_001395435.1:p.Ile356Glufs frameshift NM_001408507.1:c.1060_1061dup NP_001395436.1:p.Ile355Glufs frameshift NM_001408508.1:c.1051_1052dup NP_001395437.1:p.Ile352Glufs frameshift NM_001408509.1:c.1048_1049dup NP_001395438.1:p.Ile351Glufs frameshift NM_001408510.1:c.1009_1010dup NP_001395439.1:p.Ile338Glufs frameshift NM_001408511.1:c.1006_1007dup NP_001395440.1:p.Ile337Glufs frameshift NM_001408512.1:c.886_887dup NP_001395441.1:p.Ile297Glufs frameshift NM_001408513.1:c.859_860dup NP_001395442.1:p.Ile288Glufs frameshift NM_007294.3:c.4699_4700dupGG frameshift NM_007297.4:c.4558_4559dup NP_009228.2:p.Ile1521fs frameshift NM_007298.4:c.1387_1388dup NP_009229.2:p.Ile464Glufs frameshift NM_007299.4:c.1387_1388dup NP_009230.2:p.Ile464fs frameshift NM_007300.4:c.4762_4763dup NP_009231.2:p.Ile1589fs frameshift NM_007304.2:c.1387_1388dup NP_009235.2:p.Ile464Glufs frameshift NR_027676.2:n.4876_4877dup non-coding transcript variant NC_000017.11:g.43071214_43071215dup NC_000017.10:g.41223231_41223232dup NG_005905.2:g.146769_146770dup LRG_292:g.146769_146770dup LRG_292t1:c.4699_4700dup LRG_292p1:p.Ile1568Glufs - Protein change
- I1589fs, I1568fs, I1521fs, I464fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071213:CC:CCCC
-
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) |
criteria provided, single submitter
|
Sep 10, 2021 | RCV000818593.8 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Dec 7, 2021 | RCV002332692.2 |
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
(Sep 10, 2021)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000959215.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has not … (more)
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 661222). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile1568Glufs*34) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. (less)
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Pathogenic
(Dec 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002633920.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.4699_4700dupGG variant, located in coding exon 14 of the BRCA1 gene, results from a duplication of GG at nucleotide position 4699, causing a translational … (more)
The c.4699_4700dupGG variant, located in coding exon 14 of the BRCA1 gene, results from a duplication of GG at nucleotide position 4699, causing a translational frameshift with a predicted alternate stop codon (p.I1568Efs*34). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Comment:
Comment:
The c.4699_4700dupGG variant, located in coding exon 14 of the BRCA1 gene, results from a duplication of GG at nucleotide position 4699, causing a translational frameshift with a predicted alternate stop codon (p.I1568Efs*34). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
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:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 661222). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile1568Glufs*34) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Comment:
The c.4699_4700dupGG variant, located in coding exon 14 of the BRCA1 gene, results from a duplication of GG at nucleotide position 4699, causing a translational frameshift with a predicted alternate stop codon (p.I1568Efs*34). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Citations for germline classification of this variant
Help| Title | 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 rs1597831850 ...
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 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.