This variant inserts 1 nucleotide in exon 13 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4438dup (p.Ser1480fs)
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.
(1)
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
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4438dup (p.Ser1480fs)
Variation ID: 922196 Accession: VCV000922196.4
- Type and length
-
Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43076533-43076534 (GRCh38) [ NCBI UCSC ] 17: 41228550-41228551 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jun 22, 2020 Jan 12, 2022 Jan 15, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4438dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1480fs frameshift NM_001407571.1:c.4225dup NP_001394500.1:p.Ser1409Phefs frameshift NM_001407581.1:c.4504dup NP_001394510.1:p.Ser1502Phefs frameshift NM_001407582.1:c.4504dup NP_001394511.1:p.Ser1502Phefs frameshift NM_001407583.1:c.4501dup NP_001394512.1:p.Ser1501Phefs frameshift NM_001407585.1:c.4501dup NP_001394514.1:p.Ser1501Phefs frameshift NM_001407587.1:c.4501dup NP_001394516.1:p.Ser1501Phefs frameshift NM_001407590.1:c.4498dup NP_001394519.1:p.Ser1500Phefs frameshift NM_001407591.1:c.4498dup NP_001394520.1:p.Ser1500Phefs frameshift NM_001407593.1:c.4438dup NP_001394522.1:p.Ser1480Phefs frameshift NM_001407594.1:c.4438dup NP_001394523.1:p.Ser1480Phefs frameshift NM_001407596.1:c.4438dup NP_001394525.1:p.Ser1480Phefs frameshift NM_001407597.1:c.4438dup NP_001394526.1:p.Ser1480Phefs frameshift NM_001407598.1:c.4438dup NP_001394527.1:p.Ser1480Phefs frameshift NM_001407602.1:c.4438dup NP_001394531.1:p.Ser1480Phefs frameshift NM_001407603.1:c.4438dup NP_001394532.1:p.Ser1480Phefs frameshift NM_001407605.1:c.4438dup NP_001394534.1:p.Ser1480Phefs frameshift NM_001407610.1:c.4435dup NP_001394539.1:p.Ser1479Phefs frameshift NM_001407611.1:c.4435dup NP_001394540.1:p.Ser1479Phefs frameshift NM_001407612.1:c.4435dup NP_001394541.1:p.Ser1479Phefs frameshift NM_001407613.1:c.4435dup NP_001394542.1:p.Ser1479Phefs frameshift NM_001407614.1:c.4435dup NP_001394543.1:p.Ser1479Phefs frameshift NM_001407615.1:c.4435dup NP_001394544.1:p.Ser1479Phefs frameshift NM_001407616.1:c.4435dup NP_001394545.1:p.Ser1479Phefs frameshift NM_001407617.1:c.4435dup NP_001394546.1:p.Ser1479Phefs frameshift NM_001407618.1:c.4435dup NP_001394547.1:p.Ser1479Phefs frameshift NM_001407619.1:c.4435dup NP_001394548.1:p.Ser1479Phefs frameshift NM_001407620.1:c.4435dup NP_001394549.1:p.Ser1479Phefs frameshift NM_001407621.1:c.4435dup NP_001394550.1:p.Ser1479Phefs frameshift NM_001407622.1:c.4435dup NP_001394551.1:p.Ser1479Phefs frameshift NM_001407623.1:c.4435dup NP_001394552.1:p.Ser1479Phefs frameshift NM_001407624.1:c.4435dup NP_001394553.1:p.Ser1479Phefs frameshift NM_001407625.1:c.4435dup NP_001394554.1:p.Ser1479Phefs frameshift NM_001407626.1:c.4435dup NP_001394555.1:p.Ser1479Phefs frameshift NM_001407627.1:c.4432dup NP_001394556.1:p.Ser1478Phefs frameshift NM_001407628.1:c.4432dup NP_001394557.1:p.Ser1478Phefs frameshift NM_001407629.1:c.4432dup NP_001394558.1:p.Ser1478Phefs frameshift NM_001407630.1:c.4432dup NP_001394559.1:p.Ser1478Phefs frameshift NM_001407631.1:c.4432dup NP_001394560.1:p.Ser1478Phefs frameshift NM_001407632.1:c.4432dup NP_001394561.1:p.Ser1478Phefs frameshift NM_001407633.1:c.4432dup NP_001394562.1:p.Ser1478Phefs frameshift NM_001407634.1:c.4432dup NP_001394563.1:p.Ser1478Phefs frameshift NM_001407635.1:c.4432dup NP_001394564.1:p.Ser1478Phefs frameshift NM_001407636.1:c.4432dup NP_001394565.1:p.Ser1478Phefs frameshift NM_001407637.1:c.4432dup NP_001394566.1:p.Ser1478Phefs frameshift NM_001407638.1:c.4432dup NP_001394567.1:p.Ser1478Phefs frameshift NM_001407639.1:c.4432dup NP_001394568.1:p.Ser1478Phefs frameshift NM_001407640.1:c.4432dup NP_001394569.1:p.Ser1478Phefs frameshift NM_001407641.1:c.4432dup NP_001394570.1:p.Ser1478Phefs frameshift NM_001407642.1:c.4432dup NP_001394571.1:p.Ser1478Phefs frameshift NM_001407644.1:c.4429dup NP_001394573.1:p.Ser1477Phefs frameshift NM_001407645.1:c.4429dup NP_001394574.1:p.Ser1477Phefs frameshift NM_001407646.1:c.4426dup NP_001394575.1:p.Ser1476Phefs frameshift NM_001407647.1:c.4423dup NP_001394576.1:p.Ser1475Phefs frameshift NM_001407648.1:c.4381dup NP_001394577.1:p.Ser1461Phefs frameshift NM_001407649.1:c.4378dup NP_001394578.1:p.Ser1460Phefs frameshift NM_001407652.1:c.4438dup NP_001394581.1:p.Ser1480Phefs frameshift NM_001407653.1:c.4360dup NP_001394582.1:p.Ser1454Phefs frameshift NM_001407654.1:c.4360dup NP_001394583.1:p.Ser1454Phefs frameshift NM_001407655.1:c.4360dup NP_001394584.1:p.Ser1454Phefs frameshift NM_001407656.1:c.4357dup NP_001394585.1:p.Ser1453Phefs frameshift NM_001407657.1:c.4357dup NP_001394586.1:p.Ser1453Phefs frameshift NM_001407658.1:c.4357dup NP_001394587.1:p.Ser1453Phefs frameshift NM_001407659.1:c.4354dup NP_001394588.1:p.Ser1452Phefs frameshift NM_001407660.1:c.4354dup NP_001394589.1:p.Ser1452Phefs frameshift NM_001407661.1:c.4354dup NP_001394590.1:p.Ser1452Phefs frameshift NM_001407662.1:c.4354dup NP_001394591.1:p.Ser1452Phefs frameshift NM_001407663.1:c.4354dup NP_001394592.1:p.Ser1452Phefs frameshift NM_001407664.1:c.4315dup NP_001394593.1:p.Ser1439Phefs frameshift NM_001407665.1:c.4315dup NP_001394594.1:p.Ser1439Phefs frameshift NM_001407666.1:c.4315dup NP_001394595.1:p.Ser1439Phefs frameshift NM_001407667.1:c.4315dup NP_001394596.1:p.Ser1439Phefs frameshift NM_001407668.1:c.4315dup NP_001394597.1:p.Ser1439Phefs frameshift NM_001407669.1:c.4315dup NP_001394598.1:p.Ser1439Phefs frameshift NM_001407670.1:c.4312dup NP_001394599.1:p.Ser1438Phefs frameshift NM_001407671.1:c.4312dup NP_001394600.1:p.Ser1438Phefs frameshift NM_001407672.1:c.4312dup NP_001394601.1:p.Ser1438Phefs frameshift NM_001407673.1:c.4312dup NP_001394602.1:p.Ser1438Phefs frameshift NM_001407674.1:c.4312dup NP_001394603.1:p.Ser1438Phefs frameshift NM_001407675.1:c.4312dup NP_001394604.1:p.Ser1438Phefs frameshift NM_001407676.1:c.4312dup NP_001394605.1:p.Ser1438Phefs frameshift NM_001407677.1:c.4312dup NP_001394606.1:p.Ser1438Phefs frameshift NM_001407678.1:c.4312dup NP_001394607.1:p.Ser1438Phefs frameshift NM_001407679.1:c.4312dup NP_001394608.1:p.Ser1438Phefs frameshift NM_001407680.1:c.4312dup NP_001394609.1:p.Ser1438Phefs frameshift NM_001407681.1:c.4309dup NP_001394610.1:p.Ser1437Phefs frameshift NM_001407682.1:c.4309dup NP_001394611.1:p.Ser1437Phefs frameshift NM_001407683.1:c.4309dup NP_001394612.1:p.Ser1437Phefs frameshift NM_001407684.1:c.4438dup NP_001394613.1:p.Ser1480Phefs frameshift NM_001407685.1:c.4309dup NP_001394614.1:p.Ser1437Phefs frameshift NM_001407686.1:c.4309dup NP_001394615.1:p.Ser1437Phefs frameshift NM_001407687.1:c.4309dup NP_001394616.1:p.Ser1437Phefs frameshift NM_001407688.1:c.4309dup NP_001394617.1:p.Ser1437Phefs frameshift NM_001407689.1:c.4309dup NP_001394618.1:p.Ser1437Phefs frameshift NM_001407690.1:c.4306dup NP_001394619.1:p.Ser1436Phefs frameshift NM_001407691.1:c.4306dup NP_001394620.1:p.Ser1436Phefs frameshift NM_001407692.1:c.4297dup NP_001394621.1:p.Ser1433Phefs frameshift NM_001407694.1:c.4297dup NP_001394623.1:p.Ser1433Phefs frameshift NM_001407695.1:c.4297dup NP_001394624.1:p.Ser1433Phefs frameshift NM_001407696.1:c.4297dup NP_001394625.1:p.Ser1433Phefs frameshift NM_001407697.1:c.4297dup NP_001394626.1:p.Ser1433Phefs frameshift NM_001407698.1:c.4297dup NP_001394627.1:p.Ser1433Phefs frameshift NM_001407724.1:c.4297dup NP_001394653.1:p.Ser1433Phefs frameshift NM_001407725.1:c.4297dup NP_001394654.1:p.Ser1433Phefs frameshift NM_001407726.1:c.4297dup NP_001394655.1:p.Ser1433Phefs frameshift NM_001407727.1:c.4297dup NP_001394656.1:p.Ser1433Phefs frameshift NM_001407728.1:c.4297dup NP_001394657.1:p.Ser1433Phefs frameshift NM_001407729.1:c.4297dup NP_001394658.1:p.Ser1433Phefs frameshift NM_001407730.1:c.4297dup NP_001394659.1:p.Ser1433Phefs frameshift NM_001407731.1:c.4297dup NP_001394660.1:p.Ser1433Phefs frameshift NM_001407732.1:c.4294dup NP_001394661.1:p.Ser1432Phefs frameshift NM_001407733.1:c.4294dup NP_001394662.1:p.Ser1432Phefs frameshift NM_001407734.1:c.4294dup NP_001394663.1:p.Ser1432Phefs frameshift NM_001407735.1:c.4294dup NP_001394664.1:p.Ser1432Phefs frameshift NM_001407736.1:c.4294dup NP_001394665.1:p.Ser1432Phefs frameshift NM_001407737.1:c.4294dup NP_001394666.1:p.Ser1432Phefs frameshift NM_001407738.1:c.4294dup NP_001394667.1:p.Ser1432Phefs frameshift NM_001407739.1:c.4294dup NP_001394668.1:p.Ser1432Phefs frameshift NM_001407740.1:c.4294dup NP_001394669.1:p.Ser1432Phefs frameshift NM_001407741.1:c.4294dup NP_001394670.1:p.Ser1432Phefs frameshift NM_001407742.1:c.4294dup NP_001394671.1:p.Ser1432Phefs frameshift NM_001407743.1:c.4294dup NP_001394672.1:p.Ser1432Phefs frameshift NM_001407744.1:c.4294dup NP_001394673.1:p.Ser1432Phefs frameshift NM_001407745.1:c.4294dup NP_001394674.1:p.Ser1432Phefs frameshift NM_001407746.1:c.4294dup NP_001394675.1:p.Ser1432Phefs frameshift NM_001407747.1:c.4294dup NP_001394676.1:p.Ser1432Phefs frameshift NM_001407748.1:c.4294dup NP_001394677.1:p.Ser1432Phefs frameshift NM_001407749.1:c.4294dup NP_001394678.1:p.Ser1432Phefs frameshift NM_001407750.1:c.4294dup NP_001394679.1:p.Ser1432Phefs frameshift NM_001407751.1:c.4294dup NP_001394680.1:p.Ser1432Phefs frameshift NM_001407752.1:c.4294dup NP_001394681.1:p.Ser1432Phefs frameshift NM_001407838.1:c.4291dup NP_001394767.1:p.Ser1431Phefs frameshift NM_001407839.1:c.4291dup NP_001394768.1:p.Ser1431Phefs frameshift NM_001407841.1:c.4291dup NP_001394770.1:p.Ser1431Phefs frameshift NM_001407842.1:c.4291dup NP_001394771.1:p.Ser1431Phefs frameshift NM_001407843.1:c.4291dup NP_001394772.1:p.Ser1431Phefs frameshift NM_001407844.1:c.4291dup NP_001394773.1:p.Ser1431Phefs frameshift NM_001407845.1:c.4291dup NP_001394774.1:p.Ser1431Phefs frameshift NM_001407846.1:c.4291dup NP_001394775.1:p.Ser1431Phefs frameshift NM_001407847.1:c.4291dup NP_001394776.1:p.Ser1431Phefs frameshift NM_001407848.1:c.4291dup NP_001394777.1:p.Ser1431Phefs frameshift NM_001407849.1:c.4291dup NP_001394778.1:p.Ser1431Phefs frameshift NM_001407850.1:c.4291dup NP_001394779.1:p.Ser1431Phefs frameshift NM_001407851.1:c.4291dup NP_001394780.1:p.Ser1431Phefs frameshift NM_001407852.1:c.4291dup NP_001394781.1:p.Ser1431Phefs frameshift NM_001407853.1:c.4291dup NP_001394782.1:p.Ser1431Phefs frameshift NM_001407854.1:c.4438dup NP_001394783.1:p.Ser1480Phefs frameshift NM_001407858.1:c.4435dup NP_001394787.1:p.Ser1479Phefs frameshift NM_001407859.1:c.4435dup NP_001394788.1:p.Ser1479Phefs frameshift NM_001407860.1:c.4435dup NP_001394789.1:p.Ser1479Phefs frameshift NM_001407861.1:c.4432dup NP_001394790.1:p.Ser1478Phefs frameshift NM_001407862.1:c.4237dup NP_001394791.1:p.Ser1413Phefs frameshift NM_001407863.1:c.4312dup NP_001394792.1:p.Ser1438Phefs frameshift NM_001407874.1:c.4231dup NP_001394803.1:p.Ser1411Phefs frameshift NM_001407875.1:c.4231dup NP_001394804.1:p.Ser1411Phefs frameshift NM_001407879.1:c.4228dup NP_001394808.1:p.Ser1410Phefs frameshift NM_001407881.1:c.4228dup NP_001394810.1:p.Ser1410Phefs frameshift NM_001407882.1:c.4228dup NP_001394811.1:p.Ser1410Phefs frameshift NM_001407884.1:c.4228dup NP_001394813.1:p.Ser1410Phefs frameshift NM_001407885.1:c.4228dup NP_001394814.1:p.Ser1410Phefs frameshift NM_001407886.1:c.4228dup NP_001394815.1:p.Ser1410Phefs frameshift NM_001407887.1:c.4228dup NP_001394816.1:p.Ser1410Phefs frameshift NM_001407889.1:c.4228dup NP_001394818.1:p.Ser1410Phefs frameshift NM_001407894.1:c.4225dup NP_001394823.1:p.Ser1409Phefs frameshift NM_001407895.1:c.4225dup NP_001394824.1:p.Ser1409Phefs frameshift NM_001407896.1:c.4225dup NP_001394825.1:p.Ser1409Phefs frameshift NM_001407897.1:c.4225dup NP_001394826.1:p.Ser1409Phefs frameshift NM_001407898.1:c.4225dup NP_001394827.1:p.Ser1409Phefs frameshift NM_001407899.1:c.4225dup NP_001394828.1:p.Ser1409Phefs frameshift NM_001407900.1:c.4225dup NP_001394829.1:p.Ser1409Phefs frameshift NM_001407902.1:c.4225dup NP_001394831.1:p.Ser1409Phefs frameshift NM_001407904.1:c.4225dup NP_001394833.1:p.Ser1409Phefs frameshift NM_001407906.1:c.4225dup NP_001394835.1:p.Ser1409Phefs frameshift NM_001407907.1:c.4225dup NP_001394836.1:p.Ser1409Phefs frameshift NM_001407908.1:c.4225dup NP_001394837.1:p.Ser1409Phefs frameshift NM_001407909.1:c.4225dup NP_001394838.1:p.Ser1409Phefs frameshift NM_001407910.1:c.4225dup NP_001394839.1:p.Ser1409Phefs frameshift NM_001407915.1:c.4222dup NP_001394844.1:p.Ser1408Phefs frameshift NM_001407916.1:c.4222dup NP_001394845.1:p.Ser1408Phefs frameshift NM_001407917.1:c.4222dup NP_001394846.1:p.Ser1408Phefs frameshift NM_001407918.1:c.4222dup NP_001394847.1:p.Ser1408Phefs frameshift NM_001407919.1:c.4315dup NP_001394848.1:p.Ser1439Phefs frameshift NM_001407920.1:c.4174dup NP_001394849.1:p.Ser1392Phefs frameshift NM_001407921.1:c.4174dup NP_001394850.1:p.Ser1392Phefs frameshift NM_001407922.1:c.4174dup NP_001394851.1:p.Ser1392Phefs frameshift NM_001407923.1:c.4174dup NP_001394852.1:p.Ser1392Phefs frameshift NM_001407924.1:c.4174dup NP_001394853.1:p.Ser1392Phefs frameshift NM_001407925.1:c.4174dup NP_001394854.1:p.Ser1392Phefs frameshift NM_001407926.1:c.4174dup NP_001394855.1:p.Ser1392Phefs frameshift NM_001407927.1:c.4171dup NP_001394856.1:p.Ser1391Phefs frameshift NM_001407928.1:c.4171dup NP_001394857.1:p.Ser1391Phefs frameshift NM_001407929.1:c.4171dup NP_001394858.1:p.Ser1391Phefs frameshift NM_001407930.1:c.4171dup NP_001394859.1:p.Ser1391Phefs frameshift NM_001407931.1:c.4171dup NP_001394860.1:p.Ser1391Phefs frameshift NM_001407932.1:c.4171dup NP_001394861.1:p.Ser1391Phefs frameshift NM_001407933.1:c.4171dup NP_001394862.1:p.Ser1391Phefs frameshift NM_001407934.1:c.4168dup NP_001394863.1:p.Ser1390Phefs frameshift NM_001407935.1:c.4168dup NP_001394864.1:p.Ser1390Phefs frameshift NM_001407936.1:c.4168dup NP_001394865.1:p.Ser1390Phefs frameshift NM_001407937.1:c.4315dup NP_001394866.1:p.Ser1439Phefs frameshift NM_001407938.1:c.4315dup NP_001394867.1:p.Ser1439Phefs frameshift NM_001407939.1:c.4312dup NP_001394868.1:p.Ser1438Phefs frameshift NM_001407940.1:c.4312dup NP_001394869.1:p.Ser1438Phefs frameshift NM_001407941.1:c.4309dup NP_001394870.1:p.Ser1437Phefs frameshift NM_001407942.1:c.4297dup NP_001394871.1:p.Ser1433Phefs frameshift NM_001407943.1:c.4294dup NP_001394872.1:p.Ser1432Phefs frameshift NM_001407944.1:c.4294dup NP_001394873.1:p.Ser1432Phefs frameshift NM_001407945.1:c.4294dup NP_001394874.1:p.Ser1432Phefs frameshift NM_001407946.1:c.4105dup NP_001394875.1:p.Ser1369Phefs frameshift NM_001407947.1:c.4105dup NP_001394876.1:p.Ser1369Phefs frameshift NM_001407948.1:c.4105dup NP_001394877.1:p.Ser1369Phefs frameshift NM_001407949.1:c.4105dup NP_001394878.1:p.Ser1369Phefs frameshift NM_001407950.1:c.4102dup NP_001394879.1:p.Ser1368Phefs frameshift NM_001407951.1:c.4102dup NP_001394880.1:p.Ser1368Phefs frameshift NM_001407952.1:c.4102dup NP_001394881.1:p.Ser1368Phefs frameshift NM_001407953.1:c.4102dup NP_001394882.1:p.Ser1368Phefs frameshift NM_001407954.1:c.4102dup NP_001394883.1:p.Ser1368Phefs frameshift NM_001407955.1:c.4102dup NP_001394884.1:p.Ser1368Phefs frameshift NM_001407956.1:c.4099dup NP_001394885.1:p.Ser1367Phefs frameshift NM_001407957.1:c.4099dup NP_001394886.1:p.Ser1367Phefs frameshift NM_001407958.1:c.4099dup NP_001394887.1:p.Ser1367Phefs frameshift NM_001407959.1:c.4057dup NP_001394888.1:p.Ser1353Phefs frameshift NM_001407960.1:c.4054dup NP_001394889.1:p.Ser1352Phefs frameshift NM_001407962.1:c.4054dup NP_001394891.1:p.Ser1352Phefs frameshift NM_001407963.1:c.4051dup NP_001394892.1:p.Ser1351Phefs frameshift NM_001407965.1:c.3931dup NP_001394894.1:p.Ser1311Phefs frameshift NM_001407966.1:c.3550dup NP_001394895.1:p.Ser1184Phefs frameshift NM_001407967.1:c.3547dup NP_001394896.1:p.Ser1183Phefs frameshift NM_001407968.1:c.1834dup NP_001394897.1:p.Ser612Phefs frameshift NM_001407969.1:c.1831dup NP_001394898.1:p.Ser611Phefs frameshift NM_001407970.1:c.1195dup NP_001394899.1:p.Ser399Phefs frameshift NM_001407971.1:c.1195dup NP_001394900.1:p.Ser399Phefs frameshift NM_001407972.1:c.1192dup NP_001394901.1:p.Ser398Phefs frameshift NM_001407973.1:c.1129dup NP_001394902.1:p.Ser377Phefs frameshift NM_001407974.1:c.1129dup NP_001394903.1:p.Ser377Phefs frameshift NM_001407975.1:c.1129dup NP_001394904.1:p.Ser377Phefs frameshift NM_001407976.1:c.1129dup NP_001394905.1:p.Ser377Phefs frameshift NM_001407977.1:c.1129dup NP_001394906.1:p.Ser377Phefs frameshift NM_001407978.1:c.1129dup NP_001394907.1:p.Ser377Phefs frameshift NM_001407979.1:c.1126dup NP_001394908.1:p.Ser376Phefs frameshift NM_001407980.1:c.1126dup NP_001394909.1:p.Ser376Phefs frameshift NM_001407981.1:c.1126dup NP_001394910.1:p.Ser376Phefs frameshift NM_001407982.1:c.1126dup NP_001394911.1:p.Ser376Phefs frameshift NM_001407983.1:c.1126dup NP_001394912.1:p.Ser376Phefs frameshift NM_001407984.1:c.1126dup NP_001394913.1:p.Ser376Phefs frameshift NM_001407985.1:c.1126dup NP_001394914.1:p.Ser376Phefs frameshift NM_001407986.1:c.1126dup NP_001394915.1:p.Ser376Phefs frameshift NM_001407990.1:c.1126dup NP_001394919.1:p.Ser376Phefs frameshift NM_001407991.1:c.1126dup NP_001394920.1:p.Ser376Phefs frameshift NM_001407992.1:c.1126dup NP_001394921.1:p.Ser376Phefs frameshift NM_001407993.1:c.1126dup NP_001394922.1:p.Ser376Phefs frameshift NM_001408392.1:c.1123dup NP_001395321.1:p.Ser375Phefs frameshift NM_001408396.1:c.1123dup NP_001395325.1:p.Ser375Phefs frameshift NM_001408397.1:c.1123dup NP_001395326.1:p.Ser375Phefs frameshift NM_001408398.1:c.1123dup NP_001395327.1:p.Ser375Phefs frameshift NM_001408399.1:c.1123dup NP_001395328.1:p.Ser375Phefs frameshift NM_001408400.1:c.1123dup NP_001395329.1:p.Ser375Phefs frameshift NM_001408401.1:c.1123dup NP_001395330.1:p.Ser375Phefs frameshift NM_001408402.1:c.1123dup NP_001395331.1:p.Ser375Phefs frameshift NM_001408403.1:c.1123dup NP_001395332.1:p.Ser375Phefs frameshift NM_001408404.1:c.1123dup NP_001395333.1:p.Ser375Phefs frameshift NM_001408406.1:c.1120dup NP_001395335.1:p.Ser374Phefs frameshift NM_001408407.1:c.1120dup NP_001395336.1:p.Ser374Phefs frameshift NM_001408408.1:c.1120dup NP_001395337.1:p.Ser374Phefs frameshift NM_001408409.1:c.1117dup NP_001395338.1:p.Ser373Phefs frameshift NM_001408410.1:c.1054dup NP_001395339.1:p.Ser352Phefs frameshift NM_001408411.1:c.1051dup NP_001395340.1:p.Ser351Phefs frameshift NM_001408412.1:c.1048dup NP_001395341.1:p.Ser350Phefs frameshift NM_001408413.1:c.1048dup NP_001395342.1:p.Ser350Phefs frameshift NM_001408414.1:c.1048dup NP_001395343.1:p.Ser350Phefs frameshift NM_001408415.1:c.1048dup NP_001395344.1:p.Ser350Phefs frameshift NM_001408416.1:c.1048dup NP_001395345.1:p.Ser350Phefs frameshift NM_001408418.1:c.1012dup NP_001395347.1:p.Ser338Phefs frameshift NM_001408419.1:c.1012dup NP_001395348.1:p.Ser338Phefs frameshift NM_001408420.1:c.1012dup NP_001395349.1:p.Ser338Phefs frameshift NM_001408421.1:c.1009dup NP_001395350.1:p.Ser337Phefs frameshift NM_001408422.1:c.1009dup NP_001395351.1:p.Ser337Phefs frameshift NM_001408423.1:c.1009dup NP_001395352.1:p.Ser337Phefs frameshift NM_001408424.1:c.1009dup NP_001395353.1:p.Ser337Phefs frameshift NM_001408425.1:c.1006dup NP_001395354.1:p.Ser336Phefs frameshift NM_001408426.1:c.1006dup NP_001395355.1:p.Ser336Phefs frameshift NM_001408427.1:c.1006dup NP_001395356.1:p.Ser336Phefs frameshift NM_001408428.1:c.1006dup NP_001395357.1:p.Ser336Phefs frameshift NM_001408429.1:c.1006dup NP_001395358.1:p.Ser336Phefs frameshift NM_001408430.1:c.1006dup NP_001395359.1:p.Ser336Phefs frameshift NM_001408431.1:c.1006dup NP_001395360.1:p.Ser336Phefs frameshift NM_001408432.1:c.1003dup NP_001395361.1:p.Ser335Phefs frameshift NM_001408433.1:c.1003dup NP_001395362.1:p.Ser335Phefs frameshift NM_001408434.1:c.1003dup NP_001395363.1:p.Ser335Phefs frameshift NM_001408435.1:c.1003dup NP_001395364.1:p.Ser335Phefs frameshift NM_001408436.1:c.1003dup NP_001395365.1:p.Ser335Phefs frameshift NM_001408437.1:c.1003dup NP_001395366.1:p.Ser335Phefs frameshift NM_001408438.1:c.1003dup NP_001395367.1:p.Ser335Phefs frameshift NM_001408439.1:c.1003dup NP_001395368.1:p.Ser335Phefs frameshift NM_001408440.1:c.1003dup NP_001395369.1:p.Ser335Phefs frameshift NM_001408441.1:c.1003dup NP_001395370.1:p.Ser335Phefs frameshift NM_001408442.1:c.1003dup NP_001395371.1:p.Ser335Phefs frameshift NM_001408443.1:c.1003dup NP_001395372.1:p.Ser335Phefs frameshift NM_001408444.1:c.1003dup NP_001395373.1:p.Ser335Phefs frameshift NM_001408445.1:c.1000dup NP_001395374.1:p.Ser334Phefs frameshift NM_001408446.1:c.1000dup NP_001395375.1:p.Ser334Phefs frameshift NM_001408447.1:c.1000dup NP_001395376.1:p.Ser334Phefs frameshift NM_001408448.1:c.1000dup NP_001395377.1:p.Ser334Phefs frameshift NM_001408450.1:c.1000dup NP_001395379.1:p.Ser334Phefs frameshift NM_001408451.1:c.994dup NP_001395380.1:p.Ser332Phefs frameshift NM_001408452.1:c.988dup NP_001395381.1:p.Ser330Phefs frameshift NM_001408453.1:c.988dup NP_001395382.1:p.Ser330Phefs frameshift NM_001408454.1:c.988dup NP_001395383.1:p.Ser330Phefs frameshift NM_001408455.1:c.988dup NP_001395384.1:p.Ser330Phefs frameshift NM_001408456.1:c.988dup NP_001395385.1:p.Ser330Phefs frameshift NM_001408457.1:c.988dup NP_001395386.1:p.Ser330Phefs frameshift NM_001408458.1:c.985dup NP_001395387.1:p.Ser329Phefs frameshift NM_001408459.1:c.985dup NP_001395388.1:p.Ser329Phefs frameshift NM_001408460.1:c.985dup NP_001395389.1:p.Ser329Phefs frameshift NM_001408461.1:c.985dup NP_001395390.1:p.Ser329Phefs frameshift NM_001408462.1:c.985dup NP_001395391.1:p.Ser329Phefs frameshift NM_001408463.1:c.985dup NP_001395392.1:p.Ser329Phefs frameshift NM_001408464.1:c.985dup NP_001395393.1:p.Ser329Phefs frameshift NM_001408465.1:c.985dup NP_001395394.1:p.Ser329Phefs frameshift NM_001408466.1:c.985dup NP_001395395.1:p.Ser329Phefs frameshift NM_001408467.1:c.985dup NP_001395396.1:p.Ser329Phefs frameshift NM_001408468.1:c.982dup NP_001395397.1:p.Ser328Phefs frameshift NM_001408469.1:c.982dup NP_001395398.1:p.Ser328Phefs frameshift NM_001408470.1:c.982dup NP_001395399.1:p.Ser328Phefs frameshift NM_001408472.1:c.1126dup NP_001395401.1:p.Ser376Phefs frameshift NM_001408473.1:c.1123dup NP_001395402.1:p.Ser375Phefs frameshift NM_001408474.1:c.928dup NP_001395403.1:p.Ser310Phefs frameshift NM_001408475.1:c.925dup NP_001395404.1:p.Ser309Phefs frameshift NM_001408476.1:c.925dup NP_001395405.1:p.Ser309Phefs frameshift NM_001408478.1:c.919dup NP_001395407.1:p.Ser307Phefs frameshift NM_001408479.1:c.919dup NP_001395408.1:p.Ser307Phefs frameshift NM_001408480.1:c.919dup NP_001395409.1:p.Ser307Phefs frameshift NM_001408481.1:c.916dup NP_001395410.1:p.Ser306Phefs frameshift NM_001408482.1:c.916dup NP_001395411.1:p.Ser306Phefs frameshift NM_001408483.1:c.916dup NP_001395412.1:p.Ser306Phefs frameshift NM_001408484.1:c.916dup NP_001395413.1:p.Ser306Phefs frameshift NM_001408485.1:c.916dup NP_001395414.1:p.Ser306Phefs frameshift NM_001408489.1:c.916dup NP_001395418.1:p.Ser306Phefs frameshift NM_001408490.1:c.916dup NP_001395419.1:p.Ser306Phefs frameshift NM_001408491.1:c.916dup NP_001395420.1:p.Ser306Phefs frameshift NM_001408492.1:c.913dup NP_001395421.1:p.Ser305Phefs frameshift NM_001408493.1:c.913dup NP_001395422.1:p.Ser305Phefs frameshift NM_001408494.1:c.889dup NP_001395423.1:p.Ser297Phefs frameshift NM_001408495.1:c.883dup NP_001395424.1:p.Ser295Phefs frameshift NM_001408496.1:c.865dup NP_001395425.1:p.Ser289Phefs frameshift NM_001408497.1:c.865dup NP_001395426.1:p.Ser289Phefs frameshift NM_001408498.1:c.865dup NP_001395427.1:p.Ser289Phefs frameshift NM_001408499.1:c.865dup NP_001395428.1:p.Ser289Phefs frameshift NM_001408500.1:c.865dup NP_001395429.1:p.Ser289Phefs frameshift NM_001408501.1:c.865dup NP_001395430.1:p.Ser289Phefs frameshift NM_001408502.1:c.862dup NP_001395431.1:p.Ser288Phefs frameshift NM_001408503.1:c.862dup NP_001395432.1:p.Ser288Phefs frameshift NM_001408504.1:c.862dup NP_001395433.1:p.Ser288Phefs frameshift NM_001408505.1:c.859dup NP_001395434.1:p.Ser287Phefs frameshift NM_001408506.1:c.802dup NP_001395435.1:p.Ser268Phefs frameshift NM_001408507.1:c.799dup NP_001395436.1:p.Ser267Phefs frameshift NM_001408508.1:c.790dup NP_001395437.1:p.Ser264Phefs frameshift NM_001408509.1:c.787dup NP_001395438.1:p.Ser263Phefs frameshift NM_001408510.1:c.748dup NP_001395439.1:p.Ser250Phefs frameshift NM_001408511.1:c.745dup NP_001395440.1:p.Ser249Phefs frameshift NM_001408512.1:c.625dup NP_001395441.1:p.Ser209Phefs frameshift NM_007297.4:c.4297dup NP_009228.2:p.Ser1433fs frameshift NM_007298.4:c.1126dup NP_009229.2:p.Ser376Phefs frameshift NM_007299.4:c.1126dup NP_009230.2:p.Ser376fs frameshift NM_007300.4:c.4501dup NP_009231.2:p.Ser1501fs frameshift NM_007304.2:c.1126dup NP_009235.2:p.Ser376Phefs frameshift NR_027676.2:n.4615dup non-coding transcript variant NC_000017.11:g.43076534dup NC_000017.10:g.41228551dup NG_005905.2:g.141450dup LRG_292:g.141450dup LRG_292t1:c.4438dup LRG_292p1:p.Ser1480Phefs - Protein change
- S1433fs, S1480fs, S1501fs, S376fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43076533:A:AA
-
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 |
13040 | 14846 | |
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
|
Jan 15, 2020 | RCV001182127.4 |
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
(Jan 15, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001347481.2
First in ClinVar: Jun 22, 2020 Last updated: Jan 12, 2022 |
Comment:
This variant inserts 1 nucleotide in exon 13 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant inserts 1 nucleotide in exon 13 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
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:
This variant inserts 1 nucleotide in exon 13 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
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 rs2052727486 ...
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 Dec 25, 2023
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.