This variant deletes 1 nucleotide in exon 14 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. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. 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.4650del (p.Ser1551fs)
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.4650del (p.Ser1551fs)
Variation ID: 2774831 Accession: VCV002774831.1
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074356 (GRCh38) [ NCBI UCSC ] 17: 41226373 (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 Feb 14, 2024 Feb 14, 2024 Aug 23, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4650del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1551fs frameshift NM_001407571.1:c.4437del NP_001394500.1:p.Ser1480fs frameshift NM_001407581.1:c.4716del NP_001394510.1:p.Ser1573fs frameshift NM_001407582.1:c.4716del NP_001394511.1:p.Ser1573fs frameshift NM_001407583.1:c.4713del NP_001394512.1:p.Ser1572fs frameshift NM_001407585.1:c.4713del NP_001394514.1:p.Ser1572fs frameshift NM_001407587.1:c.4713del NP_001394516.1:p.Ser1572fs frameshift NM_001407590.1:c.4710del NP_001394519.1:p.Ser1571fs frameshift NM_001407591.1:c.4710del NP_001394520.1:p.Ser1571fs frameshift NM_001407593.1:c.4650del NP_001394522.1:p.Ser1551fs frameshift NM_001407594.1:c.4650del NP_001394523.1:p.Ser1551fs frameshift NM_001407596.1:c.4650del NP_001394525.1:p.Ser1551fs frameshift NM_001407597.1:c.4650del NP_001394526.1:p.Ser1551fs frameshift NM_001407598.1:c.4650del NP_001394527.1:p.Ser1551fs frameshift NM_001407602.1:c.4650del NP_001394531.1:p.Ser1551fs frameshift NM_001407603.1:c.4650del NP_001394532.1:p.Ser1551fs frameshift NM_001407605.1:c.4650del NP_001394534.1:p.Ser1551fs frameshift NM_001407610.1:c.4647del NP_001394539.1:p.Ser1550fs frameshift NM_001407611.1:c.4647del NP_001394540.1:p.Ser1550fs frameshift NM_001407612.1:c.4647del NP_001394541.1:p.Ser1550fs frameshift NM_001407613.1:c.4647del NP_001394542.1:p.Ser1550fs frameshift NM_001407614.1:c.4647del NP_001394543.1:p.Ser1550fs frameshift NM_001407615.1:c.4647del NP_001394544.1:p.Ser1550fs frameshift NM_001407616.1:c.4647del NP_001394545.1:p.Ser1550fs frameshift NM_001407617.1:c.4647del NP_001394546.1:p.Ser1550fs frameshift NM_001407618.1:c.4647del NP_001394547.1:p.Ser1550fs frameshift NM_001407619.1:c.4647del NP_001394548.1:p.Ser1550fs frameshift NM_001407620.1:c.4647del NP_001394549.1:p.Ser1550fs frameshift NM_001407621.1:c.4647del NP_001394550.1:p.Ser1550fs frameshift NM_001407622.1:c.4647del NP_001394551.1:p.Ser1550fs frameshift NM_001407623.1:c.4647del NP_001394552.1:p.Ser1550fs frameshift NM_001407624.1:c.4647del NP_001394553.1:p.Ser1550fs frameshift NM_001407625.1:c.4647del NP_001394554.1:p.Ser1550fs frameshift NM_001407626.1:c.4647del NP_001394555.1:p.Ser1550fs frameshift NM_001407627.1:c.4644del NP_001394556.1:p.Ser1549fs frameshift NM_001407628.1:c.4644del NP_001394557.1:p.Ser1549fs frameshift NM_001407629.1:c.4644del NP_001394558.1:p.Ser1549fs frameshift NM_001407630.1:c.4644del NP_001394559.1:p.Ser1549fs frameshift NM_001407631.1:c.4644del NP_001394560.1:p.Ser1549fs frameshift NM_001407632.1:c.4644del NP_001394561.1:p.Ser1549fs frameshift NM_001407633.1:c.4644del NP_001394562.1:p.Ser1549fs frameshift NM_001407634.1:c.4644del NP_001394563.1:p.Ser1549fs frameshift NM_001407635.1:c.4644del NP_001394564.1:p.Ser1549fs frameshift NM_001407636.1:c.4644del NP_001394565.1:p.Ser1549fs frameshift NM_001407637.1:c.4644del NP_001394566.1:p.Ser1549fs frameshift NM_001407638.1:c.4644del NP_001394567.1:p.Ser1549fs frameshift NM_001407639.1:c.4644del NP_001394568.1:p.Ser1549fs frameshift NM_001407640.1:c.4644del NP_001394569.1:p.Ser1549fs frameshift NM_001407641.1:c.4644del NP_001394570.1:p.Ser1549fs frameshift NM_001407642.1:c.4644del NP_001394571.1:p.Ser1549fs frameshift NM_001407644.1:c.4641del NP_001394573.1:p.Ser1548fs frameshift NM_001407645.1:c.4641del NP_001394574.1:p.Ser1548fs frameshift NM_001407646.1:c.4638del NP_001394575.1:p.Ser1547fs frameshift NM_001407647.1:c.4635del NP_001394576.1:p.Ser1546fs frameshift NM_001407648.1:c.4593del NP_001394577.1:p.Ser1532fs frameshift NM_001407649.1:c.4590del NP_001394578.1:p.Ser1531fs frameshift NM_001407652.1:c.4650del NP_001394581.1:p.Ser1551fs frameshift NM_001407653.1:c.4572del NP_001394582.1:p.Ser1525fs frameshift NM_001407654.1:c.4572del NP_001394583.1:p.Ser1525fs frameshift NM_001407655.1:c.4572del NP_001394584.1:p.Ser1525fs frameshift NM_001407656.1:c.4569del NP_001394585.1:p.Ser1524fs frameshift NM_001407657.1:c.4569del NP_001394586.1:p.Ser1524fs frameshift NM_001407658.1:c.4569del NP_001394587.1:p.Ser1524fs frameshift NM_001407659.1:c.4566del NP_001394588.1:p.Ser1523fs frameshift NM_001407660.1:c.4566del NP_001394589.1:p.Ser1523fs frameshift NM_001407661.1:c.4566del NP_001394590.1:p.Ser1523fs frameshift NM_001407662.1:c.4566del NP_001394591.1:p.Ser1523fs frameshift NM_001407663.1:c.4566del NP_001394592.1:p.Ser1523fs frameshift NM_001407664.1:c.4527del NP_001394593.1:p.Ser1510fs frameshift NM_001407665.1:c.4527del NP_001394594.1:p.Ser1510fs frameshift NM_001407666.1:c.4527del NP_001394595.1:p.Ser1510fs frameshift NM_001407667.1:c.4527del NP_001394596.1:p.Ser1510fs frameshift NM_001407668.1:c.4527del NP_001394597.1:p.Ser1510fs frameshift NM_001407669.1:c.4527del NP_001394598.1:p.Ser1510fs frameshift NM_001407670.1:c.4524del NP_001394599.1:p.Ser1509fs frameshift NM_001407671.1:c.4524del NP_001394600.1:p.Ser1509fs frameshift NM_001407672.1:c.4524del NP_001394601.1:p.Ser1509fs frameshift NM_001407673.1:c.4524del NP_001394602.1:p.Ser1509fs frameshift NM_001407674.1:c.4524del NP_001394603.1:p.Ser1509fs frameshift NM_001407675.1:c.4524del NP_001394604.1:p.Ser1509fs frameshift NM_001407676.1:c.4524del NP_001394605.1:p.Ser1509fs frameshift NM_001407677.1:c.4524del NP_001394606.1:p.Ser1509fs frameshift NM_001407678.1:c.4524del NP_001394607.1:p.Ser1509fs frameshift NM_001407679.1:c.4524del NP_001394608.1:p.Ser1509fs frameshift NM_001407680.1:c.4524del NP_001394609.1:p.Ser1509fs frameshift NM_001407681.1:c.4521del NP_001394610.1:p.Ser1508fs frameshift NM_001407682.1:c.4521del NP_001394611.1:p.Ser1508fs frameshift NM_001407683.1:c.4521del NP_001394612.1:p.Ser1508fs frameshift NM_001407684.1:c.4650del NP_001394613.1:p.Ser1551fs frameshift NM_001407685.1:c.4521del NP_001394614.1:p.Ser1508fs frameshift NM_001407686.1:c.4521del NP_001394615.1:p.Ser1508fs frameshift NM_001407687.1:c.4521del NP_001394616.1:p.Ser1508fs frameshift NM_001407688.1:c.4521del NP_001394617.1:p.Ser1508fs frameshift NM_001407689.1:c.4521del NP_001394618.1:p.Ser1508fs frameshift NM_001407690.1:c.4518del NP_001394619.1:p.Ser1507fs frameshift NM_001407691.1:c.4518del NP_001394620.1:p.Ser1507fs frameshift NM_001407692.1:c.4509del NP_001394621.1:p.Ser1504fs frameshift NM_001407694.1:c.4509del NP_001394623.1:p.Ser1504fs frameshift NM_001407695.1:c.4509del NP_001394624.1:p.Ser1504fs frameshift NM_001407696.1:c.4509del NP_001394625.1:p.Ser1504fs frameshift NM_001407697.1:c.4509del NP_001394626.1:p.Ser1504fs frameshift NM_001407698.1:c.4509del NP_001394627.1:p.Ser1504fs frameshift NM_001407724.1:c.4509del NP_001394653.1:p.Ser1504fs frameshift NM_001407725.1:c.4509del NP_001394654.1:p.Ser1504fs frameshift NM_001407726.1:c.4509del NP_001394655.1:p.Ser1504fs frameshift NM_001407727.1:c.4509del NP_001394656.1:p.Ser1504fs frameshift NM_001407728.1:c.4509del NP_001394657.1:p.Ser1504fs frameshift NM_001407729.1:c.4509del NP_001394658.1:p.Ser1504fs frameshift NM_001407730.1:c.4509del NP_001394659.1:p.Ser1504fs frameshift NM_001407731.1:c.4509del NP_001394660.1:p.Ser1504fs frameshift NM_001407732.1:c.4506del NP_001394661.1:p.Ser1503fs frameshift NM_001407733.1:c.4506del NP_001394662.1:p.Ser1503fs frameshift NM_001407734.1:c.4506del NP_001394663.1:p.Ser1503fs frameshift NM_001407735.1:c.4506del NP_001394664.1:p.Ser1503fs frameshift NM_001407736.1:c.4506del NP_001394665.1:p.Ser1503fs frameshift NM_001407737.1:c.4506del NP_001394666.1:p.Ser1503fs frameshift NM_001407738.1:c.4506del NP_001394667.1:p.Ser1503fs frameshift NM_001407739.1:c.4506del NP_001394668.1:p.Ser1503fs frameshift NM_001407740.1:c.4506del NP_001394669.1:p.Ser1503fs frameshift NM_001407741.1:c.4506del NP_001394670.1:p.Ser1503fs frameshift NM_001407742.1:c.4506del NP_001394671.1:p.Ser1503fs frameshift NM_001407743.1:c.4506del NP_001394672.1:p.Ser1503fs frameshift NM_001407744.1:c.4506del NP_001394673.1:p.Ser1503fs frameshift NM_001407745.1:c.4506del NP_001394674.1:p.Ser1503fs frameshift NM_001407746.1:c.4506del NP_001394675.1:p.Ser1503fs frameshift NM_001407747.1:c.4506del NP_001394676.1:p.Ser1503fs frameshift NM_001407748.1:c.4506del NP_001394677.1:p.Ser1503fs frameshift NM_001407749.1:c.4506del NP_001394678.1:p.Ser1503fs frameshift NM_001407750.1:c.4506del NP_001394679.1:p.Ser1503fs frameshift NM_001407751.1:c.4506del NP_001394680.1:p.Ser1503fs frameshift NM_001407752.1:c.4506del NP_001394681.1:p.Ser1503fs frameshift NM_001407838.1:c.4503del NP_001394767.1:p.Ser1502fs frameshift NM_001407839.1:c.4503del NP_001394768.1:p.Ser1502fs frameshift NM_001407841.1:c.4503del NP_001394770.1:p.Ser1502fs frameshift NM_001407842.1:c.4503del NP_001394771.1:p.Ser1502fs frameshift NM_001407843.1:c.4503del NP_001394772.1:p.Ser1502fs frameshift NM_001407844.1:c.4503del NP_001394773.1:p.Ser1502fs frameshift NM_001407845.1:c.4503del NP_001394774.1:p.Ser1502fs frameshift NM_001407846.1:c.4503del NP_001394775.1:p.Ser1502fs frameshift NM_001407847.1:c.4503del NP_001394776.1:p.Ser1502fs frameshift NM_001407848.1:c.4503del NP_001394777.1:p.Ser1502fs frameshift NM_001407849.1:c.4503del NP_001394778.1:p.Ser1502fs frameshift NM_001407850.1:c.4503del NP_001394779.1:p.Ser1502fs frameshift NM_001407851.1:c.4503del NP_001394780.1:p.Ser1502fs frameshift NM_001407852.1:c.4503del NP_001394781.1:p.Ser1502fs frameshift NM_001407853.1:c.4503del NP_001394782.1:p.Ser1502fs frameshift NM_001407854.1:c.4650del NP_001394783.1:p.Ser1551fs frameshift NM_001407858.1:c.4647del NP_001394787.1:p.Ser1550fs frameshift NM_001407859.1:c.4647del NP_001394788.1:p.Ser1550fs frameshift NM_001407860.1:c.4647del NP_001394789.1:p.Ser1550fs frameshift NM_001407861.1:c.4644del NP_001394790.1:p.Ser1549fs frameshift NM_001407862.1:c.4449del NP_001394791.1:p.Ser1484fs frameshift NM_001407863.1:c.4524del NP_001394792.1:p.Ser1509fs frameshift NM_001407874.1:c.4443del NP_001394803.1:p.Ser1482fs frameshift NM_001407875.1:c.4443del NP_001394804.1:p.Ser1482fs frameshift NM_001407879.1:c.4440del NP_001394808.1:p.Ser1481fs frameshift NM_001407881.1:c.4440del NP_001394810.1:p.Ser1481fs frameshift NM_001407882.1:c.4440del NP_001394811.1:p.Ser1481fs frameshift NM_001407884.1:c.4440del NP_001394813.1:p.Ser1481fs frameshift NM_001407885.1:c.4440del NP_001394814.1:p.Ser1481fs frameshift NM_001407886.1:c.4440del NP_001394815.1:p.Ser1481fs frameshift NM_001407887.1:c.4440del NP_001394816.1:p.Ser1481fs frameshift NM_001407889.1:c.4440del NP_001394818.1:p.Ser1481fs frameshift NM_001407894.1:c.4437del NP_001394823.1:p.Ser1480fs frameshift NM_001407895.1:c.4437del NP_001394824.1:p.Ser1480fs frameshift NM_001407896.1:c.4437del NP_001394825.1:p.Ser1480fs frameshift NM_001407897.1:c.4437del NP_001394826.1:p.Ser1480fs frameshift NM_001407898.1:c.4437del NP_001394827.1:p.Ser1480fs frameshift NM_001407899.1:c.4437del NP_001394828.1:p.Ser1480fs frameshift NM_001407900.1:c.4437del NP_001394829.1:p.Ser1480fs frameshift NM_001407902.1:c.4437del NP_001394831.1:p.Ser1480fs frameshift NM_001407904.1:c.4437del NP_001394833.1:p.Ser1480fs frameshift NM_001407906.1:c.4437del NP_001394835.1:p.Ser1480fs frameshift NM_001407907.1:c.4437del NP_001394836.1:p.Ser1480fs frameshift NM_001407908.1:c.4437del NP_001394837.1:p.Ser1480fs frameshift NM_001407909.1:c.4437del NP_001394838.1:p.Ser1480fs frameshift NM_001407910.1:c.4437del NP_001394839.1:p.Ser1480fs frameshift NM_001407915.1:c.4434del NP_001394844.1:p.Ser1479fs frameshift NM_001407916.1:c.4434del NP_001394845.1:p.Ser1479fs frameshift NM_001407917.1:c.4434del NP_001394846.1:p.Ser1479fs frameshift NM_001407918.1:c.4434del NP_001394847.1:p.Ser1479fs frameshift NM_001407919.1:c.4527del NP_001394848.1:p.Ser1510fs frameshift NM_001407920.1:c.4386del NP_001394849.1:p.Ser1463fs frameshift NM_001407921.1:c.4386del NP_001394850.1:p.Ser1463fs frameshift NM_001407922.1:c.4386del NP_001394851.1:p.Ser1463fs frameshift NM_001407923.1:c.4386del NP_001394852.1:p.Ser1463fs frameshift NM_001407924.1:c.4386del NP_001394853.1:p.Ser1463fs frameshift NM_001407925.1:c.4386del NP_001394854.1:p.Ser1463fs frameshift NM_001407926.1:c.4386del NP_001394855.1:p.Ser1463fs frameshift NM_001407927.1:c.4383del NP_001394856.1:p.Ser1462fs frameshift NM_001407928.1:c.4383del NP_001394857.1:p.Ser1462fs frameshift NM_001407929.1:c.4383del NP_001394858.1:p.Ser1462fs frameshift NM_001407930.1:c.4383del NP_001394859.1:p.Ser1462fs frameshift NM_001407931.1:c.4383del NP_001394860.1:p.Ser1462fs frameshift NM_001407932.1:c.4383del NP_001394861.1:p.Ser1462fs frameshift NM_001407933.1:c.4383del NP_001394862.1:p.Ser1462fs frameshift NM_001407934.1:c.4380del NP_001394863.1:p.Ser1461fs frameshift NM_001407935.1:c.4380del NP_001394864.1:p.Ser1461fs frameshift NM_001407936.1:c.4380del NP_001394865.1:p.Ser1461fs frameshift NM_001407937.1:c.4527del NP_001394866.1:p.Ser1510fs frameshift NM_001407938.1:c.4527del NP_001394867.1:p.Ser1510fs frameshift NM_001407939.1:c.4524del NP_001394868.1:p.Ser1509fs frameshift NM_001407940.1:c.4524del NP_001394869.1:p.Ser1509fs frameshift NM_001407941.1:c.4521del NP_001394870.1:p.Ser1508fs frameshift NM_001407942.1:c.4509del NP_001394871.1:p.Ser1504fs frameshift NM_001407943.1:c.4506del NP_001394872.1:p.Ser1503fs frameshift NM_001407944.1:c.4506del NP_001394873.1:p.Ser1503fs frameshift NM_001407945.1:c.4506del NP_001394874.1:p.Ser1503fs frameshift NM_001407946.1:c.4317del NP_001394875.1:p.Ser1440fs frameshift NM_001407947.1:c.4317del NP_001394876.1:p.Ser1440fs frameshift NM_001407948.1:c.4317del NP_001394877.1:p.Ser1440fs frameshift NM_001407949.1:c.4317del NP_001394878.1:p.Ser1440fs frameshift NM_001407950.1:c.4314del NP_001394879.1:p.Ser1439fs frameshift NM_001407951.1:c.4314del NP_001394880.1:p.Ser1439fs frameshift NM_001407952.1:c.4314del NP_001394881.1:p.Ser1439fs frameshift NM_001407953.1:c.4314del NP_001394882.1:p.Ser1439fs frameshift NM_001407954.1:c.4314del NP_001394883.1:p.Ser1439fs frameshift NM_001407955.1:c.4314del NP_001394884.1:p.Ser1439fs frameshift NM_001407956.1:c.4311del NP_001394885.1:p.Ser1438fs frameshift NM_001407957.1:c.4311del NP_001394886.1:p.Ser1438fs frameshift NM_001407958.1:c.4311del NP_001394887.1:p.Ser1438fs frameshift NM_001407959.1:c.4269del NP_001394888.1:p.Ser1424fs frameshift NM_001407960.1:c.4266del NP_001394889.1:p.Ser1423fs frameshift NM_001407962.1:c.4266del NP_001394891.1:p.Ser1423fs frameshift NM_001407963.1:c.4263del NP_001394892.1:p.Ser1422fs frameshift NM_001407964.1:c.4214-3118del intron variant NM_001407965.1:c.4143del NP_001394894.1:p.Ser1382fs frameshift NM_001407966.1:c.3762del NP_001394895.1:p.Ser1255fs frameshift NM_001407967.1:c.3759del NP_001394896.1:p.Ser1254fs frameshift NM_001407968.1:c.2046del NP_001394897.1:p.Ser683fs frameshift NM_001407969.1:c.2043del NP_001394898.1:p.Ser682fs frameshift NM_001407970.1:c.1407del NP_001394899.1:p.Ser470fs frameshift NM_001407971.1:c.1407del NP_001394900.1:p.Ser470fs frameshift NM_001407972.1:c.1404del NP_001394901.1:p.Ser469fs frameshift NM_001407973.1:c.1341del NP_001394902.1:p.Ser448fs frameshift NM_001407974.1:c.1341del NP_001394903.1:p.Ser448fs frameshift NM_001407975.1:c.1341del NP_001394904.1:p.Ser448fs frameshift NM_001407976.1:c.1341del NP_001394905.1:p.Ser448fs frameshift NM_001407977.1:c.1341del NP_001394906.1:p.Ser448fs frameshift NM_001407978.1:c.1341del NP_001394907.1:p.Ser448fs frameshift NM_001407979.1:c.1338del NP_001394908.1:p.Ser447fs frameshift NM_001407980.1:c.1338del NP_001394909.1:p.Ser447fs frameshift NM_001407981.1:c.1338del NP_001394910.1:p.Ser447fs frameshift NM_001407982.1:c.1338del NP_001394911.1:p.Ser447fs frameshift NM_001407983.1:c.1338del NP_001394912.1:p.Ser447fs frameshift NM_001407984.1:c.1338del NP_001394913.1:p.Ser447fs frameshift NM_001407985.1:c.1338del NP_001394914.1:p.Ser447fs frameshift NM_001407986.1:c.1338del NP_001394915.1:p.Ser447fs frameshift NM_001407990.1:c.1338del NP_001394919.1:p.Ser447fs frameshift NM_001407991.1:c.1338del NP_001394920.1:p.Ser447fs frameshift NM_001407992.1:c.1338del NP_001394921.1:p.Ser447fs frameshift NM_001407993.1:c.1338del NP_001394922.1:p.Ser447fs frameshift NM_001408392.1:c.1335del NP_001395321.1:p.Ser446fs frameshift NM_001408396.1:c.1335del NP_001395325.1:p.Ser446fs frameshift NM_001408397.1:c.1335del NP_001395326.1:p.Ser446fs frameshift NM_001408398.1:c.1335del NP_001395327.1:p.Ser446fs frameshift NM_001408399.1:c.1335del NP_001395328.1:p.Ser446fs frameshift NM_001408400.1:c.1335del NP_001395329.1:p.Ser446fs frameshift NM_001408401.1:c.1335del NP_001395330.1:p.Ser446fs frameshift NM_001408402.1:c.1335del NP_001395331.1:p.Ser446fs frameshift NM_001408403.1:c.1335del NP_001395332.1:p.Ser446fs frameshift NM_001408404.1:c.1335del NP_001395333.1:p.Ser446fs frameshift NM_001408406.1:c.1332del NP_001395335.1:p.Ser445fs frameshift NM_001408407.1:c.1332del NP_001395336.1:p.Ser445fs frameshift NM_001408408.1:c.1332del NP_001395337.1:p.Ser445fs frameshift NM_001408409.1:c.1329del NP_001395338.1:p.Ser444fs frameshift NM_001408410.1:c.1266del NP_001395339.1:p.Ser423fs frameshift NM_001408411.1:c.1263del NP_001395340.1:p.Ser422fs frameshift NM_001408412.1:c.1260del NP_001395341.1:p.Ser421fs frameshift NM_001408413.1:c.1260del NP_001395342.1:p.Ser421fs frameshift NM_001408414.1:c.1260del NP_001395343.1:p.Ser421fs frameshift NM_001408415.1:c.1260del NP_001395344.1:p.Ser421fs frameshift NM_001408416.1:c.1260del NP_001395345.1:p.Ser421fs frameshift NM_001408418.1:c.1224del NP_001395347.1:p.Ser409fs frameshift NM_001408419.1:c.1224del NP_001395348.1:p.Ser409fs frameshift NM_001408420.1:c.1224del NP_001395349.1:p.Ser409fs frameshift NM_001408421.1:c.1221del NP_001395350.1:p.Ser408fs frameshift NM_001408422.1:c.1221del NP_001395351.1:p.Ser408fs frameshift NM_001408423.1:c.1221del NP_001395352.1:p.Ser408fs frameshift NM_001408424.1:c.1221del NP_001395353.1:p.Ser408fs frameshift NM_001408425.1:c.1218del NP_001395354.1:p.Ser407fs frameshift NM_001408426.1:c.1218del NP_001395355.1:p.Ser407fs frameshift NM_001408427.1:c.1218del NP_001395356.1:p.Ser407fs frameshift NM_001408428.1:c.1218del NP_001395357.1:p.Ser407fs frameshift NM_001408429.1:c.1218del NP_001395358.1:p.Ser407fs frameshift NM_001408430.1:c.1218del NP_001395359.1:p.Ser407fs frameshift NM_001408431.1:c.1218del NP_001395360.1:p.Ser407fs frameshift NM_001408432.1:c.1215del NP_001395361.1:p.Ser406fs frameshift NM_001408433.1:c.1215del NP_001395362.1:p.Ser406fs frameshift NM_001408434.1:c.1215del NP_001395363.1:p.Ser406fs frameshift NM_001408435.1:c.1215del NP_001395364.1:p.Ser406fs frameshift NM_001408436.1:c.1215del NP_001395365.1:p.Ser406fs frameshift NM_001408437.1:c.1215del NP_001395366.1:p.Ser406fs frameshift NM_001408438.1:c.1215del NP_001395367.1:p.Ser406fs frameshift NM_001408439.1:c.1215del NP_001395368.1:p.Ser406fs frameshift NM_001408440.1:c.1215del NP_001395369.1:p.Ser406fs frameshift NM_001408441.1:c.1215del NP_001395370.1:p.Ser406fs frameshift NM_001408442.1:c.1215del NP_001395371.1:p.Ser406fs frameshift NM_001408443.1:c.1215del NP_001395372.1:p.Ser406fs frameshift NM_001408444.1:c.1215del NP_001395373.1:p.Ser406fs frameshift NM_001408445.1:c.1212del NP_001395374.1:p.Ser405fs frameshift NM_001408446.1:c.1212del NP_001395375.1:p.Ser405fs frameshift NM_001408447.1:c.1212del NP_001395376.1:p.Ser405fs frameshift NM_001408448.1:c.1212del NP_001395377.1:p.Ser405fs frameshift NM_001408450.1:c.1212del NP_001395379.1:p.Ser405fs frameshift NM_001408451.1:c.1206del NP_001395380.1:p.Ser403fs frameshift NM_001408452.1:c.1200del NP_001395381.1:p.Ser401fs frameshift NM_001408453.1:c.1200del NP_001395382.1:p.Ser401fs frameshift NM_001408454.1:c.1200del NP_001395383.1:p.Ser401fs frameshift NM_001408455.1:c.1200del NP_001395384.1:p.Ser401fs frameshift NM_001408456.1:c.1200del NP_001395385.1:p.Ser401fs frameshift NM_001408457.1:c.1200del NP_001395386.1:p.Ser401fs frameshift NM_001408458.1:c.1197del NP_001395387.1:p.Ser400fs frameshift NM_001408459.1:c.1197del NP_001395388.1:p.Ser400fs frameshift NM_001408460.1:c.1197del NP_001395389.1:p.Ser400fs frameshift NM_001408461.1:c.1197del NP_001395390.1:p.Ser400fs frameshift NM_001408462.1:c.1197del NP_001395391.1:p.Ser400fs frameshift NM_001408463.1:c.1197del NP_001395392.1:p.Ser400fs frameshift NM_001408464.1:c.1197del NP_001395393.1:p.Ser400fs frameshift NM_001408465.1:c.1197del NP_001395394.1:p.Ser400fs frameshift NM_001408466.1:c.1197del NP_001395395.1:p.Ser400fs frameshift NM_001408467.1:c.1197del NP_001395396.1:p.Ser400fs frameshift NM_001408468.1:c.1194del NP_001395397.1:p.Ser399fs frameshift NM_001408469.1:c.1194del NP_001395398.1:p.Ser399fs frameshift NM_001408470.1:c.1194del NP_001395399.1:p.Ser399fs frameshift NM_001408472.1:c.1338del NP_001395401.1:p.Ser447fs frameshift NM_001408473.1:c.1335del NP_001395402.1:p.Ser446fs frameshift NM_001408474.1:c.1140del NP_001395403.1:p.Ser381fs frameshift NM_001408475.1:c.1137del NP_001395404.1:p.Ser380fs frameshift NM_001408476.1:c.1137del NP_001395405.1:p.Ser380fs frameshift NM_001408478.1:c.1131del NP_001395407.1:p.Ser378fs frameshift NM_001408479.1:c.1131del NP_001395408.1:p.Ser378fs frameshift NM_001408480.1:c.1131del NP_001395409.1:p.Ser378fs frameshift NM_001408481.1:c.1128del NP_001395410.1:p.Ser377fs frameshift NM_001408482.1:c.1128del NP_001395411.1:p.Ser377fs frameshift NM_001408483.1:c.1128del NP_001395412.1:p.Ser377fs frameshift NM_001408484.1:c.1128del NP_001395413.1:p.Ser377fs frameshift NM_001408485.1:c.1128del NP_001395414.1:p.Ser377fs frameshift NM_001408489.1:c.1128del NP_001395418.1:p.Ser377fs frameshift NM_001408490.1:c.1128del NP_001395419.1:p.Ser377fs frameshift NM_001408491.1:c.1128del NP_001395420.1:p.Ser377fs frameshift NM_001408492.1:c.1125del NP_001395421.1:p.Ser376fs frameshift NM_001408493.1:c.1125del NP_001395422.1:p.Ser376fs frameshift NM_001408494.1:c.1101del NP_001395423.1:p.Ser368fs frameshift NM_001408495.1:c.1095del NP_001395424.1:p.Ser366fs frameshift NM_001408496.1:c.1077del NP_001395425.1:p.Ser360fs frameshift NM_001408497.1:c.1077del NP_001395426.1:p.Ser360fs frameshift NM_001408498.1:c.1077del NP_001395427.1:p.Ser360fs frameshift NM_001408499.1:c.1077del NP_001395428.1:p.Ser360fs frameshift NM_001408500.1:c.1077del NP_001395429.1:p.Ser360fs frameshift NM_001408501.1:c.1077del NP_001395430.1:p.Ser360fs frameshift NM_001408502.1:c.1074del NP_001395431.1:p.Ser359fs frameshift NM_001408503.1:c.1074del NP_001395432.1:p.Ser359fs frameshift NM_001408504.1:c.1074del NP_001395433.1:p.Ser359fs frameshift NM_001408505.1:c.1071del NP_001395434.1:p.Ser358fs frameshift NM_001408506.1:c.1014del NP_001395435.1:p.Ser339fs frameshift NM_001408507.1:c.1011del NP_001395436.1:p.Ser338fs frameshift NM_001408508.1:c.1002del NP_001395437.1:p.Ser335fs frameshift NM_001408509.1:c.999del NP_001395438.1:p.Ser334fs frameshift NM_001408510.1:c.960del NP_001395439.1:p.Ser321fs frameshift NM_001408511.1:c.957del NP_001395440.1:p.Ser320fs frameshift NM_001408512.1:c.837del NP_001395441.1:p.Ser280fs frameshift NM_001408513.1:c.836-3118del intron variant NM_001408514.1:c.838+8048del intron variant NM_007297.4:c.4509del NP_009228.2:p.Ser1504fs frameshift NM_007298.4:c.1338del NP_009229.2:p.Ser447fs frameshift NM_007299.4:c.1338del NP_009230.2:p.Ser447fs frameshift NM_007300.4:c.4713del NP_009231.2:p.Ser1572fs frameshift NM_007304.2:c.1338delA NP_009235.2:p.Ser447Leufs frameshift NR_027676.2:n.4827delA NC_000017.11:g.43074356del NC_000017.10:g.41226373del NG_005905.2:g.143628del LRG_292:g.143628del LRG_292t1:c.4650del LRG_292p1:p.Ser1551Leufs - Protein change
- S1255fs, S1424fs, S1461fs, S1480fs, S1502fs, S1508fs, S1532fs, S280fs, S358fs, S360fs, S368fs, S380fs, S405fs, S408fs, S409fs, S421fs, S444fs, S469fs, S682fs, S1422fs, S1440fs, S1479fs, S1482fs, S1503fs, S1509fs, S1510fs, S1524fs, S1525fs, S1531fs, S1548fs, S1571fs, S321fs, S334fs, S377fs, S400fs, S403fs, S407fs, S448fs, S1254fs, S1382fs, S1423fs, S1439fs, S1462fs, S1463fs, S1481fs, S1546fs, S1550fs, S1551fs, S1573fs, S320fs, S339fs, S359fs, S366fs, S378fs, S399fs, S422fs, S423fs, S445fs, S447fs, S1438fs, S1484fs, S1504fs, S1507fs, S1523fs, S1547fs, S1549fs, S1572fs, S335fs, S338fs, S376fs, S381fs, S401fs, S406fs, S446fs, S470fs, S683fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074355: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 |
13044 | 14850 | |
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
|
Aug 23, 2021 | RCV003586016.1 |
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
(Aug 23, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV004360161.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 1 nucleotide in exon 14 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 1 nucleotide in exon 14 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. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. 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 deletes 1 nucleotide in exon 14 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. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. 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 this variant ...
HelpRecord last updated Feb 20, 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.