Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4724del (p.Pro1575fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Oct 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4724del (p.Pro1575fs)
Variation ID: 55271 Accession: VCV000055271.17
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071190 (GRCh38) [ NCBI UCSC ] 17: 41223207 (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 Oct 22, 2016 May 1, 2024 Oct 18, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4724del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Pro1575fs frameshift NM_001407571.1:c.4509delC NP_001394500.1:p.Pro1504Leufs frameshift NM_001407581.1:c.4788delC NP_001394510.1:p.Pro1597Leufs frameshift NM_001407582.1:c.4788delC NP_001394511.1:p.Pro1597Leufs frameshift NM_001407583.1:c.4785delC NP_001394512.1:p.Pro1596Leufs frameshift NM_001407585.1:c.4785delC NP_001394514.1:p.Pro1596Leufs frameshift NM_001407587.1:c.4785delC NP_001394516.1:p.Pro1596Leufs frameshift NM_001407590.1:c.4782delC NP_001394519.1:p.Pro1595Leufs frameshift NM_001407591.1:c.4782delC NP_001394520.1:p.Pro1595Leufs frameshift NM_001407593.1:c.4722delC NP_001394522.1:p.Pro1575Leufs frameshift NM_001407594.1:c.4722delC NP_001394523.1:p.Pro1575Leufs frameshift NM_001407596.1:c.4722delC NP_001394525.1:p.Pro1575Leufs frameshift NM_001407597.1:c.4722delC NP_001394526.1:p.Pro1575Leufs frameshift NM_001407598.1:c.4722delC NP_001394527.1:p.Pro1575Leufs frameshift NM_001407602.1:c.4722delC NP_001394531.1:p.Pro1575Leufs frameshift NM_001407603.1:c.4722delC NP_001394532.1:p.Pro1575Leufs frameshift NM_001407605.1:c.4722delC NP_001394534.1:p.Pro1575Leufs frameshift NM_001407610.1:c.4719delC NP_001394539.1:p.Pro1574Leufs frameshift NM_001407611.1:c.4719delC NP_001394540.1:p.Pro1574Leufs frameshift NM_001407612.1:c.4719delC NP_001394541.1:p.Pro1574Leufs frameshift NM_001407613.1:c.4719delC NP_001394542.1:p.Pro1574Leufs frameshift NM_001407614.1:c.4719delC NP_001394543.1:p.Pro1574Leufs frameshift NM_001407615.1:c.4719delC NP_001394544.1:p.Pro1574Leufs frameshift NM_001407616.1:c.4719delC NP_001394545.1:p.Pro1574Leufs frameshift NM_001407617.1:c.4719delC NP_001394546.1:p.Pro1574Leufs frameshift NM_001407618.1:c.4719delC NP_001394547.1:p.Pro1574Leufs frameshift NM_001407619.1:c.4719delC NP_001394548.1:p.Pro1574Leufs frameshift NM_001407620.1:c.4719delC NP_001394549.1:p.Pro1574Leufs frameshift NM_001407621.1:c.4719delC NP_001394550.1:p.Pro1574Leufs frameshift NM_001407622.1:c.4719delC NP_001394551.1:p.Pro1574Leufs frameshift NM_001407623.1:c.4719delC NP_001394552.1:p.Pro1574Leufs frameshift NM_001407624.1:c.4719delC NP_001394553.1:p.Pro1574Leufs frameshift NM_001407625.1:c.4719delC NP_001394554.1:p.Pro1574Leufs frameshift NM_001407626.1:c.4719delC NP_001394555.1:p.Pro1574Leufs frameshift NM_001407627.1:c.4716delC NP_001394556.1:p.Pro1573Leufs frameshift NM_001407628.1:c.4716delC NP_001394557.1:p.Pro1573Leufs frameshift NM_001407629.1:c.4716delC NP_001394558.1:p.Pro1573Leufs frameshift NM_001407630.1:c.4716delC NP_001394559.1:p.Pro1573Leufs frameshift NM_001407631.1:c.4716delC NP_001394560.1:p.Pro1573Leufs frameshift NM_001407632.1:c.4716delC NP_001394561.1:p.Pro1573Leufs frameshift NM_001407633.1:c.4716delC NP_001394562.1:p.Pro1573Leufs frameshift NM_001407634.1:c.4716delC NP_001394563.1:p.Pro1573Leufs frameshift NM_001407635.1:c.4716delC NP_001394564.1:p.Pro1573Leufs frameshift NM_001407636.1:c.4716delC NP_001394565.1:p.Pro1573Leufs frameshift NM_001407637.1:c.4716delC NP_001394566.1:p.Pro1573Leufs frameshift NM_001407638.1:c.4716delC NP_001394567.1:p.Pro1573Leufs frameshift NM_001407639.1:c.4716delC NP_001394568.1:p.Pro1573Leufs frameshift NM_001407640.1:c.4716delC NP_001394569.1:p.Pro1573Leufs frameshift NM_001407641.1:c.4716delC NP_001394570.1:p.Pro1573Leufs frameshift NM_001407642.1:c.4716delC NP_001394571.1:p.Pro1573Leufs frameshift NM_001407644.1:c.4713delC NP_001394573.1:p.Pro1572Leufs frameshift NM_001407645.1:c.4713delC NP_001394574.1:p.Pro1572Leufs frameshift NM_001407646.1:c.4710delC NP_001394575.1:p.Pro1571Leufs frameshift NM_001407647.1:c.4707delC NP_001394576.1:p.Pro1570Leufs frameshift NM_001407648.1:c.4665delC NP_001394577.1:p.Pro1556Leufs frameshift NM_001407649.1:c.4662delC NP_001394578.1:p.Pro1555Leufs frameshift NM_001407652.1:c.4722delC NP_001394581.1:p.Pro1575Leufs frameshift NM_001407653.1:c.4644delC NP_001394582.1:p.Pro1549Leufs frameshift NM_001407654.1:c.4644delC NP_001394583.1:p.Pro1549Leufs frameshift NM_001407655.1:c.4644delC NP_001394584.1:p.Pro1549Leufs frameshift NM_001407656.1:c.4641delC NP_001394585.1:p.Pro1548Leufs frameshift NM_001407657.1:c.4641delC NP_001394586.1:p.Pro1548Leufs frameshift NM_001407658.1:c.4641delC NP_001394587.1:p.Pro1548Leufs frameshift NM_001407659.1:c.4638delC NP_001394588.1:p.Pro1547Leufs frameshift NM_001407660.1:c.4638delC NP_001394589.1:p.Pro1547Leufs frameshift NM_001407661.1:c.4638delC NP_001394590.1:p.Pro1547Leufs frameshift NM_001407662.1:c.4638delC NP_001394591.1:p.Pro1547Leufs frameshift NM_001407663.1:c.4638delC NP_001394592.1:p.Pro1547Leufs frameshift NM_001407664.1:c.4599delC NP_001394593.1:p.Pro1534Leufs frameshift NM_001407665.1:c.4599delC NP_001394594.1:p.Pro1534Leufs frameshift NM_001407666.1:c.4599delC NP_001394595.1:p.Pro1534Leufs frameshift NM_001407667.1:c.4599delC NP_001394596.1:p.Pro1534Leufs frameshift NM_001407668.1:c.4599delC NP_001394597.1:p.Pro1534Leufs frameshift NM_001407669.1:c.4599delC NP_001394598.1:p.Pro1534Leufs frameshift NM_001407670.1:c.4596delC NP_001394599.1:p.Pro1533Leufs frameshift NM_001407671.1:c.4596delC NP_001394600.1:p.Pro1533Leufs frameshift NM_001407672.1:c.4596delC NP_001394601.1:p.Pro1533Leufs frameshift NM_001407673.1:c.4596delC NP_001394602.1:p.Pro1533Leufs frameshift NM_001407674.1:c.4596delC NP_001394603.1:p.Pro1533Leufs frameshift NM_001407675.1:c.4596delC NP_001394604.1:p.Pro1533Leufs frameshift NM_001407676.1:c.4596delC NP_001394605.1:p.Pro1533Leufs frameshift NM_001407677.1:c.4596delC NP_001394606.1:p.Pro1533Leufs frameshift NM_001407678.1:c.4596delC NP_001394607.1:p.Pro1533Leufs frameshift NM_001407679.1:c.4596delC NP_001394608.1:p.Pro1533Leufs frameshift NM_001407680.1:c.4596delC NP_001394609.1:p.Pro1533Leufs frameshift NM_001407681.1:c.4593delC NP_001394610.1:p.Pro1532Leufs frameshift NM_001407682.1:c.4593delC NP_001394611.1:p.Pro1532Leufs frameshift NM_001407683.1:c.4593delC NP_001394612.1:p.Pro1532Leufs frameshift NM_001407684.1:c.4722delC NP_001394613.1:p.Pro1575Leufs frameshift NM_001407685.1:c.4593delC NP_001394614.1:p.Pro1532Leufs frameshift NM_001407686.1:c.4593delC NP_001394615.1:p.Pro1532Leufs frameshift NM_001407687.1:c.4593delC NP_001394616.1:p.Pro1532Leufs frameshift NM_001407688.1:c.4593delC NP_001394617.1:p.Pro1532Leufs frameshift NM_001407689.1:c.4593delC NP_001394618.1:p.Pro1532Leufs frameshift NM_001407690.1:c.4590delC NP_001394619.1:p.Pro1531Leufs frameshift NM_001407691.1:c.4590delC NP_001394620.1:p.Pro1531Leufs frameshift NM_001407692.1:c.4581delC NP_001394621.1:p.Pro1528Leufs frameshift NM_001407694.1:c.4581delC NP_001394623.1:p.Pro1528Leufs frameshift NM_001407695.1:c.4581delC NP_001394624.1:p.Pro1528Leufs frameshift NM_001407696.1:c.4581delC NP_001394625.1:p.Pro1528Leufs frameshift NM_001407697.1:c.4581delC NP_001394626.1:p.Pro1528Leufs frameshift NM_001407698.1:c.4581delC NP_001394627.1:p.Pro1528Leufs frameshift NM_001407724.1:c.4581delC NP_001394653.1:p.Pro1528Leufs frameshift NM_001407725.1:c.4581delC NP_001394654.1:p.Pro1528Leufs frameshift NM_001407726.1:c.4581delC NP_001394655.1:p.Pro1528Leufs frameshift NM_001407727.1:c.4581delC NP_001394656.1:p.Pro1528Leufs frameshift NM_001407728.1:c.4581delC NP_001394657.1:p.Pro1528Leufs frameshift NM_001407729.1:c.4581delC NP_001394658.1:p.Pro1528Leufs frameshift NM_001407730.1:c.4581delC NP_001394659.1:p.Pro1528Leufs frameshift NM_001407731.1:c.4581delC NP_001394660.1:p.Pro1528Leufs frameshift NM_001407732.1:c.4578delC NP_001394661.1:p.Pro1527Leufs frameshift NM_001407733.1:c.4578delC NP_001394662.1:p.Pro1527Leufs frameshift NM_001407734.1:c.4578delC NP_001394663.1:p.Pro1527Leufs frameshift NM_001407735.1:c.4578delC NP_001394664.1:p.Pro1527Leufs frameshift NM_001407736.1:c.4578delC NP_001394665.1:p.Pro1527Leufs frameshift NM_001407737.1:c.4578delC NP_001394666.1:p.Pro1527Leufs frameshift NM_001407738.1:c.4578delC NP_001394667.1:p.Pro1527Leufs frameshift NM_001407739.1:c.4578delC NP_001394668.1:p.Pro1527Leufs frameshift NM_001407740.1:c.4578delC NP_001394669.1:p.Pro1527Leufs frameshift NM_001407741.1:c.4578delC NP_001394670.1:p.Pro1527Leufs frameshift NM_001407742.1:c.4578delC NP_001394671.1:p.Pro1527Leufs frameshift NM_001407743.1:c.4578delC NP_001394672.1:p.Pro1527Leufs frameshift NM_001407744.1:c.4578delC NP_001394673.1:p.Pro1527Leufs frameshift NM_001407745.1:c.4578delC NP_001394674.1:p.Pro1527Leufs frameshift NM_001407746.1:c.4578delC NP_001394675.1:p.Pro1527Leufs frameshift NM_001407747.1:c.4578delC NP_001394676.1:p.Pro1527Leufs frameshift NM_001407748.1:c.4578delC NP_001394677.1:p.Pro1527Leufs frameshift NM_001407749.1:c.4578delC NP_001394678.1:p.Pro1527Leufs frameshift NM_001407750.1:c.4578delC NP_001394679.1:p.Pro1527Leufs frameshift NM_001407751.1:c.4578delC NP_001394680.1:p.Pro1527Leufs frameshift NM_001407752.1:c.4578delC NP_001394681.1:p.Pro1527Leufs frameshift NM_001407838.1:c.4575delC NP_001394767.1:p.Pro1526Leufs frameshift NM_001407839.1:c.4575delC NP_001394768.1:p.Pro1526Leufs frameshift NM_001407841.1:c.4575delC NP_001394770.1:p.Pro1526Leufs frameshift NM_001407842.1:c.4575delC NP_001394771.1:p.Pro1526Leufs frameshift NM_001407843.1:c.4575delC NP_001394772.1:p.Pro1526Leufs frameshift NM_001407844.1:c.4575delC NP_001394773.1:p.Pro1526Leufs frameshift NM_001407845.1:c.4575delC NP_001394774.1:p.Pro1526Leufs frameshift NM_001407846.1:c.4575delC NP_001394775.1:p.Pro1526Leufs frameshift NM_001407847.1:c.4575delC NP_001394776.1:p.Pro1526Leufs frameshift NM_001407848.1:c.4575delC NP_001394777.1:p.Pro1526Leufs frameshift NM_001407849.1:c.4575delC NP_001394778.1:p.Pro1526Leufs frameshift NM_001407850.1:c.4575delC NP_001394779.1:p.Pro1526Leufs frameshift NM_001407851.1:c.4575delC NP_001394780.1:p.Pro1526Leufs frameshift NM_001407852.1:c.4575delC NP_001394781.1:p.Pro1526Leufs frameshift NM_001407853.1:c.4575delC NP_001394782.1:p.Pro1526Leufs frameshift NM_001407854.1:c.4722delC NP_001394783.1:p.Pro1575Leufs frameshift NM_001407858.1:c.4719delC NP_001394787.1:p.Pro1574Leufs frameshift NM_001407859.1:c.4719delC NP_001394788.1:p.Pro1574Leufs frameshift NM_001407860.1:c.4719delC NP_001394789.1:p.Pro1574Leufs frameshift NM_001407861.1:c.4716delC NP_001394790.1:p.Pro1573Leufs frameshift NM_001407862.1:c.4521delC NP_001394791.1:p.Pro1508Leufs frameshift NM_001407863.1:c.4596delC NP_001394792.1:p.Pro1533Leufs frameshift NM_001407874.1:c.4515delC NP_001394803.1:p.Pro1506Leufs frameshift NM_001407875.1:c.4515delC NP_001394804.1:p.Pro1506Leufs frameshift NM_001407879.1:c.4512delC NP_001394808.1:p.Pro1505Leufs frameshift NM_001407881.1:c.4512delC NP_001394810.1:p.Pro1505Leufs frameshift NM_001407882.1:c.4512delC NP_001394811.1:p.Pro1505Leufs frameshift NM_001407884.1:c.4512delC NP_001394813.1:p.Pro1505Leufs frameshift NM_001407885.1:c.4512delC NP_001394814.1:p.Pro1505Leufs frameshift NM_001407886.1:c.4512delC NP_001394815.1:p.Pro1505Leufs frameshift NM_001407887.1:c.4512delC NP_001394816.1:p.Pro1505Leufs frameshift NM_001407889.1:c.4512delC NP_001394818.1:p.Pro1505Leufs frameshift NM_001407894.1:c.4509delC NP_001394823.1:p.Pro1504Leufs frameshift NM_001407895.1:c.4509delC NP_001394824.1:p.Pro1504Leufs frameshift NM_001407896.1:c.4509delC NP_001394825.1:p.Pro1504Leufs frameshift NM_001407897.1:c.4509delC NP_001394826.1:p.Pro1504Leufs frameshift NM_001407898.1:c.4509delC NP_001394827.1:p.Pro1504Leufs frameshift NM_001407899.1:c.4509delC NP_001394828.1:p.Pro1504Leufs frameshift NM_001407900.1:c.4509delC NP_001394829.1:p.Pro1504Leufs frameshift NM_001407902.1:c.4509delC NP_001394831.1:p.Pro1504Leufs frameshift NM_001407904.1:c.4509delC NP_001394833.1:p.Pro1504Leufs frameshift NM_001407906.1:c.4509delC NP_001394835.1:p.Pro1504Leufs frameshift NM_001407907.1:c.4509delC NP_001394836.1:p.Pro1504Leufs frameshift NM_001407908.1:c.4509delC NP_001394837.1:p.Pro1504Leufs frameshift NM_001407909.1:c.4509delC NP_001394838.1:p.Pro1504Leufs frameshift NM_001407910.1:c.4509delC NP_001394839.1:p.Pro1504Leufs frameshift NM_001407915.1:c.4506delC NP_001394844.1:p.Pro1503Leufs frameshift NM_001407916.1:c.4506delC NP_001394845.1:p.Pro1503Leufs frameshift NM_001407917.1:c.4506delC NP_001394846.1:p.Pro1503Leufs frameshift NM_001407918.1:c.4506delC NP_001394847.1:p.Pro1503Leufs frameshift NM_001407919.1:c.4599delC NP_001394848.1:p.Pro1534Leufs frameshift NM_001407920.1:c.4458delC NP_001394849.1:p.Pro1487Leufs frameshift NM_001407921.1:c.4458delC NP_001394850.1:p.Pro1487Leufs frameshift NM_001407922.1:c.4458delC NP_001394851.1:p.Pro1487Leufs frameshift NM_001407923.1:c.4458delC NP_001394852.1:p.Pro1487Leufs frameshift NM_001407924.1:c.4458delC NP_001394853.1:p.Pro1487Leufs frameshift NM_001407925.1:c.4458delC NP_001394854.1:p.Pro1487Leufs frameshift NM_001407926.1:c.4458delC NP_001394855.1:p.Pro1487Leufs frameshift NM_001407927.1:c.4455delC NP_001394856.1:p.Pro1486Leufs frameshift NM_001407928.1:c.4455delC NP_001394857.1:p.Pro1486Leufs frameshift NM_001407929.1:c.4455delC NP_001394858.1:p.Pro1486Leufs frameshift NM_001407930.1:c.4455delC NP_001394859.1:p.Pro1486Leufs frameshift NM_001407931.1:c.4455delC NP_001394860.1:p.Pro1486Leufs frameshift NM_001407932.1:c.4455delC NP_001394861.1:p.Pro1486Leufs frameshift NM_001407933.1:c.4455delC NP_001394862.1:p.Pro1486Leufs frameshift NM_001407934.1:c.4452delC NP_001394863.1:p.Pro1485Leufs frameshift NM_001407935.1:c.4452delC NP_001394864.1:p.Pro1485Leufs frameshift NM_001407936.1:c.4452delC NP_001394865.1:p.Pro1485Leufs frameshift NM_001407937.1:c.4599delC NP_001394866.1:p.Pro1534Leufs frameshift NM_001407938.1:c.4599delC NP_001394867.1:p.Pro1534Leufs frameshift NM_001407939.1:c.4596delC NP_001394868.1:p.Pro1533Leufs frameshift NM_001407940.1:c.4596delC NP_001394869.1:p.Pro1533Leufs frameshift NM_001407941.1:c.4593delC NP_001394870.1:p.Pro1532Leufs frameshift NM_001407942.1:c.4581delC NP_001394871.1:p.Pro1528Leufs frameshift NM_001407943.1:c.4578delC NP_001394872.1:p.Pro1527Leufs frameshift NM_001407944.1:c.4578delC NP_001394873.1:p.Pro1527Leufs frameshift NM_001407945.1:c.4578delC NP_001394874.1:p.Pro1527Leufs frameshift NM_001407946.1:c.4389delC NP_001394875.1:p.Pro1464Leufs frameshift NM_001407947.1:c.4389delC NP_001394876.1:p.Pro1464Leufs frameshift NM_001407948.1:c.4389delC NP_001394877.1:p.Pro1464Leufs frameshift NM_001407949.1:c.4389delC NP_001394878.1:p.Pro1464Leufs frameshift NM_001407950.1:c.4386delC NP_001394879.1:p.Pro1463Leufs frameshift NM_001407951.1:c.4386delC NP_001394880.1:p.Pro1463Leufs frameshift NM_001407952.1:c.4386delC NP_001394881.1:p.Pro1463Leufs frameshift NM_001407953.1:c.4386delC NP_001394882.1:p.Pro1463Leufs frameshift NM_001407954.1:c.4386delC NP_001394883.1:p.Pro1463Leufs frameshift NM_001407955.1:c.4386delC NP_001394884.1:p.Pro1463Leufs frameshift NM_001407956.1:c.4383delC NP_001394885.1:p.Pro1462Leufs frameshift NM_001407957.1:c.4383delC NP_001394886.1:p.Pro1462Leufs frameshift NM_001407958.1:c.4383delC NP_001394887.1:p.Pro1462Leufs frameshift NM_001407959.1:c.4341delC NP_001394888.1:p.Pro1448Leufs frameshift NM_001407960.1:c.4338delC NP_001394889.1:p.Pro1447Leufs frameshift NM_001407962.1:c.4338delC NP_001394891.1:p.Pro1447Leufs frameshift NM_001407963.1:c.4335delC NP_001394892.1:p.Pro1446Leufs frameshift NM_001407964.1:c.4260delC NP_001394893.1:p.Pro1421Leufs frameshift NM_001407965.1:c.4215delC NP_001394894.1:p.Pro1406Leufs frameshift NM_001407966.1:c.3834delC NP_001394895.1:p.Pro1279Leufs frameshift NM_001407967.1:c.3831delC NP_001394896.1:p.Pro1278Leufs frameshift NM_001407968.1:c.2118delC NP_001394897.1:p.Pro707Leufs frameshift NM_001407969.1:c.2115delC NP_001394898.1:p.Pro706Leufs frameshift NM_001407970.1:c.1479delC NP_001394899.1:p.Pro494Leufs frameshift NM_001407971.1:c.1479delC NP_001394900.1:p.Pro494Leufs frameshift NM_001407972.1:c.1476delC NP_001394901.1:p.Pro493Leufs frameshift NM_001407973.1:c.1413delC NP_001394902.1:p.Pro472Leufs frameshift NM_001407974.1:c.1413delC NP_001394903.1:p.Pro472Leufs frameshift NM_001407975.1:c.1413delC NP_001394904.1:p.Pro472Leufs frameshift NM_001407976.1:c.1413delC NP_001394905.1:p.Pro472Leufs frameshift NM_001407977.1:c.1413delC NP_001394906.1:p.Pro472Leufs frameshift NM_001407978.1:c.1413delC NP_001394907.1:p.Pro472Leufs frameshift NM_001407979.1:c.1410delC NP_001394908.1:p.Pro471Leufs frameshift NM_001407980.1:c.1410delC NP_001394909.1:p.Pro471Leufs frameshift NM_001407981.1:c.1410delC NP_001394910.1:p.Pro471Leufs frameshift NM_001407982.1:c.1410delC NP_001394911.1:p.Pro471Leufs frameshift NM_001407983.1:c.1410delC NP_001394912.1:p.Pro471Leufs frameshift NM_001407984.1:c.1410delC NP_001394913.1:p.Pro471Leufs frameshift NM_001407985.1:c.1410delC NP_001394914.1:p.Pro471Leufs frameshift NM_001407986.1:c.1410delC NP_001394915.1:p.Pro471Leufs frameshift NM_001407990.1:c.1410delC NP_001394919.1:p.Pro471Leufs frameshift NM_001407991.1:c.1410delC NP_001394920.1:p.Pro471Leufs frameshift NM_001407992.1:c.1410delC NP_001394921.1:p.Pro471Leufs frameshift NM_001407993.1:c.1410delC NP_001394922.1:p.Pro471Leufs frameshift NM_001408392.1:c.1407delC NP_001395321.1:p.Pro470Leufs frameshift NM_001408396.1:c.1407delC NP_001395325.1:p.Pro470Leufs frameshift NM_001408397.1:c.1407delC NP_001395326.1:p.Pro470Leufs frameshift NM_001408398.1:c.1407delC NP_001395327.1:p.Pro470Leufs frameshift NM_001408399.1:c.1407delC NP_001395328.1:p.Pro470Leufs frameshift NM_001408400.1:c.1407delC NP_001395329.1:p.Pro470Leufs frameshift NM_001408401.1:c.1407delC NP_001395330.1:p.Pro470Leufs frameshift NM_001408402.1:c.1407delC NP_001395331.1:p.Pro470Leufs frameshift NM_001408403.1:c.1407delC NP_001395332.1:p.Pro470Leufs frameshift NM_001408404.1:c.1407delC NP_001395333.1:p.Pro470Leufs frameshift NM_001408406.1:c.1404delC NP_001395335.1:p.Pro469Leufs frameshift NM_001408407.1:c.1404delC NP_001395336.1:p.Pro469Leufs frameshift NM_001408408.1:c.1404delC NP_001395337.1:p.Pro469Leufs frameshift NM_001408409.1:c.1401delC NP_001395338.1:p.Pro468Leufs frameshift NM_001408410.1:c.1338delC NP_001395339.1:p.Pro447Leufs frameshift NM_001408411.1:c.1335delC NP_001395340.1:p.Pro446Leufs frameshift NM_001408412.1:c.1332delC NP_001395341.1:p.Pro445Leufs frameshift NM_001408413.1:c.1332delC NP_001395342.1:p.Pro445Leufs frameshift NM_001408414.1:c.1332delC NP_001395343.1:p.Pro445Leufs frameshift NM_001408415.1:c.1332delC NP_001395344.1:p.Pro445Leufs frameshift NM_001408416.1:c.1332delC NP_001395345.1:p.Pro445Leufs frameshift NM_001408418.1:c.1296delC NP_001395347.1:p.Pro433Leufs frameshift NM_001408419.1:c.1296delC NP_001395348.1:p.Pro433Leufs frameshift NM_001408420.1:c.1296delC NP_001395349.1:p.Pro433Leufs frameshift NM_001408421.1:c.1293delC NP_001395350.1:p.Pro432Leufs frameshift NM_001408422.1:c.1293delC NP_001395351.1:p.Pro432Leufs frameshift NM_001408423.1:c.1293delC NP_001395352.1:p.Pro432Leufs frameshift NM_001408424.1:c.1293delC NP_001395353.1:p.Pro432Leufs frameshift NM_001408425.1:c.1290delC NP_001395354.1:p.Pro431Leufs frameshift NM_001408426.1:c.1290delC NP_001395355.1:p.Pro431Leufs frameshift NM_001408427.1:c.1290delC NP_001395356.1:p.Pro431Leufs frameshift NM_001408428.1:c.1290delC NP_001395357.1:p.Pro431Leufs frameshift NM_001408429.1:c.1290delC NP_001395358.1:p.Pro431Leufs frameshift NM_001408430.1:c.1290delC NP_001395359.1:p.Pro431Leufs frameshift NM_001408431.1:c.1290delC NP_001395360.1:p.Pro431Leufs frameshift NM_001408432.1:c.1287delC NP_001395361.1:p.Pro430Leufs frameshift NM_001408433.1:c.1287delC NP_001395362.1:p.Pro430Leufs frameshift NM_001408434.1:c.1287delC NP_001395363.1:p.Pro430Leufs frameshift NM_001408435.1:c.1287delC NP_001395364.1:p.Pro430Leufs frameshift NM_001408436.1:c.1287delC NP_001395365.1:p.Pro430Leufs frameshift NM_001408437.1:c.1287delC NP_001395366.1:p.Pro430Leufs frameshift NM_001408438.1:c.1287delC NP_001395367.1:p.Pro430Leufs frameshift NM_001408439.1:c.1287delC NP_001395368.1:p.Pro430Leufs frameshift NM_001408440.1:c.1287delC NP_001395369.1:p.Pro430Leufs frameshift NM_001408441.1:c.1287delC NP_001395370.1:p.Pro430Leufs frameshift NM_001408442.1:c.1287delC NP_001395371.1:p.Pro430Leufs frameshift NM_001408443.1:c.1287delC NP_001395372.1:p.Pro430Leufs frameshift NM_001408444.1:c.1287delC NP_001395373.1:p.Pro430Leufs frameshift NM_001408445.1:c.1284delC NP_001395374.1:p.Pro429Leufs frameshift NM_001408446.1:c.1284delC NP_001395375.1:p.Pro429Leufs frameshift NM_001408447.1:c.1284delC NP_001395376.1:p.Pro429Leufs frameshift NM_001408448.1:c.1284delC NP_001395377.1:p.Pro429Leufs frameshift NM_001408450.1:c.1284delC NP_001395379.1:p.Pro429Leufs frameshift NM_001408451.1:c.1278delC NP_001395380.1:p.Pro427Leufs frameshift NM_001408452.1:c.1272delC NP_001395381.1:p.Pro425Leufs frameshift NM_001408453.1:c.1272delC NP_001395382.1:p.Pro425Leufs frameshift NM_001408454.1:c.1272delC NP_001395383.1:p.Pro425Leufs frameshift NM_001408455.1:c.1272delC NP_001395384.1:p.Pro425Leufs frameshift NM_001408456.1:c.1272delC NP_001395385.1:p.Pro425Leufs frameshift NM_001408457.1:c.1272delC NP_001395386.1:p.Pro425Leufs frameshift NM_001408458.1:c.1269delC NP_001395387.1:p.Pro424Leufs frameshift NM_001408459.1:c.1269delC NP_001395388.1:p.Pro424Leufs frameshift NM_001408460.1:c.1269delC NP_001395389.1:p.Pro424Leufs frameshift NM_001408461.1:c.1269delC NP_001395390.1:p.Pro424Leufs frameshift NM_001408462.1:c.1269delC NP_001395391.1:p.Pro424Leufs frameshift NM_001408463.1:c.1269delC NP_001395392.1:p.Pro424Leufs frameshift NM_001408464.1:c.1269delC NP_001395393.1:p.Pro424Leufs frameshift NM_001408465.1:c.1269delC NP_001395394.1:p.Pro424Leufs frameshift NM_001408466.1:c.1269delC NP_001395395.1:p.Pro424Leufs frameshift NM_001408467.1:c.1269delC NP_001395396.1:p.Pro424Leufs frameshift NM_001408468.1:c.1266delC NP_001395397.1:p.Pro423Leufs frameshift NM_001408469.1:c.1266delC NP_001395398.1:p.Pro423Leufs frameshift NM_001408470.1:c.1266delC NP_001395399.1:p.Pro423Leufs frameshift NM_001408472.1:c.1410delC NP_001395401.1:p.Pro471Leufs frameshift NM_001408473.1:c.1407delC NP_001395402.1:p.Pro470Leufs frameshift NM_001408474.1:c.1212delC NP_001395403.1:p.Pro405Leufs frameshift NM_001408475.1:c.1209delC NP_001395404.1:p.Pro404Leufs frameshift NM_001408476.1:c.1209delC NP_001395405.1:p.Pro404Leufs frameshift NM_001408478.1:c.1203delC NP_001395407.1:p.Pro402Leufs frameshift NM_001408479.1:c.1203delC NP_001395408.1:p.Pro402Leufs frameshift NM_001408480.1:c.1203delC NP_001395409.1:p.Pro402Leufs frameshift NM_001408481.1:c.1200delC NP_001395410.1:p.Pro401Leufs frameshift NM_001408482.1:c.1200delC NP_001395411.1:p.Pro401Leufs frameshift NM_001408483.1:c.1200delC NP_001395412.1:p.Pro401Leufs frameshift NM_001408484.1:c.1200delC NP_001395413.1:p.Pro401Leufs frameshift NM_001408485.1:c.1200delC NP_001395414.1:p.Pro401Leufs frameshift NM_001408489.1:c.1200delC NP_001395418.1:p.Pro401Leufs frameshift NM_001408490.1:c.1200delC NP_001395419.1:p.Pro401Leufs frameshift NM_001408491.1:c.1200delC NP_001395420.1:p.Pro401Leufs frameshift NM_001408492.1:c.1197delC NP_001395421.1:p.Pro400Leufs frameshift NM_001408493.1:c.1197delC NP_001395422.1:p.Pro400Leufs frameshift NM_001408494.1:c.1173delC NP_001395423.1:p.Pro392Leufs frameshift NM_001408495.1:c.1167delC NP_001395424.1:p.Pro390Leufs frameshift NM_001408496.1:c.1149delC NP_001395425.1:p.Pro384Leufs frameshift NM_001408497.1:c.1149delC NP_001395426.1:p.Pro384Leufs frameshift NM_001408498.1:c.1149delC NP_001395427.1:p.Pro384Leufs frameshift NM_001408499.1:c.1149delC NP_001395428.1:p.Pro384Leufs frameshift NM_001408500.1:c.1149delC NP_001395429.1:p.Pro384Leufs frameshift NM_001408501.1:c.1149delC NP_001395430.1:p.Pro384Leufs frameshift NM_001408502.1:c.1146delC NP_001395431.1:p.Pro383Leufs frameshift NM_001408503.1:c.1146delC NP_001395432.1:p.Pro383Leufs frameshift NM_001408504.1:c.1146delC NP_001395433.1:p.Pro383Leufs frameshift NM_001408505.1:c.1143delC NP_001395434.1:p.Pro382Leufs frameshift NM_001408506.1:c.1086delC NP_001395435.1:p.Pro363Leufs frameshift NM_001408507.1:c.1083delC NP_001395436.1:p.Pro362Leufs frameshift NM_001408508.1:c.1074delC NP_001395437.1:p.Pro359Leufs frameshift NM_001408509.1:c.1071delC NP_001395438.1:p.Pro358Leufs frameshift NM_001408510.1:c.1032delC NP_001395439.1:p.Pro345Leufs frameshift NM_001408511.1:c.1029delC NP_001395440.1:p.Pro344Leufs frameshift NM_001408512.1:c.909delC NP_001395441.1:p.Pro304Leufs frameshift NM_001408513.1:c.882delC NP_001395442.1:p.Pro295Leufs frameshift NM_007294.3:c.4724delC frameshift NM_007297.4:c.4583del NP_009228.2:p.Pro1528fs frameshift NM_007298.4:c.1410delC NP_009229.2:p.Pro471Leufs frameshift NM_007299.4:c.1412del NP_009230.2:p.Pro471fs frameshift NM_007300.4:c.4787del NP_009231.2:p.Pro1596fs frameshift NM_007304.2:c.1410delC NP_009235.2:p.Pro471Leufs frameshift NR_027676.2:n.4901del non-coding transcript variant NC_000017.11:g.43071192del NC_000017.10:g.41223209del NG_005905.2:g.146794del LRG_292:g.146794del LRG_292t1:c.4722del LRG_292p1:p.Pro1575Leufs - Protein change
- P1596fs, P471fs, P1528fs, P1575fs
- Other names
-
4843delC
- Canonical SPDI
- NC_000017.11:43071189:GGG:GG
-
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 (3) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257417.14 | |
| Pathogenic (1) |
criteria provided, single submitter
|
May 18, 2018 | RCV000759548.11 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Oct 30, 2023 | RCV001216282.16 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Aug 11, 2020 | RCV002336184.9 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Oct 18, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323791.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(May 18, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888929.2
First in ClinVar: Mar 14, 2019 Last updated: Jan 03, 2022 |
|
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326038.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Jan 18, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004216851.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
|
Pathogenic
(Oct 30, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001388072.5
First in ClinVar: Jul 16, 2020 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Pro1575Leufs*26) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Pro1575Leufs*26) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 16244786, 29446198). This variant is also known as 4843delC. ClinVar contains an entry for this variant (Variation ID: 55271). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
Pathogenic
(Aug 11, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002639242.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.4724delC variant, located in coding exon 14 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 4724, causing a … (more)
The c.4724delC variant, located in coding exon 14 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 4724, causing a translational frameshift with a predicted alternate stop codon (p.P1575Lfs*26). This mutation has been identified in multiple individuals from Sicilian families with breast and/or ovarian cancer (Calò V et al. Breast Cancer Res. Treat., 2006 Mar;96:97-100; Russo A et al. Breast Cancer Res. Treat., 2007 Nov;105:267-76). In addition to the clinical data presented in the literature, 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)
|
Comment:
Comment:
This sequence change creates a premature translational stop signal (p.Pro1575Leufs*26) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 16244786, 29446198). This variant is also known as 4843delC. ClinVar contains an entry for this variant (Variation ID: 55271). For these reasons, this variant has been classified as Pathogenic.
Comment:
The c.4724delC variant, located in coding exon 14 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 4724, causing a translational frameshift with a predicted alternate stop codon (p.P1575Lfs*26). This mutation has been identified in multiple individuals from Sicilian families with breast and/or ovarian cancer (Calò V et al. Breast Cancer Res. Treat., 2006 Mar;96:97-100; Russo A et al. Breast Cancer Res. Treat., 2007 Nov;105:267-76). In addition to the clinical data presented in the literature, 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:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
This sequence change creates a premature translational stop signal (p.Pro1575Leufs*26) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 16244786, 29446198). This variant is also known as 4843delC. ClinVar contains an entry for this variant (Variation ID: 55271). For these reasons, this variant has been classified as Pathogenic.
Comment:
The c.4724delC variant, located in coding exon 14 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 4724, causing a translational frameshift with a predicted alternate stop codon (p.P1575Lfs*26). This mutation has been identified in multiple individuals from Sicilian families with breast and/or ovarian cancer (Calò V et al. Breast Cancer Res. Treat., 2006 Mar;96:97-100; Russo A et al. Breast Cancer Res. Treat., 2007 Nov;105:267-76). In addition to the clinical data presented in the literature, 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 |
|---|---|---|---|---|
| Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
| The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations. | Ricci MT | European journal of human genetics : EJHG | 2014 | PMID: 24065114 |
| Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. | Janavičius R | The EPMA journal | 2010 | PMID: 23199084 |
| 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 |
| BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses. | Russo A | Breast cancer research and treatment | 2007 | PMID: 17221156 |
| A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer. | Calò V | Breast cancer research and treatment | 2006 | PMID: 16244786 |
Text-mined citations for rs397509191 ...
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 Nov 03, 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.