ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3967del (p.Gln1323fs)
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.
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3967del (p.Gln1323fs)
Variation ID: 55063 Accession: VCV000055063.14
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091564 (GRCh38) [ NCBI UCSC ] 17: 41243581 (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 May 29, 2016 Feb 14, 2024 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3967del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1323fs frameshift NM_001407571.1:c.3754del NP_001394500.1:p.Gln1252fs frameshift NM_001407581.1:c.3967del NP_001394510.1:p.Gln1323fs frameshift NM_001407582.1:c.3967del NP_001394511.1:p.Gln1323fs frameshift NM_001407583.1:c.3967del NP_001394512.1:p.Gln1323fs frameshift NM_001407585.1:c.3967del NP_001394514.1:p.Gln1323fs frameshift NM_001407587.1:c.3964del NP_001394516.1:p.Gln1322fs frameshift NM_001407590.1:c.3964del NP_001394519.1:p.Gln1322fs frameshift NM_001407591.1:c.3964del NP_001394520.1:p.Gln1322fs frameshift NM_001407593.1:c.3967del NP_001394522.1:p.Gln1323fs frameshift NM_001407594.1:c.3967del NP_001394523.1:p.Gln1323fs frameshift NM_001407596.1:c.3967del NP_001394525.1:p.Gln1323fs frameshift NM_001407597.1:c.3967del NP_001394526.1:p.Gln1323fs frameshift NM_001407598.1:c.3967del NP_001394527.1:p.Gln1323fs frameshift NM_001407602.1:c.3967del NP_001394531.1:p.Gln1323fs frameshift NM_001407603.1:c.3967del NP_001394532.1:p.Gln1323fs frameshift NM_001407605.1:c.3967del NP_001394534.1:p.Gln1323fs frameshift NM_001407610.1:c.3964del NP_001394539.1:p.Gln1322fs frameshift NM_001407611.1:c.3964del NP_001394540.1:p.Gln1322fs frameshift NM_001407612.1:c.3964del NP_001394541.1:p.Gln1322fs frameshift NM_001407613.1:c.3964del NP_001394542.1:p.Gln1322fs frameshift NM_001407614.1:c.3964del NP_001394543.1:p.Gln1322fs frameshift NM_001407615.1:c.3964del NP_001394544.1:p.Gln1322fs frameshift NM_001407616.1:c.3967del NP_001394545.1:p.Gln1323fs frameshift NM_001407617.1:c.3967del NP_001394546.1:p.Gln1323fs frameshift NM_001407618.1:c.3967del NP_001394547.1:p.Gln1323fs frameshift NM_001407619.1:c.3967del NP_001394548.1:p.Gln1323fs frameshift NM_001407620.1:c.3967del NP_001394549.1:p.Gln1323fs frameshift NM_001407621.1:c.3967del NP_001394550.1:p.Gln1323fs frameshift NM_001407622.1:c.3967del NP_001394551.1:p.Gln1323fs frameshift NM_001407623.1:c.3967del NP_001394552.1:p.Gln1323fs frameshift NM_001407624.1:c.3967del NP_001394553.1:p.Gln1323fs frameshift NM_001407625.1:c.3967del NP_001394554.1:p.Gln1323fs frameshift NM_001407626.1:c.3967del NP_001394555.1:p.Gln1323fs frameshift NM_001407627.1:c.3964del NP_001394556.1:p.Gln1322fs frameshift NM_001407628.1:c.3964del NP_001394557.1:p.Gln1322fs frameshift NM_001407629.1:c.3964del NP_001394558.1:p.Gln1322fs frameshift NM_001407630.1:c.3964del NP_001394559.1:p.Gln1322fs frameshift NM_001407631.1:c.3964del NP_001394560.1:p.Gln1322fs frameshift NM_001407632.1:c.3964del NP_001394561.1:p.Gln1322fs frameshift NM_001407633.1:c.3964del NP_001394562.1:p.Gln1322fs frameshift NM_001407634.1:c.3964del NP_001394563.1:p.Gln1322fs frameshift NM_001407635.1:c.3964del NP_001394564.1:p.Gln1322fs frameshift NM_001407636.1:c.3964del NP_001394565.1:p.Gln1322fs frameshift NM_001407637.1:c.3964del NP_001394566.1:p.Gln1322fs frameshift NM_001407638.1:c.3964del NP_001394567.1:p.Gln1322fs frameshift NM_001407639.1:c.3967del NP_001394568.1:p.Gln1323fs frameshift NM_001407640.1:c.3967del NP_001394569.1:p.Gln1323fs frameshift NM_001407641.1:c.3967del NP_001394570.1:p.Gln1323fs frameshift NM_001407642.1:c.3967del NP_001394571.1:p.Gln1323fs frameshift NM_001407644.1:c.3964del NP_001394573.1:p.Gln1322fs frameshift NM_001407645.1:c.3964del NP_001394574.1:p.Gln1322fs frameshift NM_001407646.1:c.3958del NP_001394575.1:p.Gln1320fs frameshift NM_001407647.1:c.3958del NP_001394576.1:p.Gln1320fs frameshift NM_001407648.1:c.3844del NP_001394577.1:p.Gln1282fs frameshift NM_001407649.1:c.3841del NP_001394578.1:p.Gln1281fs frameshift NM_001407652.1:c.3967del NP_001394581.1:p.Gln1323fs frameshift NM_001407653.1:c.3889del NP_001394582.1:p.Gln1297fs frameshift NM_001407654.1:c.3889del NP_001394583.1:p.Gln1297fs frameshift NM_001407655.1:c.3889del NP_001394584.1:p.Gln1297fs frameshift NM_001407656.1:c.3889del NP_001394585.1:p.Gln1297fs frameshift NM_001407657.1:c.3889del NP_001394586.1:p.Gln1297fs frameshift NM_001407658.1:c.3889del NP_001394587.1:p.Gln1297fs frameshift NM_001407659.1:c.3886del NP_001394588.1:p.Gln1296fs frameshift NM_001407660.1:c.3886del NP_001394589.1:p.Gln1296fs frameshift NM_001407661.1:c.3886del NP_001394590.1:p.Gln1296fs frameshift NM_001407662.1:c.3886del NP_001394591.1:p.Gln1296fs frameshift NM_001407663.1:c.3889del NP_001394592.1:p.Gln1297fs frameshift NM_001407664.1:c.3844del NP_001394593.1:p.Gln1282fs frameshift NM_001407665.1:c.3844del NP_001394594.1:p.Gln1282fs frameshift NM_001407666.1:c.3844del NP_001394595.1:p.Gln1282fs frameshift NM_001407667.1:c.3844del NP_001394596.1:p.Gln1282fs frameshift NM_001407668.1:c.3844del NP_001394597.1:p.Gln1282fs frameshift NM_001407669.1:c.3844del NP_001394598.1:p.Gln1282fs frameshift NM_001407670.1:c.3841del NP_001394599.1:p.Gln1281fs frameshift NM_001407671.1:c.3841del NP_001394600.1:p.Gln1281fs frameshift NM_001407672.1:c.3841del NP_001394601.1:p.Gln1281fs frameshift NM_001407673.1:c.3841del NP_001394602.1:p.Gln1281fs frameshift NM_001407674.1:c.3844del NP_001394603.1:p.Gln1282fs frameshift NM_001407675.1:c.3844del NP_001394604.1:p.Gln1282fs frameshift NM_001407676.1:c.3844del NP_001394605.1:p.Gln1282fs frameshift NM_001407677.1:c.3844del NP_001394606.1:p.Gln1282fs frameshift NM_001407678.1:c.3844del NP_001394607.1:p.Gln1282fs frameshift NM_001407679.1:c.3844del NP_001394608.1:p.Gln1282fs frameshift NM_001407680.1:c.3844del NP_001394609.1:p.Gln1282fs frameshift NM_001407681.1:c.3844del NP_001394610.1:p.Gln1282fs frameshift NM_001407682.1:c.3844del NP_001394611.1:p.Gln1282fs frameshift NM_001407683.1:c.3844del NP_001394612.1:p.Gln1282fs frameshift NM_001407684.1:c.3967del NP_001394613.1:p.Gln1323fs frameshift NM_001407685.1:c.3841del NP_001394614.1:p.Gln1281fs frameshift NM_001407686.1:c.3841del NP_001394615.1:p.Gln1281fs frameshift NM_001407687.1:c.3841del NP_001394616.1:p.Gln1281fs frameshift NM_001407688.1:c.3841del NP_001394617.1:p.Gln1281fs frameshift NM_001407689.1:c.3841del NP_001394618.1:p.Gln1281fs frameshift NM_001407690.1:c.3841del NP_001394619.1:p.Gln1281fs frameshift NM_001407691.1:c.3841del NP_001394620.1:p.Gln1281fs frameshift NM_001407692.1:c.3826del NP_001394621.1:p.Gln1276fs frameshift NM_001407694.1:c.3826del NP_001394623.1:p.Gln1276fs frameshift NM_001407695.1:c.3826del NP_001394624.1:p.Gln1276fs frameshift NM_001407696.1:c.3826del NP_001394625.1:p.Gln1276fs frameshift NM_001407697.1:c.3826del NP_001394626.1:p.Gln1276fs frameshift NM_001407698.1:c.3826del NP_001394627.1:p.Gln1276fs frameshift NM_001407724.1:c.3826del NP_001394653.1:p.Gln1276fs frameshift NM_001407725.1:c.3826del NP_001394654.1:p.Gln1276fs frameshift NM_001407726.1:c.3826del NP_001394655.1:p.Gln1276fs frameshift NM_001407727.1:c.3826del NP_001394656.1:p.Gln1276fs frameshift NM_001407728.1:c.3826del NP_001394657.1:p.Gln1276fs frameshift NM_001407729.1:c.3826del NP_001394658.1:p.Gln1276fs frameshift NM_001407730.1:c.3826del NP_001394659.1:p.Gln1276fs frameshift NM_001407731.1:c.3826del NP_001394660.1:p.Gln1276fs frameshift NM_001407732.1:c.3826del NP_001394661.1:p.Gln1276fs frameshift NM_001407733.1:c.3826del NP_001394662.1:p.Gln1276fs frameshift NM_001407734.1:c.3826del NP_001394663.1:p.Gln1276fs frameshift NM_001407735.1:c.3826del NP_001394664.1:p.Gln1276fs frameshift NM_001407736.1:c.3826del NP_001394665.1:p.Gln1276fs frameshift NM_001407737.1:c.3826del NP_001394666.1:p.Gln1276fs frameshift NM_001407738.1:c.3826del NP_001394667.1:p.Gln1276fs frameshift NM_001407739.1:c.3826del NP_001394668.1:p.Gln1276fs frameshift NM_001407740.1:c.3823del NP_001394669.1:p.Gln1275fs frameshift NM_001407741.1:c.3823del NP_001394670.1:p.Gln1275fs frameshift NM_001407742.1:c.3823del NP_001394671.1:p.Gln1275fs frameshift NM_001407743.1:c.3823del NP_001394672.1:p.Gln1275fs frameshift NM_001407744.1:c.3823del NP_001394673.1:p.Gln1275fs frameshift NM_001407745.1:c.3823del NP_001394674.1:p.Gln1275fs frameshift NM_001407746.1:c.3823del NP_001394675.1:p.Gln1275fs frameshift NM_001407747.1:c.3823del NP_001394676.1:p.Gln1275fs frameshift NM_001407748.1:c.3823del NP_001394677.1:p.Gln1275fs frameshift NM_001407749.1:c.3823del NP_001394678.1:p.Gln1275fs frameshift NM_001407750.1:c.3826del NP_001394679.1:p.Gln1276fs frameshift NM_001407751.1:c.3826del NP_001394680.1:p.Gln1276fs frameshift NM_001407752.1:c.3826del NP_001394681.1:p.Gln1276fs frameshift NM_001407838.1:c.3823del NP_001394767.1:p.Gln1275fs frameshift NM_001407839.1:c.3823del NP_001394768.1:p.Gln1275fs frameshift NM_001407841.1:c.3823del NP_001394770.1:p.Gln1275fs frameshift NM_001407842.1:c.3823del NP_001394771.1:p.Gln1275fs frameshift NM_001407843.1:c.3823del NP_001394772.1:p.Gln1275fs frameshift NM_001407844.1:c.3823del NP_001394773.1:p.Gln1275fs frameshift NM_001407845.1:c.3823del NP_001394774.1:p.Gln1275fs frameshift NM_001407846.1:c.3823del NP_001394775.1:p.Gln1275fs frameshift NM_001407847.1:c.3823del NP_001394776.1:p.Gln1275fs frameshift NM_001407848.1:c.3823del NP_001394777.1:p.Gln1275fs frameshift NM_001407849.1:c.3823del NP_001394778.1:p.Gln1275fs frameshift NM_001407850.1:c.3826del NP_001394779.1:p.Gln1276fs frameshift NM_001407851.1:c.3826del NP_001394780.1:p.Gln1276fs frameshift NM_001407852.1:c.3826del NP_001394781.1:p.Gln1276fs frameshift NM_001407853.1:c.3754del NP_001394782.1:p.Gln1252fs frameshift NM_001407854.1:c.3967del NP_001394783.1:p.Gln1323fs frameshift NM_001407858.1:c.3967del NP_001394787.1:p.Gln1323fs frameshift NM_001407859.1:c.3967del NP_001394788.1:p.Gln1323fs frameshift NM_001407860.1:c.3964del NP_001394789.1:p.Gln1322fs frameshift NM_001407861.1:c.3964del NP_001394790.1:p.Gln1322fs frameshift NM_001407862.1:c.3766del NP_001394791.1:p.Gln1256fs frameshift NM_001407863.1:c.3844del NP_001394792.1:p.Gln1282fs frameshift NM_001407874.1:c.3763del NP_001394803.1:p.Gln1255fs frameshift NM_001407875.1:c.3763del NP_001394804.1:p.Gln1255fs frameshift NM_001407879.1:c.3757del NP_001394808.1:p.Gln1253fs frameshift NM_001407881.1:c.3757del NP_001394810.1:p.Gln1253fs frameshift NM_001407882.1:c.3757del NP_001394811.1:p.Gln1253fs frameshift NM_001407884.1:c.3757del NP_001394813.1:p.Gln1253fs frameshift NM_001407885.1:c.3757del NP_001394814.1:p.Gln1253fs frameshift NM_001407886.1:c.3757del NP_001394815.1:p.Gln1253fs frameshift NM_001407887.1:c.3757del NP_001394816.1:p.Gln1253fs frameshift NM_001407889.1:c.3757del NP_001394818.1:p.Gln1253fs frameshift NM_001407894.1:c.3754del NP_001394823.1:p.Gln1252fs frameshift NM_001407895.1:c.3754del NP_001394824.1:p.Gln1252fs frameshift NM_001407896.1:c.3754del NP_001394825.1:p.Gln1252fs frameshift NM_001407897.1:c.3754del NP_001394826.1:p.Gln1252fs frameshift NM_001407898.1:c.3754del NP_001394827.1:p.Gln1252fs frameshift NM_001407899.1:c.3754del NP_001394828.1:p.Gln1252fs frameshift NM_001407900.1:c.3757del NP_001394829.1:p.Gln1253fs frameshift NM_001407902.1:c.3757del NP_001394831.1:p.Gln1253fs frameshift NM_001407904.1:c.3757del NP_001394833.1:p.Gln1253fs frameshift NM_001407906.1:c.3757del NP_001394835.1:p.Gln1253fs frameshift NM_001407907.1:c.3757del NP_001394836.1:p.Gln1253fs frameshift NM_001407908.1:c.3757del NP_001394837.1:p.Gln1253fs frameshift NM_001407909.1:c.3757del NP_001394838.1:p.Gln1253fs frameshift NM_001407910.1:c.3757del NP_001394839.1:p.Gln1253fs frameshift NM_001407915.1:c.3754del NP_001394844.1:p.Gln1252fs frameshift NM_001407916.1:c.3754del NP_001394845.1:p.Gln1252fs frameshift NM_001407917.1:c.3754del NP_001394846.1:p.Gln1252fs frameshift NM_001407918.1:c.3754del NP_001394847.1:p.Gln1252fs frameshift NM_001407919.1:c.3844del NP_001394848.1:p.Gln1282fs frameshift NM_001407920.1:c.3703del NP_001394849.1:p.Gln1235fs frameshift NM_001407921.1:c.3703del NP_001394850.1:p.Gln1235fs frameshift NM_001407922.1:c.3703del NP_001394851.1:p.Gln1235fs frameshift NM_001407923.1:c.3703del NP_001394852.1:p.Gln1235fs frameshift NM_001407924.1:c.3703del NP_001394853.1:p.Gln1235fs frameshift NM_001407925.1:c.3703del NP_001394854.1:p.Gln1235fs frameshift NM_001407926.1:c.3703del NP_001394855.1:p.Gln1235fs frameshift NM_001407927.1:c.3703del NP_001394856.1:p.Gln1235fs frameshift NM_001407928.1:c.3703del NP_001394857.1:p.Gln1235fs frameshift NM_001407929.1:c.3703del NP_001394858.1:p.Gln1235fs frameshift NM_001407930.1:c.3700del NP_001394859.1:p.Gln1234fs frameshift NM_001407931.1:c.3700del NP_001394860.1:p.Gln1234fs frameshift NM_001407932.1:c.3700del NP_001394861.1:p.Gln1234fs frameshift NM_001407933.1:c.3703del NP_001394862.1:p.Gln1235fs frameshift NM_001407934.1:c.3700del NP_001394863.1:p.Gln1234fs frameshift NM_001407935.1:c.3703del NP_001394864.1:p.Gln1235fs frameshift NM_001407936.1:c.3700del NP_001394865.1:p.Gln1234fs frameshift NM_001407937.1:c.3844del NP_001394866.1:p.Gln1282fs frameshift NM_001407938.1:c.3844del NP_001394867.1:p.Gln1282fs frameshift NM_001407939.1:c.3844del NP_001394868.1:p.Gln1282fs frameshift NM_001407940.1:c.3841del NP_001394869.1:p.Gln1281fs frameshift NM_001407941.1:c.3841del NP_001394870.1:p.Gln1281fs frameshift NM_001407942.1:c.3826del NP_001394871.1:p.Gln1276fs frameshift NM_001407943.1:c.3823del NP_001394872.1:p.Gln1275fs frameshift NM_001407944.1:c.3826del NP_001394873.1:p.Gln1276fs frameshift NM_001407945.1:c.3826del NP_001394874.1:p.Gln1276fs frameshift NM_001407946.1:c.3634del NP_001394875.1:p.Gln1212fs frameshift NM_001407947.1:c.3634del NP_001394876.1:p.Gln1212fs frameshift NM_001407948.1:c.3634del NP_001394877.1:p.Gln1212fs frameshift NM_001407949.1:c.3634del NP_001394878.1:p.Gln1212fs frameshift NM_001407950.1:c.3634del NP_001394879.1:p.Gln1212fs frameshift NM_001407951.1:c.3634del NP_001394880.1:p.Gln1212fs frameshift NM_001407952.1:c.3634del NP_001394881.1:p.Gln1212fs frameshift NM_001407953.1:c.3634del NP_001394882.1:p.Gln1212fs frameshift NM_001407954.1:c.3631del NP_001394883.1:p.Gln1211fs frameshift NM_001407955.1:c.3631del NP_001394884.1:p.Gln1211fs frameshift NM_001407956.1:c.3631del NP_001394885.1:p.Gln1211fs frameshift NM_001407957.1:c.3634del NP_001394886.1:p.Gln1212fs frameshift NM_001407958.1:c.3631del NP_001394887.1:p.Gln1211fs frameshift NM_001407959.1:c.3586del NP_001394888.1:p.Gln1196fs frameshift NM_001407960.1:c.3586del NP_001394889.1:p.Gln1196fs frameshift NM_001407962.1:c.3583del NP_001394891.1:p.Gln1195fs frameshift NM_001407963.1:c.3586del NP_001394892.1:p.Gln1196fs frameshift NM_001407964.1:c.3823del NP_001394893.1:p.Gln1275fs frameshift NM_001407965.1:c.3463del NP_001394894.1:p.Gln1155fs frameshift NM_001407966.1:c.3079del NP_001394895.1:p.Gln1027fs frameshift NM_001407967.1:c.3079del NP_001394896.1:p.Gln1027fs frameshift NM_001407968.1:c.1363del NP_001394897.1:p.Gln455fs frameshift NM_001407969.1:c.1363del NP_001394898.1:p.Gln455fs frameshift NM_001407970.1:c.788-532del intron variant NM_001407971.1:c.788-532del intron variant NM_001407972.1:c.785-532del intron variant NM_001407973.1:c.788-532del intron variant NM_001407974.1:c.788-532del intron variant NM_001407975.1:c.788-532del intron variant NM_001407976.1:c.788-532del intron variant NM_001407977.1:c.788-532del intron variant NM_001407978.1:c.788-532del intron variant NM_001407979.1:c.788-532del intron variant NM_001407980.1:c.788-532del intron variant NM_001407981.1:c.788-532del intron variant NM_001407982.1:c.788-532del intron variant NM_001407983.1:c.788-532del intron variant NM_001407984.1:c.785-532del intron variant NM_001407985.1:c.785-532del intron variant NM_001407986.1:c.785-532del intron variant NM_001407990.1:c.788-532del intron variant NM_001407991.1:c.785-532del intron variant NM_001407992.1:c.785-532del intron variant NM_001407993.1:c.788-532del intron variant NM_001408392.1:c.785-532del intron variant NM_001408396.1:c.785-532del intron variant NM_001408397.1:c.785-532del intron variant NM_001408398.1:c.785-532del intron variant NM_001408399.1:c.785-532del intron variant NM_001408400.1:c.785-532del intron variant NM_001408401.1:c.785-532del intron variant NM_001408402.1:c.785-532del intron variant NM_001408403.1:c.788-532del intron variant NM_001408404.1:c.788-532del intron variant NM_001408406.1:c.791-541del intron variant NM_001408407.1:c.785-532del intron variant NM_001408408.1:c.779-532del intron variant NM_001408409.1:c.710-532del intron variant NM_001408410.1:c.647-532del intron variant NM_001408411.1:c.710-532del intron variant NM_001408412.1:c.710-532del intron variant NM_001408413.1:c.707-532del intron variant NM_001408414.1:c.710-532del intron variant NM_001408415.1:c.710-532del intron variant NM_001408416.1:c.707-532del intron variant NM_001408418.1:c.671-532del intron variant NM_001408419.1:c.671-532del intron variant NM_001408420.1:c.671-532del intron variant NM_001408421.1:c.668-532del intron variant NM_001408422.1:c.671-532del intron variant NM_001408423.1:c.671-532del intron variant NM_001408424.1:c.668-532del intron variant NM_001408425.1:c.665-532del intron variant NM_001408426.1:c.665-532del intron variant NM_001408427.1:c.665-532del intron variant NM_001408428.1:c.665-532del intron variant NM_001408429.1:c.665-532del intron variant NM_001408430.1:c.665-532del intron variant NM_001408431.1:c.668-532del intron variant NM_001408432.1:c.662-532del intron variant NM_001408433.1:c.662-532del intron variant NM_001408434.1:c.662-532del intron variant NM_001408435.1:c.662-532del intron variant NM_001408436.1:c.665-532del intron variant NM_001408437.1:c.665-532del intron variant NM_001408438.1:c.665-532del intron variant NM_001408439.1:c.665-532del intron variant NM_001408440.1:c.665-532del intron variant NM_001408441.1:c.665-532del intron variant NM_001408442.1:c.665-532del intron variant NM_001408443.1:c.665-532del intron variant NM_001408444.1:c.665-532del intron variant NM_001408445.1:c.662-532del intron variant NM_001408446.1:c.662-532del intron variant NM_001408447.1:c.662-532del intron variant NM_001408448.1:c.662-532del intron variant NM_001408450.1:c.662-532del intron variant NM_001408451.1:c.653-532del intron variant NM_001408452.1:c.647-532del intron variant NM_001408453.1:c.647-532del intron variant NM_001408454.1:c.647-532del intron variant NM_001408455.1:c.647-532del intron variant NM_001408456.1:c.647-532del intron variant NM_001408457.1:c.647-532del intron variant NM_001408458.1:c.647-532del intron variant NM_001408459.1:c.647-532del intron variant NM_001408460.1:c.647-532del intron variant NM_001408461.1:c.647-532del intron variant NM_001408462.1:c.644-532del intron variant NM_001408463.1:c.644-532del intron variant NM_001408464.1:c.644-532del intron variant NM_001408465.1:c.644-532del intron variant NM_001408466.1:c.647-532del intron variant NM_001408467.1:c.647-532del intron variant NM_001408468.1:c.644-532del intron variant NM_001408469.1:c.647-532del intron variant NM_001408470.1:c.644-532del intron variant NM_001408472.1:c.788-532del intron variant NM_001408473.1:c.785-532del intron variant NM_001408474.1:c.587-532del intron variant NM_001408475.1:c.584-532del intron variant NM_001408476.1:c.587-532del intron variant NM_001408478.1:c.578-532del intron variant NM_001408479.1:c.578-532del intron variant NM_001408480.1:c.578-532del intron variant NM_001408481.1:c.578-532del intron variant NM_001408482.1:c.578-532del intron variant NM_001408483.1:c.578-532del intron variant NM_001408484.1:c.578-532del intron variant NM_001408485.1:c.578-532del intron variant NM_001408489.1:c.578-532del intron variant NM_001408490.1:c.575-532del intron variant NM_001408491.1:c.575-532del intron variant NM_001408492.1:c.578-532del intron variant NM_001408493.1:c.575-532del intron variant NM_001408494.1:c.548-532del intron variant NM_001408495.1:c.545-532del intron variant NM_001408496.1:c.524-532del intron variant NM_001408497.1:c.524-532del intron variant NM_001408498.1:c.524-532del intron variant NM_001408499.1:c.524-532del intron variant NM_001408500.1:c.524-532del intron variant NM_001408501.1:c.524-532del intron variant NM_001408502.1:c.455-532del intron variant NM_001408503.1:c.521-532del intron variant NM_001408504.1:c.521-532del intron variant NM_001408505.1:c.521-532del intron variant NM_001408506.1:c.461-532del intron variant NM_001408507.1:c.461-532del intron variant NM_001408508.1:c.452-532del intron variant NM_001408509.1:c.452-532del intron variant NM_001408510.1:c.407-532del intron variant NM_001408511.1:c.404-532del intron variant NM_001408512.1:c.284-532del intron variant NM_001408513.1:c.578-532del intron variant NM_001408514.1:c.578-532del intron variant NM_007297.4:c.3826del NP_009228.2:p.Gln1276fs frameshift NM_007298.4:c.788-532del intron variant NM_007299.4:c.788-532del intron variant NM_007300.4:c.3967del NP_009231.2:p.Gln1323fs frameshift NR_027676.1:n.4103delC NC_000017.11:g.43091564del NC_000017.10:g.41243581del NG_005905.2:g.126420del NG_087068.1:g.546del LRG_292:g.126420del LRG_292t1:c.3967del LRG_292p1:p.Gln1323Lysfs - Protein change
- Q1323fs, Q1276fs, Q1211fs, Q1235fs, Q1255fs, Q1297fs, Q1320fs, Q455fs, Q1195fs, Q1234fs, Q1253fs, Q1256fs, Q1275fs, Q1322fs, Q1281fs, Q1296fs, Q1027fs, Q1155fs, Q1196fs, Q1282fs, Q1212fs, Q1252fs
- Other names
- 4086delC
- Canonical SPDI
- NC_000017.11:43091563:G:
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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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 | ||
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12795 | 14565 | |
LOC126862571 | - | - | - | GRCh38 | - | 1622 |
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. |
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Pathogenic (1) |
criteria provided, single submitter
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Jan 9, 2023 | RCV000220986.11 | |
Pathogenic (2) |
reviewed by expert panel
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Oct 18, 2016 | RCV000257504.13 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Aug 16, 2018 | RCV000657205.12 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 29, 2023 | RCV003529965.1 |
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. |
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Pathogenic
(Oct 18, 2016)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323691.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Nov 03, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000887679.2
First in ClinVar: Jul 09, 2018 Last updated: Jan 03, 2022 |
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325801.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Jan 09, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000275675.5
First in ClinVar: May 29, 2016 Last updated: Apr 15, 2023 |
Comment:
The c.3967delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3967, causing … (more)
The c.3967delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3967, causing a translational frameshift with a predicted alternate stop codon (p.Q1323Kfs*2). This alteration was reported in one German breast and ovarian cancer family (Meyer P et al. Hum. Mutat. 2003 Sep; 22(3):259). 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)
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Pathogenic
(Aug 29, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV004296814.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Gln1323Lysfs*2) 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.Gln1323Lysfs*2) 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 BRCA1-related conditions (PMID: 12938098, 28888541). ClinVar contains an entry for this variant (Variation ID: 55063). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Aug 16, 2018)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000778931.2
First in ClinVar: Jul 09, 2018 Last updated: Apr 17, 2019 |
Comment:
This deletion of one nucleotide in BRCA1 is denoted c.3967delC at the cDNA level and p.Gln1323LysfsX2 (Q1323KfsX2) at the protein level. The normal sequence, with … (more)
This deletion of one nucleotide in BRCA1 is denoted c.3967delC at the cDNA level and p.Gln1323LysfsX2 (Q1323KfsX2) at the protein level. The normal sequence, with the base that is deleted in brackets, is CAAA[delC]AAAT. The deletion causes a frameshift which changes a Glutamine to a Lysine at codon 1323, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Also reported as BRCA1 c.4086delC using alternate nomenclature, this variant has been observed in at least one individual with a family history of breast and ovarian cancer (Meyer 2003). We consider this variant to be pathogenic. (less)
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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. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls. | Lilyquist J | Gynecologic oncology | 2017 | PMID: 28888541 |
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 |
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. | Meyer P | Human mutation | 2003 | PMID: 12938098 |
Text-mined citations for rs397509122 ...
HelpRecord last updated Apr 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.