Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3782del (p.Leu1261fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Sep 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3782del (p.Leu1261fs)
Variation ID: 55004 Accession: VCV000055004.14
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43091749 (GRCh38) [ NCBI UCSC ] 17: 41243766 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 May 1, 2024 Sep 8, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3782del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu1261fs frameshift NM_001407571.1:c.3569del NP_001394500.1:p.Leu1190fs frameshift NM_001407581.1:c.3782del NP_001394510.1:p.Leu1261fs frameshift NM_001407582.1:c.3782del NP_001394511.1:p.Leu1261fs frameshift NM_001407583.1:c.3782del NP_001394512.1:p.Leu1261fs frameshift NM_001407585.1:c.3782del NP_001394514.1:p.Leu1261fs frameshift NM_001407587.1:c.3779del NP_001394516.1:p.Leu1260fs frameshift NM_001407590.1:c.3779del NP_001394519.1:p.Leu1260fs frameshift NM_001407591.1:c.3779del NP_001394520.1:p.Leu1260fs frameshift NM_001407593.1:c.3782del NP_001394522.1:p.Leu1261fs frameshift NM_001407594.1:c.3782del NP_001394523.1:p.Leu1261fs frameshift NM_001407596.1:c.3782del NP_001394525.1:p.Leu1261fs frameshift NM_001407597.1:c.3782del NP_001394526.1:p.Leu1261fs frameshift NM_001407598.1:c.3782del NP_001394527.1:p.Leu1261fs frameshift NM_001407602.1:c.3782del NP_001394531.1:p.Leu1261fs frameshift NM_001407603.1:c.3782del NP_001394532.1:p.Leu1261fs frameshift NM_001407605.1:c.3782del NP_001394534.1:p.Leu1261fs frameshift NM_001407610.1:c.3779del NP_001394539.1:p.Leu1260fs frameshift NM_001407611.1:c.3779del NP_001394540.1:p.Leu1260fs frameshift NM_001407612.1:c.3779del NP_001394541.1:p.Leu1260fs frameshift NM_001407613.1:c.3779del NP_001394542.1:p.Leu1260fs frameshift NM_001407614.1:c.3779del NP_001394543.1:p.Leu1260fs frameshift NM_001407615.1:c.3779del NP_001394544.1:p.Leu1260fs frameshift NM_001407616.1:c.3782del NP_001394545.1:p.Leu1261fs frameshift NM_001407617.1:c.3782del NP_001394546.1:p.Leu1261fs frameshift NM_001407618.1:c.3782del NP_001394547.1:p.Leu1261fs frameshift NM_001407619.1:c.3782del NP_001394548.1:p.Leu1261fs frameshift NM_001407620.1:c.3782del NP_001394549.1:p.Leu1261fs frameshift NM_001407621.1:c.3782del NP_001394550.1:p.Leu1261fs frameshift NM_001407622.1:c.3782del NP_001394551.1:p.Leu1261fs frameshift NM_001407623.1:c.3782del NP_001394552.1:p.Leu1261fs frameshift NM_001407624.1:c.3782del NP_001394553.1:p.Leu1261fs frameshift NM_001407625.1:c.3782del NP_001394554.1:p.Leu1261fs frameshift NM_001407626.1:c.3782del NP_001394555.1:p.Leu1261fs frameshift NM_001407627.1:c.3779del NP_001394556.1:p.Leu1260fs frameshift NM_001407628.1:c.3779del NP_001394557.1:p.Leu1260fs frameshift NM_001407629.1:c.3779del NP_001394558.1:p.Leu1260fs frameshift NM_001407630.1:c.3779del NP_001394559.1:p.Leu1260fs frameshift NM_001407631.1:c.3779del NP_001394560.1:p.Leu1260fs frameshift NM_001407632.1:c.3779del NP_001394561.1:p.Leu1260fs frameshift NM_001407633.1:c.3779del NP_001394562.1:p.Leu1260fs frameshift NM_001407634.1:c.3779del NP_001394563.1:p.Leu1260fs frameshift NM_001407635.1:c.3779del NP_001394564.1:p.Leu1260fs frameshift NM_001407636.1:c.3779del NP_001394565.1:p.Leu1260fs frameshift NM_001407637.1:c.3779del NP_001394566.1:p.Leu1260fs frameshift NM_001407638.1:c.3779del NP_001394567.1:p.Leu1260fs frameshift NM_001407639.1:c.3782del NP_001394568.1:p.Leu1261fs frameshift NM_001407640.1:c.3782del NP_001394569.1:p.Leu1261fs frameshift NM_001407641.1:c.3782del NP_001394570.1:p.Leu1261fs frameshift NM_001407642.1:c.3782del NP_001394571.1:p.Leu1261fs frameshift NM_001407644.1:c.3779del NP_001394573.1:p.Leu1260fs frameshift NM_001407645.1:c.3779del NP_001394574.1:p.Leu1260fs frameshift NM_001407646.1:c.3773del NP_001394575.1:p.Leu1258fs frameshift NM_001407647.1:c.3773del NP_001394576.1:p.Leu1258fs frameshift NM_001407648.1:c.3659del NP_001394577.1:p.Leu1220fs frameshift NM_001407649.1:c.3656del NP_001394578.1:p.Leu1219fs frameshift NM_001407652.1:c.3782del NP_001394581.1:p.Leu1261fs frameshift NM_001407653.1:c.3704del NP_001394582.1:p.Leu1235fs frameshift NM_001407654.1:c.3704del NP_001394583.1:p.Leu1235fs frameshift NM_001407655.1:c.3704del NP_001394584.1:p.Leu1235fs frameshift NM_001407656.1:c.3704del NP_001394585.1:p.Leu1235fs frameshift NM_001407657.1:c.3704del NP_001394586.1:p.Leu1235fs frameshift NM_001407658.1:c.3704del NP_001394587.1:p.Leu1235fs frameshift NM_001407659.1:c.3701del NP_001394588.1:p.Leu1234fs frameshift NM_001407660.1:c.3701del NP_001394589.1:p.Leu1234fs frameshift NM_001407661.1:c.3701del NP_001394590.1:p.Leu1234fs frameshift NM_001407662.1:c.3701del NP_001394591.1:p.Leu1234fs frameshift NM_001407663.1:c.3704del NP_001394592.1:p.Leu1235fs frameshift NM_001407664.1:c.3659del NP_001394593.1:p.Leu1220fs frameshift NM_001407665.1:c.3659del NP_001394594.1:p.Leu1220fs frameshift NM_001407666.1:c.3659del NP_001394595.1:p.Leu1220fs frameshift NM_001407667.1:c.3659del NP_001394596.1:p.Leu1220fs frameshift NM_001407668.1:c.3659del NP_001394597.1:p.Leu1220fs frameshift NM_001407669.1:c.3659del NP_001394598.1:p.Leu1220fs frameshift NM_001407670.1:c.3656del NP_001394599.1:p.Leu1219fs frameshift NM_001407671.1:c.3656del NP_001394600.1:p.Leu1219fs frameshift NM_001407672.1:c.3656del NP_001394601.1:p.Leu1219fs frameshift NM_001407673.1:c.3656del NP_001394602.1:p.Leu1219fs frameshift NM_001407674.1:c.3659del NP_001394603.1:p.Leu1220fs frameshift NM_001407675.1:c.3659del NP_001394604.1:p.Leu1220fs frameshift NM_001407676.1:c.3659del NP_001394605.1:p.Leu1220fs frameshift NM_001407677.1:c.3659del NP_001394606.1:p.Leu1220fs frameshift NM_001407678.1:c.3659del NP_001394607.1:p.Leu1220fs frameshift NM_001407679.1:c.3659del NP_001394608.1:p.Leu1220fs frameshift NM_001407680.1:c.3659del NP_001394609.1:p.Leu1220fs frameshift NM_001407681.1:c.3659del NP_001394610.1:p.Leu1220fs frameshift NM_001407682.1:c.3659del NP_001394611.1:p.Leu1220fs frameshift NM_001407683.1:c.3659del NP_001394612.1:p.Leu1220fs frameshift NM_001407684.1:c.3782del NP_001394613.1:p.Leu1261fs frameshift NM_001407685.1:c.3656del NP_001394614.1:p.Leu1219fs frameshift NM_001407686.1:c.3656del NP_001394615.1:p.Leu1219fs frameshift NM_001407687.1:c.3656del NP_001394616.1:p.Leu1219fs frameshift NM_001407688.1:c.3656del NP_001394617.1:p.Leu1219fs frameshift NM_001407689.1:c.3656del NP_001394618.1:p.Leu1219fs frameshift NM_001407690.1:c.3656del NP_001394619.1:p.Leu1219fs frameshift NM_001407691.1:c.3656del NP_001394620.1:p.Leu1219fs frameshift NM_001407692.1:c.3641del NP_001394621.1:p.Leu1214fs frameshift NM_001407694.1:c.3641del NP_001394623.1:p.Leu1214fs frameshift NM_001407695.1:c.3641del NP_001394624.1:p.Leu1214fs frameshift NM_001407696.1:c.3641del NP_001394625.1:p.Leu1214fs frameshift NM_001407697.1:c.3641del NP_001394626.1:p.Leu1214fs frameshift NM_001407698.1:c.3641del NP_001394627.1:p.Leu1214fs frameshift NM_001407724.1:c.3641del NP_001394653.1:p.Leu1214fs frameshift NM_001407725.1:c.3641del NP_001394654.1:p.Leu1214fs frameshift NM_001407726.1:c.3641del NP_001394655.1:p.Leu1214fs frameshift NM_001407727.1:c.3641del NP_001394656.1:p.Leu1214fs frameshift NM_001407728.1:c.3641del NP_001394657.1:p.Leu1214fs frameshift NM_001407729.1:c.3641del NP_001394658.1:p.Leu1214fs frameshift NM_001407730.1:c.3641del NP_001394659.1:p.Leu1214fs frameshift NM_001407731.1:c.3641del NP_001394660.1:p.Leu1214fs frameshift NM_001407732.1:c.3641del NP_001394661.1:p.Leu1214fs frameshift NM_001407733.1:c.3641del NP_001394662.1:p.Leu1214fs frameshift NM_001407734.1:c.3641del NP_001394663.1:p.Leu1214fs frameshift NM_001407735.1:c.3641del NP_001394664.1:p.Leu1214fs frameshift NM_001407736.1:c.3641del NP_001394665.1:p.Leu1214fs frameshift NM_001407737.1:c.3641del NP_001394666.1:p.Leu1214fs frameshift NM_001407738.1:c.3641del NP_001394667.1:p.Leu1214fs frameshift NM_001407739.1:c.3641del NP_001394668.1:p.Leu1214fs frameshift NM_001407740.1:c.3638del NP_001394669.1:p.Leu1213fs frameshift NM_001407741.1:c.3638del NP_001394670.1:p.Leu1213fs frameshift NM_001407742.1:c.3638del NP_001394671.1:p.Leu1213fs frameshift NM_001407743.1:c.3638del NP_001394672.1:p.Leu1213fs frameshift NM_001407744.1:c.3638del NP_001394673.1:p.Leu1213fs frameshift NM_001407745.1:c.3638del NP_001394674.1:p.Leu1213fs frameshift NM_001407746.1:c.3638del NP_001394675.1:p.Leu1213fs frameshift NM_001407747.1:c.3638del NP_001394676.1:p.Leu1213fs frameshift NM_001407748.1:c.3638del NP_001394677.1:p.Leu1213fs frameshift NM_001407749.1:c.3638del NP_001394678.1:p.Leu1213fs frameshift NM_001407750.1:c.3641del NP_001394679.1:p.Leu1214fs frameshift NM_001407751.1:c.3641del NP_001394680.1:p.Leu1214fs frameshift NM_001407752.1:c.3641del NP_001394681.1:p.Leu1214fs frameshift NM_001407838.1:c.3638del NP_001394767.1:p.Leu1213fs frameshift NM_001407839.1:c.3638del NP_001394768.1:p.Leu1213fs frameshift NM_001407841.1:c.3638del NP_001394770.1:p.Leu1213fs frameshift NM_001407842.1:c.3638del NP_001394771.1:p.Leu1213fs frameshift NM_001407843.1:c.3638del NP_001394772.1:p.Leu1213fs frameshift NM_001407844.1:c.3638del NP_001394773.1:p.Leu1213fs frameshift NM_001407845.1:c.3638del NP_001394774.1:p.Leu1213fs frameshift NM_001407846.1:c.3638del NP_001394775.1:p.Leu1213fs frameshift NM_001407847.1:c.3638del NP_001394776.1:p.Leu1213fs frameshift NM_001407848.1:c.3638del NP_001394777.1:p.Leu1213fs frameshift NM_001407849.1:c.3638del NP_001394778.1:p.Leu1213fs frameshift NM_001407850.1:c.3641del NP_001394779.1:p.Leu1214fs frameshift NM_001407851.1:c.3641del NP_001394780.1:p.Leu1214fs frameshift NM_001407852.1:c.3641del NP_001394781.1:p.Leu1214fs frameshift NM_001407853.1:c.3569del NP_001394782.1:p.Leu1190fs frameshift NM_001407854.1:c.3782del NP_001394783.1:p.Leu1261fs frameshift NM_001407858.1:c.3782del NP_001394787.1:p.Leu1261fs frameshift NM_001407859.1:c.3782del NP_001394788.1:p.Leu1261fs frameshift NM_001407860.1:c.3779del NP_001394789.1:p.Leu1260fs frameshift NM_001407861.1:c.3779del NP_001394790.1:p.Leu1260fs frameshift NM_001407862.1:c.3581del NP_001394791.1:p.Leu1194fs frameshift NM_001407863.1:c.3659del NP_001394792.1:p.Leu1220fs frameshift NM_001407874.1:c.3578del NP_001394803.1:p.Leu1193fs frameshift NM_001407875.1:c.3578del NP_001394804.1:p.Leu1193fs frameshift NM_001407879.1:c.3572del NP_001394808.1:p.Leu1191fs frameshift NM_001407881.1:c.3572del NP_001394810.1:p.Leu1191fs frameshift NM_001407882.1:c.3572del NP_001394811.1:p.Leu1191fs frameshift NM_001407884.1:c.3572del NP_001394813.1:p.Leu1191fs frameshift NM_001407885.1:c.3572del NP_001394814.1:p.Leu1191fs frameshift NM_001407886.1:c.3572del NP_001394815.1:p.Leu1191fs frameshift NM_001407887.1:c.3572del NP_001394816.1:p.Leu1191fs frameshift NM_001407889.1:c.3572del NP_001394818.1:p.Leu1191fs frameshift NM_001407894.1:c.3569del NP_001394823.1:p.Leu1190fs frameshift NM_001407895.1:c.3569del NP_001394824.1:p.Leu1190fs frameshift NM_001407896.1:c.3569del NP_001394825.1:p.Leu1190fs frameshift NM_001407897.1:c.3569del NP_001394826.1:p.Leu1190fs frameshift NM_001407898.1:c.3569del NP_001394827.1:p.Leu1190fs frameshift NM_001407899.1:c.3569del NP_001394828.1:p.Leu1190fs frameshift NM_001407900.1:c.3572del NP_001394829.1:p.Leu1191fs frameshift NM_001407902.1:c.3572del NP_001394831.1:p.Leu1191fs frameshift NM_001407904.1:c.3572del NP_001394833.1:p.Leu1191fs frameshift NM_001407906.1:c.3572del NP_001394835.1:p.Leu1191fs frameshift NM_001407907.1:c.3572del NP_001394836.1:p.Leu1191fs frameshift NM_001407908.1:c.3572del NP_001394837.1:p.Leu1191fs frameshift NM_001407909.1:c.3572del NP_001394838.1:p.Leu1191fs frameshift NM_001407910.1:c.3572del NP_001394839.1:p.Leu1191fs frameshift NM_001407915.1:c.3569del NP_001394844.1:p.Leu1190fs frameshift NM_001407916.1:c.3569del NP_001394845.1:p.Leu1190fs frameshift NM_001407917.1:c.3569del NP_001394846.1:p.Leu1190fs frameshift NM_001407918.1:c.3569del NP_001394847.1:p.Leu1190fs frameshift NM_001407919.1:c.3659del NP_001394848.1:p.Leu1220fs frameshift NM_001407920.1:c.3518del NP_001394849.1:p.Leu1173fs frameshift NM_001407921.1:c.3518del NP_001394850.1:p.Leu1173fs frameshift NM_001407922.1:c.3518del NP_001394851.1:p.Leu1173fs frameshift NM_001407923.1:c.3518del NP_001394852.1:p.Leu1173fs frameshift NM_001407924.1:c.3518del NP_001394853.1:p.Leu1173fs frameshift NM_001407925.1:c.3518del NP_001394854.1:p.Leu1173fs frameshift NM_001407926.1:c.3518del NP_001394855.1:p.Leu1173fs frameshift NM_001407927.1:c.3518del NP_001394856.1:p.Leu1173fs frameshift NM_001407928.1:c.3518del NP_001394857.1:p.Leu1173fs frameshift NM_001407929.1:c.3518del NP_001394858.1:p.Leu1173fs frameshift NM_001407930.1:c.3515del NP_001394859.1:p.Leu1172fs frameshift NM_001407931.1:c.3515del NP_001394860.1:p.Leu1172fs frameshift NM_001407932.1:c.3515del NP_001394861.1:p.Leu1172fs frameshift NM_001407933.1:c.3518del NP_001394862.1:p.Leu1173fs frameshift NM_001407934.1:c.3515del NP_001394863.1:p.Leu1172fs frameshift NM_001407935.1:c.3518del NP_001394864.1:p.Leu1173fs frameshift NM_001407936.1:c.3515del NP_001394865.1:p.Leu1172fs frameshift NM_001407937.1:c.3659del NP_001394866.1:p.Leu1220fs frameshift NM_001407938.1:c.3659del NP_001394867.1:p.Leu1220fs frameshift NM_001407939.1:c.3659del NP_001394868.1:p.Leu1220fs frameshift NM_001407940.1:c.3656del NP_001394869.1:p.Leu1219fs frameshift NM_001407941.1:c.3656del NP_001394870.1:p.Leu1219fs frameshift NM_001407942.1:c.3641del NP_001394871.1:p.Leu1214fs frameshift NM_001407943.1:c.3638del NP_001394872.1:p.Leu1213fs frameshift NM_001407944.1:c.3641del NP_001394873.1:p.Leu1214fs frameshift NM_001407945.1:c.3641del NP_001394874.1:p.Leu1214fs frameshift NM_001407946.1:c.3449del NP_001394875.1:p.Leu1150fs frameshift NM_001407947.1:c.3449del NP_001394876.1:p.Leu1150fs frameshift NM_001407948.1:c.3449del NP_001394877.1:p.Leu1150fs frameshift NM_001407949.1:c.3449del NP_001394878.1:p.Leu1150fs frameshift NM_001407950.1:c.3449del NP_001394879.1:p.Leu1150fs frameshift NM_001407951.1:c.3449del NP_001394880.1:p.Leu1150fs frameshift NM_001407952.1:c.3449del NP_001394881.1:p.Leu1150fs frameshift NM_001407953.1:c.3449del NP_001394882.1:p.Leu1150fs frameshift NM_001407954.1:c.3446del NP_001394883.1:p.Leu1149fs frameshift NM_001407955.1:c.3446del NP_001394884.1:p.Leu1149fs frameshift NM_001407956.1:c.3446del NP_001394885.1:p.Leu1149fs frameshift NM_001407957.1:c.3449del NP_001394886.1:p.Leu1150fs frameshift NM_001407958.1:c.3446del NP_001394887.1:p.Leu1149fs frameshift NM_001407959.1:c.3401del NP_001394888.1:p.Leu1134fs frameshift NM_001407960.1:c.3401del NP_001394889.1:p.Leu1134fs frameshift NM_001407962.1:c.3398del NP_001394891.1:p.Leu1133fs frameshift NM_001407963.1:c.3401del NP_001394892.1:p.Leu1134fs frameshift NM_001407964.1:c.3638del NP_001394893.1:p.Leu1213fs frameshift NM_001407965.1:c.3278del NP_001394894.1:p.Leu1093fs frameshift NM_001407966.1:c.2894del NP_001394895.1:p.Leu965fs frameshift NM_001407967.1:c.2894del NP_001394896.1:p.Leu965fs frameshift NM_001407968.1:c.1178del NP_001394897.1:p.Leu393fs frameshift NM_001407969.1:c.1178del NP_001394898.1:p.Leu393fs frameshift NM_001407970.1:c.788-717del intron variant NM_001407971.1:c.788-717del intron variant NM_001407972.1:c.785-717del intron variant NM_001407973.1:c.788-717del intron variant NM_001407974.1:c.788-717del intron variant NM_001407975.1:c.788-717del intron variant NM_001407976.1:c.788-717del intron variant NM_001407977.1:c.788-717del intron variant NM_001407978.1:c.788-717del intron variant NM_001407979.1:c.788-717del intron variant NM_001407980.1:c.788-717del intron variant NM_001407981.1:c.788-717del intron variant NM_001407982.1:c.788-717del intron variant NM_001407983.1:c.788-717del intron variant NM_001407984.1:c.785-717del intron variant NM_001407985.1:c.785-717del intron variant NM_001407986.1:c.785-717del intron variant NM_001407990.1:c.788-717del intron variant NM_001407991.1:c.785-717del intron variant NM_001407992.1:c.785-717del intron variant NM_001407993.1:c.788-717del intron variant NM_001408392.1:c.785-717del intron variant NM_001408396.1:c.785-717del intron variant NM_001408397.1:c.785-717del intron variant NM_001408398.1:c.785-717del intron variant NM_001408399.1:c.785-717del intron variant NM_001408400.1:c.785-717del intron variant NM_001408401.1:c.785-717del intron variant NM_001408402.1:c.785-717del intron variant NM_001408403.1:c.788-717del intron variant NM_001408404.1:c.788-717del intron variant NM_001408406.1:c.791-726del intron variant NM_001408407.1:c.785-717del intron variant NM_001408408.1:c.779-717del intron variant NM_001408409.1:c.710-717del intron variant NM_001408410.1:c.647-717del intron variant NM_001408411.1:c.710-717del intron variant NM_001408412.1:c.710-717del intron variant NM_001408413.1:c.707-717del intron variant NM_001408414.1:c.710-717del intron variant NM_001408415.1:c.710-717del intron variant NM_001408416.1:c.707-717del intron variant NM_001408418.1:c.671-717del intron variant NM_001408419.1:c.671-717del intron variant NM_001408420.1:c.671-717del intron variant NM_001408421.1:c.668-717del intron variant NM_001408422.1:c.671-717del intron variant NM_001408423.1:c.671-717del intron variant NM_001408424.1:c.668-717del intron variant NM_001408425.1:c.665-717del intron variant NM_001408426.1:c.665-717del intron variant NM_001408427.1:c.665-717del intron variant NM_001408428.1:c.665-717del intron variant NM_001408429.1:c.665-717del intron variant NM_001408430.1:c.665-717del intron variant NM_001408431.1:c.668-717del intron variant NM_001408432.1:c.662-717del intron variant NM_001408433.1:c.662-717del intron variant NM_001408434.1:c.662-717del intron variant NM_001408435.1:c.662-717del intron variant NM_001408436.1:c.665-717del intron variant NM_001408437.1:c.665-717del intron variant NM_001408438.1:c.665-717del intron variant NM_001408439.1:c.665-717del intron variant NM_001408440.1:c.665-717del intron variant NM_001408441.1:c.665-717del intron variant NM_001408442.1:c.665-717del intron variant NM_001408443.1:c.665-717del intron variant NM_001408444.1:c.665-717del intron variant NM_001408445.1:c.662-717del intron variant NM_001408446.1:c.662-717del intron variant NM_001408447.1:c.662-717del intron variant NM_001408448.1:c.662-717del intron variant NM_001408450.1:c.662-717del intron variant NM_001408451.1:c.653-717del intron variant NM_001408452.1:c.647-717del intron variant NM_001408453.1:c.647-717del intron variant NM_001408454.1:c.647-717del intron variant NM_001408455.1:c.647-717del intron variant NM_001408456.1:c.647-717del intron variant NM_001408457.1:c.647-717del intron variant NM_001408458.1:c.647-717del intron variant NM_001408459.1:c.647-717del intron variant NM_001408460.1:c.647-717del intron variant NM_001408461.1:c.647-717del intron variant NM_001408462.1:c.644-717del intron variant NM_001408463.1:c.644-717del intron variant NM_001408464.1:c.644-717del intron variant NM_001408465.1:c.644-717del intron variant NM_001408466.1:c.647-717del intron variant NM_001408467.1:c.647-717del intron variant NM_001408468.1:c.644-717del intron variant NM_001408469.1:c.647-717del intron variant NM_001408470.1:c.644-717del intron variant NM_001408472.1:c.788-717del intron variant NM_001408473.1:c.785-717del intron variant NM_001408474.1:c.587-717del intron variant NM_001408475.1:c.584-717del intron variant NM_001408476.1:c.587-717del intron variant NM_001408478.1:c.578-717del intron variant NM_001408479.1:c.578-717del intron variant NM_001408480.1:c.578-717del intron variant NM_001408481.1:c.578-717del intron variant NM_001408482.1:c.578-717del intron variant NM_001408483.1:c.578-717del intron variant NM_001408484.1:c.578-717del intron variant NM_001408485.1:c.578-717del intron variant NM_001408489.1:c.578-717del intron variant NM_001408490.1:c.575-717del intron variant NM_001408491.1:c.575-717del intron variant NM_001408492.1:c.578-717del intron variant NM_001408493.1:c.575-717del intron variant NM_001408494.1:c.548-717del intron variant NM_001408495.1:c.545-717del intron variant NM_001408496.1:c.524-717del intron variant NM_001408497.1:c.524-717del intron variant NM_001408498.1:c.524-717del intron variant NM_001408499.1:c.524-717del intron variant NM_001408500.1:c.524-717del intron variant NM_001408501.1:c.524-717del intron variant NM_001408502.1:c.455-717del intron variant NM_001408503.1:c.521-717del intron variant NM_001408504.1:c.521-717del intron variant NM_001408505.1:c.521-717del intron variant NM_001408506.1:c.461-717del intron variant NM_001408507.1:c.461-717del intron variant NM_001408508.1:c.452-717del intron variant NM_001408509.1:c.452-717del intron variant NM_001408510.1:c.407-717del intron variant NM_001408511.1:c.404-717del intron variant NM_001408512.1:c.284-717del intron variant NM_001408513.1:c.578-717del intron variant NM_001408514.1:c.578-717del intron variant NM_007294.3:c.3782delT frameshift NM_007297.4:c.3641del NP_009228.2:p.Leu1214fs frameshift NM_007298.4:c.788-717del intron variant NM_007299.4:c.788-717del intron variant NM_007300.4:c.3782del NP_009231.2:p.Leu1261fs frameshift NR_027676.1:n.3917delT NC_000017.11:g.43091750del NC_000017.10:g.41243767del NG_005905.2:g.126235del NG_087068.1:g.732del LRG_292:g.126235del LRG_292t1:c.3781del LRG_292p1:p.Leu1261Tyrfs U14680.1:n.3901delT - Protein change
- L1214fs, L1261fs, L1172fs, L1190fs, L1194fs, L1235fs, L1149fs, L1173fs, L1191fs, L1219fs, L1220fs, L1093fs, L1133fs, L1234fs, L1258fs, L393fs, L1134fs, L1150fs, L1193fs, L1213fs, L1260fs, L965fs
- Other names
-
3901delT
- Canonical SPDI
- NC_000017.11:43091748:AA:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13040 | 14846 | |
| LOC126862571 | - | - | - | GRCh38 | - | 1651 |
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 (4) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000112184.8 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Sep 22, 2023 | RCV001383191.8 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Aug 25, 2023 | RCV003338398.3 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Sep 08, 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: SCV000300020.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
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: SCV000325755.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Jul 19, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004817748.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Comment:
This variant deletes 1 nucleotide in exon 10 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 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been identified in 1 family among CIMBA participants (PMID: 29446198; https://cimba.ccge.medschl.cam.ac.uk/). 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)
Number of individuals with the variant: 1
|
|
|
Pathogenic
(Aug 25, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV004058462.2
First in ClinVar: Oct 28, 2023 Last updated: May 01, 2024 |
Comment:
The c.3782delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3782, causing … (more)
The c.3782delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3782, causing a translational frameshift with a predicted alternate stop codon (p.L1261Yfs*3). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
|
|
|
Pathogenic
(Sep 22, 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: SCV001582264.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Leu1261Tyrfs*3) 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.Leu1261Tyrfs*3) 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: 10923033, 21520333). This variant is also known as 3901delT. ClinVar contains an entry for this variant (Variation ID: 55004). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
Pathogenic
(Mar 22, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV004360214.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 1 nucleotide in exon 10 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 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been identified in 1 family among CIMBA participants (PMID: 29446198; https://cimba.ccge.medschl.cam.ac.uk/). 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)
|
|
|
Pathogenic
(May 29, 2002)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144879.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Italy
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
|
Comment:
Comment:
This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been identified in 1 family among CIMBA participants (PMID: 29446198; https://cimba.ccge.medschl.cam.ac.uk/). 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.
Comment:
The c.3782delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3782, causing a translational frameshift with a predicted alternate stop codon (p.L1261Yfs*3). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Comment:
This sequence change creates a premature translational stop signal (p.Leu1261Tyrfs*3) 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: 10923033, 21520333). This variant is also known as 3901delT. ClinVar contains an entry for this variant (Variation ID: 55004). For these reasons, this variant has been classified as Pathogenic.
Comment:
This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been identified in 1 family among CIMBA participants (PMID: 29446198; https://cimba.ccge.medschl.cam.ac.uk/). 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.
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 variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been identified in 1 family among CIMBA participants (PMID: 29446198; https://cimba.ccge.medschl.cam.ac.uk/). 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.
Comment:
The c.3782delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3782, causing a translational frameshift with a predicted alternate stop codon (p.L1261Yfs*3). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Comment:
This sequence change creates a premature translational stop signal (p.Leu1261Tyrfs*3) 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: 10923033, 21520333). This variant is also known as 3901delT. ClinVar contains an entry for this variant (Variation ID: 55004). For these reasons, this variant has been classified as Pathogenic.
Comment:
This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been identified in 1 family among CIMBA participants (PMID: 29446198; https://cimba.ccge.medschl.cam.ac.uk/). 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| 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 |
| LOVD v.2.0: the next generation in gene variant databases. | Fokkema IF | Human mutation | 2011 | PMID: 21520333 |
| 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 |
| The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
Text-mined citations for rs80357545 ...
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 Oct 08, 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.