Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs)
Germline
Reviewed by expert panel
Help
Reviewed by expert panel. Learn more about how ClinVar calculates review status.
Pathogenic
for
Breast-ovarian cancer, familial, susceptibility to, 1
Classification is based on the expert panel submission
Sep 2016 by
Evidence-based Network for the Interpretation of Germline M…
Help
The classification is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs)
Variation ID: 37545 Accession: VCV000037545.63
- Type and length
-
Duplication, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43091766-43091767 (GRCh38) [ NCBI UCSC ] 17: 41243783-41243784 (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 Feb 25, 2025 Sep 8, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3764dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asn1255fs frameshift NM_001407571.1:c.3551dup NP_001394500.1:p.Asn1184fs frameshift NM_001407581.1:c.3764dup NP_001394510.1:p.Asn1255fs frameshift NM_001407582.1:c.3764dup NP_001394511.1:p.Asn1255fs frameshift NM_001407583.1:c.3764dup NP_001394512.1:p.Asn1255fs frameshift NM_001407585.1:c.3764dup NP_001394514.1:p.Asn1255fs frameshift NM_001407587.1:c.3761dup NP_001394516.1:p.Asn1254fs frameshift NM_001407590.1:c.3761dup NP_001394519.1:p.Asn1254fs frameshift NM_001407591.1:c.3761dup NP_001394520.1:p.Asn1254fs frameshift NM_001407593.1:c.3764dup NP_001394522.1:p.Asn1255fs frameshift NM_001407594.1:c.3764dup NP_001394523.1:p.Asn1255fs frameshift NM_001407596.1:c.3764dup NP_001394525.1:p.Asn1255fs frameshift NM_001407597.1:c.3764dup NP_001394526.1:p.Asn1255fs frameshift NM_001407598.1:c.3764dup NP_001394527.1:p.Asn1255fs frameshift NM_001407602.1:c.3764dup NP_001394531.1:p.Asn1255fs frameshift NM_001407603.1:c.3764dup NP_001394532.1:p.Asn1255fs frameshift NM_001407605.1:c.3764dup NP_001394534.1:p.Asn1255fs frameshift NM_001407610.1:c.3761dup NP_001394539.1:p.Asn1254fs frameshift NM_001407611.1:c.3761dup NP_001394540.1:p.Asn1254fs frameshift NM_001407612.1:c.3761dup NP_001394541.1:p.Asn1254fs frameshift NM_001407613.1:c.3761dup NP_001394542.1:p.Asn1254fs frameshift NM_001407614.1:c.3761dup NP_001394543.1:p.Asn1254fs frameshift NM_001407615.1:c.3761dup NP_001394544.1:p.Asn1254fs frameshift NM_001407616.1:c.3764dup NP_001394545.1:p.Asn1255fs frameshift NM_001407617.1:c.3764dup NP_001394546.1:p.Asn1255fs frameshift NM_001407618.1:c.3764dup NP_001394547.1:p.Asn1255fs frameshift NM_001407619.1:c.3764dup NP_001394548.1:p.Asn1255fs frameshift NM_001407620.1:c.3764dup NP_001394549.1:p.Asn1255fs frameshift NM_001407621.1:c.3764dup NP_001394550.1:p.Asn1255fs frameshift NM_001407622.1:c.3764dup NP_001394551.1:p.Asn1255fs frameshift NM_001407623.1:c.3764dup NP_001394552.1:p.Asn1255fs frameshift NM_001407624.1:c.3764dup NP_001394553.1:p.Asn1255fs frameshift NM_001407625.1:c.3764dup NP_001394554.1:p.Asn1255fs frameshift NM_001407626.1:c.3764dup NP_001394555.1:p.Asn1255fs frameshift NM_001407627.1:c.3761dup NP_001394556.1:p.Asn1254fs frameshift NM_001407628.1:c.3761dup NP_001394557.1:p.Asn1254fs frameshift NM_001407629.1:c.3761dup NP_001394558.1:p.Asn1254fs frameshift NM_001407630.1:c.3761dup NP_001394559.1:p.Asn1254fs frameshift NM_001407631.1:c.3761dup NP_001394560.1:p.Asn1254fs frameshift NM_001407632.1:c.3761dup NP_001394561.1:p.Asn1254fs frameshift NM_001407633.1:c.3761dup NP_001394562.1:p.Asn1254fs frameshift NM_001407634.1:c.3761dup NP_001394563.1:p.Asn1254fs frameshift NM_001407635.1:c.3761dup NP_001394564.1:p.Asn1254fs frameshift NM_001407636.1:c.3761dup NP_001394565.1:p.Asn1254fs frameshift NM_001407637.1:c.3761dup NP_001394566.1:p.Asn1254fs frameshift NM_001407638.1:c.3761dup NP_001394567.1:p.Asn1254fs frameshift NM_001407639.1:c.3764dup NP_001394568.1:p.Asn1255fs frameshift NM_001407640.1:c.3764dup NP_001394569.1:p.Asn1255fs frameshift NM_001407641.1:c.3764dup NP_001394570.1:p.Asn1255fs frameshift NM_001407642.1:c.3764dup NP_001394571.1:p.Asn1255fs frameshift NM_001407644.1:c.3761dup NP_001394573.1:p.Asn1254fs frameshift NM_001407645.1:c.3761dup NP_001394574.1:p.Asn1254fs frameshift NM_001407646.1:c.3755dup NP_001394575.1:p.Asn1252fs frameshift NM_001407647.1:c.3755dup NP_001394576.1:p.Asn1252fs frameshift NM_001407648.1:c.3641dup NP_001394577.1:p.Asn1214fs frameshift NM_001407649.1:c.3638dup NP_001394578.1:p.Asn1213fs frameshift NM_001407652.1:c.3764dup NP_001394581.1:p.Asn1255fs frameshift NM_001407653.1:c.3686dup NP_001394582.1:p.Asn1229fs frameshift NM_001407654.1:c.3686dup NP_001394583.1:p.Asn1229fs frameshift NM_001407655.1:c.3686dup NP_001394584.1:p.Asn1229fs frameshift NM_001407656.1:c.3686dup NP_001394585.1:p.Asn1229fs frameshift NM_001407657.1:c.3686dup NP_001394586.1:p.Asn1229fs frameshift NM_001407658.1:c.3686dup NP_001394587.1:p.Asn1229fs frameshift NM_001407659.1:c.3683dup NP_001394588.1:p.Asn1228fs frameshift NM_001407660.1:c.3683dup NP_001394589.1:p.Asn1228fs frameshift NM_001407661.1:c.3683dup NP_001394590.1:p.Asn1228fs frameshift NM_001407662.1:c.3683dup NP_001394591.1:p.Asn1228fs frameshift NM_001407663.1:c.3686dup NP_001394592.1:p.Asn1229fs frameshift NM_001407664.1:c.3641dup NP_001394593.1:p.Asn1214fs frameshift NM_001407665.1:c.3641dup NP_001394594.1:p.Asn1214fs frameshift NM_001407666.1:c.3641dup NP_001394595.1:p.Asn1214fs frameshift NM_001407667.1:c.3641dup NP_001394596.1:p.Asn1214fs frameshift NM_001407668.1:c.3641dup NP_001394597.1:p.Asn1214fs frameshift NM_001407669.1:c.3641dup NP_001394598.1:p.Asn1214fs frameshift NM_001407670.1:c.3638dup NP_001394599.1:p.Asn1213fs frameshift NM_001407671.1:c.3638dup NP_001394600.1:p.Asn1213fs frameshift NM_001407672.1:c.3638dup NP_001394601.1:p.Asn1213fs frameshift NM_001407673.1:c.3638dup NP_001394602.1:p.Asn1213fs frameshift NM_001407674.1:c.3641dup NP_001394603.1:p.Asn1214fs frameshift NM_001407675.1:c.3641dup NP_001394604.1:p.Asn1214fs frameshift NM_001407676.1:c.3641dup NP_001394605.1:p.Asn1214fs frameshift NM_001407677.1:c.3641dup NP_001394606.1:p.Asn1214fs frameshift NM_001407678.1:c.3641dup NP_001394607.1:p.Asn1214fs frameshift NM_001407679.1:c.3641dup NP_001394608.1:p.Asn1214fs frameshift NM_001407680.1:c.3641dup NP_001394609.1:p.Asn1214fs frameshift NM_001407681.1:c.3641dup NP_001394610.1:p.Asn1214fs frameshift NM_001407682.1:c.3641dup NP_001394611.1:p.Asn1214fs frameshift NM_001407683.1:c.3641dup NP_001394612.1:p.Asn1214fs frameshift NM_001407684.1:c.3764dup NP_001394613.1:p.Asn1255fs frameshift NM_001407685.1:c.3638dup NP_001394614.1:p.Asn1213fs frameshift NM_001407686.1:c.3638dup NP_001394615.1:p.Asn1213fs frameshift NM_001407687.1:c.3638dup NP_001394616.1:p.Asn1213fs frameshift NM_001407688.1:c.3638dup NP_001394617.1:p.Asn1213fs frameshift NM_001407689.1:c.3638dup NP_001394618.1:p.Asn1213fs frameshift NM_001407690.1:c.3638dup NP_001394619.1:p.Asn1213fs frameshift NM_001407691.1:c.3638dup NP_001394620.1:p.Asn1213fs frameshift NM_001407692.1:c.3623dup NP_001394621.1:p.Asn1208fs frameshift NM_001407694.1:c.3623dup NP_001394623.1:p.Asn1208fs frameshift NM_001407695.1:c.3623dup NP_001394624.1:p.Asn1208fs frameshift NM_001407696.1:c.3623dup NP_001394625.1:p.Asn1208fs frameshift NM_001407697.1:c.3623dup NP_001394626.1:p.Asn1208fs frameshift NM_001407698.1:c.3623dup NP_001394627.1:p.Asn1208fs frameshift NM_001407724.1:c.3623dup NP_001394653.1:p.Asn1208fs frameshift NM_001407725.1:c.3623dup NP_001394654.1:p.Asn1208fs frameshift NM_001407726.1:c.3623dup NP_001394655.1:p.Asn1208fs frameshift NM_001407727.1:c.3623dup NP_001394656.1:p.Asn1208fs frameshift NM_001407728.1:c.3623dup NP_001394657.1:p.Asn1208fs frameshift NM_001407729.1:c.3623dup NP_001394658.1:p.Asn1208fs frameshift NM_001407730.1:c.3623dup NP_001394659.1:p.Asn1208fs frameshift NM_001407731.1:c.3623dup NP_001394660.1:p.Asn1208fs frameshift NM_001407732.1:c.3623dup NP_001394661.1:p.Asn1208fs frameshift NM_001407733.1:c.3623dup NP_001394662.1:p.Asn1208fs frameshift NM_001407734.1:c.3623dup NP_001394663.1:p.Asn1208fs frameshift NM_001407735.1:c.3623dup NP_001394664.1:p.Asn1208fs frameshift NM_001407736.1:c.3623dup NP_001394665.1:p.Asn1208fs frameshift NM_001407737.1:c.3623dup NP_001394666.1:p.Asn1208fs frameshift NM_001407738.1:c.3623dup NP_001394667.1:p.Asn1208fs frameshift NM_001407739.1:c.3623dup NP_001394668.1:p.Asn1208fs frameshift NM_001407740.1:c.3620dup NP_001394669.1:p.Asn1207fs frameshift NM_001407741.1:c.3620dup NP_001394670.1:p.Asn1207fs frameshift NM_001407742.1:c.3620dup NP_001394671.1:p.Asn1207fs frameshift NM_001407743.1:c.3620dup NP_001394672.1:p.Asn1207fs frameshift NM_001407744.1:c.3620dup NP_001394673.1:p.Asn1207fs frameshift NM_001407745.1:c.3620dup NP_001394674.1:p.Asn1207fs frameshift NM_001407746.1:c.3620dup NP_001394675.1:p.Asn1207fs frameshift NM_001407747.1:c.3620dup NP_001394676.1:p.Asn1207fs frameshift NM_001407748.1:c.3620dup NP_001394677.1:p.Asn1207fs frameshift NM_001407749.1:c.3620dup NP_001394678.1:p.Asn1207fs frameshift NM_001407750.1:c.3623dup NP_001394679.1:p.Asn1208fs frameshift NM_001407751.1:c.3623dup NP_001394680.1:p.Asn1208fs frameshift NM_001407752.1:c.3623dup NP_001394681.1:p.Asn1208fs frameshift NM_001407838.1:c.3620dup NP_001394767.1:p.Asn1207fs frameshift NM_001407839.1:c.3620dup NP_001394768.1:p.Asn1207fs frameshift NM_001407841.1:c.3620dup NP_001394770.1:p.Asn1207fs frameshift NM_001407842.1:c.3620dup NP_001394771.1:p.Asn1207fs frameshift NM_001407843.1:c.3620dup NP_001394772.1:p.Asn1207fs frameshift NM_001407844.1:c.3620dup NP_001394773.1:p.Asn1207fs frameshift NM_001407845.1:c.3620dup NP_001394774.1:p.Asn1207fs frameshift NM_001407846.1:c.3620dup NP_001394775.1:p.Asn1207fs frameshift NM_001407847.1:c.3620dup NP_001394776.1:p.Asn1207fs frameshift NM_001407848.1:c.3620dup NP_001394777.1:p.Asn1207fs frameshift NM_001407849.1:c.3620dup NP_001394778.1:p.Asn1207fs frameshift NM_001407850.1:c.3623dup NP_001394779.1:p.Asn1208fs frameshift NM_001407851.1:c.3623dup NP_001394780.1:p.Asn1208fs frameshift NM_001407852.1:c.3623dup NP_001394781.1:p.Asn1208fs frameshift NM_001407853.1:c.3551dup NP_001394782.1:p.Asn1184fs frameshift NM_001407854.1:c.3764dup NP_001394783.1:p.Asn1255fs frameshift NM_001407858.1:c.3764dup NP_001394787.1:p.Asn1255fs frameshift NM_001407859.1:c.3764dup NP_001394788.1:p.Asn1255fs frameshift NM_001407860.1:c.3761dup NP_001394789.1:p.Asn1254fs frameshift NM_001407861.1:c.3761dup NP_001394790.1:p.Asn1254fs frameshift NM_001407862.1:c.3563dup NP_001394791.1:p.Asn1188fs frameshift NM_001407863.1:c.3641dup NP_001394792.1:p.Asn1214fs frameshift NM_001407874.1:c.3560dup NP_001394803.1:p.Asn1187fs frameshift NM_001407875.1:c.3560dup NP_001394804.1:p.Asn1187fs frameshift NM_001407879.1:c.3554dup NP_001394808.1:p.Asn1185fs frameshift NM_001407881.1:c.3554dup NP_001394810.1:p.Asn1185fs frameshift NM_001407882.1:c.3554dup NP_001394811.1:p.Asn1185fs frameshift NM_001407884.1:c.3554dup NP_001394813.1:p.Asn1185fs frameshift NM_001407885.1:c.3554dup NP_001394814.1:p.Asn1185fs frameshift NM_001407886.1:c.3554dup NP_001394815.1:p.Asn1185fs frameshift NM_001407887.1:c.3554dup NP_001394816.1:p.Asn1185fs frameshift NM_001407889.1:c.3554dup NP_001394818.1:p.Asn1185fs frameshift NM_001407894.1:c.3551dup NP_001394823.1:p.Asn1184fs frameshift NM_001407895.1:c.3551dup NP_001394824.1:p.Asn1184fs frameshift NM_001407896.1:c.3551dup NP_001394825.1:p.Asn1184fs frameshift NM_001407897.1:c.3551dup NP_001394826.1:p.Asn1184fs frameshift NM_001407898.1:c.3551dup NP_001394827.1:p.Asn1184fs frameshift NM_001407899.1:c.3551dup NP_001394828.1:p.Asn1184fs frameshift NM_001407900.1:c.3554dup NP_001394829.1:p.Asn1185fs frameshift NM_001407902.1:c.3554dup NP_001394831.1:p.Asn1185fs frameshift NM_001407904.1:c.3554dup NP_001394833.1:p.Asn1185fs frameshift NM_001407906.1:c.3554dup NP_001394835.1:p.Asn1185fs frameshift NM_001407907.1:c.3554dup NP_001394836.1:p.Asn1185fs frameshift NM_001407908.1:c.3554dup NP_001394837.1:p.Asn1185fs frameshift NM_001407909.1:c.3554dup NP_001394838.1:p.Asn1185fs frameshift NM_001407910.1:c.3554dup NP_001394839.1:p.Asn1185fs frameshift NM_001407915.1:c.3551dup NP_001394844.1:p.Asn1184fs frameshift NM_001407916.1:c.3551dup NP_001394845.1:p.Asn1184fs frameshift NM_001407917.1:c.3551dup NP_001394846.1:p.Asn1184fs frameshift NM_001407918.1:c.3551dup NP_001394847.1:p.Asn1184fs frameshift NM_001407919.1:c.3641dup NP_001394848.1:p.Asn1214fs frameshift NM_001407920.1:c.3500dup NP_001394849.1:p.Asn1167fs frameshift NM_001407921.1:c.3500dup NP_001394850.1:p.Asn1167fs frameshift NM_001407922.1:c.3500dup NP_001394851.1:p.Asn1167fs frameshift NM_001407923.1:c.3500dup NP_001394852.1:p.Asn1167fs frameshift NM_001407924.1:c.3500dup NP_001394853.1:p.Asn1167fs frameshift NM_001407925.1:c.3500dup NP_001394854.1:p.Asn1167fs frameshift NM_001407926.1:c.3500dup NP_001394855.1:p.Asn1167fs frameshift NM_001407927.1:c.3500dup NP_001394856.1:p.Asn1167fs frameshift NM_001407928.1:c.3500dup NP_001394857.1:p.Asn1167fs frameshift NM_001407929.1:c.3500dup NP_001394858.1:p.Asn1167fs frameshift NM_001407930.1:c.3497dup NP_001394859.1:p.Asn1166fs frameshift NM_001407931.1:c.3497dup NP_001394860.1:p.Asn1166fs frameshift NM_001407932.1:c.3497dup NP_001394861.1:p.Asn1166fs frameshift NM_001407933.1:c.3500dup NP_001394862.1:p.Asn1167fs frameshift NM_001407934.1:c.3497dup NP_001394863.1:p.Asn1166fs frameshift NM_001407935.1:c.3500dup NP_001394864.1:p.Asn1167fs frameshift NM_001407936.1:c.3497dup NP_001394865.1:p.Asn1166fs frameshift NM_001407937.1:c.3641dup NP_001394866.1:p.Asn1214fs frameshift NM_001407938.1:c.3641dup NP_001394867.1:p.Asn1214fs frameshift NM_001407939.1:c.3641dup NP_001394868.1:p.Asn1214fs frameshift NM_001407940.1:c.3638dup NP_001394869.1:p.Asn1213fs frameshift NM_001407941.1:c.3638dup NP_001394870.1:p.Asn1213fs frameshift NM_001407942.1:c.3623dup NP_001394871.1:p.Asn1208fs frameshift NM_001407943.1:c.3620dup NP_001394872.1:p.Asn1207fs frameshift NM_001407944.1:c.3623dup NP_001394873.1:p.Asn1208fs frameshift NM_001407945.1:c.3623dup NP_001394874.1:p.Asn1208fs frameshift NM_001407946.1:c.3431dup NP_001394875.1:p.Asn1144fs frameshift NM_001407947.1:c.3431dup NP_001394876.1:p.Asn1144fs frameshift NM_001407948.1:c.3431dup NP_001394877.1:p.Asn1144fs frameshift NM_001407949.1:c.3431dup NP_001394878.1:p.Asn1144fs frameshift NM_001407950.1:c.3431dup NP_001394879.1:p.Asn1144fs frameshift NM_001407951.1:c.3431dup NP_001394880.1:p.Asn1144fs frameshift NM_001407952.1:c.3431dup NP_001394881.1:p.Asn1144fs frameshift NM_001407953.1:c.3431dup NP_001394882.1:p.Asn1144fs frameshift NM_001407954.1:c.3428dup NP_001394883.1:p.Asn1143fs frameshift NM_001407955.1:c.3428dup NP_001394884.1:p.Asn1143fs frameshift NM_001407956.1:c.3428dup NP_001394885.1:p.Asn1143fs frameshift NM_001407957.1:c.3431dup NP_001394886.1:p.Asn1144fs frameshift NM_001407958.1:c.3428dup NP_001394887.1:p.Asn1143fs frameshift NM_001407959.1:c.3383dup NP_001394888.1:p.Asn1128fs frameshift NM_001407960.1:c.3383dup NP_001394889.1:p.Asn1128fs frameshift NM_001407962.1:c.3380dup NP_001394891.1:p.Asn1127fs frameshift NM_001407963.1:c.3383dup NP_001394892.1:p.Asn1128fs frameshift NM_001407964.1:c.3620dup NP_001394893.1:p.Asn1207fs frameshift NM_001407965.1:c.3260dup NP_001394894.1:p.Asn1087fs frameshift NM_001407966.1:c.2876dup NP_001394895.1:p.Asn959fs frameshift NM_001407967.1:c.2876dup NP_001394896.1:p.Asn959fs frameshift NM_001407968.1:c.1160dup NP_001394897.1:p.Asn387fs frameshift NM_001407969.1:c.1160dup NP_001394898.1:p.Asn387fs frameshift NM_001407970.1:c.788-735dup intron variant NM_001407971.1:c.788-735dup intron variant NM_001407972.1:c.785-735dup intron variant NM_001407973.1:c.788-735dup intron variant NM_001407974.1:c.788-735dup intron variant NM_001407975.1:c.788-735dup intron variant NM_001407976.1:c.788-735dup intron variant NM_001407977.1:c.788-735dup intron variant NM_001407978.1:c.788-735dup intron variant NM_001407979.1:c.788-735dup intron variant NM_001407980.1:c.788-735dup intron variant NM_001407981.1:c.788-735dup intron variant NM_001407982.1:c.788-735dup intron variant NM_001407983.1:c.788-735dup intron variant NM_001407984.1:c.785-735dup intron variant NM_001407985.1:c.785-735dup intron variant NM_001407986.1:c.785-735dup intron variant NM_001407990.1:c.788-735dup intron variant NM_001407991.1:c.785-735dup intron variant NM_001407992.1:c.785-735dup intron variant NM_001407993.1:c.788-735dup intron variant NM_001408392.1:c.785-735dup intron variant NM_001408396.1:c.785-735dup intron variant NM_001408397.1:c.785-735dup intron variant NM_001408398.1:c.785-735dup intron variant NM_001408399.1:c.785-735dup intron variant NM_001408400.1:c.785-735dup intron variant NM_001408401.1:c.785-735dup intron variant NM_001408402.1:c.785-735dup intron variant NM_001408403.1:c.788-735dup intron variant NM_001408404.1:c.788-735dup intron variant NM_001408406.1:c.791-744dup intron variant NM_001408407.1:c.785-735dup intron variant NM_001408408.1:c.779-735dup intron variant NM_001408409.1:c.710-735dup intron variant NM_001408410.1:c.647-735dup intron variant NM_001408411.1:c.710-735dup intron variant NM_001408412.1:c.710-735dup intron variant NM_001408413.1:c.707-735dup intron variant NM_001408414.1:c.710-735dup intron variant NM_001408415.1:c.710-735dup intron variant NM_001408416.1:c.707-735dup intron variant NM_001408418.1:c.671-735dup intron variant NM_001408419.1:c.671-735dup intron variant NM_001408420.1:c.671-735dup intron variant NM_001408421.1:c.668-735dup intron variant NM_001408422.1:c.671-735dup intron variant NM_001408423.1:c.671-735dup intron variant NM_001408424.1:c.668-735dup intron variant NM_001408425.1:c.665-735dup intron variant NM_001408426.1:c.665-735dup intron variant NM_001408427.1:c.665-735dup intron variant NM_001408428.1:c.665-735dup intron variant NM_001408429.1:c.665-735dup intron variant NM_001408430.1:c.665-735dup intron variant NM_001408431.1:c.668-735dup intron variant NM_001408432.1:c.662-735dup intron variant NM_001408433.1:c.662-735dup intron variant NM_001408434.1:c.662-735dup intron variant NM_001408435.1:c.662-735dup intron variant NM_001408436.1:c.665-735dup intron variant NM_001408437.1:c.665-735dup intron variant NM_001408438.1:c.665-735dup intron variant NM_001408439.1:c.665-735dup intron variant NM_001408440.1:c.665-735dup intron variant NM_001408441.1:c.665-735dup intron variant NM_001408442.1:c.665-735dup intron variant NM_001408443.1:c.665-735dup intron variant NM_001408444.1:c.665-735dup intron variant NM_001408445.1:c.662-735dup intron variant NM_001408446.1:c.662-735dup intron variant NM_001408447.1:c.662-735dup intron variant NM_001408448.1:c.662-735dup intron variant NM_001408450.1:c.662-735dup intron variant NM_001408451.1:c.653-735dup intron variant NM_001408452.1:c.647-735dup intron variant NM_001408453.1:c.647-735dup intron variant NM_001408454.1:c.647-735dup intron variant NM_001408455.1:c.647-735dup intron variant NM_001408456.1:c.647-735dup intron variant NM_001408457.1:c.647-735dup intron variant NM_001408458.1:c.647-735dup intron variant NM_001408459.1:c.647-735dup intron variant NM_001408460.1:c.647-735dup intron variant NM_001408461.1:c.647-735dup intron variant NM_001408462.1:c.644-735dup intron variant NM_001408463.1:c.644-735dup intron variant NM_001408464.1:c.644-735dup intron variant NM_001408465.1:c.644-735dup intron variant NM_001408466.1:c.647-735dup intron variant NM_001408467.1:c.647-735dup intron variant NM_001408468.1:c.644-735dup intron variant NM_001408469.1:c.647-735dup intron variant NM_001408470.1:c.644-735dup intron variant NM_001408472.1:c.788-735dup intron variant NM_001408473.1:c.785-735dup intron variant NM_001408474.1:c.587-735dup intron variant NM_001408475.1:c.584-735dup intron variant NM_001408476.1:c.587-735dup intron variant NM_001408478.1:c.578-735dup intron variant NM_001408479.1:c.578-735dup intron variant NM_001408480.1:c.578-735dup intron variant NM_001408481.1:c.578-735dup intron variant NM_001408482.1:c.578-735dup intron variant NM_001408483.1:c.578-735dup intron variant NM_001408484.1:c.578-735dup intron variant NM_001408485.1:c.578-735dup intron variant NM_001408489.1:c.578-735dup intron variant NM_001408490.1:c.575-735dup intron variant NM_001408491.1:c.575-735dup intron variant NM_001408492.1:c.578-735dup intron variant NM_001408493.1:c.575-735dup intron variant NM_001408494.1:c.548-735dup intron variant NM_001408495.1:c.545-735dup intron variant NM_001408496.1:c.524-735dup intron variant NM_001408497.1:c.524-735dup intron variant NM_001408498.1:c.524-735dup intron variant NM_001408499.1:c.524-735dup intron variant NM_001408500.1:c.524-735dup intron variant NM_001408501.1:c.524-735dup intron variant NM_001408502.1:c.455-735dup intron variant NM_001408503.1:c.521-735dup intron variant NM_001408504.1:c.521-735dup intron variant NM_001408505.1:c.521-735dup intron variant NM_001408506.1:c.461-735dup intron variant NM_001408507.1:c.461-735dup intron variant NM_001408508.1:c.452-735dup intron variant NM_001408509.1:c.452-735dup intron variant NM_001408510.1:c.407-735dup intron variant NM_001408511.1:c.404-735dup intron variant NM_001408512.1:c.284-735dup intron variant NM_001408513.1:c.578-735dup intron variant NM_001408514.1:c.578-735dup intron variant NM_007294.3:c.3764dupA frameshift NM_007297.4:c.3623dup NP_009228.2:p.Asn1208fs frameshift NM_007298.4:c.788-735dup intron variant NM_007299.4:c.788-735dup intron variant NM_007300.4:c.3764dup NP_009231.2:p.Asn1255fs frameshift NR_027676.1:n.3899dup NC_000017.11:g.43091768dup NC_000017.10:g.41243785dup NG_005905.2:g.126217dup NG_087068.1:g.750dup LRG_292:g.126217dup LRG_292t1:c.3763dup LRG_292p1:p.Asn1255Lysfs U14680.1:n.3883_3884insA - Protein change
- N1208fs, N1255fs, N1166fs, N1167fs, N1188fs, N1207fs, N1252fs, N387fs, N1087fs, N1143fs, N1187fs, N1228fs, N1254fs, N1127fs, N1128fs, N1214fs, N1229fs, N959fs, N1144fs, N1184fs, N1185fs, N1213fs
- Other names
-
3883insA
- Canonical SPDI
- NC_000017.11:43091766:TT:TTT
-
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 |
13471 | 15364 | |
| LOC126862571 | - | - | - | GRCh38 | - | 1734 |
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 (5) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000031126.18 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Nov 30, 2021 | RCV000129813.17 | |
| Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Oct 24, 2024 | RCV000048324.26 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Dec 8, 2016 | RCV000508668.10 | |
| Pathogenic (1) |
no assertion criteria provided
|
Jan 20, 2010 | RCV000735452.9 |
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. |
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|---|---|---|---|---|---|
|
Pathogenic
(Sep 08, 2016)
C
Contributing to aggregate classification
|
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: SCV000300011.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Oct 24, 2024)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000076337.14
First in ClinVar: Jul 03, 2013 Last updated: Feb 25, 2025 |
Comment:
This sequence change creates a premature translational stop signal (p.Asn1255Lysfs*12) 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.Asn1255Lysfs*12) 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 breast cancer (PMID: 9150171, 26681312). This variant is also known as 3883insA. ClinVar contains an entry for this variant (Variation ID: 37545). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
Pathogenic
(Nov 30, 2021)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000184627.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.3764dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 3764, causing a … (more)
The c.3764dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 3764, causing a translational frameshift with a predicted alternate stop codon (p.N1255Kfs*12). This alteration has been reported in multiple probands with hereditary breast and/or ovarian cancer (Gao Q et al. Am. J. Hum. Genet. 1997 May;60:1233-6; Churpek JE et al. Breast Cancer Res. Treat. 2015 Jan;149:31-9; Palmero E et al. Sci Rep 2018 Jun;8:9188). Of note, this alteration is also designated as 3883insA in published literature. 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
(Oct 02, 2015)
N
Not contributing to aggregate classification
|
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: SCV000325749.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
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Pathogenic
(Dec 08, 2016)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000605850.2
First in ClinVar: Sep 30, 2017 Last updated: Jan 03, 2022 |
|
|
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Pathogenic
(Jan 15, 2020)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000905031.3
First in ClinVar: May 20, 2019 Last updated: Jan 15, 2022 |
Comment:
This variant inserts 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 inserts 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 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
(Nov 30, 2023)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215174.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
|
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Pathogenic
(Jul 09, 2024)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV005203155.1
First in ClinVar: Sep 16, 2024 Last updated: Sep 16, 2024 |
Comment:
Variant summary: BRCA1 c.3764dupA (p.Asn1255LysfsX12) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.3764dupA (p.Asn1255LysfsX12) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251272 control chromosomes. c.3764dupA has been reported in the literature in the heterozygous state in at least 1 individual affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Olaya_2022). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 36620844). ClinVar contains an entry for this variant (Variation ID: 37545). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
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Pathogenic
(Feb 12, 2010)
N
Not contributing to aggregate classification
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000053725.3
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
|
|
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Pathogenic
(Nov 14, 1997)
N
Not contributing to aggregate classification
|
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: SCV000144869.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 2
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: African
|
|
|
Pathogenic
(Jan 31, 2014)
N
Not contributing to aggregate classification
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587346.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
|
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|
Pathogenic
(Jan 20, 2010)
N
Not contributing to aggregate classification
|
no assertion criteria provided
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000863589.1 First in ClinVar: Dec 24, 2018 Last updated: Dec 24, 2018 |
|
|
| click to load more submissions click to collapse | |||||
Comment:
Comment:
This sequence change creates a premature translational stop signal (p.Asn1255Lysfs*12) 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 breast cancer (PMID: 9150171, 26681312). This variant is also known as 3883insA. ClinVar contains an entry for this variant (Variation ID: 37545). For these reasons, this variant has been classified as Pathogenic.
Comment:
The c.3764dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 3764, causing a translational frameshift with a predicted alternate stop codon (p.N1255Kfs*12). This alteration has been reported in multiple probands with hereditary breast and/or ovarian cancer (Gao Q et al. Am. J. Hum. Genet. 1997 May;60:1233-6; Churpek JE et al. Breast Cancer Res. Treat. 2015 Jan;149:31-9; Palmero E et al. Sci Rep 2018 Jun;8:9188). Of note, this alteration is also designated as 3883insA in published literature. 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.
Comment:
This variant inserts 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 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:
Variant summary: BRCA1 c.3764dupA (p.Asn1255LysfsX12) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251272 control chromosomes. c.3764dupA has been reported in the literature in the heterozygous state in at least 1 individual affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Olaya_2022). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 36620844). ClinVar contains an entry for this variant (Variation ID: 37545). Based on the evidence outlined above, the variant was 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 sequence change creates a premature translational stop signal (p.Asn1255Lysfs*12) 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 breast cancer (PMID: 9150171, 26681312). This variant is also known as 3883insA. ClinVar contains an entry for this variant (Variation ID: 37545). For these reasons, this variant has been classified as Pathogenic.
Comment:
The c.3764dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 3764, causing a translational frameshift with a predicted alternate stop codon (p.N1255Kfs*12). This alteration has been reported in multiple probands with hereditary breast and/or ovarian cancer (Gao Q et al. Am. J. Hum. Genet. 1997 May;60:1233-6; Churpek JE et al. Breast Cancer Res. Treat. 2015 Jan;149:31-9; Palmero E et al. Sci Rep 2018 Jun;8:9188). Of note, this alteration is also designated as 3883insA in published literature. 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.
Comment:
This variant inserts 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 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:
Variant summary: BRCA1 c.3764dupA (p.Asn1255LysfsX12) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251272 control chromosomes. c.3764dupA has been reported in the literature in the heterozygous state in at least 1 individual affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Olaya_2022). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 36620844). ClinVar contains an entry for this variant (Variation ID: 37545). Based on the evidence outlined above, the variant was classified as pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia. | Olaya J | Cureus | 2022 | PMID: 36620844 |
| Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. | Fernandes GC | Oncotarget | 2016 | PMID: 27741520 |
| Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | Susswein LR | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26681312 |
| Inherited predisposition to breast cancer among African American women. | Churpek JE | Breast cancer research and treatment | 2015 | PMID: 25428789 |
| 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 |
| Recurrent germ-line BRCA1 mutations in extended African American families with early-onset breast cancer. | Gao Q | American journal of human genetics | 1997 | PMID: 9150171 |
Text-mined citations for rs80357848 ...
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Record last updated May 17, 2025
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.