Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3820dup (p.Val1274fs)
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.3820dup (p.Val1274fs)
Variation ID: 55017 Accession: VCV000055017.16
- Type and length
-
Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091710-43091711 (GRCh38) [ NCBI UCSC ] 17: 41243727-41243728 (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 4, 2014 Feb 14, 2024 Sep 8, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3820dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1274fs frameshift NM_001407571.1:c.3607dup NP_001394500.1:p.Val1203fs frameshift NM_001407581.1:c.3820dup NP_001394510.1:p.Val1274fs frameshift NM_001407582.1:c.3820dup NP_001394511.1:p.Val1274fs frameshift NM_001407583.1:c.3820dup NP_001394512.1:p.Val1274fs frameshift NM_001407585.1:c.3820dup NP_001394514.1:p.Val1274fs frameshift NM_001407587.1:c.3817dup NP_001394516.1:p.Val1273fs frameshift NM_001407590.1:c.3817dup NP_001394519.1:p.Val1273fs frameshift NM_001407591.1:c.3817dup NP_001394520.1:p.Val1273fs frameshift NM_001407593.1:c.3820dup NP_001394522.1:p.Val1274fs frameshift NM_001407594.1:c.3820dup NP_001394523.1:p.Val1274fs frameshift NM_001407596.1:c.3820dup NP_001394525.1:p.Val1274fs frameshift NM_001407597.1:c.3820dup NP_001394526.1:p.Val1274fs frameshift NM_001407598.1:c.3820dup NP_001394527.1:p.Val1274fs frameshift NM_001407602.1:c.3820dup NP_001394531.1:p.Val1274fs frameshift NM_001407603.1:c.3820dup NP_001394532.1:p.Val1274fs frameshift NM_001407605.1:c.3820dup NP_001394534.1:p.Val1274fs frameshift NM_001407610.1:c.3817dup NP_001394539.1:p.Val1273fs frameshift NM_001407611.1:c.3817dup NP_001394540.1:p.Val1273fs frameshift NM_001407612.1:c.3817dup NP_001394541.1:p.Val1273fs frameshift NM_001407613.1:c.3817dup NP_001394542.1:p.Val1273fs frameshift NM_001407614.1:c.3817dup NP_001394543.1:p.Val1273fs frameshift NM_001407615.1:c.3817dup NP_001394544.1:p.Val1273fs frameshift NM_001407616.1:c.3820dup NP_001394545.1:p.Val1274fs frameshift NM_001407617.1:c.3820dup NP_001394546.1:p.Val1274fs frameshift NM_001407618.1:c.3820dup NP_001394547.1:p.Val1274fs frameshift NM_001407619.1:c.3820dup NP_001394548.1:p.Val1274fs frameshift NM_001407620.1:c.3820dup NP_001394549.1:p.Val1274fs frameshift NM_001407621.1:c.3820dup NP_001394550.1:p.Val1274fs frameshift NM_001407622.1:c.3820dup NP_001394551.1:p.Val1274fs frameshift NM_001407623.1:c.3820dup NP_001394552.1:p.Val1274fs frameshift NM_001407624.1:c.3820dup NP_001394553.1:p.Val1274fs frameshift NM_001407625.1:c.3820dup NP_001394554.1:p.Val1274fs frameshift NM_001407626.1:c.3820dup NP_001394555.1:p.Val1274fs frameshift NM_001407627.1:c.3817dup NP_001394556.1:p.Val1273fs frameshift NM_001407628.1:c.3817dup NP_001394557.1:p.Val1273fs frameshift NM_001407629.1:c.3817dup NP_001394558.1:p.Val1273fs frameshift NM_001407630.1:c.3817dup NP_001394559.1:p.Val1273fs frameshift NM_001407631.1:c.3817dup NP_001394560.1:p.Val1273fs frameshift NM_001407632.1:c.3817dup NP_001394561.1:p.Val1273fs frameshift NM_001407633.1:c.3817dup NP_001394562.1:p.Val1273fs frameshift NM_001407634.1:c.3817dup NP_001394563.1:p.Val1273fs frameshift NM_001407635.1:c.3817dup NP_001394564.1:p.Val1273fs frameshift NM_001407636.1:c.3817dup NP_001394565.1:p.Val1273fs frameshift NM_001407637.1:c.3817dup NP_001394566.1:p.Val1273fs frameshift NM_001407638.1:c.3817dup NP_001394567.1:p.Val1273fs frameshift NM_001407639.1:c.3820dup NP_001394568.1:p.Val1274fs frameshift NM_001407640.1:c.3820dup NP_001394569.1:p.Val1274fs frameshift NM_001407641.1:c.3820dup NP_001394570.1:p.Val1274fs frameshift NM_001407642.1:c.3820dup NP_001394571.1:p.Val1274fs frameshift NM_001407644.1:c.3817dup NP_001394573.1:p.Val1273fs frameshift NM_001407645.1:c.3817dup NP_001394574.1:p.Val1273fs frameshift NM_001407646.1:c.3811dup NP_001394575.1:p.Val1271fs frameshift NM_001407647.1:c.3811dup NP_001394576.1:p.Val1271fs frameshift NM_001407648.1:c.3697dup NP_001394577.1:p.Val1233fs frameshift NM_001407649.1:c.3694dup NP_001394578.1:p.Val1232fs frameshift NM_001407652.1:c.3820dup NP_001394581.1:p.Val1274fs frameshift NM_001407653.1:c.3742dup NP_001394582.1:p.Val1248fs frameshift NM_001407654.1:c.3742dup NP_001394583.1:p.Val1248fs frameshift NM_001407655.1:c.3742dup NP_001394584.1:p.Val1248fs frameshift NM_001407656.1:c.3742dup NP_001394585.1:p.Val1248fs frameshift NM_001407657.1:c.3742dup NP_001394586.1:p.Val1248fs frameshift NM_001407658.1:c.3742dup NP_001394587.1:p.Val1248fs frameshift NM_001407659.1:c.3739dup NP_001394588.1:p.Val1247fs frameshift NM_001407660.1:c.3739dup NP_001394589.1:p.Val1247fs frameshift NM_001407661.1:c.3739dup NP_001394590.1:p.Val1247fs frameshift NM_001407662.1:c.3739dup NP_001394591.1:p.Val1247fs frameshift NM_001407663.1:c.3742dup NP_001394592.1:p.Val1248fs frameshift NM_001407664.1:c.3697dup NP_001394593.1:p.Val1233fs frameshift NM_001407665.1:c.3697dup NP_001394594.1:p.Val1233fs frameshift NM_001407666.1:c.3697dup NP_001394595.1:p.Val1233fs frameshift NM_001407667.1:c.3697dup NP_001394596.1:p.Val1233fs frameshift NM_001407668.1:c.3697dup NP_001394597.1:p.Val1233fs frameshift NM_001407669.1:c.3697dup NP_001394598.1:p.Val1233fs frameshift NM_001407670.1:c.3694dup NP_001394599.1:p.Val1232fs frameshift NM_001407671.1:c.3694dup NP_001394600.1:p.Val1232fs frameshift NM_001407672.1:c.3694dup NP_001394601.1:p.Val1232fs frameshift NM_001407673.1:c.3694dup NP_001394602.1:p.Val1232fs frameshift NM_001407674.1:c.3697dup NP_001394603.1:p.Val1233fs frameshift NM_001407675.1:c.3697dup NP_001394604.1:p.Val1233fs frameshift NM_001407676.1:c.3697dup NP_001394605.1:p.Val1233fs frameshift NM_001407677.1:c.3697dup NP_001394606.1:p.Val1233fs frameshift NM_001407678.1:c.3697dup NP_001394607.1:p.Val1233fs frameshift NM_001407679.1:c.3697dup NP_001394608.1:p.Val1233fs frameshift NM_001407680.1:c.3697dup NP_001394609.1:p.Val1233fs frameshift NM_001407681.1:c.3697dup NP_001394610.1:p.Val1233fs frameshift NM_001407682.1:c.3697dup NP_001394611.1:p.Val1233fs frameshift NM_001407683.1:c.3697dup NP_001394612.1:p.Val1233fs frameshift NM_001407684.1:c.3820dup NP_001394613.1:p.Val1274fs frameshift NM_001407685.1:c.3694dup NP_001394614.1:p.Val1232fs frameshift NM_001407686.1:c.3694dup NP_001394615.1:p.Val1232fs frameshift NM_001407687.1:c.3694dup NP_001394616.1:p.Val1232fs frameshift NM_001407688.1:c.3694dup NP_001394617.1:p.Val1232fs frameshift NM_001407689.1:c.3694dup NP_001394618.1:p.Val1232fs frameshift NM_001407690.1:c.3694dup NP_001394619.1:p.Val1232fs frameshift NM_001407691.1:c.3694dup NP_001394620.1:p.Val1232fs frameshift NM_001407692.1:c.3679dup NP_001394621.1:p.Val1227fs frameshift NM_001407694.1:c.3679dup NP_001394623.1:p.Val1227fs frameshift NM_001407695.1:c.3679dup NP_001394624.1:p.Val1227fs frameshift NM_001407696.1:c.3679dup NP_001394625.1:p.Val1227fs frameshift NM_001407697.1:c.3679dup NP_001394626.1:p.Val1227fs frameshift NM_001407698.1:c.3679dup NP_001394627.1:p.Val1227fs frameshift NM_001407724.1:c.3679dup NP_001394653.1:p.Val1227fs frameshift NM_001407725.1:c.3679dup NP_001394654.1:p.Val1227fs frameshift NM_001407726.1:c.3679dup NP_001394655.1:p.Val1227fs frameshift NM_001407727.1:c.3679dup NP_001394656.1:p.Val1227fs frameshift NM_001407728.1:c.3679dup NP_001394657.1:p.Val1227fs frameshift NM_001407729.1:c.3679dup NP_001394658.1:p.Val1227fs frameshift NM_001407730.1:c.3679dup NP_001394659.1:p.Val1227fs frameshift NM_001407731.1:c.3679dup NP_001394660.1:p.Val1227fs frameshift NM_001407732.1:c.3679dup NP_001394661.1:p.Val1227fs frameshift NM_001407733.1:c.3679dup NP_001394662.1:p.Val1227fs frameshift NM_001407734.1:c.3679dup NP_001394663.1:p.Val1227fs frameshift NM_001407735.1:c.3679dup NP_001394664.1:p.Val1227fs frameshift NM_001407736.1:c.3679dup NP_001394665.1:p.Val1227fs frameshift NM_001407737.1:c.3679dup NP_001394666.1:p.Val1227fs frameshift NM_001407738.1:c.3679dup NP_001394667.1:p.Val1227fs frameshift NM_001407739.1:c.3679dup NP_001394668.1:p.Val1227fs frameshift NM_001407740.1:c.3676dup NP_001394669.1:p.Val1226fs frameshift NM_001407741.1:c.3676dup NP_001394670.1:p.Val1226fs frameshift NM_001407742.1:c.3676dup NP_001394671.1:p.Val1226fs frameshift NM_001407743.1:c.3676dup NP_001394672.1:p.Val1226fs frameshift NM_001407744.1:c.3676dup NP_001394673.1:p.Val1226fs frameshift NM_001407745.1:c.3676dup NP_001394674.1:p.Val1226fs frameshift NM_001407746.1:c.3676dup NP_001394675.1:p.Val1226fs frameshift NM_001407747.1:c.3676dup NP_001394676.1:p.Val1226fs frameshift NM_001407748.1:c.3676dup NP_001394677.1:p.Val1226fs frameshift NM_001407749.1:c.3676dup NP_001394678.1:p.Val1226fs frameshift NM_001407750.1:c.3679dup NP_001394679.1:p.Val1227fs frameshift NM_001407751.1:c.3679dup NP_001394680.1:p.Val1227fs frameshift NM_001407752.1:c.3679dup NP_001394681.1:p.Val1227fs frameshift NM_001407838.1:c.3676dup NP_001394767.1:p.Val1226fs frameshift NM_001407839.1:c.3676dup NP_001394768.1:p.Val1226fs frameshift NM_001407841.1:c.3676dup NP_001394770.1:p.Val1226fs frameshift NM_001407842.1:c.3676dup NP_001394771.1:p.Val1226fs frameshift NM_001407843.1:c.3676dup NP_001394772.1:p.Val1226fs frameshift NM_001407844.1:c.3676dup NP_001394773.1:p.Val1226fs frameshift NM_001407845.1:c.3676dup NP_001394774.1:p.Val1226fs frameshift NM_001407846.1:c.3676dup NP_001394775.1:p.Val1226fs frameshift NM_001407847.1:c.3676dup NP_001394776.1:p.Val1226fs frameshift NM_001407848.1:c.3676dup NP_001394777.1:p.Val1226fs frameshift NM_001407849.1:c.3676dup NP_001394778.1:p.Val1226fs frameshift NM_001407850.1:c.3679dup NP_001394779.1:p.Val1227fs frameshift NM_001407851.1:c.3679dup NP_001394780.1:p.Val1227fs frameshift NM_001407852.1:c.3679dup NP_001394781.1:p.Val1227fs frameshift NM_001407853.1:c.3607dup NP_001394782.1:p.Val1203fs frameshift NM_001407854.1:c.3820dup NP_001394783.1:p.Val1274fs frameshift NM_001407858.1:c.3820dup NP_001394787.1:p.Val1274fs frameshift NM_001407859.1:c.3820dup NP_001394788.1:p.Val1274fs frameshift NM_001407860.1:c.3817dup NP_001394789.1:p.Val1273fs frameshift NM_001407861.1:c.3817dup NP_001394790.1:p.Val1273fs frameshift NM_001407862.1:c.3619dup NP_001394791.1:p.Val1207fs frameshift NM_001407863.1:c.3697dup NP_001394792.1:p.Val1233fs frameshift NM_001407874.1:c.3616dup NP_001394803.1:p.Val1206fs frameshift NM_001407875.1:c.3616dup NP_001394804.1:p.Val1206fs frameshift NM_001407879.1:c.3610dup NP_001394808.1:p.Val1204fs frameshift NM_001407881.1:c.3610dup NP_001394810.1:p.Val1204fs frameshift NM_001407882.1:c.3610dup NP_001394811.1:p.Val1204fs frameshift NM_001407884.1:c.3610dup NP_001394813.1:p.Val1204fs frameshift NM_001407885.1:c.3610dup NP_001394814.1:p.Val1204fs frameshift NM_001407886.1:c.3610dup NP_001394815.1:p.Val1204fs frameshift NM_001407887.1:c.3610dup NP_001394816.1:p.Val1204fs frameshift NM_001407889.1:c.3610dup NP_001394818.1:p.Val1204fs frameshift NM_001407894.1:c.3607dup NP_001394823.1:p.Val1203fs frameshift NM_001407895.1:c.3607dup NP_001394824.1:p.Val1203fs frameshift NM_001407896.1:c.3607dup NP_001394825.1:p.Val1203fs frameshift NM_001407897.1:c.3607dup NP_001394826.1:p.Val1203fs frameshift NM_001407898.1:c.3607dup NP_001394827.1:p.Val1203fs frameshift NM_001407899.1:c.3607dup NP_001394828.1:p.Val1203fs frameshift NM_001407900.1:c.3610dup NP_001394829.1:p.Val1204fs frameshift NM_001407902.1:c.3610dup NP_001394831.1:p.Val1204fs frameshift NM_001407904.1:c.3610dup NP_001394833.1:p.Val1204fs frameshift NM_001407906.1:c.3610dup NP_001394835.1:p.Val1204fs frameshift NM_001407907.1:c.3610dup NP_001394836.1:p.Val1204fs frameshift NM_001407908.1:c.3610dup NP_001394837.1:p.Val1204fs frameshift NM_001407909.1:c.3610dup NP_001394838.1:p.Val1204fs frameshift NM_001407910.1:c.3610dup NP_001394839.1:p.Val1204fs frameshift NM_001407915.1:c.3607dup NP_001394844.1:p.Val1203fs frameshift NM_001407916.1:c.3607dup NP_001394845.1:p.Val1203fs frameshift NM_001407917.1:c.3607dup NP_001394846.1:p.Val1203fs frameshift NM_001407918.1:c.3607dup NP_001394847.1:p.Val1203fs frameshift NM_001407919.1:c.3697dup NP_001394848.1:p.Val1233fs frameshift NM_001407920.1:c.3556dup NP_001394849.1:p.Val1186fs frameshift NM_001407921.1:c.3556dup NP_001394850.1:p.Val1186fs frameshift NM_001407922.1:c.3556dup NP_001394851.1:p.Val1186fs frameshift NM_001407923.1:c.3556dup NP_001394852.1:p.Val1186fs frameshift NM_001407924.1:c.3556dup NP_001394853.1:p.Val1186fs frameshift NM_001407925.1:c.3556dup NP_001394854.1:p.Val1186fs frameshift NM_001407926.1:c.3556dup NP_001394855.1:p.Val1186fs frameshift NM_001407927.1:c.3556dup NP_001394856.1:p.Val1186fs frameshift NM_001407928.1:c.3556dup NP_001394857.1:p.Val1186fs frameshift NM_001407929.1:c.3556dup NP_001394858.1:p.Val1186fs frameshift NM_001407930.1:c.3553dup NP_001394859.1:p.Val1185fs frameshift NM_001407931.1:c.3553dup NP_001394860.1:p.Val1185fs frameshift NM_001407932.1:c.3553dup NP_001394861.1:p.Val1185fs frameshift NM_001407933.1:c.3556dup NP_001394862.1:p.Val1186fs frameshift NM_001407934.1:c.3553dup NP_001394863.1:p.Val1185fs frameshift NM_001407935.1:c.3556dup NP_001394864.1:p.Val1186fs frameshift NM_001407936.1:c.3553dup NP_001394865.1:p.Val1185fs frameshift NM_001407937.1:c.3697dup NP_001394866.1:p.Val1233fs frameshift NM_001407938.1:c.3697dup NP_001394867.1:p.Val1233fs frameshift NM_001407939.1:c.3697dup NP_001394868.1:p.Val1233fs frameshift NM_001407940.1:c.3694dup NP_001394869.1:p.Val1232fs frameshift NM_001407941.1:c.3694dup NP_001394870.1:p.Val1232fs frameshift NM_001407942.1:c.3679dup NP_001394871.1:p.Val1227fs frameshift NM_001407943.1:c.3676dup NP_001394872.1:p.Val1226fs frameshift NM_001407944.1:c.3679dup NP_001394873.1:p.Val1227fs frameshift NM_001407945.1:c.3679dup NP_001394874.1:p.Val1227fs frameshift NM_001407946.1:c.3487dup NP_001394875.1:p.Val1163fs frameshift NM_001407947.1:c.3487dup NP_001394876.1:p.Val1163fs frameshift NM_001407948.1:c.3487dup NP_001394877.1:p.Val1163fs frameshift NM_001407949.1:c.3487dup NP_001394878.1:p.Val1163fs frameshift NM_001407950.1:c.3487dup NP_001394879.1:p.Val1163fs frameshift NM_001407951.1:c.3487dup NP_001394880.1:p.Val1163fs frameshift NM_001407952.1:c.3487dup NP_001394881.1:p.Val1163fs frameshift NM_001407953.1:c.3487dup NP_001394882.1:p.Val1163fs frameshift NM_001407954.1:c.3484dup NP_001394883.1:p.Val1162fs frameshift NM_001407955.1:c.3484dup NP_001394884.1:p.Val1162fs frameshift NM_001407956.1:c.3484dup NP_001394885.1:p.Val1162fs frameshift NM_001407957.1:c.3487dup NP_001394886.1:p.Val1163fs frameshift NM_001407958.1:c.3484dup NP_001394887.1:p.Val1162fs frameshift NM_001407959.1:c.3439dup NP_001394888.1:p.Val1147fs frameshift NM_001407960.1:c.3439dup NP_001394889.1:p.Val1147fs frameshift NM_001407962.1:c.3436dup NP_001394891.1:p.Val1146fs frameshift NM_001407963.1:c.3439dup NP_001394892.1:p.Val1147fs frameshift NM_001407964.1:c.3676dup NP_001394893.1:p.Val1226fs frameshift NM_001407965.1:c.3316dup NP_001394894.1:p.Val1106fs frameshift NM_001407966.1:c.2932dup NP_001394895.1:p.Val978fs frameshift NM_001407967.1:c.2932dup NP_001394896.1:p.Val978fs frameshift NM_001407968.1:c.1216dup NP_001394897.1:p.Val406fs frameshift NM_001407969.1:c.1216dup NP_001394898.1:p.Val406fs frameshift NM_001407970.1:c.788-679dup intron variant NM_001407971.1:c.788-679dup intron variant NM_001407972.1:c.785-679dup intron variant NM_001407973.1:c.788-679dup intron variant NM_001407974.1:c.788-679dup intron variant NM_001407975.1:c.788-679dup intron variant NM_001407976.1:c.788-679dup intron variant NM_001407977.1:c.788-679dup intron variant NM_001407978.1:c.788-679dup intron variant NM_001407979.1:c.788-679dup intron variant NM_001407980.1:c.788-679dup intron variant NM_001407981.1:c.788-679dup intron variant NM_001407982.1:c.788-679dup intron variant NM_001407983.1:c.788-679dup intron variant NM_001407984.1:c.785-679dup intron variant NM_001407985.1:c.785-679dup intron variant NM_001407986.1:c.785-679dup intron variant NM_001407990.1:c.788-679dup intron variant NM_001407991.1:c.785-679dup intron variant NM_001407992.1:c.785-679dup intron variant NM_001407993.1:c.788-679dup intron variant NM_001408392.1:c.785-679dup intron variant NM_001408396.1:c.785-679dup intron variant NM_001408397.1:c.785-679dup intron variant NM_001408398.1:c.785-679dup intron variant NM_001408399.1:c.785-679dup intron variant NM_001408400.1:c.785-679dup intron variant NM_001408401.1:c.785-679dup intron variant NM_001408402.1:c.785-679dup intron variant NM_001408403.1:c.788-679dup intron variant NM_001408404.1:c.788-679dup intron variant NM_001408406.1:c.791-688dup intron variant NM_001408407.1:c.785-679dup intron variant NM_001408408.1:c.779-679dup intron variant NM_001408409.1:c.710-679dup intron variant NM_001408410.1:c.647-679dup intron variant NM_001408411.1:c.710-679dup intron variant NM_001408412.1:c.710-679dup intron variant NM_001408413.1:c.707-679dup intron variant NM_001408414.1:c.710-679dup intron variant NM_001408415.1:c.710-679dup intron variant NM_001408416.1:c.707-679dup intron variant NM_001408418.1:c.671-679dup intron variant NM_001408419.1:c.671-679dup intron variant NM_001408420.1:c.671-679dup intron variant NM_001408421.1:c.668-679dup intron variant NM_001408422.1:c.671-679dup intron variant NM_001408423.1:c.671-679dup intron variant NM_001408424.1:c.668-679dup intron variant NM_001408425.1:c.665-679dup intron variant NM_001408426.1:c.665-679dup intron variant NM_001408427.1:c.665-679dup intron variant NM_001408428.1:c.665-679dup intron variant NM_001408429.1:c.665-679dup intron variant NM_001408430.1:c.665-679dup intron variant NM_001408431.1:c.668-679dup intron variant NM_001408432.1:c.662-679dup intron variant NM_001408433.1:c.662-679dup intron variant NM_001408434.1:c.662-679dup intron variant NM_001408435.1:c.662-679dup intron variant NM_001408436.1:c.665-679dup intron variant NM_001408437.1:c.665-679dup intron variant NM_001408438.1:c.665-679dup intron variant NM_001408439.1:c.665-679dup intron variant NM_001408440.1:c.665-679dup intron variant NM_001408441.1:c.665-679dup intron variant NM_001408442.1:c.665-679dup intron variant NM_001408443.1:c.665-679dup intron variant NM_001408444.1:c.665-679dup intron variant NM_001408445.1:c.662-679dup intron variant NM_001408446.1:c.662-679dup intron variant NM_001408447.1:c.662-679dup intron variant NM_001408448.1:c.662-679dup intron variant NM_001408450.1:c.662-679dup intron variant NM_001408451.1:c.653-679dup intron variant NM_001408452.1:c.647-679dup intron variant NM_001408453.1:c.647-679dup intron variant NM_001408454.1:c.647-679dup intron variant NM_001408455.1:c.647-679dup intron variant NM_001408456.1:c.647-679dup intron variant NM_001408457.1:c.647-679dup intron variant NM_001408458.1:c.647-679dup intron variant NM_001408459.1:c.647-679dup intron variant NM_001408460.1:c.647-679dup intron variant NM_001408461.1:c.647-679dup intron variant NM_001408462.1:c.644-679dup intron variant NM_001408463.1:c.644-679dup intron variant NM_001408464.1:c.644-679dup intron variant NM_001408465.1:c.644-679dup intron variant NM_001408466.1:c.647-679dup intron variant NM_001408467.1:c.647-679dup intron variant NM_001408468.1:c.644-679dup intron variant NM_001408469.1:c.647-679dup intron variant NM_001408470.1:c.644-679dup intron variant NM_001408472.1:c.788-679dup intron variant NM_001408473.1:c.785-679dup intron variant NM_001408474.1:c.587-679dup intron variant NM_001408475.1:c.584-679dup intron variant NM_001408476.1:c.587-679dup intron variant NM_001408478.1:c.578-679dup intron variant NM_001408479.1:c.578-679dup intron variant NM_001408480.1:c.578-679dup intron variant NM_001408481.1:c.578-679dup intron variant NM_001408482.1:c.578-679dup intron variant NM_001408483.1:c.578-679dup intron variant NM_001408484.1:c.578-679dup intron variant NM_001408485.1:c.578-679dup intron variant NM_001408489.1:c.578-679dup intron variant NM_001408490.1:c.575-679dup intron variant NM_001408491.1:c.575-679dup intron variant NM_001408492.1:c.578-679dup intron variant NM_001408493.1:c.575-679dup intron variant NM_001408494.1:c.548-679dup intron variant NM_001408495.1:c.545-679dup intron variant NM_001408496.1:c.524-679dup intron variant NM_001408497.1:c.524-679dup intron variant NM_001408498.1:c.524-679dup intron variant NM_001408499.1:c.524-679dup intron variant NM_001408500.1:c.524-679dup intron variant NM_001408501.1:c.524-679dup intron variant NM_001408502.1:c.455-679dup intron variant NM_001408503.1:c.521-679dup intron variant NM_001408504.1:c.521-679dup intron variant NM_001408505.1:c.521-679dup intron variant NM_001408506.1:c.461-679dup intron variant NM_001408507.1:c.461-679dup intron variant NM_001408508.1:c.452-679dup intron variant NM_001408509.1:c.452-679dup intron variant NM_001408510.1:c.407-679dup intron variant NM_001408511.1:c.404-679dup intron variant NM_001408512.1:c.284-679dup intron variant NM_001408513.1:c.578-679dup intron variant NM_001408514.1:c.578-679dup intron variant NM_007294.3:c.3820dupG frameshift NM_007297.4:c.3679dup NP_009228.2:p.Val1227fs frameshift NM_007298.4:c.788-679dup intron variant NM_007299.4:c.788-679dup intron variant NM_007300.4:c.3820dup NP_009231.2:p.Val1274fs frameshift NR_027676.1:n.3955dup NC_000017.11:g.43091712dup NC_000017.10:g.41243729dup NG_005905.2:g.126273dup NG_087068.1:g.694dup LRG_292:g.126273dup LRG_292t1:c.3819dup LRG_292p1:p.Val1274Glyfs U14680.1:n.3939_3940insG - Protein change
- V1274fs, V1227fs, V1146fs, V1203fs, V1204fs, V1247fs, V1248fs, V406fs, V1106fs, V1162fs, V1185fs, V1186fs, V1232fs, V1147fs, V1206fs, V1233fs, V1271fs, V1273fs, V978fs, V1163fs, V1207fs, V1226fs
- Other names
-
3939insG
- Canonical SPDI
- NC_000017.11:43091710:CC:CCC
-
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 (5) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000112192.15 | |
| Pathogenic (3) |
no assertion criteria provided
|
- | RCV001528922.12 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Apr 21, 2021 | RCV001853003.14 |
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: SCV000300024.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Oct 10, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743400.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
|
|
|
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: SCV000325762.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Sep 21, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744623.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
|
|
|
Pathogenic
(Apr 21, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV002205854.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this … (more)
For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 16683254). ClinVar contains an entry for this variant (Variation ID: 55017). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val1274Glyfs*13) 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). (less)
|
|
|
Pathogenic
(Apr 10, 1997)
|
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: SCV000144887.1
First in ClinVar: Apr 04, 2014 Last updated: Apr 04, 2014 |
Observation 1:
Number of individuals with the variant: 3
Observation 2:
Number of individuals with the variant: 2
Geographic origin: Netherlands
|
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001741496.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
|
|
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001905988.1 First in ClinVar: Sep 23, 2021 Last updated: Sep 23, 2021 |
|
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002036417.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
|
Comment:
Comment:
For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 16683254). ClinVar contains an entry for this variant (Variation ID: 55017). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val1274Glyfs*13) 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).
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:
For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 16683254). ClinVar contains an entry for this variant (Variation ID: 55017). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val1274Glyfs*13) 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).
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| 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 |
| A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. | van der Hout AH | Human mutation | 2006 | PMID: 16683254 |
Text-mined citations for rs80357616 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 03, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.