Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1241dup (p.Asp414fs)
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
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NM_007294.4(BRCA1):c.1241dup (p.Asp414fs)
Variation ID: 54171 Accession: VCV000054171.5
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094289-43094290 (GRCh38) [ NCBI UCSC ] 17: 41246306-41246307 (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 Dec 11, 2022 Sep 8, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.1241dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp414fs frameshift NM_001407571.1:c.1028dup NP_001394500.1:p.Asp343fs frameshift NM_001407581.1:c.1241dup NP_001394510.1:p.Asp414fs frameshift NM_001407582.1:c.1241dup NP_001394511.1:p.Asp414fs frameshift NM_001407583.1:c.1241dup NP_001394512.1:p.Asp414fs frameshift NM_001407585.1:c.1241dup NP_001394514.1:p.Asp414fs frameshift NM_001407587.1:c.1238dup NP_001394516.1:p.Asp413fs frameshift NM_001407590.1:c.1238dup NP_001394519.1:p.Asp413fs frameshift NM_001407591.1:c.1238dup NP_001394520.1:p.Asp413fs frameshift NM_001407593.1:c.1241dup NP_001394522.1:p.Asp414fs frameshift NM_001407594.1:c.1241dup NP_001394523.1:p.Asp414fs frameshift NM_001407596.1:c.1241dup NP_001394525.1:p.Asp414fs frameshift NM_001407597.1:c.1241dup NP_001394526.1:p.Asp414fs frameshift NM_001407598.1:c.1241dup NP_001394527.1:p.Asp414fs frameshift NM_001407602.1:c.1241dup NP_001394531.1:p.Asp414fs frameshift NM_001407603.1:c.1241dup NP_001394532.1:p.Asp414fs frameshift NM_001407605.1:c.1241dup NP_001394534.1:p.Asp414fs frameshift NM_001407610.1:c.1238dup NP_001394539.1:p.Asp413fs frameshift NM_001407611.1:c.1238dup NP_001394540.1:p.Asp413fs frameshift NM_001407612.1:c.1238dup NP_001394541.1:p.Asp413fs frameshift NM_001407613.1:c.1238dup NP_001394542.1:p.Asp413fs frameshift NM_001407614.1:c.1238dup NP_001394543.1:p.Asp413fs frameshift NM_001407615.1:c.1238dup NP_001394544.1:p.Asp413fs frameshift NM_001407616.1:c.1241dup NP_001394545.1:p.Asp414fs frameshift NM_001407617.1:c.1241dup NP_001394546.1:p.Asp414fs frameshift NM_001407618.1:c.1241dup NP_001394547.1:p.Asp414fs frameshift NM_001407619.1:c.1241dup NP_001394548.1:p.Asp414fs frameshift NM_001407620.1:c.1241dup NP_001394549.1:p.Asp414fs frameshift NM_001407621.1:c.1241dup NP_001394550.1:p.Asp414fs frameshift NM_001407622.1:c.1241dup NP_001394551.1:p.Asp414fs frameshift NM_001407623.1:c.1241dup NP_001394552.1:p.Asp414fs frameshift NM_001407624.1:c.1241dup NP_001394553.1:p.Asp414fs frameshift NM_001407625.1:c.1241dup NP_001394554.1:p.Asp414fs frameshift NM_001407626.1:c.1241dup NP_001394555.1:p.Asp414fs frameshift NM_001407627.1:c.1238dup NP_001394556.1:p.Asp413fs frameshift NM_001407628.1:c.1238dup NP_001394557.1:p.Asp413fs frameshift NM_001407629.1:c.1238dup NP_001394558.1:p.Asp413fs frameshift NM_001407630.1:c.1238dup NP_001394559.1:p.Asp413fs frameshift NM_001407631.1:c.1238dup NP_001394560.1:p.Asp413fs frameshift NM_001407632.1:c.1238dup NP_001394561.1:p.Asp413fs frameshift NM_001407633.1:c.1238dup NP_001394562.1:p.Asp413fs frameshift NM_001407634.1:c.1238dup NP_001394563.1:p.Asp413fs frameshift NM_001407635.1:c.1238dup NP_001394564.1:p.Asp413fs frameshift NM_001407636.1:c.1238dup NP_001394565.1:p.Asp413fs frameshift NM_001407637.1:c.1238dup NP_001394566.1:p.Asp413fs frameshift NM_001407638.1:c.1238dup NP_001394567.1:p.Asp413fs frameshift NM_001407639.1:c.1241dup NP_001394568.1:p.Asp414fs frameshift NM_001407640.1:c.1241dup NP_001394569.1:p.Asp414fs frameshift NM_001407641.1:c.1241dup NP_001394570.1:p.Asp414fs frameshift NM_001407642.1:c.1241dup NP_001394571.1:p.Asp414fs frameshift NM_001407644.1:c.1238dup NP_001394573.1:p.Asp413fs frameshift NM_001407645.1:c.1238dup NP_001394574.1:p.Asp413fs frameshift NM_001407646.1:c.1232dup NP_001394575.1:p.Asp411fs frameshift NM_001407647.1:c.1232dup NP_001394576.1:p.Asp411fs frameshift NM_001407648.1:c.1118dup NP_001394577.1:p.Asp373fs frameshift NM_001407649.1:c.1115dup NP_001394578.1:p.Asp372fs frameshift NM_001407652.1:c.1241dup NP_001394581.1:p.Asp414fs frameshift NM_001407653.1:c.1163dup NP_001394582.1:p.Asp388fs frameshift NM_001407654.1:c.1163dup NP_001394583.1:p.Asp388fs frameshift NM_001407655.1:c.1163dup NP_001394584.1:p.Asp388fs frameshift NM_001407656.1:c.1163dup NP_001394585.1:p.Asp388fs frameshift NM_001407657.1:c.1163dup NP_001394586.1:p.Asp388fs frameshift NM_001407658.1:c.1163dup NP_001394587.1:p.Asp388fs frameshift NM_001407659.1:c.1160dup NP_001394588.1:p.Asp387fs frameshift NM_001407660.1:c.1160dup NP_001394589.1:p.Asp387fs frameshift NM_001407661.1:c.1160dup NP_001394590.1:p.Asp387fs frameshift NM_001407662.1:c.1160dup NP_001394591.1:p.Asp387fs frameshift NM_001407663.1:c.1163dup NP_001394592.1:p.Asp388fs frameshift NM_001407664.1:c.1118dup NP_001394593.1:p.Asp373fs frameshift NM_001407665.1:c.1118dup NP_001394594.1:p.Asp373fs frameshift NM_001407666.1:c.1118dup NP_001394595.1:p.Asp373fs frameshift NM_001407667.1:c.1118dup NP_001394596.1:p.Asp373fs frameshift NM_001407668.1:c.1118dup NP_001394597.1:p.Asp373fs frameshift NM_001407669.1:c.1118dup NP_001394598.1:p.Asp373fs frameshift NM_001407670.1:c.1115dup NP_001394599.1:p.Asp372fs frameshift NM_001407671.1:c.1115dup NP_001394600.1:p.Asp372fs frameshift NM_001407672.1:c.1115dup NP_001394601.1:p.Asp372fs frameshift NM_001407673.1:c.1115dup NP_001394602.1:p.Asp372fs frameshift NM_001407674.1:c.1118dup NP_001394603.1:p.Asp373fs frameshift NM_001407675.1:c.1118dup NP_001394604.1:p.Asp373fs frameshift NM_001407676.1:c.1118dup NP_001394605.1:p.Asp373fs frameshift NM_001407677.1:c.1118dup NP_001394606.1:p.Asp373fs frameshift NM_001407678.1:c.1118dup NP_001394607.1:p.Asp373fs frameshift NM_001407679.1:c.1118dup NP_001394608.1:p.Asp373fs frameshift NM_001407680.1:c.1118dup NP_001394609.1:p.Asp373fs frameshift NM_001407681.1:c.1118dup NP_001394610.1:p.Asp373fs frameshift NM_001407682.1:c.1118dup NP_001394611.1:p.Asp373fs frameshift NM_001407683.1:c.1118dup NP_001394612.1:p.Asp373fs frameshift NM_001407684.1:c.1241dup NP_001394613.1:p.Asp414fs frameshift NM_001407685.1:c.1115dup NP_001394614.1:p.Asp372fs frameshift NM_001407686.1:c.1115dup NP_001394615.1:p.Asp372fs frameshift NM_001407687.1:c.1115dup NP_001394616.1:p.Asp372fs frameshift NM_001407688.1:c.1115dup NP_001394617.1:p.Asp372fs frameshift NM_001407689.1:c.1115dup NP_001394618.1:p.Asp372fs frameshift NM_001407690.1:c.1115dup NP_001394619.1:p.Asp372fs frameshift NM_001407691.1:c.1115dup NP_001394620.1:p.Asp372fs frameshift NM_001407692.1:c.1100dup NP_001394621.1:p.Asp367fs frameshift NM_001407694.1:c.1100dup NP_001394623.1:p.Asp367fs frameshift NM_001407695.1:c.1100dup NP_001394624.1:p.Asp367fs frameshift NM_001407696.1:c.1100dup NP_001394625.1:p.Asp367fs frameshift NM_001407697.1:c.1100dup NP_001394626.1:p.Asp367fs frameshift NM_001407698.1:c.1100dup NP_001394627.1:p.Asp367fs frameshift NM_001407724.1:c.1100dup NP_001394653.1:p.Asp367fs frameshift NM_001407725.1:c.1100dup NP_001394654.1:p.Asp367fs frameshift NM_001407726.1:c.1100dup NP_001394655.1:p.Asp367fs frameshift NM_001407727.1:c.1100dup NP_001394656.1:p.Asp367fs frameshift NM_001407728.1:c.1100dup NP_001394657.1:p.Asp367fs frameshift NM_001407729.1:c.1100dup NP_001394658.1:p.Asp367fs frameshift NM_001407730.1:c.1100dup NP_001394659.1:p.Asp367fs frameshift NM_001407731.1:c.1100dup NP_001394660.1:p.Asp367fs frameshift NM_001407732.1:c.1100dup NP_001394661.1:p.Asp367fs frameshift NM_001407733.1:c.1100dup NP_001394662.1:p.Asp367fs frameshift NM_001407734.1:c.1100dup NP_001394663.1:p.Asp367fs frameshift NM_001407735.1:c.1100dup NP_001394664.1:p.Asp367fs frameshift NM_001407736.1:c.1100dup NP_001394665.1:p.Asp367fs frameshift NM_001407737.1:c.1100dup NP_001394666.1:p.Asp367fs frameshift NM_001407738.1:c.1100dup NP_001394667.1:p.Asp367fs frameshift NM_001407739.1:c.1100dup NP_001394668.1:p.Asp367fs frameshift NM_001407740.1:c.1097dup NP_001394669.1:p.Asp366fs frameshift NM_001407741.1:c.1097dup NP_001394670.1:p.Asp366fs frameshift NM_001407742.1:c.1097dup NP_001394671.1:p.Asp366fs frameshift NM_001407743.1:c.1097dup NP_001394672.1:p.Asp366fs frameshift NM_001407744.1:c.1097dup NP_001394673.1:p.Asp366fs frameshift NM_001407745.1:c.1097dup NP_001394674.1:p.Asp366fs frameshift NM_001407746.1:c.1097dup NP_001394675.1:p.Asp366fs frameshift NM_001407747.1:c.1097dup NP_001394676.1:p.Asp366fs frameshift NM_001407748.1:c.1097dup NP_001394677.1:p.Asp366fs frameshift NM_001407749.1:c.1097dup NP_001394678.1:p.Asp366fs frameshift NM_001407750.1:c.1100dup NP_001394679.1:p.Asp367fs frameshift NM_001407751.1:c.1100dup NP_001394680.1:p.Asp367fs frameshift NM_001407752.1:c.1100dup NP_001394681.1:p.Asp367fs frameshift NM_001407838.1:c.1097dup NP_001394767.1:p.Asp366fs frameshift NM_001407839.1:c.1097dup NP_001394768.1:p.Asp366fs frameshift NM_001407841.1:c.1097dup NP_001394770.1:p.Asp366fs frameshift NM_001407842.1:c.1097dup NP_001394771.1:p.Asp366fs frameshift NM_001407843.1:c.1097dup NP_001394772.1:p.Asp366fs frameshift NM_001407844.1:c.1097dup NP_001394773.1:p.Asp366fs frameshift NM_001407845.1:c.1097dup NP_001394774.1:p.Asp366fs frameshift NM_001407846.1:c.1097dup NP_001394775.1:p.Asp366fs frameshift NM_001407847.1:c.1097dup NP_001394776.1:p.Asp366fs frameshift NM_001407848.1:c.1097dup NP_001394777.1:p.Asp366fs frameshift NM_001407849.1:c.1097dup NP_001394778.1:p.Asp366fs frameshift NM_001407850.1:c.1100dup NP_001394779.1:p.Asp367fs frameshift NM_001407851.1:c.1100dup NP_001394780.1:p.Asp367fs frameshift NM_001407852.1:c.1100dup NP_001394781.1:p.Asp367fs frameshift NM_001407853.1:c.1028dup NP_001394782.1:p.Asp343fs frameshift NM_001407854.1:c.1241dup NP_001394783.1:p.Asp414fs frameshift NM_001407858.1:c.1241dup NP_001394787.1:p.Asp414fs frameshift NM_001407859.1:c.1241dup NP_001394788.1:p.Asp414fs frameshift NM_001407860.1:c.1238dup NP_001394789.1:p.Asp413fs frameshift NM_001407861.1:c.1238dup NP_001394790.1:p.Asp413fs frameshift NM_001407862.1:c.1040dup NP_001394791.1:p.Asp347fs frameshift NM_001407863.1:c.1118dup NP_001394792.1:p.Asp373fs frameshift NM_001407874.1:c.1037dup NP_001394803.1:p.Asp346fs frameshift NM_001407875.1:c.1037dup NP_001394804.1:p.Asp346fs frameshift NM_001407879.1:c.1031dup NP_001394808.1:p.Asp344fs frameshift NM_001407881.1:c.1031dup NP_001394810.1:p.Asp344fs frameshift NM_001407882.1:c.1031dup NP_001394811.1:p.Asp344fs frameshift NM_001407884.1:c.1031dup NP_001394813.1:p.Asp344fs frameshift NM_001407885.1:c.1031dup NP_001394814.1:p.Asp344fs frameshift NM_001407886.1:c.1031dup NP_001394815.1:p.Asp344fs frameshift NM_001407887.1:c.1031dup NP_001394816.1:p.Asp344fs frameshift NM_001407889.1:c.1031dup NP_001394818.1:p.Asp344fs frameshift NM_001407894.1:c.1028dup NP_001394823.1:p.Asp343fs frameshift NM_001407895.1:c.1028dup NP_001394824.1:p.Asp343fs frameshift NM_001407896.1:c.1028dup NP_001394825.1:p.Asp343fs frameshift NM_001407897.1:c.1028dup NP_001394826.1:p.Asp343fs frameshift NM_001407898.1:c.1028dup NP_001394827.1:p.Asp343fs frameshift NM_001407899.1:c.1028dup NP_001394828.1:p.Asp343fs frameshift NM_001407900.1:c.1031dup NP_001394829.1:p.Asp344fs frameshift NM_001407902.1:c.1031dup NP_001394831.1:p.Asp344fs frameshift NM_001407904.1:c.1031dup NP_001394833.1:p.Asp344fs frameshift NM_001407906.1:c.1031dup NP_001394835.1:p.Asp344fs frameshift NM_001407907.1:c.1031dup NP_001394836.1:p.Asp344fs frameshift NM_001407908.1:c.1031dup NP_001394837.1:p.Asp344fs frameshift NM_001407909.1:c.1031dup NP_001394838.1:p.Asp344fs frameshift NM_001407910.1:c.1031dup NP_001394839.1:p.Asp344fs frameshift NM_001407915.1:c.1028dup NP_001394844.1:p.Asp343fs frameshift NM_001407916.1:c.1028dup NP_001394845.1:p.Asp343fs frameshift NM_001407917.1:c.1028dup NP_001394846.1:p.Asp343fs frameshift NM_001407918.1:c.1028dup NP_001394847.1:p.Asp343fs frameshift NM_001407919.1:c.1118dup NP_001394848.1:p.Asp373fs frameshift NM_001407920.1:c.977dup NP_001394849.1:p.Asp326fs frameshift NM_001407921.1:c.977dup NP_001394850.1:p.Asp326fs frameshift NM_001407922.1:c.977dup NP_001394851.1:p.Asp326fs frameshift NM_001407923.1:c.977dup NP_001394852.1:p.Asp326fs frameshift NM_001407924.1:c.977dup NP_001394853.1:p.Asp326fs frameshift NM_001407925.1:c.977dup NP_001394854.1:p.Asp326fs frameshift NM_001407926.1:c.977dup NP_001394855.1:p.Asp326fs frameshift NM_001407927.1:c.977dup NP_001394856.1:p.Asp326fs frameshift NM_001407928.1:c.977dup NP_001394857.1:p.Asp326fs frameshift NM_001407929.1:c.977dup NP_001394858.1:p.Asp326fs frameshift NM_001407930.1:c.974dup NP_001394859.1:p.Asp325fs frameshift NM_001407931.1:c.974dup NP_001394860.1:p.Asp325fs frameshift NM_001407932.1:c.974dup NP_001394861.1:p.Asp325fs frameshift NM_001407933.1:c.977dup NP_001394862.1:p.Asp326fs frameshift NM_001407934.1:c.974dup NP_001394863.1:p.Asp325fs frameshift NM_001407935.1:c.977dup NP_001394864.1:p.Asp326fs frameshift NM_001407936.1:c.974dup NP_001394865.1:p.Asp325fs frameshift NM_001407937.1:c.1118dup NP_001394866.1:p.Asp373fs frameshift NM_001407938.1:c.1118dup NP_001394867.1:p.Asp373fs frameshift NM_001407939.1:c.1118dup NP_001394868.1:p.Asp373fs frameshift NM_001407940.1:c.1115dup NP_001394869.1:p.Asp372fs frameshift NM_001407941.1:c.1115dup NP_001394870.1:p.Asp372fs frameshift NM_001407942.1:c.1100dup NP_001394871.1:p.Asp367fs frameshift NM_001407943.1:c.1097dup NP_001394872.1:p.Asp366fs frameshift NM_001407944.1:c.1100dup NP_001394873.1:p.Asp367fs frameshift NM_001407945.1:c.1100dup NP_001394874.1:p.Asp367fs frameshift NM_001407946.1:c.908dup NP_001394875.1:p.Asp303fs frameshift NM_001407947.1:c.908dup NP_001394876.1:p.Asp303fs frameshift NM_001407948.1:c.908dup NP_001394877.1:p.Asp303fs frameshift NM_001407949.1:c.908dup NP_001394878.1:p.Asp303fs frameshift NM_001407950.1:c.908dup NP_001394879.1:p.Asp303fs frameshift NM_001407951.1:c.908dup NP_001394880.1:p.Asp303fs frameshift NM_001407952.1:c.908dup NP_001394881.1:p.Asp303fs frameshift NM_001407953.1:c.908dup NP_001394882.1:p.Asp303fs frameshift NM_001407954.1:c.905dup NP_001394883.1:p.Asp302fs frameshift NM_001407955.1:c.905dup NP_001394884.1:p.Asp302fs frameshift NM_001407956.1:c.905dup NP_001394885.1:p.Asp302fs frameshift NM_001407957.1:c.908dup NP_001394886.1:p.Asp303fs frameshift NM_001407958.1:c.905dup NP_001394887.1:p.Asp302fs frameshift NM_001407959.1:c.860dup NP_001394888.1:p.Asp287fs frameshift NM_001407960.1:c.860dup NP_001394889.1:p.Asp287fs frameshift NM_001407962.1:c.857dup NP_001394891.1:p.Asp286fs frameshift NM_001407963.1:c.860dup NP_001394892.1:p.Asp287fs frameshift NM_001407964.1:c.1097dup NP_001394893.1:p.Asp366fs frameshift NM_001407965.1:c.737dup NP_001394894.1:p.Asp246fs frameshift NM_001407966.1:c.353dup NP_001394895.1:p.Asp118fs frameshift NM_001407967.1:c.353dup NP_001394896.1:p.Asp118fs frameshift NM_001407968.1:c.787+454dup intron variant NM_001407969.1:c.787+454dup intron variant NM_001407970.1:c.787+454dup intron variant NM_001407971.1:c.787+454dup intron variant NM_001407972.1:c.784+454dup intron variant NM_001407973.1:c.787+454dup intron variant NM_001407974.1:c.787+454dup intron variant NM_001407975.1:c.787+454dup intron variant NM_001407976.1:c.787+454dup intron variant NM_001407977.1:c.787+454dup intron variant NM_001407978.1:c.787+454dup intron variant NM_001407979.1:c.787+454dup intron variant NM_001407980.1:c.787+454dup intron variant NM_001407981.1:c.787+454dup intron variant NM_001407982.1:c.787+454dup intron variant NM_001407983.1:c.787+454dup intron variant NM_001407984.1:c.784+454dup intron variant NM_001407985.1:c.784+454dup intron variant NM_001407986.1:c.784+454dup intron variant NM_001407990.1:c.787+454dup intron variant NM_001407991.1:c.784+454dup intron variant NM_001407992.1:c.784+454dup intron variant NM_001407993.1:c.787+454dup intron variant NM_001408392.1:c.784+454dup intron variant NM_001408396.1:c.784+454dup intron variant NM_001408397.1:c.784+454dup intron variant NM_001408398.1:c.784+454dup intron variant NM_001408399.1:c.784+454dup intron variant NM_001408400.1:c.784+454dup intron variant NM_001408401.1:c.784+454dup intron variant NM_001408402.1:c.784+454dup intron variant NM_001408403.1:c.787+454dup intron variant NM_001408404.1:c.787+454dup intron variant NM_001408406.1:c.790+451dup intron variant NM_001408407.1:c.784+454dup intron variant NM_001408408.1:c.778+454dup intron variant NM_001408409.1:c.709+454dup intron variant NM_001408410.1:c.646+454dup intron variant NM_001408411.1:c.709+454dup intron variant NM_001408412.1:c.709+454dup intron variant NM_001408413.1:c.706+454dup intron variant NM_001408414.1:c.709+454dup intron variant NM_001408415.1:c.709+454dup intron variant NM_001408416.1:c.706+454dup intron variant NM_001408418.1:c.670+1556dup intron variant NM_001408419.1:c.670+1556dup intron variant NM_001408420.1:c.670+1556dup intron variant NM_001408421.1:c.667+1556dup intron variant NM_001408422.1:c.670+1556dup intron variant NM_001408423.1:c.670+1556dup intron variant NM_001408424.1:c.667+1556dup intron variant NM_001408425.1:c.664+454dup intron variant NM_001408426.1:c.664+454dup intron variant NM_001408427.1:c.664+454dup intron variant NM_001408428.1:c.664+454dup intron variant NM_001408429.1:c.664+454dup intron variant NM_001408430.1:c.664+454dup intron variant NM_001408431.1:c.667+1556dup intron variant NM_001408432.1:c.661+454dup intron variant NM_001408433.1:c.661+454dup intron variant NM_001408434.1:c.661+454dup intron variant NM_001408435.1:c.661+454dup intron variant NM_001408436.1:c.664+454dup intron variant NM_001408437.1:c.664+454dup intron variant NM_001408438.1:c.664+454dup intron variant NM_001408439.1:c.664+454dup intron variant NM_001408440.1:c.664+454dup intron variant NM_001408441.1:c.664+454dup intron variant NM_001408442.1:c.664+454dup intron variant NM_001408443.1:c.664+454dup intron variant NM_001408444.1:c.664+454dup intron variant NM_001408445.1:c.661+454dup intron variant NM_001408446.1:c.661+454dup intron variant NM_001408447.1:c.661+454dup intron variant NM_001408448.1:c.661+454dup intron variant NM_001408450.1:c.661+454dup intron variant NM_001408451.1:c.652+454dup intron variant NM_001408452.1:c.646+454dup intron variant NM_001408453.1:c.646+454dup intron variant NM_001408454.1:c.646+454dup intron variant NM_001408455.1:c.646+454dup intron variant NM_001408456.1:c.646+454dup intron variant NM_001408457.1:c.646+454dup intron variant NM_001408458.1:c.646+454dup intron variant NM_001408459.1:c.646+454dup intron variant NM_001408460.1:c.646+454dup intron variant NM_001408461.1:c.646+454dup intron variant NM_001408462.1:c.643+454dup intron variant NM_001408463.1:c.643+454dup intron variant NM_001408464.1:c.643+454dup intron variant NM_001408465.1:c.643+454dup intron variant NM_001408466.1:c.646+454dup intron variant NM_001408467.1:c.646+454dup intron variant NM_001408468.1:c.643+454dup intron variant NM_001408469.1:c.646+454dup intron variant NM_001408470.1:c.643+454dup intron variant NM_001408472.1:c.787+454dup intron variant NM_001408473.1:c.784+454dup intron variant NM_001408474.1:c.586+454dup intron variant NM_001408475.1:c.583+454dup intron variant NM_001408476.1:c.586+454dup intron variant NM_001408478.1:c.577+454dup intron variant NM_001408479.1:c.577+454dup intron variant NM_001408480.1:c.577+454dup intron variant NM_001408481.1:c.577+454dup intron variant NM_001408482.1:c.577+454dup intron variant NM_001408483.1:c.577+454dup intron variant NM_001408484.1:c.577+454dup intron variant NM_001408485.1:c.577+454dup intron variant NM_001408489.1:c.577+454dup intron variant NM_001408490.1:c.574+454dup intron variant NM_001408491.1:c.574+454dup intron variant NM_001408492.1:c.577+454dup intron variant NM_001408493.1:c.574+454dup intron variant NM_001408494.1:c.548-3258dup intron variant NM_001408495.1:c.545-3258dup intron variant NM_001408496.1:c.523+454dup intron variant NM_001408497.1:c.523+454dup intron variant NM_001408498.1:c.523+454dup intron variant NM_001408499.1:c.523+454dup intron variant NM_001408500.1:c.523+454dup intron variant NM_001408501.1:c.523+454dup intron variant NM_001408502.1:c.454+454dup intron variant NM_001408503.1:c.520+454dup intron variant NM_001408504.1:c.520+454dup intron variant NM_001408505.1:c.520+454dup intron variant NM_001408506.1:c.460+1556dup intron variant NM_001408507.1:c.460+1556dup intron variant NM_001408508.1:c.451+454dup intron variant NM_001408509.1:c.451+454dup intron variant NM_001408510.1:c.406+454dup intron variant NM_001408511.1:c.404-3258dup intron variant NM_001408512.1:c.283+454dup intron variant NM_001408513.1:c.577+454dup intron variant NM_001408514.1:c.577+454dup intron variant NM_007294.3:c.1241dupA frameshift NM_007297.4:c.1100dup NP_009228.2:p.Asp367fs frameshift NM_007298.4:c.787+454dup intron variant NM_007299.4:c.787+454dup intron variant NM_007300.4:c.1241dup NP_009231.2:p.Asp414fs frameshift NR_027676.1:n.1377dup NC_000017.11:g.43094290dup NC_000017.10:g.41246307dup NG_005905.2:g.123694dup LRG_292:g.123694dup LRG_292t1:c.1241dup LRG_292p1:p.Asp414Glufs U14680.1:n.1360_1361insA - Protein change
- D414fs, D367fs, D287fs, D303fs, D366fs, D118fs, D326fs, D344fs, D346fs, D411fs, D246fs, D325fs, D413fs, D286fs, D302fs, D343fs, D347fs, D372fs, D373fs, D387fs, D388fs
- Other names
-
1360insA
- Canonical SPDI
- NC_000017.11:43094289:T:TT
-
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 |
13158 | 14988 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (3) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000111571.13 | |
| Pathogenic (1) |
no assertion criteria provided
|
Jan 31, 2014 | RCV000496226.9 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(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: SCV000299562.2
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: SCV000324992.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Jan 31, 2014)
|
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: SCV000587114.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
|
|
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: SCV000144037.1
First in ClinVar: Apr 04, 2014 Last updated: Apr 04, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Italy
|
Comment:
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.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs80357514 ...
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 25, 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.