ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3314del (p.His1105fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3314del (p.His1105fs)
Variation ID: 54835 Accession: VCV000054835.7
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092217 (GRCh38) [ NCBI UCSC ] 17: 41244234 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 22, 2016 Feb 14, 2024 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3314del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.His1105fs frameshift NM_001407571.1:c.3101del NP_001394500.1:p.His1034fs frameshift NM_001407581.1:c.3314del NP_001394510.1:p.His1105fs frameshift NM_001407582.1:c.3314del NP_001394511.1:p.His1105fs frameshift NM_001407583.1:c.3314del NP_001394512.1:p.His1105fs frameshift NM_001407585.1:c.3314del NP_001394514.1:p.His1105fs frameshift NM_001407587.1:c.3311del NP_001394516.1:p.His1104fs frameshift NM_001407590.1:c.3311del NP_001394519.1:p.His1104fs frameshift NM_001407591.1:c.3311del NP_001394520.1:p.His1104fs frameshift NM_001407593.1:c.3314del NP_001394522.1:p.His1105fs frameshift NM_001407594.1:c.3314del NP_001394523.1:p.His1105fs frameshift NM_001407596.1:c.3314del NP_001394525.1:p.His1105fs frameshift NM_001407597.1:c.3314del NP_001394526.1:p.His1105fs frameshift NM_001407598.1:c.3314del NP_001394527.1:p.His1105fs frameshift NM_001407602.1:c.3314del NP_001394531.1:p.His1105fs frameshift NM_001407603.1:c.3314del NP_001394532.1:p.His1105fs frameshift NM_001407605.1:c.3314del NP_001394534.1:p.His1105fs frameshift NM_001407610.1:c.3311del NP_001394539.1:p.His1104fs frameshift NM_001407611.1:c.3311del NP_001394540.1:p.His1104fs frameshift NM_001407612.1:c.3311del NP_001394541.1:p.His1104fs frameshift NM_001407613.1:c.3311del NP_001394542.1:p.His1104fs frameshift NM_001407614.1:c.3311del NP_001394543.1:p.His1104fs frameshift NM_001407615.1:c.3311del NP_001394544.1:p.His1104fs frameshift NM_001407616.1:c.3314del NP_001394545.1:p.His1105fs frameshift NM_001407617.1:c.3314del NP_001394546.1:p.His1105fs frameshift NM_001407618.1:c.3314del NP_001394547.1:p.His1105fs frameshift NM_001407619.1:c.3314del NP_001394548.1:p.His1105fs frameshift NM_001407620.1:c.3314del NP_001394549.1:p.His1105fs frameshift NM_001407621.1:c.3314del NP_001394550.1:p.His1105fs frameshift NM_001407622.1:c.3314del NP_001394551.1:p.His1105fs frameshift NM_001407623.1:c.3314del NP_001394552.1:p.His1105fs frameshift NM_001407624.1:c.3314del NP_001394553.1:p.His1105fs frameshift NM_001407625.1:c.3314del NP_001394554.1:p.His1105fs frameshift NM_001407626.1:c.3314del NP_001394555.1:p.His1105fs frameshift NM_001407627.1:c.3311del NP_001394556.1:p.His1104fs frameshift NM_001407628.1:c.3311del NP_001394557.1:p.His1104fs frameshift NM_001407629.1:c.3311del NP_001394558.1:p.His1104fs frameshift NM_001407630.1:c.3311del NP_001394559.1:p.His1104fs frameshift NM_001407631.1:c.3311del NP_001394560.1:p.His1104fs frameshift NM_001407632.1:c.3311del NP_001394561.1:p.His1104fs frameshift NM_001407633.1:c.3311del NP_001394562.1:p.His1104fs frameshift NM_001407634.1:c.3311del NP_001394563.1:p.His1104fs frameshift NM_001407635.1:c.3311del NP_001394564.1:p.His1104fs frameshift NM_001407636.1:c.3311del NP_001394565.1:p.His1104fs frameshift NM_001407637.1:c.3311del NP_001394566.1:p.His1104fs frameshift NM_001407638.1:c.3311del NP_001394567.1:p.His1104fs frameshift NM_001407639.1:c.3314del NP_001394568.1:p.His1105fs frameshift NM_001407640.1:c.3314del NP_001394569.1:p.His1105fs frameshift NM_001407641.1:c.3314del NP_001394570.1:p.His1105fs frameshift NM_001407642.1:c.3314del NP_001394571.1:p.His1105fs frameshift NM_001407644.1:c.3311del NP_001394573.1:p.His1104fs frameshift NM_001407645.1:c.3311del NP_001394574.1:p.His1104fs frameshift NM_001407646.1:c.3305del NP_001394575.1:p.His1102fs frameshift NM_001407647.1:c.3305del NP_001394576.1:p.His1102fs frameshift NM_001407648.1:c.3191del NP_001394577.1:p.His1064fs frameshift NM_001407649.1:c.3188del NP_001394578.1:p.His1063fs frameshift NM_001407652.1:c.3314del NP_001394581.1:p.His1105fs frameshift NM_001407653.1:c.3236del NP_001394582.1:p.His1079fs frameshift NM_001407654.1:c.3236del NP_001394583.1:p.His1079fs frameshift NM_001407655.1:c.3236del NP_001394584.1:p.His1079fs frameshift NM_001407656.1:c.3236del NP_001394585.1:p.His1079fs frameshift NM_001407657.1:c.3236del NP_001394586.1:p.His1079fs frameshift NM_001407658.1:c.3236del NP_001394587.1:p.His1079fs frameshift NM_001407659.1:c.3233del NP_001394588.1:p.His1078fs frameshift NM_001407660.1:c.3233del NP_001394589.1:p.His1078fs frameshift NM_001407661.1:c.3233del NP_001394590.1:p.His1078fs frameshift NM_001407662.1:c.3233del NP_001394591.1:p.His1078fs frameshift NM_001407663.1:c.3236del NP_001394592.1:p.His1079fs frameshift NM_001407664.1:c.3191del NP_001394593.1:p.His1064fs frameshift NM_001407665.1:c.3191del NP_001394594.1:p.His1064fs frameshift NM_001407666.1:c.3191del NP_001394595.1:p.His1064fs frameshift NM_001407667.1:c.3191del NP_001394596.1:p.His1064fs frameshift NM_001407668.1:c.3191del NP_001394597.1:p.His1064fs frameshift NM_001407669.1:c.3191del NP_001394598.1:p.His1064fs frameshift NM_001407670.1:c.3188del NP_001394599.1:p.His1063fs frameshift NM_001407671.1:c.3188del NP_001394600.1:p.His1063fs frameshift NM_001407672.1:c.3188del NP_001394601.1:p.His1063fs frameshift NM_001407673.1:c.3188del NP_001394602.1:p.His1063fs frameshift NM_001407674.1:c.3191del NP_001394603.1:p.His1064fs frameshift NM_001407675.1:c.3191del NP_001394604.1:p.His1064fs frameshift NM_001407676.1:c.3191del NP_001394605.1:p.His1064fs frameshift NM_001407677.1:c.3191del NP_001394606.1:p.His1064fs frameshift NM_001407678.1:c.3191del NP_001394607.1:p.His1064fs frameshift NM_001407679.1:c.3191del NP_001394608.1:p.His1064fs frameshift NM_001407680.1:c.3191del NP_001394609.1:p.His1064fs frameshift NM_001407681.1:c.3191del NP_001394610.1:p.His1064fs frameshift NM_001407682.1:c.3191del NP_001394611.1:p.His1064fs frameshift NM_001407683.1:c.3191del NP_001394612.1:p.His1064fs frameshift NM_001407684.1:c.3314del NP_001394613.1:p.His1105fs frameshift NM_001407685.1:c.3188del NP_001394614.1:p.His1063fs frameshift NM_001407686.1:c.3188del NP_001394615.1:p.His1063fs frameshift NM_001407687.1:c.3188del NP_001394616.1:p.His1063fs frameshift NM_001407688.1:c.3188del NP_001394617.1:p.His1063fs frameshift NM_001407689.1:c.3188del NP_001394618.1:p.His1063fs frameshift NM_001407690.1:c.3188del NP_001394619.1:p.His1063fs frameshift NM_001407691.1:c.3188del NP_001394620.1:p.His1063fs frameshift NM_001407692.1:c.3173del NP_001394621.1:p.His1058fs frameshift NM_001407694.1:c.3173del NP_001394623.1:p.His1058fs frameshift NM_001407695.1:c.3173del NP_001394624.1:p.His1058fs frameshift NM_001407696.1:c.3173del NP_001394625.1:p.His1058fs frameshift NM_001407697.1:c.3173del NP_001394626.1:p.His1058fs frameshift NM_001407698.1:c.3173del NP_001394627.1:p.His1058fs frameshift NM_001407724.1:c.3173del NP_001394653.1:p.His1058fs frameshift NM_001407725.1:c.3173del NP_001394654.1:p.His1058fs frameshift NM_001407726.1:c.3173del NP_001394655.1:p.His1058fs frameshift NM_001407727.1:c.3173del NP_001394656.1:p.His1058fs frameshift NM_001407728.1:c.3173del NP_001394657.1:p.His1058fs frameshift NM_001407729.1:c.3173del NP_001394658.1:p.His1058fs frameshift NM_001407730.1:c.3173del NP_001394659.1:p.His1058fs frameshift NM_001407731.1:c.3173del NP_001394660.1:p.His1058fs frameshift NM_001407732.1:c.3173del NP_001394661.1:p.His1058fs frameshift NM_001407733.1:c.3173del NP_001394662.1:p.His1058fs frameshift NM_001407734.1:c.3173del NP_001394663.1:p.His1058fs frameshift NM_001407735.1:c.3173del NP_001394664.1:p.His1058fs frameshift NM_001407736.1:c.3173del NP_001394665.1:p.His1058fs frameshift NM_001407737.1:c.3173del NP_001394666.1:p.His1058fs frameshift NM_001407738.1:c.3173del NP_001394667.1:p.His1058fs frameshift NM_001407739.1:c.3173del NP_001394668.1:p.His1058fs frameshift NM_001407740.1:c.3170del NP_001394669.1:p.His1057fs frameshift NM_001407741.1:c.3170del NP_001394670.1:p.His1057fs frameshift NM_001407742.1:c.3170del NP_001394671.1:p.His1057fs frameshift NM_001407743.1:c.3170del NP_001394672.1:p.His1057fs frameshift NM_001407744.1:c.3170del NP_001394673.1:p.His1057fs frameshift NM_001407745.1:c.3170del NP_001394674.1:p.His1057fs frameshift NM_001407746.1:c.3170del NP_001394675.1:p.His1057fs frameshift NM_001407747.1:c.3170del NP_001394676.1:p.His1057fs frameshift NM_001407748.1:c.3170del NP_001394677.1:p.His1057fs frameshift NM_001407749.1:c.3170del NP_001394678.1:p.His1057fs frameshift NM_001407750.1:c.3173del NP_001394679.1:p.His1058fs frameshift NM_001407751.1:c.3173del NP_001394680.1:p.His1058fs frameshift NM_001407752.1:c.3173del NP_001394681.1:p.His1058fs frameshift NM_001407838.1:c.3170del NP_001394767.1:p.His1057fs frameshift NM_001407839.1:c.3170del NP_001394768.1:p.His1057fs frameshift NM_001407841.1:c.3170del NP_001394770.1:p.His1057fs frameshift NM_001407842.1:c.3170del NP_001394771.1:p.His1057fs frameshift NM_001407843.1:c.3170del NP_001394772.1:p.His1057fs frameshift NM_001407844.1:c.3170del NP_001394773.1:p.His1057fs frameshift NM_001407845.1:c.3170del NP_001394774.1:p.His1057fs frameshift NM_001407846.1:c.3170del NP_001394775.1:p.His1057fs frameshift NM_001407847.1:c.3170del NP_001394776.1:p.His1057fs frameshift NM_001407848.1:c.3170del NP_001394777.1:p.His1057fs frameshift NM_001407849.1:c.3170del NP_001394778.1:p.His1057fs frameshift NM_001407850.1:c.3173del NP_001394779.1:p.His1058fs frameshift NM_001407851.1:c.3173del NP_001394780.1:p.His1058fs frameshift NM_001407852.1:c.3173del NP_001394781.1:p.His1058fs frameshift NM_001407853.1:c.3101del NP_001394782.1:p.His1034fs frameshift NM_001407854.1:c.3314del NP_001394783.1:p.His1105fs frameshift NM_001407858.1:c.3314del NP_001394787.1:p.His1105fs frameshift NM_001407859.1:c.3314del NP_001394788.1:p.His1105fs frameshift NM_001407860.1:c.3311del NP_001394789.1:p.His1104fs frameshift NM_001407861.1:c.3311del NP_001394790.1:p.His1104fs frameshift NM_001407862.1:c.3113del NP_001394791.1:p.His1038fs frameshift NM_001407863.1:c.3191del NP_001394792.1:p.His1064fs frameshift NM_001407874.1:c.3110del NP_001394803.1:p.His1037fs frameshift NM_001407875.1:c.3110del NP_001394804.1:p.His1037fs frameshift NM_001407879.1:c.3104del NP_001394808.1:p.His1035fs frameshift NM_001407881.1:c.3104del NP_001394810.1:p.His1035fs frameshift NM_001407882.1:c.3104del NP_001394811.1:p.His1035fs frameshift NM_001407884.1:c.3104del NP_001394813.1:p.His1035fs frameshift NM_001407885.1:c.3104del NP_001394814.1:p.His1035fs frameshift NM_001407886.1:c.3104del NP_001394815.1:p.His1035fs frameshift NM_001407887.1:c.3104del NP_001394816.1:p.His1035fs frameshift NM_001407889.1:c.3104del NP_001394818.1:p.His1035fs frameshift NM_001407894.1:c.3101del NP_001394823.1:p.His1034fs frameshift NM_001407895.1:c.3101del NP_001394824.1:p.His1034fs frameshift NM_001407896.1:c.3101del NP_001394825.1:p.His1034fs frameshift NM_001407897.1:c.3101del NP_001394826.1:p.His1034fs frameshift NM_001407898.1:c.3101del NP_001394827.1:p.His1034fs frameshift NM_001407899.1:c.3101del NP_001394828.1:p.His1034fs frameshift NM_001407900.1:c.3104del NP_001394829.1:p.His1035fs frameshift NM_001407902.1:c.3104del NP_001394831.1:p.His1035fs frameshift NM_001407904.1:c.3104del NP_001394833.1:p.His1035fs frameshift NM_001407906.1:c.3104del NP_001394835.1:p.His1035fs frameshift NM_001407907.1:c.3104del NP_001394836.1:p.His1035fs frameshift NM_001407908.1:c.3104del NP_001394837.1:p.His1035fs frameshift NM_001407909.1:c.3104del NP_001394838.1:p.His1035fs frameshift NM_001407910.1:c.3104del NP_001394839.1:p.His1035fs frameshift NM_001407915.1:c.3101del NP_001394844.1:p.His1034fs frameshift NM_001407916.1:c.3101del NP_001394845.1:p.His1034fs frameshift NM_001407917.1:c.3101del NP_001394846.1:p.His1034fs frameshift NM_001407918.1:c.3101del NP_001394847.1:p.His1034fs frameshift NM_001407919.1:c.3191del NP_001394848.1:p.His1064fs frameshift NM_001407920.1:c.3050del NP_001394849.1:p.His1017fs frameshift NM_001407921.1:c.3050del NP_001394850.1:p.His1017fs frameshift NM_001407922.1:c.3050del NP_001394851.1:p.His1017fs frameshift NM_001407923.1:c.3050del NP_001394852.1:p.His1017fs frameshift NM_001407924.1:c.3050del NP_001394853.1:p.His1017fs frameshift NM_001407925.1:c.3050del NP_001394854.1:p.His1017fs frameshift NM_001407926.1:c.3050del NP_001394855.1:p.His1017fs frameshift NM_001407927.1:c.3050del NP_001394856.1:p.His1017fs frameshift NM_001407928.1:c.3050del NP_001394857.1:p.His1017fs frameshift NM_001407929.1:c.3050del NP_001394858.1:p.His1017fs frameshift NM_001407930.1:c.3047del NP_001394859.1:p.His1016fs frameshift NM_001407931.1:c.3047del NP_001394860.1:p.His1016fs frameshift NM_001407932.1:c.3047del NP_001394861.1:p.His1016fs frameshift NM_001407933.1:c.3050del NP_001394862.1:p.His1017fs frameshift NM_001407934.1:c.3047del NP_001394863.1:p.His1016fs frameshift NM_001407935.1:c.3050del NP_001394864.1:p.His1017fs frameshift NM_001407936.1:c.3047del NP_001394865.1:p.His1016fs frameshift NM_001407937.1:c.3191del NP_001394866.1:p.His1064fs frameshift NM_001407938.1:c.3191del NP_001394867.1:p.His1064fs frameshift NM_001407939.1:c.3191del NP_001394868.1:p.His1064fs frameshift NM_001407940.1:c.3188del NP_001394869.1:p.His1063fs frameshift NM_001407941.1:c.3188del NP_001394870.1:p.His1063fs frameshift NM_001407942.1:c.3173del NP_001394871.1:p.His1058fs frameshift NM_001407943.1:c.3170del NP_001394872.1:p.His1057fs frameshift NM_001407944.1:c.3173del NP_001394873.1:p.His1058fs frameshift NM_001407945.1:c.3173del NP_001394874.1:p.His1058fs frameshift NM_001407946.1:c.2981del NP_001394875.1:p.His994fs frameshift NM_001407947.1:c.2981del NP_001394876.1:p.His994fs frameshift NM_001407948.1:c.2981del NP_001394877.1:p.His994fs frameshift NM_001407949.1:c.2981del NP_001394878.1:p.His994fs frameshift NM_001407950.1:c.2981del NP_001394879.1:p.His994fs frameshift NM_001407951.1:c.2981del NP_001394880.1:p.His994fs frameshift NM_001407952.1:c.2981del NP_001394881.1:p.His994fs frameshift NM_001407953.1:c.2981del NP_001394882.1:p.His994fs frameshift NM_001407954.1:c.2978del NP_001394883.1:p.His993fs frameshift NM_001407955.1:c.2978del NP_001394884.1:p.His993fs frameshift NM_001407956.1:c.2978del NP_001394885.1:p.His993fs frameshift NM_001407957.1:c.2981del NP_001394886.1:p.His994fs frameshift NM_001407958.1:c.2978del NP_001394887.1:p.His993fs frameshift NM_001407959.1:c.2933del NP_001394888.1:p.His978fs frameshift NM_001407960.1:c.2933del NP_001394889.1:p.His978fs frameshift NM_001407962.1:c.2930del NP_001394891.1:p.His977fs frameshift NM_001407963.1:c.2933del NP_001394892.1:p.His978fs frameshift NM_001407964.1:c.3170del NP_001394893.1:p.His1057fs frameshift NM_001407965.1:c.2810del NP_001394894.1:p.His937fs frameshift NM_001407966.1:c.2426del NP_001394895.1:p.His809fs frameshift NM_001407967.1:c.2426del NP_001394896.1:p.His809fs frameshift NM_001407968.1:c.788-78del intron variant NM_001407969.1:c.788-78del intron variant NM_001407970.1:c.788-1185del intron variant NM_001407971.1:c.788-1185del intron variant NM_001407972.1:c.785-1185del intron variant NM_001407973.1:c.788-1185del intron variant NM_001407974.1:c.788-1185del intron variant NM_001407975.1:c.788-1185del intron variant NM_001407976.1:c.788-1185del intron variant NM_001407977.1:c.788-1185del intron variant NM_001407978.1:c.788-1185del intron variant NM_001407979.1:c.788-1185del intron variant NM_001407980.1:c.788-1185del intron variant NM_001407981.1:c.788-1185del intron variant NM_001407982.1:c.788-1185del intron variant NM_001407983.1:c.788-1185del intron variant NM_001407984.1:c.785-1185del intron variant NM_001407985.1:c.785-1185del intron variant NM_001407986.1:c.785-1185del intron variant NM_001407990.1:c.788-1185del intron variant NM_001407991.1:c.785-1185del intron variant NM_001407992.1:c.785-1185del intron variant NM_001407993.1:c.788-1185del intron variant NM_001408392.1:c.785-1185del intron variant NM_001408396.1:c.785-1185del intron variant NM_001408397.1:c.785-1185del intron variant NM_001408398.1:c.785-1185del intron variant NM_001408399.1:c.785-1185del intron variant NM_001408400.1:c.785-1185del intron variant NM_001408401.1:c.785-1185del intron variant NM_001408402.1:c.785-1185del intron variant NM_001408403.1:c.788-1185del intron variant NM_001408404.1:c.788-1185del intron variant NM_001408406.1:c.791-1194del intron variant NM_001408407.1:c.785-1185del intron variant NM_001408408.1:c.779-1185del intron variant NM_001408409.1:c.710-1185del intron variant NM_001408410.1:c.647-1185del intron variant NM_001408411.1:c.710-1185del intron variant NM_001408412.1:c.710-1185del intron variant NM_001408413.1:c.707-1185del intron variant NM_001408414.1:c.710-1185del intron variant NM_001408415.1:c.710-1185del intron variant NM_001408416.1:c.707-1185del intron variant NM_001408418.1:c.671-1185del intron variant NM_001408419.1:c.671-1185del intron variant NM_001408420.1:c.671-1185del intron variant NM_001408421.1:c.668-1185del intron variant NM_001408422.1:c.671-1185del intron variant NM_001408423.1:c.671-1185del intron variant NM_001408424.1:c.668-1185del intron variant NM_001408425.1:c.665-1185del intron variant NM_001408426.1:c.665-1185del intron variant NM_001408427.1:c.665-1185del intron variant NM_001408428.1:c.665-1185del intron variant NM_001408429.1:c.665-1185del intron variant NM_001408430.1:c.665-1185del intron variant NM_001408431.1:c.668-1185del intron variant NM_001408432.1:c.662-1185del intron variant NM_001408433.1:c.662-1185del intron variant NM_001408434.1:c.662-1185del intron variant NM_001408435.1:c.662-1185del intron variant NM_001408436.1:c.665-1185del intron variant NM_001408437.1:c.665-1185del intron variant NM_001408438.1:c.665-1185del intron variant NM_001408439.1:c.665-1185del intron variant NM_001408440.1:c.665-1185del intron variant NM_001408441.1:c.665-1185del intron variant NM_001408442.1:c.665-1185del intron variant NM_001408443.1:c.665-1185del intron variant NM_001408444.1:c.665-1185del intron variant NM_001408445.1:c.662-1185del intron variant NM_001408446.1:c.662-1185del intron variant NM_001408447.1:c.662-1185del intron variant NM_001408448.1:c.662-1185del intron variant NM_001408450.1:c.662-1185del intron variant NM_001408451.1:c.653-1185del intron variant NM_001408452.1:c.647-1185del intron variant NM_001408453.1:c.647-1185del intron variant NM_001408454.1:c.647-1185del intron variant NM_001408455.1:c.647-1185del intron variant NM_001408456.1:c.647-1185del intron variant NM_001408457.1:c.647-1185del intron variant NM_001408458.1:c.647-1185del intron variant NM_001408459.1:c.647-1185del intron variant NM_001408460.1:c.647-1185del intron variant NM_001408461.1:c.647-1185del intron variant NM_001408462.1:c.644-1185del intron variant NM_001408463.1:c.644-1185del intron variant NM_001408464.1:c.644-1185del intron variant NM_001408465.1:c.644-1185del intron variant NM_001408466.1:c.647-1185del intron variant NM_001408467.1:c.647-1185del intron variant NM_001408468.1:c.644-1185del intron variant NM_001408469.1:c.647-1185del intron variant NM_001408470.1:c.644-1185del intron variant NM_001408472.1:c.788-1185del intron variant NM_001408473.1:c.785-1185del intron variant NM_001408474.1:c.587-1185del intron variant NM_001408475.1:c.584-1185del intron variant NM_001408476.1:c.587-1185del intron variant NM_001408478.1:c.578-1185del intron variant NM_001408479.1:c.578-1185del intron variant NM_001408480.1:c.578-1185del intron variant NM_001408481.1:c.578-1185del intron variant NM_001408482.1:c.578-1185del intron variant NM_001408483.1:c.578-1185del intron variant NM_001408484.1:c.578-1185del intron variant NM_001408485.1:c.578-1185del intron variant NM_001408489.1:c.578-1185del intron variant NM_001408490.1:c.575-1185del intron variant NM_001408491.1:c.575-1185del intron variant NM_001408492.1:c.578-1185del intron variant NM_001408493.1:c.575-1185del intron variant NM_001408494.1:c.548-1185del intron variant NM_001408495.1:c.545-1185del intron variant NM_001408496.1:c.524-1185del intron variant NM_001408497.1:c.524-1185del intron variant NM_001408498.1:c.524-1185del intron variant NM_001408499.1:c.524-1185del intron variant NM_001408500.1:c.524-1185del intron variant NM_001408501.1:c.524-1185del intron variant NM_001408502.1:c.455-1185del intron variant NM_001408503.1:c.521-1185del intron variant NM_001408504.1:c.521-1185del intron variant NM_001408505.1:c.521-1185del intron variant NM_001408506.1:c.461-1185del intron variant NM_001408507.1:c.461-1185del intron variant NM_001408508.1:c.452-1185del intron variant NM_001408509.1:c.452-1185del intron variant NM_001408510.1:c.407-1185del intron variant NM_001408511.1:c.404-1185del intron variant NM_001408512.1:c.284-1185del intron variant NM_001408513.1:c.578-1185del intron variant NM_001408514.1:c.578-1185del intron variant NM_007297.4:c.3173del NP_009228.2:p.His1058fs frameshift NM_007298.4:c.788-1185del intron variant NM_007299.4:c.788-1185del intron variant NM_007300.4:c.3314del NP_009231.2:p.His1105fs frameshift NR_027676.1:n.3450delA NC_000017.11:g.43092217del NC_000017.10:g.41244234del NG_005905.2:g.125767del NG_087068.1:g.1199del LRG_292:g.125767del LRG_292t1:c.3314del LRG_292p1:p.His1105Leufs - Protein change
- H1058fs, H1105fs, H1017fs, H1035fs, H1057fs, H1064fs, H1078fs, H809fs, H978fs, H1016fs, H1037fs, H1063fs, H993fs, H1038fs, H1102fs, H937fs, H977fs, H1034fs, H1079fs, H1104fs, H994fs
- Other names
- 3433delA (Stop1108)
- Canonical SPDI
- NC_000017.11:43092216:T:
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 | |
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. |
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Pathogenic (3) |
reviewed by expert panel
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Oct 18, 2016 | RCV000257627.14 |
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. |
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Pathogenic
(Oct 18, 2016)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323588.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325608.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Mar 02, 2020)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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BRCAlab, Lund University
Accession: SCV004244056.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere 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 rs397509054 ...
HelpRecord last updated Oct 13, 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.