ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1276del (p.Ser426fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.1276del (p.Ser426fs)
Variation ID: 54184 Accession: VCV000054184.6
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094255 (GRCh38) [ NCBI UCSC ] 17: 41246272 (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 Nov 29, 2022 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1276del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser426fs frameshift NM_001407571.1:c.1063del NP_001394500.1:p.Ser355fs frameshift NM_001407581.1:c.1276del NP_001394510.1:p.Ser426fs frameshift NM_001407582.1:c.1276del NP_001394511.1:p.Ser426fs frameshift NM_001407583.1:c.1276del NP_001394512.1:p.Ser426fs frameshift NM_001407585.1:c.1276del NP_001394514.1:p.Ser426fs frameshift NM_001407587.1:c.1273del NP_001394516.1:p.Ser425fs frameshift NM_001407590.1:c.1273del NP_001394519.1:p.Ser425fs frameshift NM_001407591.1:c.1273del NP_001394520.1:p.Ser425fs frameshift NM_001407593.1:c.1276del NP_001394522.1:p.Ser426fs frameshift NM_001407594.1:c.1276del NP_001394523.1:p.Ser426fs frameshift NM_001407596.1:c.1276del NP_001394525.1:p.Ser426fs frameshift NM_001407597.1:c.1276del NP_001394526.1:p.Ser426fs frameshift NM_001407598.1:c.1276del NP_001394527.1:p.Ser426fs frameshift NM_001407602.1:c.1276del NP_001394531.1:p.Ser426fs frameshift NM_001407603.1:c.1276del NP_001394532.1:p.Ser426fs frameshift NM_001407605.1:c.1276del NP_001394534.1:p.Ser426fs frameshift NM_001407610.1:c.1273del NP_001394539.1:p.Ser425fs frameshift NM_001407611.1:c.1273del NP_001394540.1:p.Ser425fs frameshift NM_001407612.1:c.1273del NP_001394541.1:p.Ser425fs frameshift NM_001407613.1:c.1273del NP_001394542.1:p.Ser425fs frameshift NM_001407614.1:c.1273del NP_001394543.1:p.Ser425fs frameshift NM_001407615.1:c.1273del NP_001394544.1:p.Ser425fs frameshift NM_001407616.1:c.1276del NP_001394545.1:p.Ser426fs frameshift NM_001407617.1:c.1276del NP_001394546.1:p.Ser426fs frameshift NM_001407618.1:c.1276del NP_001394547.1:p.Ser426fs frameshift NM_001407619.1:c.1276del NP_001394548.1:p.Ser426fs frameshift NM_001407620.1:c.1276del NP_001394549.1:p.Ser426fs frameshift NM_001407621.1:c.1276del NP_001394550.1:p.Ser426fs frameshift NM_001407622.1:c.1276del NP_001394551.1:p.Ser426fs frameshift NM_001407623.1:c.1276del NP_001394552.1:p.Ser426fs frameshift NM_001407624.1:c.1276del NP_001394553.1:p.Ser426fs frameshift NM_001407625.1:c.1276del NP_001394554.1:p.Ser426fs frameshift NM_001407626.1:c.1276del NP_001394555.1:p.Ser426fs frameshift NM_001407627.1:c.1273del NP_001394556.1:p.Ser425fs frameshift NM_001407628.1:c.1273del NP_001394557.1:p.Ser425fs frameshift NM_001407629.1:c.1273del NP_001394558.1:p.Ser425fs frameshift NM_001407630.1:c.1273del NP_001394559.1:p.Ser425fs frameshift NM_001407631.1:c.1273del NP_001394560.1:p.Ser425fs frameshift NM_001407632.1:c.1273del NP_001394561.1:p.Ser425fs frameshift NM_001407633.1:c.1273del NP_001394562.1:p.Ser425fs frameshift NM_001407634.1:c.1273del NP_001394563.1:p.Ser425fs frameshift NM_001407635.1:c.1273del NP_001394564.1:p.Ser425fs frameshift NM_001407636.1:c.1273del NP_001394565.1:p.Ser425fs frameshift NM_001407637.1:c.1273del NP_001394566.1:p.Ser425fs frameshift NM_001407638.1:c.1273del NP_001394567.1:p.Ser425fs frameshift NM_001407639.1:c.1276del NP_001394568.1:p.Ser426fs frameshift NM_001407640.1:c.1276del NP_001394569.1:p.Ser426fs frameshift NM_001407641.1:c.1276del NP_001394570.1:p.Ser426fs frameshift NM_001407642.1:c.1276del NP_001394571.1:p.Ser426fs frameshift NM_001407644.1:c.1273del NP_001394573.1:p.Ser425fs frameshift NM_001407645.1:c.1273del NP_001394574.1:p.Ser425fs frameshift NM_001407646.1:c.1267del NP_001394575.1:p.Ser423fs frameshift NM_001407647.1:c.1267del NP_001394576.1:p.Ser423fs frameshift NM_001407648.1:c.1153del NP_001394577.1:p.Ser385fs frameshift NM_001407649.1:c.1150del NP_001394578.1:p.Ser384fs frameshift NM_001407652.1:c.1276del NP_001394581.1:p.Ser426fs frameshift NM_001407653.1:c.1198del NP_001394582.1:p.Ser400fs frameshift NM_001407654.1:c.1198del NP_001394583.1:p.Ser400fs frameshift NM_001407655.1:c.1198del NP_001394584.1:p.Ser400fs frameshift NM_001407656.1:c.1198del NP_001394585.1:p.Ser400fs frameshift NM_001407657.1:c.1198del NP_001394586.1:p.Ser400fs frameshift NM_001407658.1:c.1198del NP_001394587.1:p.Ser400fs frameshift NM_001407659.1:c.1195del NP_001394588.1:p.Ser399fs frameshift NM_001407660.1:c.1195del NP_001394589.1:p.Ser399fs frameshift NM_001407661.1:c.1195del NP_001394590.1:p.Ser399fs frameshift NM_001407662.1:c.1195del NP_001394591.1:p.Ser399fs frameshift NM_001407663.1:c.1198del NP_001394592.1:p.Ser400fs frameshift NM_001407664.1:c.1153del NP_001394593.1:p.Ser385fs frameshift NM_001407665.1:c.1153del NP_001394594.1:p.Ser385fs frameshift NM_001407666.1:c.1153del NP_001394595.1:p.Ser385fs frameshift NM_001407667.1:c.1153del NP_001394596.1:p.Ser385fs frameshift NM_001407668.1:c.1153del NP_001394597.1:p.Ser385fs frameshift NM_001407669.1:c.1153del NP_001394598.1:p.Ser385fs frameshift NM_001407670.1:c.1150del NP_001394599.1:p.Ser384fs frameshift NM_001407671.1:c.1150del NP_001394600.1:p.Ser384fs frameshift NM_001407672.1:c.1150del NP_001394601.1:p.Ser384fs frameshift NM_001407673.1:c.1150del NP_001394602.1:p.Ser384fs frameshift NM_001407674.1:c.1153del NP_001394603.1:p.Ser385fs frameshift NM_001407675.1:c.1153del NP_001394604.1:p.Ser385fs frameshift NM_001407676.1:c.1153del NP_001394605.1:p.Ser385fs frameshift NM_001407677.1:c.1153del NP_001394606.1:p.Ser385fs frameshift NM_001407678.1:c.1153del NP_001394607.1:p.Ser385fs frameshift NM_001407679.1:c.1153del NP_001394608.1:p.Ser385fs frameshift NM_001407680.1:c.1153del NP_001394609.1:p.Ser385fs frameshift NM_001407681.1:c.1153del NP_001394610.1:p.Ser385fs frameshift NM_001407682.1:c.1153del NP_001394611.1:p.Ser385fs frameshift NM_001407683.1:c.1153del NP_001394612.1:p.Ser385fs frameshift NM_001407684.1:c.1276del NP_001394613.1:p.Ser426fs frameshift NM_001407685.1:c.1150del NP_001394614.1:p.Ser384fs frameshift NM_001407686.1:c.1150del NP_001394615.1:p.Ser384fs frameshift NM_001407687.1:c.1150del NP_001394616.1:p.Ser384fs frameshift NM_001407688.1:c.1150del NP_001394617.1:p.Ser384fs frameshift NM_001407689.1:c.1150del NP_001394618.1:p.Ser384fs frameshift NM_001407690.1:c.1150del NP_001394619.1:p.Ser384fs frameshift NM_001407691.1:c.1150del NP_001394620.1:p.Ser384fs frameshift NM_001407692.1:c.1135del NP_001394621.1:p.Ser379fs frameshift NM_001407694.1:c.1135del NP_001394623.1:p.Ser379fs frameshift NM_001407695.1:c.1135del NP_001394624.1:p.Ser379fs frameshift NM_001407696.1:c.1135del NP_001394625.1:p.Ser379fs frameshift NM_001407697.1:c.1135del NP_001394626.1:p.Ser379fs frameshift NM_001407698.1:c.1135del NP_001394627.1:p.Ser379fs frameshift NM_001407724.1:c.1135del NP_001394653.1:p.Ser379fs frameshift NM_001407725.1:c.1135del NP_001394654.1:p.Ser379fs frameshift NM_001407726.1:c.1135del NP_001394655.1:p.Ser379fs frameshift NM_001407727.1:c.1135del NP_001394656.1:p.Ser379fs frameshift NM_001407728.1:c.1135del NP_001394657.1:p.Ser379fs frameshift NM_001407729.1:c.1135del NP_001394658.1:p.Ser379fs frameshift NM_001407730.1:c.1135del NP_001394659.1:p.Ser379fs frameshift NM_001407731.1:c.1135del NP_001394660.1:p.Ser379fs frameshift NM_001407732.1:c.1135del NP_001394661.1:p.Ser379fs frameshift NM_001407733.1:c.1135del NP_001394662.1:p.Ser379fs frameshift NM_001407734.1:c.1135del NP_001394663.1:p.Ser379fs frameshift NM_001407735.1:c.1135del NP_001394664.1:p.Ser379fs frameshift NM_001407736.1:c.1135del NP_001394665.1:p.Ser379fs frameshift NM_001407737.1:c.1135del NP_001394666.1:p.Ser379fs frameshift NM_001407738.1:c.1135del NP_001394667.1:p.Ser379fs frameshift NM_001407739.1:c.1135del NP_001394668.1:p.Ser379fs frameshift NM_001407740.1:c.1132del NP_001394669.1:p.Ser378fs frameshift NM_001407741.1:c.1132del NP_001394670.1:p.Ser378fs frameshift NM_001407742.1:c.1132del NP_001394671.1:p.Ser378fs frameshift NM_001407743.1:c.1132del NP_001394672.1:p.Ser378fs frameshift NM_001407744.1:c.1132del NP_001394673.1:p.Ser378fs frameshift NM_001407745.1:c.1132del NP_001394674.1:p.Ser378fs frameshift NM_001407746.1:c.1132del NP_001394675.1:p.Ser378fs frameshift NM_001407747.1:c.1132del NP_001394676.1:p.Ser378fs frameshift NM_001407748.1:c.1132del NP_001394677.1:p.Ser378fs frameshift NM_001407749.1:c.1132del NP_001394678.1:p.Ser378fs frameshift NM_001407750.1:c.1135del NP_001394679.1:p.Ser379fs frameshift NM_001407751.1:c.1135del NP_001394680.1:p.Ser379fs frameshift NM_001407752.1:c.1135del NP_001394681.1:p.Ser379fs frameshift NM_001407838.1:c.1132del NP_001394767.1:p.Ser378fs frameshift NM_001407839.1:c.1132del NP_001394768.1:p.Ser378fs frameshift NM_001407841.1:c.1132del NP_001394770.1:p.Ser378fs frameshift NM_001407842.1:c.1132del NP_001394771.1:p.Ser378fs frameshift NM_001407843.1:c.1132del NP_001394772.1:p.Ser378fs frameshift NM_001407844.1:c.1132del NP_001394773.1:p.Ser378fs frameshift NM_001407845.1:c.1132del NP_001394774.1:p.Ser378fs frameshift NM_001407846.1:c.1132del NP_001394775.1:p.Ser378fs frameshift NM_001407847.1:c.1132del NP_001394776.1:p.Ser378fs frameshift NM_001407848.1:c.1132del NP_001394777.1:p.Ser378fs frameshift NM_001407849.1:c.1132del NP_001394778.1:p.Ser378fs frameshift NM_001407850.1:c.1135del NP_001394779.1:p.Ser379fs frameshift NM_001407851.1:c.1135del NP_001394780.1:p.Ser379fs frameshift NM_001407852.1:c.1135del NP_001394781.1:p.Ser379fs frameshift NM_001407853.1:c.1063del NP_001394782.1:p.Ser355fs frameshift NM_001407854.1:c.1276del NP_001394783.1:p.Ser426fs frameshift NM_001407858.1:c.1276del NP_001394787.1:p.Ser426fs frameshift NM_001407859.1:c.1276del NP_001394788.1:p.Ser426fs frameshift NM_001407860.1:c.1273del NP_001394789.1:p.Ser425fs frameshift NM_001407861.1:c.1273del NP_001394790.1:p.Ser425fs frameshift NM_001407862.1:c.1075del NP_001394791.1:p.Ser359fs frameshift NM_001407863.1:c.1153del NP_001394792.1:p.Ser385fs frameshift NM_001407874.1:c.1072del NP_001394803.1:p.Ser358fs frameshift NM_001407875.1:c.1072del NP_001394804.1:p.Ser358fs frameshift NM_001407879.1:c.1066del NP_001394808.1:p.Ser356fs frameshift NM_001407881.1:c.1066del NP_001394810.1:p.Ser356fs frameshift NM_001407882.1:c.1066del NP_001394811.1:p.Ser356fs frameshift NM_001407884.1:c.1066del NP_001394813.1:p.Ser356fs frameshift NM_001407885.1:c.1066del NP_001394814.1:p.Ser356fs frameshift NM_001407886.1:c.1066del NP_001394815.1:p.Ser356fs frameshift NM_001407887.1:c.1066del NP_001394816.1:p.Ser356fs frameshift NM_001407889.1:c.1066del NP_001394818.1:p.Ser356fs frameshift NM_001407894.1:c.1063del NP_001394823.1:p.Ser355fs frameshift NM_001407895.1:c.1063del NP_001394824.1:p.Ser355fs frameshift NM_001407896.1:c.1063del NP_001394825.1:p.Ser355fs frameshift NM_001407897.1:c.1063del NP_001394826.1:p.Ser355fs frameshift NM_001407898.1:c.1063del NP_001394827.1:p.Ser355fs frameshift NM_001407899.1:c.1063del NP_001394828.1:p.Ser355fs frameshift NM_001407900.1:c.1066del NP_001394829.1:p.Ser356fs frameshift NM_001407902.1:c.1066del NP_001394831.1:p.Ser356fs frameshift NM_001407904.1:c.1066del NP_001394833.1:p.Ser356fs frameshift NM_001407906.1:c.1066del NP_001394835.1:p.Ser356fs frameshift NM_001407907.1:c.1066del NP_001394836.1:p.Ser356fs frameshift NM_001407908.1:c.1066del NP_001394837.1:p.Ser356fs frameshift NM_001407909.1:c.1066del NP_001394838.1:p.Ser356fs frameshift NM_001407910.1:c.1066del NP_001394839.1:p.Ser356fs frameshift NM_001407915.1:c.1063del NP_001394844.1:p.Ser355fs frameshift NM_001407916.1:c.1063del NP_001394845.1:p.Ser355fs frameshift NM_001407917.1:c.1063del NP_001394846.1:p.Ser355fs frameshift NM_001407918.1:c.1063del NP_001394847.1:p.Ser355fs frameshift NM_001407919.1:c.1153del NP_001394848.1:p.Ser385fs frameshift NM_001407920.1:c.1012del NP_001394849.1:p.Ser338fs frameshift NM_001407921.1:c.1012del NP_001394850.1:p.Ser338fs frameshift NM_001407922.1:c.1012del NP_001394851.1:p.Ser338fs frameshift NM_001407923.1:c.1012del NP_001394852.1:p.Ser338fs frameshift NM_001407924.1:c.1012del NP_001394853.1:p.Ser338fs frameshift NM_001407925.1:c.1012del NP_001394854.1:p.Ser338fs frameshift NM_001407926.1:c.1012del NP_001394855.1:p.Ser338fs frameshift NM_001407927.1:c.1012del NP_001394856.1:p.Ser338fs frameshift NM_001407928.1:c.1012del NP_001394857.1:p.Ser338fs frameshift NM_001407929.1:c.1012del NP_001394858.1:p.Ser338fs frameshift NM_001407930.1:c.1009del NP_001394859.1:p.Ser337fs frameshift NM_001407931.1:c.1009del NP_001394860.1:p.Ser337fs frameshift NM_001407932.1:c.1009del NP_001394861.1:p.Ser337fs frameshift NM_001407933.1:c.1012del NP_001394862.1:p.Ser338fs frameshift NM_001407934.1:c.1009del NP_001394863.1:p.Ser337fs frameshift NM_001407935.1:c.1012del NP_001394864.1:p.Ser338fs frameshift NM_001407936.1:c.1009del NP_001394865.1:p.Ser337fs frameshift NM_001407937.1:c.1153del NP_001394866.1:p.Ser385fs frameshift NM_001407938.1:c.1153del NP_001394867.1:p.Ser385fs frameshift NM_001407939.1:c.1153del NP_001394868.1:p.Ser385fs frameshift NM_001407940.1:c.1150del NP_001394869.1:p.Ser384fs frameshift NM_001407941.1:c.1150del NP_001394870.1:p.Ser384fs frameshift NM_001407942.1:c.1135del NP_001394871.1:p.Ser379fs frameshift NM_001407943.1:c.1132del NP_001394872.1:p.Ser378fs frameshift NM_001407944.1:c.1135del NP_001394873.1:p.Ser379fs frameshift NM_001407945.1:c.1135del NP_001394874.1:p.Ser379fs frameshift NM_001407946.1:c.943del NP_001394875.1:p.Ser315fs frameshift NM_001407947.1:c.943del NP_001394876.1:p.Ser315fs frameshift NM_001407948.1:c.943del NP_001394877.1:p.Ser315fs frameshift NM_001407949.1:c.943del NP_001394878.1:p.Ser315fs frameshift NM_001407950.1:c.943del NP_001394879.1:p.Ser315fs frameshift NM_001407951.1:c.943del NP_001394880.1:p.Ser315fs frameshift NM_001407952.1:c.943del NP_001394881.1:p.Ser315fs frameshift NM_001407953.1:c.943del NP_001394882.1:p.Ser315fs frameshift NM_001407954.1:c.940del NP_001394883.1:p.Ser314fs frameshift NM_001407955.1:c.940del NP_001394884.1:p.Ser314fs frameshift NM_001407956.1:c.940del NP_001394885.1:p.Ser314fs frameshift NM_001407957.1:c.943del NP_001394886.1:p.Ser315fs frameshift NM_001407958.1:c.940del NP_001394887.1:p.Ser314fs frameshift NM_001407959.1:c.895del NP_001394888.1:p.Ser299fs frameshift NM_001407960.1:c.895del NP_001394889.1:p.Ser299fs frameshift NM_001407962.1:c.892del NP_001394891.1:p.Ser298fs frameshift NM_001407963.1:c.895del NP_001394892.1:p.Ser299fs frameshift NM_001407964.1:c.1132del NP_001394893.1:p.Ser378fs frameshift NM_001407965.1:c.772del NP_001394894.1:p.Ser258fs frameshift NM_001407966.1:c.388del NP_001394895.1:p.Ser130fs frameshift NM_001407967.1:c.388del NP_001394896.1:p.Ser130fs frameshift NM_001407968.1:c.787+489del intron variant NM_001407969.1:c.787+489del intron variant NM_001407970.1:c.787+489del intron variant NM_001407971.1:c.787+489del intron variant NM_001407972.1:c.784+489del intron variant NM_001407973.1:c.787+489del intron variant NM_001407974.1:c.787+489del intron variant NM_001407975.1:c.787+489del intron variant NM_001407976.1:c.787+489del intron variant NM_001407977.1:c.787+489del intron variant NM_001407978.1:c.787+489del intron variant NM_001407979.1:c.787+489del intron variant NM_001407980.1:c.787+489del intron variant NM_001407981.1:c.787+489del intron variant NM_001407982.1:c.787+489del intron variant NM_001407983.1:c.787+489del intron variant NM_001407984.1:c.784+489del intron variant NM_001407985.1:c.784+489del intron variant NM_001407986.1:c.784+489del intron variant NM_001407990.1:c.787+489del intron variant NM_001407991.1:c.784+489del intron variant NM_001407992.1:c.784+489del intron variant NM_001407993.1:c.787+489del intron variant NM_001408392.1:c.784+489del intron variant NM_001408396.1:c.784+489del intron variant NM_001408397.1:c.784+489del intron variant NM_001408398.1:c.784+489del intron variant NM_001408399.1:c.784+489del intron variant NM_001408400.1:c.784+489del intron variant NM_001408401.1:c.784+489del intron variant NM_001408402.1:c.784+489del intron variant NM_001408403.1:c.787+489del intron variant NM_001408404.1:c.787+489del intron variant NM_001408406.1:c.790+486del intron variant NM_001408407.1:c.784+489del intron variant NM_001408408.1:c.778+489del intron variant NM_001408409.1:c.709+489del intron variant NM_001408410.1:c.646+489del intron variant NM_001408411.1:c.709+489del intron variant NM_001408412.1:c.709+489del intron variant NM_001408413.1:c.706+489del intron variant NM_001408414.1:c.709+489del intron variant NM_001408415.1:c.709+489del intron variant NM_001408416.1:c.706+489del intron variant NM_001408418.1:c.670+1591del intron variant NM_001408419.1:c.670+1591del intron variant NM_001408420.1:c.670+1591del intron variant NM_001408421.1:c.667+1591del intron variant NM_001408422.1:c.670+1591del intron variant NM_001408423.1:c.670+1591del intron variant NM_001408424.1:c.667+1591del intron variant NM_001408425.1:c.664+489del intron variant NM_001408426.1:c.664+489del intron variant NM_001408427.1:c.664+489del intron variant NM_001408428.1:c.664+489del intron variant NM_001408429.1:c.664+489del intron variant NM_001408430.1:c.664+489del intron variant NM_001408431.1:c.667+1591del intron variant NM_001408432.1:c.661+489del intron variant NM_001408433.1:c.661+489del intron variant NM_001408434.1:c.661+489del intron variant NM_001408435.1:c.661+489del intron variant NM_001408436.1:c.664+489del intron variant NM_001408437.1:c.664+489del intron variant NM_001408438.1:c.664+489del intron variant NM_001408439.1:c.664+489del intron variant NM_001408440.1:c.664+489del intron variant NM_001408441.1:c.664+489del intron variant NM_001408442.1:c.664+489del intron variant NM_001408443.1:c.664+489del intron variant NM_001408444.1:c.664+489del intron variant NM_001408445.1:c.661+489del intron variant NM_001408446.1:c.661+489del intron variant NM_001408447.1:c.661+489del intron variant NM_001408448.1:c.661+489del intron variant NM_001408450.1:c.661+489del intron variant NM_001408451.1:c.652+489del intron variant NM_001408452.1:c.646+489del intron variant NM_001408453.1:c.646+489del intron variant NM_001408454.1:c.646+489del intron variant NM_001408455.1:c.646+489del intron variant NM_001408456.1:c.646+489del intron variant NM_001408457.1:c.646+489del intron variant NM_001408458.1:c.646+489del intron variant NM_001408459.1:c.646+489del intron variant NM_001408460.1:c.646+489del intron variant NM_001408461.1:c.646+489del intron variant NM_001408462.1:c.643+489del intron variant NM_001408463.1:c.643+489del intron variant NM_001408464.1:c.643+489del intron variant NM_001408465.1:c.643+489del intron variant NM_001408466.1:c.646+489del intron variant NM_001408467.1:c.646+489del intron variant NM_001408468.1:c.643+489del intron variant NM_001408469.1:c.646+489del intron variant NM_001408470.1:c.643+489del intron variant NM_001408472.1:c.787+489del intron variant NM_001408473.1:c.784+489del intron variant NM_001408474.1:c.586+489del intron variant NM_001408475.1:c.583+489del intron variant NM_001408476.1:c.586+489del intron variant NM_001408478.1:c.577+489del intron variant NM_001408479.1:c.577+489del intron variant NM_001408480.1:c.577+489del intron variant NM_001408481.1:c.577+489del intron variant NM_001408482.1:c.577+489del intron variant NM_001408483.1:c.577+489del intron variant NM_001408484.1:c.577+489del intron variant NM_001408485.1:c.577+489del intron variant NM_001408489.1:c.577+489del intron variant NM_001408490.1:c.574+489del intron variant NM_001408491.1:c.574+489del intron variant NM_001408492.1:c.577+489del intron variant NM_001408493.1:c.574+489del intron variant NM_001408494.1:c.548-3223del intron variant NM_001408495.1:c.545-3223del intron variant NM_001408496.1:c.523+489del intron variant NM_001408497.1:c.523+489del intron variant NM_001408498.1:c.523+489del intron variant NM_001408499.1:c.523+489del intron variant NM_001408500.1:c.523+489del intron variant NM_001408501.1:c.523+489del intron variant NM_001408502.1:c.454+489del intron variant NM_001408503.1:c.520+489del intron variant NM_001408504.1:c.520+489del intron variant NM_001408505.1:c.520+489del intron variant NM_001408506.1:c.460+1591del intron variant NM_001408507.1:c.460+1591del intron variant NM_001408508.1:c.451+489del intron variant NM_001408509.1:c.451+489del intron variant NM_001408510.1:c.406+489del intron variant NM_001408511.1:c.404-3223del intron variant NM_001408512.1:c.283+489del intron variant NM_001408513.1:c.577+489del intron variant NM_001408514.1:c.577+489del intron variant NM_007294.3:c.1276delT frameshift NM_007297.4:c.1135del NP_009228.2:p.Ser379fs frameshift NM_007298.4:c.787+489del intron variant NM_007299.4:c.787+489del intron variant NM_007300.4:c.1276del NP_009231.2:p.Ser426fs frameshift NR_027676.1:n.1411delT NC_000017.11:g.43094256del NC_000017.10:g.41246273del NG_005905.2:g.123729del LRG_292:g.123729del LRG_292t1:c.1275del LRG_292p1:p.Ser426Glnfs U14680.1:n.1395delT - Protein change
- S379fs, S426fs, S299fs, S314fs, S358fs, S384fs, S356fs, S359fs, S385fs, S399fs, S423fs, S258fs, S337fs, S355fs, S378fs, S400fs, S130fs, S298fs, S315fs, S338fs, S425fs
- Other names
- 1395delT
- Canonical SPDI
- NC_000017.11:43094254:AA:A
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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 |
12795 | 14565 |
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 (2) |
reviewed by expert panel
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Sep 8, 2016 | RCV000111580.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 9, 2016 | RCV000509869.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 08, 2016)
|
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: SCV000299570.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Dec 09, 2016)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000607950.4
First in ClinVar: Oct 23, 2017 Last updated: Nov 29, 2022 |
Comment:
The c.1276delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1276, causing … (more)
The c.1276delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1276, causing a translational frameshift with a predicted alternate stop codon (p.S426Qfs*4). 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)
Number of individuals with the variant: 1
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Pathogenic
(Nov 14, 1997)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144048.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
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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 rs80357766 ...
HelpRecord last updated Mar 30, 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.