ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.143del (p.Met48fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.143del (p.Met48fs)
Variation ID: 37412 Accession: VCV000037412.33
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43106525 (GRCh38) [ NCBI UCSC ] 17: 41258542 (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 May 1, 2024 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.143del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Met48fs frameshift NM_001407571.1:c.-46delT NM_001407581.1:c.143delT NP_001394510.1:p.Met48Serfs frameshift NM_001407582.1:c.143delT NP_001394511.1:p.Met48Serfs frameshift NM_001407583.1:c.143delT NP_001394512.1:p.Met48Serfs frameshift NM_001407585.1:c.143delT NP_001394514.1:p.Met48Serfs frameshift NM_001407587.1:c.143delT NP_001394516.1:p.Met48Serfs frameshift NM_001407590.1:c.143delT NP_001394519.1:p.Met48Serfs frameshift NM_001407591.1:c.143delT NP_001394520.1:p.Met48Serfs frameshift NM_001407593.1:c.143delT NP_001394522.1:p.Met48Serfs frameshift NM_001407594.1:c.143delT NP_001394523.1:p.Met48Serfs frameshift NM_001407596.1:c.143delT NP_001394525.1:p.Met48Serfs frameshift NM_001407597.1:c.143delT NP_001394526.1:p.Met48Serfs frameshift NM_001407598.1:c.143delT NP_001394527.1:p.Met48Serfs frameshift NM_001407602.1:c.143delT NP_001394531.1:p.Met48Serfs frameshift NM_001407603.1:c.143delT NP_001394532.1:p.Met48Serfs frameshift NM_001407605.1:c.143delT NP_001394534.1:p.Met48Serfs frameshift NM_001407610.1:c.143delT NP_001394539.1:p.Met48Serfs frameshift NM_001407611.1:c.143delT NP_001394540.1:p.Met48Serfs frameshift NM_001407612.1:c.143delT NP_001394541.1:p.Met48Serfs frameshift NM_001407613.1:c.143delT NP_001394542.1:p.Met48Serfs frameshift NM_001407614.1:c.143delT NP_001394543.1:p.Met48Serfs frameshift NM_001407615.1:c.143delT NP_001394544.1:p.Met48Serfs frameshift NM_001407616.1:c.143delT NP_001394545.1:p.Met48Serfs frameshift NM_001407617.1:c.143delT NP_001394546.1:p.Met48Serfs frameshift NM_001407618.1:c.143delT NP_001394547.1:p.Met48Serfs frameshift NM_001407619.1:c.143delT NP_001394548.1:p.Met48Serfs frameshift NM_001407620.1:c.143delT NP_001394549.1:p.Met48Serfs frameshift NM_001407621.1:c.143delT NP_001394550.1:p.Met48Serfs frameshift NM_001407622.1:c.143delT NP_001394551.1:p.Met48Serfs frameshift NM_001407623.1:c.143delT NP_001394552.1:p.Met48Serfs frameshift NM_001407624.1:c.143delT NP_001394553.1:p.Met48Serfs frameshift NM_001407625.1:c.143delT NP_001394554.1:p.Met48Serfs frameshift NM_001407626.1:c.143delT NP_001394555.1:p.Met48Serfs frameshift NM_001407627.1:c.143delT NP_001394556.1:p.Met48Serfs frameshift NM_001407628.1:c.143delT NP_001394557.1:p.Met48Serfs frameshift NM_001407629.1:c.143delT NP_001394558.1:p.Met48Serfs frameshift NM_001407630.1:c.143delT NP_001394559.1:p.Met48Serfs frameshift NM_001407631.1:c.143delT NP_001394560.1:p.Met48Serfs frameshift NM_001407632.1:c.143delT NP_001394561.1:p.Met48Serfs frameshift NM_001407633.1:c.143delT NP_001394562.1:p.Met48Serfs frameshift NM_001407634.1:c.143delT NP_001394563.1:p.Met48Serfs frameshift NM_001407635.1:c.143delT NP_001394564.1:p.Met48Serfs frameshift NM_001407636.1:c.143delT NP_001394565.1:p.Met48Serfs frameshift NM_001407637.1:c.143delT NP_001394566.1:p.Met48Serfs frameshift NM_001407638.1:c.143delT NP_001394567.1:p.Met48Serfs frameshift NM_001407639.1:c.143delT NP_001394568.1:p.Met48Serfs frameshift NM_001407640.1:c.143delT NP_001394569.1:p.Met48Serfs frameshift NM_001407641.1:c.143delT NP_001394570.1:p.Met48Serfs frameshift NM_001407642.1:c.143delT NP_001394571.1:p.Met48Serfs frameshift NM_001407644.1:c.143delT NP_001394573.1:p.Met48Serfs frameshift NM_001407645.1:c.143delT NP_001394574.1:p.Met48Serfs frameshift NM_001407646.1:c.143delT NP_001394575.1:p.Met48Serfs frameshift NM_001407647.1:c.143delT NP_001394576.1:p.Met48Serfs frameshift NM_001407648.1:c.143delT NP_001394577.1:p.Met48Serfs frameshift NM_001407649.1:c.143delT NP_001394578.1:p.Met48Serfs frameshift NM_001407652.1:c.143delT NP_001394581.1:p.Met48Serfs frameshift NM_001407664.1:c.143delT NP_001394593.1:p.Met48Serfs frameshift NM_001407665.1:c.143delT NP_001394594.1:p.Met48Serfs frameshift NM_001407666.1:c.143delT NP_001394595.1:p.Met48Serfs frameshift NM_001407667.1:c.143delT NP_001394596.1:p.Met48Serfs frameshift NM_001407668.1:c.143delT NP_001394597.1:p.Met48Serfs frameshift NM_001407669.1:c.143delT NP_001394598.1:p.Met48Serfs frameshift NM_001407670.1:c.143delT NP_001394599.1:p.Met48Serfs frameshift NM_001407671.1:c.143delT NP_001394600.1:p.Met48Serfs frameshift NM_001407672.1:c.143delT NP_001394601.1:p.Met48Serfs frameshift NM_001407673.1:c.143delT NP_001394602.1:p.Met48Serfs frameshift NM_001407674.1:c.143delT NP_001394603.1:p.Met48Serfs frameshift NM_001407675.1:c.143delT NP_001394604.1:p.Met48Serfs frameshift NM_001407676.1:c.143delT NP_001394605.1:p.Met48Serfs frameshift NM_001407677.1:c.143delT NP_001394606.1:p.Met48Serfs frameshift NM_001407678.1:c.143delT NP_001394607.1:p.Met48Serfs frameshift NM_001407679.1:c.143delT NP_001394608.1:p.Met48Serfs frameshift NM_001407680.1:c.143delT NP_001394609.1:p.Met48Serfs frameshift NM_001407681.1:c.143delT NP_001394610.1:p.Met48Serfs frameshift NM_001407682.1:c.143delT NP_001394611.1:p.Met48Serfs frameshift NM_001407683.1:c.143delT NP_001394612.1:p.Met48Serfs frameshift NM_001407684.1:c.143delT NP_001394613.1:p.Met48Serfs frameshift NM_001407685.1:c.143delT NP_001394614.1:p.Met48Serfs frameshift NM_001407686.1:c.143delT NP_001394615.1:p.Met48Serfs frameshift NM_001407687.1:c.143delT NP_001394616.1:p.Met48Serfs frameshift NM_001407688.1:c.143delT NP_001394617.1:p.Met48Serfs frameshift NM_001407689.1:c.143delT NP_001394618.1:p.Met48Serfs frameshift NM_001407690.1:c.143delT NP_001394619.1:p.Met48Serfs frameshift NM_001407691.1:c.143delT NP_001394620.1:p.Met48Serfs frameshift NM_001407692.1:c.2delT NP_001394621.1:p.Met1Serfs frameshift NM_001407694.1:c.2delT NP_001394623.1:p.Met1Serfs frameshift NM_001407695.1:c.2delT NP_001394624.1:p.Met1Serfs frameshift NM_001407696.1:c.2delT NP_001394625.1:p.Met1Serfs frameshift NM_001407697.1:c.2delT NP_001394626.1:p.Met1Serfs frameshift NM_001407698.1:c.2delT NP_001394627.1:p.Met1Serfs frameshift NM_001407724.1:c.2delT NP_001394653.1:p.Met1Serfs frameshift NM_001407725.1:c.2delT NP_001394654.1:p.Met1Serfs frameshift NM_001407726.1:c.2delT NP_001394655.1:p.Met1Serfs frameshift NM_001407727.1:c.2delT NP_001394656.1:p.Met1Serfs frameshift NM_001407728.1:c.2delT NP_001394657.1:p.Met1Serfs frameshift NM_001407729.1:c.2delT NP_001394658.1:p.Met1Serfs frameshift NM_001407730.1:c.2delT NP_001394659.1:p.Met1Serfs frameshift NM_001407731.1:c.2delT NP_001394660.1:p.Met1Serfs frameshift NM_001407732.1:c.2delT NP_001394661.1:p.Met1Serfs frameshift NM_001407733.1:c.2delT NP_001394662.1:p.Met1Serfs frameshift NM_001407734.1:c.2delT NP_001394663.1:p.Met1Serfs frameshift NM_001407735.1:c.2delT NP_001394664.1:p.Met1Serfs frameshift NM_001407736.1:c.2delT NP_001394665.1:p.Met1Serfs frameshift NM_001407737.1:c.2delT NP_001394666.1:p.Met1Serfs frameshift NM_001407738.1:c.2delT NP_001394667.1:p.Met1Serfs frameshift NM_001407739.1:c.2delT NP_001394668.1:p.Met1Serfs frameshift NM_001407740.1:c.2delT NP_001394669.1:p.Met1Serfs frameshift NM_001407741.1:c.2delT NP_001394670.1:p.Met1Serfs frameshift NM_001407742.1:c.2delT NP_001394671.1:p.Met1Serfs frameshift NM_001407743.1:c.2delT NP_001394672.1:p.Met1Serfs frameshift NM_001407744.1:c.2delT NP_001394673.1:p.Met1Serfs frameshift NM_001407745.1:c.2delT NP_001394674.1:p.Met1Serfs frameshift NM_001407746.1:c.2delT NP_001394675.1:p.Met1Serfs frameshift NM_001407747.1:c.2delT NP_001394676.1:p.Met1Serfs frameshift NM_001407748.1:c.2delT NP_001394677.1:p.Met1Serfs frameshift NM_001407749.1:c.2delT NP_001394678.1:p.Met1Serfs frameshift NM_001407750.1:c.2delT NP_001394679.1:p.Met1Serfs frameshift NM_001407751.1:c.2delT NP_001394680.1:p.Met1Serfs frameshift NM_001407752.1:c.2delT NP_001394681.1:p.Met1Serfs frameshift NM_001407838.1:c.2delT NP_001394767.1:p.Met1Serfs frameshift NM_001407839.1:c.2delT NP_001394768.1:p.Met1Serfs frameshift NM_001407841.1:c.2delT NP_001394770.1:p.Met1Serfs frameshift NM_001407842.1:c.2delT NP_001394771.1:p.Met1Serfs frameshift NM_001407843.1:c.2delT NP_001394772.1:p.Met1Serfs frameshift NM_001407844.1:c.2delT NP_001394773.1:p.Met1Serfs frameshift NM_001407845.1:c.2delT NP_001394774.1:p.Met1Serfs frameshift NM_001407846.1:c.2delT NP_001394775.1:p.Met1Serfs frameshift NM_001407847.1:c.2delT NP_001394776.1:p.Met1Serfs frameshift NM_001407848.1:c.2delT NP_001394777.1:p.Met1Serfs frameshift NM_001407849.1:c.2delT NP_001394778.1:p.Met1Serfs frameshift NM_001407850.1:c.2delT NP_001394779.1:p.Met1Serfs frameshift NM_001407851.1:c.2delT NP_001394780.1:p.Met1Serfs frameshift NM_001407852.1:c.2delT NP_001394781.1:p.Met1Serfs frameshift NM_001407853.1:c.-46delT NM_001407854.1:c.143delT NP_001394783.1:p.Met48Serfs frameshift NM_001407858.1:c.143delT NP_001394787.1:p.Met48Serfs frameshift NM_001407859.1:c.143delT NP_001394788.1:p.Met48Serfs frameshift NM_001407860.1:c.143delT NP_001394789.1:p.Met48Serfs frameshift NM_001407861.1:c.143delT NP_001394790.1:p.Met48Serfs frameshift NM_001407863.1:c.143delT NP_001394792.1:p.Met48Serfs frameshift NM_001407879.1:c.-46delT NM_001407881.1:c.-46delT NM_001407882.1:c.-46delT NM_001407884.1:c.-46delT NM_001407885.1:c.-46delT NM_001407886.1:c.-46delT NM_001407887.1:c.-46delT NM_001407889.1:c.-46delT NM_001407894.1:c.-46delT NM_001407895.1:c.-46delT NM_001407896.1:c.-46delT NM_001407897.1:c.-46delT NM_001407898.1:c.-46delT NM_001407899.1:c.-46delT NM_001407900.1:c.-46delT NM_001407902.1:c.-46delT NM_001407904.1:c.-46delT NM_001407906.1:c.-46delT NM_001407907.1:c.-46delT NM_001407908.1:c.-46delT NM_001407909.1:c.-46delT NM_001407910.1:c.-46delT NM_001407915.1:c.-46delT NM_001407916.1:c.-46delT NM_001407917.1:c.-46delT NM_001407918.1:c.-46delT NM_001407919.1:c.143delT NP_001394848.1:p.Met48Serfs frameshift NM_001407920.1:c.2delT NP_001394849.1:p.Met1Serfs frameshift NM_001407921.1:c.2delT NP_001394850.1:p.Met1Serfs frameshift NM_001407922.1:c.2delT NP_001394851.1:p.Met1Serfs frameshift NM_001407923.1:c.2delT NP_001394852.1:p.Met1Serfs frameshift NM_001407924.1:c.2delT NP_001394853.1:p.Met1Serfs frameshift NM_001407925.1:c.2delT NP_001394854.1:p.Met1Serfs frameshift NM_001407926.1:c.2delT NP_001394855.1:p.Met1Serfs frameshift NM_001407927.1:c.2delT NP_001394856.1:p.Met1Serfs frameshift NM_001407928.1:c.2delT NP_001394857.1:p.Met1Serfs frameshift NM_001407929.1:c.2delT NP_001394858.1:p.Met1Serfs frameshift NM_001407930.1:c.2delT NP_001394859.1:p.Met1Serfs frameshift NM_001407931.1:c.2delT NP_001394860.1:p.Met1Serfs frameshift NM_001407932.1:c.2delT NP_001394861.1:p.Met1Serfs frameshift NM_001407933.1:c.2delT NP_001394862.1:p.Met1Serfs frameshift NM_001407934.1:c.2delT NP_001394863.1:p.Met1Serfs frameshift NM_001407935.1:c.2delT NP_001394864.1:p.Met1Serfs frameshift NM_001407936.1:c.2delT NP_001394865.1:p.Met1Serfs frameshift NM_001407937.1:c.143delT NP_001394866.1:p.Met48Serfs frameshift NM_001407938.1:c.143delT NP_001394867.1:p.Met48Serfs frameshift NM_001407939.1:c.143delT NP_001394868.1:p.Met48Serfs frameshift NM_001407940.1:c.143delT NP_001394869.1:p.Met48Serfs frameshift NM_001407941.1:c.143delT NP_001394870.1:p.Met48Serfs frameshift NM_001407942.1:c.2delT NP_001394871.1:p.Met1Serfs frameshift NM_001407943.1:c.2delT NP_001394872.1:p.Met1Serfs frameshift NM_001407944.1:c.2delT NP_001394873.1:p.Met1Serfs frameshift NM_001407945.1:c.2delT NP_001394874.1:p.Met1Serfs frameshift NM_001407946.1:c.-46delT NM_001407947.1:c.-46delT NM_001407948.1:c.-46delT NM_001407949.1:c.-46delT NM_001407950.1:c.-46delT NM_001407951.1:c.-46delT NM_001407952.1:c.-46delT NM_001407953.1:c.-46delT NM_001407954.1:c.-46delT NM_001407955.1:c.-46delT NM_001407956.1:c.-46delT NM_001407957.1:c.-46delT NM_001407958.1:c.-46delT NM_001407964.1:c.2delT NP_001394893.1:p.Met1Serfs frameshift NM_001407968.1:c.143delT NP_001394897.1:p.Met48Serfs frameshift NM_001407969.1:c.143delT NP_001394898.1:p.Met48Serfs frameshift NM_001407970.1:c.143delT NP_001394899.1:p.Met48Serfs frameshift NM_001407971.1:c.143delT NP_001394900.1:p.Met48Serfs frameshift NM_001407972.1:c.143delT NP_001394901.1:p.Met48Serfs frameshift NM_001407973.1:c.143delT NP_001394902.1:p.Met48Serfs frameshift NM_001407974.1:c.143delT NP_001394903.1:p.Met48Serfs frameshift NM_001407975.1:c.143delT NP_001394904.1:p.Met48Serfs frameshift NM_001407976.1:c.143delT NP_001394905.1:p.Met48Serfs frameshift NM_001407977.1:c.143delT NP_001394906.1:p.Met48Serfs frameshift NM_001407978.1:c.143delT NP_001394907.1:p.Met48Serfs frameshift NM_001407979.1:c.143delT NP_001394908.1:p.Met48Serfs frameshift NM_001407980.1:c.143delT NP_001394909.1:p.Met48Serfs frameshift NM_001407981.1:c.143delT NP_001394910.1:p.Met48Serfs frameshift NM_001407982.1:c.143delT NP_001394911.1:p.Met48Serfs frameshift NM_001407983.1:c.143delT NP_001394912.1:p.Met48Serfs frameshift NM_001407984.1:c.143delT NP_001394913.1:p.Met48Serfs frameshift NM_001407985.1:c.143delT NP_001394914.1:p.Met48Serfs frameshift NM_001407986.1:c.143delT NP_001394915.1:p.Met48Serfs frameshift NM_001407990.1:c.143delT NP_001394919.1:p.Met48Serfs frameshift NM_001407991.1:c.143delT NP_001394920.1:p.Met48Serfs frameshift NM_001407992.1:c.143delT NP_001394921.1:p.Met48Serfs frameshift NM_001407993.1:c.143delT NP_001394922.1:p.Met48Serfs frameshift NM_001408392.1:c.143delT NP_001395321.1:p.Met48Serfs frameshift NM_001408396.1:c.143delT NP_001395325.1:p.Met48Serfs frameshift NM_001408397.1:c.143delT NP_001395326.1:p.Met48Serfs frameshift NM_001408398.1:c.143delT NP_001395327.1:p.Met48Serfs frameshift NM_001408399.1:c.143delT NP_001395328.1:p.Met48Serfs frameshift NM_001408400.1:c.143delT NP_001395329.1:p.Met48Serfs frameshift NM_001408401.1:c.143delT NP_001395330.1:p.Met48Serfs frameshift NM_001408402.1:c.143delT NP_001395331.1:p.Met48Serfs frameshift NM_001408403.1:c.143delT NP_001395332.1:p.Met48Serfs frameshift NM_001408404.1:c.143delT NP_001395333.1:p.Met48Serfs frameshift NM_001408406.1:c.143delT NP_001395335.1:p.Met48Serfs frameshift NM_001408407.1:c.143delT NP_001395336.1:p.Met48Serfs frameshift NM_001408408.1:c.143delT NP_001395337.1:p.Met48Serfs frameshift NM_001408410.1:c.2delT NP_001395339.1:p.Met1Serfs frameshift NM_001408418.1:c.143delT NP_001395347.1:p.Met48Serfs frameshift NM_001408419.1:c.143delT NP_001395348.1:p.Met48Serfs frameshift NM_001408420.1:c.143delT NP_001395349.1:p.Met48Serfs frameshift NM_001408421.1:c.143delT NP_001395350.1:p.Met48Serfs frameshift NM_001408422.1:c.143delT NP_001395351.1:p.Met48Serfs frameshift NM_001408423.1:c.143delT NP_001395352.1:p.Met48Serfs frameshift NM_001408424.1:c.143delT NP_001395353.1:p.Met48Serfs frameshift NM_001408425.1:c.143delT NP_001395354.1:p.Met48Serfs frameshift NM_001408426.1:c.143delT NP_001395355.1:p.Met48Serfs frameshift NM_001408427.1:c.143delT NP_001395356.1:p.Met48Serfs frameshift NM_001408428.1:c.143delT NP_001395357.1:p.Met48Serfs frameshift NM_001408429.1:c.143delT NP_001395358.1:p.Met48Serfs frameshift NM_001408430.1:c.143delT NP_001395359.1:p.Met48Serfs frameshift NM_001408431.1:c.143delT NP_001395360.1:p.Met48Serfs frameshift NM_001408432.1:c.143delT NP_001395361.1:p.Met48Serfs frameshift NM_001408433.1:c.143delT NP_001395362.1:p.Met48Serfs frameshift NM_001408434.1:c.143delT NP_001395363.1:p.Met48Serfs frameshift NM_001408435.1:c.143delT NP_001395364.1:p.Met48Serfs frameshift NM_001408436.1:c.143delT NP_001395365.1:p.Met48Serfs frameshift NM_001408437.1:c.143delT NP_001395366.1:p.Met48Serfs frameshift NM_001408438.1:c.143delT NP_001395367.1:p.Met48Serfs frameshift NM_001408439.1:c.143delT NP_001395368.1:p.Met48Serfs frameshift NM_001408440.1:c.143delT NP_001395369.1:p.Met48Serfs frameshift NM_001408441.1:c.143delT NP_001395370.1:p.Met48Serfs frameshift NM_001408442.1:c.143delT NP_001395371.1:p.Met48Serfs frameshift NM_001408443.1:c.143delT NP_001395372.1:p.Met48Serfs frameshift NM_001408444.1:c.143delT NP_001395373.1:p.Met48Serfs frameshift NM_001408445.1:c.143delT NP_001395374.1:p.Met48Serfs frameshift NM_001408446.1:c.143delT NP_001395375.1:p.Met48Serfs frameshift NM_001408447.1:c.143delT NP_001395376.1:p.Met48Serfs frameshift NM_001408448.1:c.143delT NP_001395377.1:p.Met48Serfs frameshift NM_001408450.1:c.143delT NP_001395379.1:p.Met48Serfs frameshift NM_001408452.1:c.2delT NP_001395381.1:p.Met1Serfs frameshift NM_001408453.1:c.2delT NP_001395382.1:p.Met1Serfs frameshift NM_001408454.1:c.2delT NP_001395383.1:p.Met1Serfs frameshift NM_001408455.1:c.2delT NP_001395384.1:p.Met1Serfs frameshift NM_001408456.1:c.2delT NP_001395385.1:p.Met1Serfs frameshift NM_001408457.1:c.2delT NP_001395386.1:p.Met1Serfs frameshift NM_001408458.1:c.2delT NP_001395387.1:p.Met1Serfs frameshift NM_001408459.1:c.2delT NP_001395388.1:p.Met1Serfs frameshift NM_001408460.1:c.2delT NP_001395389.1:p.Met1Serfs frameshift NM_001408461.1:c.2delT NP_001395390.1:p.Met1Serfs frameshift NM_001408462.1:c.2delT NP_001395391.1:p.Met1Serfs frameshift NM_001408463.1:c.2delT NP_001395392.1:p.Met1Serfs frameshift NM_001408464.1:c.2delT NP_001395393.1:p.Met1Serfs frameshift NM_001408465.1:c.2delT NP_001395394.1:p.Met1Serfs frameshift NM_001408466.1:c.2delT NP_001395395.1:p.Met1Serfs frameshift NM_001408467.1:c.2delT NP_001395396.1:p.Met1Serfs frameshift NM_001408468.1:c.2delT NP_001395397.1:p.Met1Serfs frameshift NM_001408469.1:c.2delT NP_001395398.1:p.Met1Serfs frameshift NM_001408470.1:c.2delT NP_001395399.1:p.Met1Serfs frameshift NM_001408472.1:c.143delT NP_001395401.1:p.Met48Serfs frameshift NM_001408473.1:c.143delT NP_001395402.1:p.Met48Serfs frameshift NM_001408478.1:c.-46delT NM_001408479.1:c.-46delT NM_001408480.1:c.-46delT NM_001408481.1:c.-46delT NM_001408482.1:c.-46delT NM_001408483.1:c.-46delT NM_001408484.1:c.-46delT NM_001408485.1:c.-46delT NM_001408489.1:c.-46delT NM_001408490.1:c.-46delT NM_001408491.1:c.-46delT NM_001408492.1:c.-46delT NM_001408493.1:c.-46delT NM_001408494.1:c.143delT NP_001395423.1:p.Met48Serfs frameshift NM_001408495.1:c.143delT NP_001395424.1:p.Met48Serfs frameshift NM_001408496.1:c.2delT NP_001395425.1:p.Met1Serfs frameshift NM_001408497.1:c.2delT NP_001395426.1:p.Met1Serfs frameshift NM_001408498.1:c.2delT NP_001395427.1:p.Met1Serfs frameshift NM_001408499.1:c.2delT NP_001395428.1:p.Met1Serfs frameshift NM_001408500.1:c.2delT NP_001395429.1:p.Met1Serfs frameshift NM_001408501.1:c.2delT NP_001395430.1:p.Met1Serfs frameshift NM_001408502.1:c.-46delT NM_001408503.1:c.2delT NP_001395432.1:p.Met1Serfs frameshift NM_001408504.1:c.2delT NP_001395433.1:p.Met1Serfs frameshift NM_001408505.1:c.2delT NP_001395434.1:p.Met1Serfs frameshift NM_001408506.1:c.-46delT NM_001408507.1:c.-46delT NM_001408508.1:c.-46delT NM_001408509.1:c.-46delT NM_001408511.1:c.2delT NP_001395440.1:p.Met1Serfs frameshift NM_001408513.1:c.-46delT NM_001408514.1:c.-46delT NM_007297.4:c.2del NP_009228.2:p.Met1fs frameshift initiator codon variant NM_007298.4:c.143delT NP_009229.2:p.Met48Serfs frameshift NM_007299.4:c.143del NP_009230.2:p.Met48fs frameshift NM_007300.4:c.143del NP_009231.2:p.Met48fs frameshift NM_007304.2:c.143delT NP_009235.2:p.Met48Serfs frameshift NR_027676.2:n.345del non-coding transcript variant NC_000017.11:g.43106525del NC_000017.10:g.41258542del NG_005905.2:g.111459del LRG_292:g.111459del LRG_292t1:c.143del LRG_292p1:p.Met48Serfs U14680.1:n.262delT - Protein change
- M48fs, M1fs
- Other names
-
262delT
- Canonical SPDI
- NC_000017.11:43106524:A:
-
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 (5) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000030993.17 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Jan 24, 2024 | RCV000047475.25 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Mar 23, 2023 | RCV000129404.19 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
May 1, 2023 | RCV000657256.14 |
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: SCV000299413.3
First in ClinVar: Sep 24, 2016 Last updated: Sep 03, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Aug 15, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
(Autosomal dominant inheritance)
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000605747.3
First in ClinVar: Aug 05, 2017 Last updated: Sep 03, 2023 |
Comment:
The p.Met48fs variant in BRCA1 has been reported in at least 6 individuals with BRCA1-associated cancers (Foley 2015, Breast Cancer Information Core (BIC) datab ase) … (more)
The p.Met48fs variant in BRCA1 has been reported in at least 6 individuals with BRCA1-associated cancers (Foley 2015, Breast Cancer Information Core (BIC) datab ase) and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 48 and leads to a premature termination codon 2 amino acids downstream. Heterozygous loss of function of the BRCA1 gene is an established disease mecha nism in individuals with hereditary breast and ovarian cancer (HBOC). Additional ly, the p.Met48fs variant was classified as Pathogenic on September 8, 2016 by t he ClinGen-approved ENIGMA expert panel (ClinVar SCV000299413.2). In summary, th is variant meets our criteria to be classified as pathogenic for HBOC in an auto somal dominant manner. (less)
Number of individuals with the variant: 2
|
|
Pathogenic
(Dec 22, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000778986.5
First in ClinVar: Jul 09, 2018 Last updated: Sep 03, 2023 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database.; Also known as BRCA1 262delT; Observed in individuals with ovarian cancer (Dworkin et al., 2009; Carter et al., 2018); This variant is associated with the following publications: (PMID: 28152038, 16267036, 18824701, 26023681, 30787465, 31409081, 32741062, 19340607, 30322717) (less)
|
|
Pathogenic
(Mar 31, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004216976.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
Pathogenic
(May 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133487.5
First in ClinVar: Jan 04, 2020 Last updated: Jan 06, 2024 |
Comment:
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not … (more)
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with ovarian cancer (PMID: 30322717 (2018), 26023681 (2015)). The variant has also been described in a world-wide study of BRCA1 and BRCA2 mutations carriers (PMID: 29446198 (2018)). Based on the available information, this variant is classified as pathogenic. (less)
|
|
Pathogenic
(Dec 13, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918698.3
First in ClinVar: May 31, 2019 Last updated: Sep 03, 2023 |
Comment:
Variant summary: BRCA1 c.143delT (p.Met48SerfsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.143delT (p.Met48SerfsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250126 control chromosomes (gnomAD). c.143delT has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer Syndrome (examples: Judkins 2005, Spearman 2008, Foley 2014). These data indicate that the variant is associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Seven clinical diagnostic laboratories and an expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
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: SCV000325070.5
First in ClinVar: Nov 05, 2016 Last updated: Sep 03, 2023 |
|
|
Pathogenic
(Nov 22, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000911646.5
First in ClinVar: May 20, 2019 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 1 nucleotide in exon 4 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 1 nucleotide in exon 4 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with ovarian cancer (PMID: 1882470, 26023681, 30322717). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
|
Pathogenic
(Jan 24, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000075488.12
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Met48Serfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Met48Serfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ovarian cancer (PMID: 26023681). This variant is also known as 262delT. ClinVar contains an entry for this variant (Variation ID: 37412). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(Mar 23, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000184173.10
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.143delT pathogenic mutation, located in coding exon 3 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 143, causing … (more)
The c.143delT pathogenic mutation, located in coding exon 3 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 143, causing a translational frameshift with a predicted alternate stop codon (p.M48Sfs*2). This mutation has been reported in several patients with ovarian cancer (Spearman AD et al. J. Clin. Oncol., 2008 Nov;26:5393-400; Foley SB et al. EBioMedicine, 2015 Jan;2:74-81; Carter NJ et al. Gynecol. Oncol., 2018 12;151:481-488). This alteration was also reported in 2/50726 patients from an unselected population cohort from a single health system who underwent exome sequencing (Manickam K et al. JAMA Netw Open, 2018 09;1:e182140). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
|
|
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: SCV000144462.2
First in ClinVar: Apr 01, 2014 Last updated: Sep 03, 2023 |
Number of individuals with the variant: 6
Ethnicity/Population group: Western European
|
|
Pathogenic
(Aug 30, 2012)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000053585.6
First in ClinVar: Apr 04, 2013 Last updated: Sep 03, 2023 |
|
|
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: SCV000587020.2 First in ClinVar: Aug 05, 2017 Last updated: Sep 03, 2023 |
|
|
click to load more click to collapse |
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
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. | Manickam K | JAMA network open | 2018 | PMID: 30646163 |
Germline pathogenic variants identified in women with ovarian tumors. | Carter NJ | Gynecologic oncology | 2018 | PMID: 30322717 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. | Walker LC | European journal of human genetics : EJHG | 2017 | PMID: 28145423 |
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. | Foley SB | EBioMedicine | 2015 | PMID: 26023681 |
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 |
Methylation not a frequent "second hit" in tumors with germline BRCA mutations. | Dworkin AM | Familial cancer | 2009 | PMID: 19340607 |
Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. | Spearman AD | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18824701 |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
[Violent behavior among hospitalized psychiatric patients. 2. The significance of the functioning of the department and the reactions of the staff]. | Benjaminsen S | Ugeskrift for laeger | 1991 | PMID: 1882470 |
click to load more click to collapse |
Text-mined citations for rs80357637 ...
HelpRecord 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.