NM_007294.4(BRCA1):c.143del (p.Met48fs) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Mar 23, 2023
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000129404.19
Allele description [Variation Report for NM_007294.4(BRCA1):c.143del (p.Met48fs)]
NM_007294.4(BRCA1):c.143del (p.Met48fs)
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- Deletion
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.143del (p.Met48fs)
- HGVS:
- NC_000017.11:g.43106525del
- NG_005905.2:g.111459del
- NM_001407571.1:c.-46delT
- NM_001407581.1:c.143delT
- NM_001407582.1:c.143delT
- NM_001407583.1:c.143delT
- NM_001407585.1:c.143delT
- NM_001407587.1:c.143delT
- NM_001407590.1:c.143delT
- NM_001407591.1:c.143delT
- NM_001407593.1:c.143delT
- NM_001407594.1:c.143delT
- NM_001407596.1:c.143delT
- NM_001407597.1:c.143delT
- NM_001407598.1:c.143delT
- NM_001407602.1:c.143delT
- NM_001407603.1:c.143delT
- NM_001407605.1:c.143delT
- NM_001407610.1:c.143delT
- NM_001407611.1:c.143delT
- NM_001407612.1:c.143delT
- NM_001407613.1:c.143delT
- NM_001407614.1:c.143delT
- NM_001407615.1:c.143delT
- NM_001407616.1:c.143delT
- NM_001407617.1:c.143delT
- NM_001407618.1:c.143delT
- NM_001407619.1:c.143delT
- NM_001407620.1:c.143delT
- NM_001407621.1:c.143delT
- NM_001407622.1:c.143delT
- NM_001407623.1:c.143delT
- NM_001407624.1:c.143delT
- NM_001407625.1:c.143delT
- NM_001407626.1:c.143delT
- NM_001407627.1:c.143delT
- NM_001407628.1:c.143delT
- NM_001407629.1:c.143delT
- NM_001407630.1:c.143delT
- NM_001407631.1:c.143delT
- NM_001407632.1:c.143delT
- NM_001407633.1:c.143delT
- NM_001407634.1:c.143delT
- NM_001407635.1:c.143delT
- NM_001407636.1:c.143delT
- NM_001407637.1:c.143delT
- NM_001407638.1:c.143delT
- NM_001407639.1:c.143delT
- NM_001407640.1:c.143delT
- NM_001407641.1:c.143delT
- NM_001407642.1:c.143delT
- NM_001407644.1:c.143delT
- NM_001407645.1:c.143delT
- NM_001407646.1:c.143delT
- NM_001407647.1:c.143delT
- NM_001407648.1:c.143delT
- NM_001407649.1:c.143delT
- NM_001407652.1:c.143delT
- NM_001407664.1:c.143delT
- NM_001407665.1:c.143delT
- NM_001407666.1:c.143delT
- NM_001407667.1:c.143delT
- NM_001407668.1:c.143delT
- NM_001407669.1:c.143delT
- NM_001407670.1:c.143delT
- NM_001407671.1:c.143delT
- NM_001407672.1:c.143delT
- NM_001407673.1:c.143delT
- NM_001407674.1:c.143delT
- NM_001407675.1:c.143delT
- NM_001407676.1:c.143delT
- NM_001407677.1:c.143delT
- NM_001407678.1:c.143delT
- NM_001407679.1:c.143delT
- NM_001407680.1:c.143delT
- NM_001407681.1:c.143delT
- NM_001407682.1:c.143delT
- NM_001407683.1:c.143delT
- NM_001407684.1:c.143delT
- NM_001407685.1:c.143delT
- NM_001407686.1:c.143delT
- NM_001407687.1:c.143delT
- NM_001407688.1:c.143delT
- NM_001407689.1:c.143delT
- NM_001407690.1:c.143delT
- NM_001407691.1:c.143delT
- NM_001407692.1:c.2delT
- NM_001407694.1:c.2delT
- NM_001407695.1:c.2delT
- NM_001407696.1:c.2delT
- NM_001407697.1:c.2delT
- NM_001407698.1:c.2delT
- NM_001407724.1:c.2delT
- NM_001407725.1:c.2delT
- NM_001407726.1:c.2delT
- NM_001407727.1:c.2delT
- NM_001407728.1:c.2delT
- NM_001407729.1:c.2delT
- NM_001407730.1:c.2delT
- NM_001407731.1:c.2delT
- NM_001407732.1:c.2delT
- NM_001407733.1:c.2delT
- NM_001407734.1:c.2delT
- NM_001407735.1:c.2delT
- NM_001407736.1:c.2delT
- NM_001407737.1:c.2delT
- NM_001407738.1:c.2delT
- NM_001407739.1:c.2delT
- NM_001407740.1:c.2delT
- NM_001407741.1:c.2delT
- NM_001407742.1:c.2delT
- NM_001407743.1:c.2delT
- NM_001407744.1:c.2delT
- NM_001407745.1:c.2delT
- NM_001407746.1:c.2delT
- NM_001407747.1:c.2delT
- NM_001407748.1:c.2delT
- NM_001407749.1:c.2delT
- NM_001407750.1:c.2delT
- NM_001407751.1:c.2delT
- NM_001407752.1:c.2delT
- NM_001407838.1:c.2delT
- NM_001407839.1:c.2delT
- NM_001407841.1:c.2delT
- NM_001407842.1:c.2delT
- NM_001407843.1:c.2delT
- NM_001407844.1:c.2delT
- NM_001407845.1:c.2delT
- NM_001407846.1:c.2delT
- NM_001407847.1:c.2delT
- NM_001407848.1:c.2delT
- NM_001407849.1:c.2delT
- NM_001407850.1:c.2delT
- NM_001407851.1:c.2delT
- NM_001407852.1:c.2delT
- NM_001407853.1:c.-46delT
- NM_001407854.1:c.143delT
- NM_001407858.1:c.143delT
- NM_001407859.1:c.143delT
- NM_001407860.1:c.143delT
- NM_001407861.1:c.143delT
- NM_001407863.1:c.143delT
- 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
- NM_001407920.1:c.2delT
- NM_001407921.1:c.2delT
- NM_001407922.1:c.2delT
- NM_001407923.1:c.2delT
- NM_001407924.1:c.2delT
- NM_001407925.1:c.2delT
- NM_001407926.1:c.2delT
- NM_001407927.1:c.2delT
- NM_001407928.1:c.2delT
- NM_001407929.1:c.2delT
- NM_001407930.1:c.2delT
- NM_001407931.1:c.2delT
- NM_001407932.1:c.2delT
- NM_001407933.1:c.2delT
- NM_001407934.1:c.2delT
- NM_001407935.1:c.2delT
- NM_001407936.1:c.2delT
- NM_001407937.1:c.143delT
- NM_001407938.1:c.143delT
- NM_001407939.1:c.143delT
- NM_001407940.1:c.143delT
- NM_001407941.1:c.143delT
- NM_001407942.1:c.2delT
- NM_001407943.1:c.2delT
- NM_001407944.1:c.2delT
- NM_001407945.1:c.2delT
- 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
- NM_001407968.1:c.143delT
- NM_001407969.1:c.143delT
- NM_001407970.1:c.143delT
- NM_001407971.1:c.143delT
- NM_001407972.1:c.143delT
- NM_001407973.1:c.143delT
- NM_001407974.1:c.143delT
- NM_001407975.1:c.143delT
- NM_001407976.1:c.143delT
- NM_001407977.1:c.143delT
- NM_001407978.1:c.143delT
- NM_001407979.1:c.143delT
- NM_001407980.1:c.143delT
- NM_001407981.1:c.143delT
- NM_001407982.1:c.143delT
- NM_001407983.1:c.143delT
- NM_001407984.1:c.143delT
- NM_001407985.1:c.143delT
- NM_001407986.1:c.143delT
- NM_001407990.1:c.143delT
- NM_001407991.1:c.143delT
- NM_001407992.1:c.143delT
- NM_001407993.1:c.143delT
- NM_001408392.1:c.143delT
- NM_001408396.1:c.143delT
- NM_001408397.1:c.143delT
- NM_001408398.1:c.143delT
- NM_001408399.1:c.143delT
- NM_001408400.1:c.143delT
- NM_001408401.1:c.143delT
- NM_001408402.1:c.143delT
- NM_001408403.1:c.143delT
- NM_001408404.1:c.143delT
- NM_001408406.1:c.143delT
- NM_001408407.1:c.143delT
- NM_001408408.1:c.143delT
- NM_001408410.1:c.2delT
- NM_001408418.1:c.143delT
- NM_001408419.1:c.143delT
- NM_001408420.1:c.143delT
- NM_001408421.1:c.143delT
- NM_001408422.1:c.143delT
- NM_001408423.1:c.143delT
- NM_001408424.1:c.143delT
- NM_001408425.1:c.143delT
- NM_001408426.1:c.143delT
- NM_001408427.1:c.143delT
- NM_001408428.1:c.143delT
- NM_001408429.1:c.143delT
- NM_001408430.1:c.143delT
- NM_001408431.1:c.143delT
- NM_001408432.1:c.143delT
- NM_001408433.1:c.143delT
- NM_001408434.1:c.143delT
- NM_001408435.1:c.143delT
- NM_001408436.1:c.143delT
- NM_001408437.1:c.143delT
- NM_001408438.1:c.143delT
- NM_001408439.1:c.143delT
- NM_001408440.1:c.143delT
- NM_001408441.1:c.143delT
- NM_001408442.1:c.143delT
- NM_001408443.1:c.143delT
- NM_001408444.1:c.143delT
- NM_001408445.1:c.143delT
- NM_001408446.1:c.143delT
- NM_001408447.1:c.143delT
- NM_001408448.1:c.143delT
- NM_001408450.1:c.143delT
- NM_001408452.1:c.2delT
- NM_001408453.1:c.2delT
- NM_001408454.1:c.2delT
- NM_001408455.1:c.2delT
- NM_001408456.1:c.2delT
- NM_001408457.1:c.2delT
- NM_001408458.1:c.2delT
- NM_001408459.1:c.2delT
- NM_001408460.1:c.2delT
- NM_001408461.1:c.2delT
- NM_001408462.1:c.2delT
- NM_001408463.1:c.2delT
- NM_001408464.1:c.2delT
- NM_001408465.1:c.2delT
- NM_001408466.1:c.2delT
- NM_001408467.1:c.2delT
- NM_001408468.1:c.2delT
- NM_001408469.1:c.2delT
- NM_001408470.1:c.2delT
- NM_001408472.1:c.143delT
- NM_001408473.1:c.143delT
- 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
- NM_001408495.1:c.143delT
- NM_001408496.1:c.2delT
- NM_001408497.1:c.2delT
- NM_001408498.1:c.2delT
- NM_001408499.1:c.2delT
- NM_001408500.1:c.2delT
- NM_001408501.1:c.2delT
- NM_001408502.1:c.-46delT
- NM_001408503.1:c.2delT
- NM_001408504.1:c.2delT
- NM_001408505.1:c.2delT
- 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
- NM_001408513.1:c.-46delT
- NM_001408514.1:c.-46delT
- NM_007294.4:c.143delMANE SELECT
- NM_007297.4:c.2del
- NM_007298.4:c.143delT
- NM_007299.4:c.143del
- NM_007300.4:c.143del
- NM_007304.2:c.143delT
- NP_001394510.1:p.Met48Serfs
- NP_001394511.1:p.Met48Serfs
- NP_001394512.1:p.Met48Serfs
- NP_001394514.1:p.Met48Serfs
- NP_001394516.1:p.Met48Serfs
- NP_001394519.1:p.Met48Serfs
- NP_001394520.1:p.Met48Serfs
- NP_001394522.1:p.Met48Serfs
- NP_001394523.1:p.Met48Serfs
- NP_001394525.1:p.Met48Serfs
- NP_001394526.1:p.Met48Serfs
- NP_001394527.1:p.Met48Serfs
- NP_001394531.1:p.Met48Serfs
- NP_001394532.1:p.Met48Serfs
- NP_001394534.1:p.Met48Serfs
- NP_001394539.1:p.Met48Serfs
- NP_001394540.1:p.Met48Serfs
- NP_001394541.1:p.Met48Serfs
- NP_001394542.1:p.Met48Serfs
- NP_001394543.1:p.Met48Serfs
- NP_001394544.1:p.Met48Serfs
- NP_001394545.1:p.Met48Serfs
- NP_001394546.1:p.Met48Serfs
- NP_001394547.1:p.Met48Serfs
- NP_001394548.1:p.Met48Serfs
- NP_001394549.1:p.Met48Serfs
- NP_001394550.1:p.Met48Serfs
- NP_001394551.1:p.Met48Serfs
- NP_001394552.1:p.Met48Serfs
- NP_001394553.1:p.Met48Serfs
- NP_001394554.1:p.Met48Serfs
- NP_001394555.1:p.Met48Serfs
- NP_001394556.1:p.Met48Serfs
- NP_001394557.1:p.Met48Serfs
- NP_001394558.1:p.Met48Serfs
- NP_001394559.1:p.Met48Serfs
- NP_001394560.1:p.Met48Serfs
- NP_001394561.1:p.Met48Serfs
- NP_001394562.1:p.Met48Serfs
- NP_001394563.1:p.Met48Serfs
- NP_001394564.1:p.Met48Serfs
- NP_001394565.1:p.Met48Serfs
- NP_001394566.1:p.Met48Serfs
- NP_001394567.1:p.Met48Serfs
- NP_001394568.1:p.Met48Serfs
- NP_001394569.1:p.Met48Serfs
- NP_001394570.1:p.Met48Serfs
- NP_001394571.1:p.Met48Serfs
- NP_001394573.1:p.Met48Serfs
- NP_001394574.1:p.Met48Serfs
- NP_001394575.1:p.Met48Serfs
- NP_001394576.1:p.Met48Serfs
- NP_001394577.1:p.Met48Serfs
- NP_001394578.1:p.Met48Serfs
- NP_001394581.1:p.Met48Serfs
- NP_001394593.1:p.Met48Serfs
- NP_001394594.1:p.Met48Serfs
- NP_001394595.1:p.Met48Serfs
- NP_001394596.1:p.Met48Serfs
- NP_001394597.1:p.Met48Serfs
- NP_001394598.1:p.Met48Serfs
- NP_001394599.1:p.Met48Serfs
- NP_001394600.1:p.Met48Serfs
- NP_001394601.1:p.Met48Serfs
- NP_001394602.1:p.Met48Serfs
- NP_001394603.1:p.Met48Serfs
- NP_001394604.1:p.Met48Serfs
- NP_001394605.1:p.Met48Serfs
- NP_001394606.1:p.Met48Serfs
- NP_001394607.1:p.Met48Serfs
- NP_001394608.1:p.Met48Serfs
- NP_001394609.1:p.Met48Serfs
- NP_001394610.1:p.Met48Serfs
- NP_001394611.1:p.Met48Serfs
- NP_001394612.1:p.Met48Serfs
- NP_001394613.1:p.Met48Serfs
- NP_001394614.1:p.Met48Serfs
- NP_001394615.1:p.Met48Serfs
- NP_001394616.1:p.Met48Serfs
- NP_001394617.1:p.Met48Serfs
- NP_001394618.1:p.Met48Serfs
- NP_001394619.1:p.Met48Serfs
- NP_001394620.1:p.Met48Serfs
- NP_001394621.1:p.Met1Serfs
- NP_001394623.1:p.Met1Serfs
- NP_001394624.1:p.Met1Serfs
- NP_001394625.1:p.Met1Serfs
- NP_001394626.1:p.Met1Serfs
- NP_001394627.1:p.Met1Serfs
- NP_001394653.1:p.Met1Serfs
- NP_001394654.1:p.Met1Serfs
- NP_001394655.1:p.Met1Serfs
- NP_001394656.1:p.Met1Serfs
- NP_001394657.1:p.Met1Serfs
- NP_001394658.1:p.Met1Serfs
- NP_001394659.1:p.Met1Serfs
- NP_001394660.1:p.Met1Serfs
- NP_001394661.1:p.Met1Serfs
- NP_001394662.1:p.Met1Serfs
- NP_001394663.1:p.Met1Serfs
- NP_001394664.1:p.Met1Serfs
- NP_001394665.1:p.Met1Serfs
- NP_001394666.1:p.Met1Serfs
- NP_001394667.1:p.Met1Serfs
- NP_001394668.1:p.Met1Serfs
- NP_001394669.1:p.Met1Serfs
- NP_001394670.1:p.Met1Serfs
- NP_001394671.1:p.Met1Serfs
- NP_001394672.1:p.Met1Serfs
- NP_001394673.1:p.Met1Serfs
- NP_001394674.1:p.Met1Serfs
- NP_001394675.1:p.Met1Serfs
- NP_001394676.1:p.Met1Serfs
- NP_001394677.1:p.Met1Serfs
- NP_001394678.1:p.Met1Serfs
- NP_001394679.1:p.Met1Serfs
- NP_001394680.1:p.Met1Serfs
- NP_001394681.1:p.Met1Serfs
- NP_001394767.1:p.Met1Serfs
- NP_001394768.1:p.Met1Serfs
- NP_001394770.1:p.Met1Serfs
- NP_001394771.1:p.Met1Serfs
- NP_001394772.1:p.Met1Serfs
- NP_001394773.1:p.Met1Serfs
- NP_001394774.1:p.Met1Serfs
- NP_001394775.1:p.Met1Serfs
- NP_001394776.1:p.Met1Serfs
- NP_001394777.1:p.Met1Serfs
- NP_001394778.1:p.Met1Serfs
- NP_001394779.1:p.Met1Serfs
- NP_001394780.1:p.Met1Serfs
- NP_001394781.1:p.Met1Serfs
- NP_001394783.1:p.Met48Serfs
- NP_001394787.1:p.Met48Serfs
- NP_001394788.1:p.Met48Serfs
- NP_001394789.1:p.Met48Serfs
- NP_001394790.1:p.Met48Serfs
- NP_001394792.1:p.Met48Serfs
- NP_001394848.1:p.Met48Serfs
- NP_001394849.1:p.Met1Serfs
- NP_001394850.1:p.Met1Serfs
- NP_001394851.1:p.Met1Serfs
- NP_001394852.1:p.Met1Serfs
- NP_001394853.1:p.Met1Serfs
- NP_001394854.1:p.Met1Serfs
- NP_001394855.1:p.Met1Serfs
- NP_001394856.1:p.Met1Serfs
- NP_001394857.1:p.Met1Serfs
- NP_001394858.1:p.Met1Serfs
- NP_001394859.1:p.Met1Serfs
- NP_001394860.1:p.Met1Serfs
- NP_001394861.1:p.Met1Serfs
- NP_001394862.1:p.Met1Serfs
- NP_001394863.1:p.Met1Serfs
- NP_001394864.1:p.Met1Serfs
- NP_001394865.1:p.Met1Serfs
- NP_001394866.1:p.Met48Serfs
- NP_001394867.1:p.Met48Serfs
- NP_001394868.1:p.Met48Serfs
- NP_001394869.1:p.Met48Serfs
- NP_001394870.1:p.Met48Serfs
- NP_001394871.1:p.Met1Serfs
- NP_001394872.1:p.Met1Serfs
- NP_001394873.1:p.Met1Serfs
- NP_001394874.1:p.Met1Serfs
- NP_001394893.1:p.Met1Serfs
- NP_001394897.1:p.Met48Serfs
- NP_001394898.1:p.Met48Serfs
- NP_001394899.1:p.Met48Serfs
- NP_001394900.1:p.Met48Serfs
- NP_001394901.1:p.Met48Serfs
- NP_001394902.1:p.Met48Serfs
- NP_001394903.1:p.Met48Serfs
- NP_001394904.1:p.Met48Serfs
- NP_001394905.1:p.Met48Serfs
- NP_001394906.1:p.Met48Serfs
- NP_001394907.1:p.Met48Serfs
- NP_001394908.1:p.Met48Serfs
- NP_001394909.1:p.Met48Serfs
- NP_001394910.1:p.Met48Serfs
- NP_001394911.1:p.Met48Serfs
- NP_001394912.1:p.Met48Serfs
- NP_001394913.1:p.Met48Serfs
- NP_001394914.1:p.Met48Serfs
- NP_001394915.1:p.Met48Serfs
- NP_001394919.1:p.Met48Serfs
- NP_001394920.1:p.Met48Serfs
- NP_001394921.1:p.Met48Serfs
- NP_001394922.1:p.Met48Serfs
- NP_001395321.1:p.Met48Serfs
- NP_001395325.1:p.Met48Serfs
- NP_001395326.1:p.Met48Serfs
- NP_001395327.1:p.Met48Serfs
- NP_001395328.1:p.Met48Serfs
- NP_001395329.1:p.Met48Serfs
- NP_001395330.1:p.Met48Serfs
- NP_001395331.1:p.Met48Serfs
- NP_001395332.1:p.Met48Serfs
- NP_001395333.1:p.Met48Serfs
- NP_001395335.1:p.Met48Serfs
- NP_001395336.1:p.Met48Serfs
- NP_001395337.1:p.Met48Serfs
- NP_001395339.1:p.Met1Serfs
- NP_001395347.1:p.Met48Serfs
- NP_001395348.1:p.Met48Serfs
- NP_001395349.1:p.Met48Serfs
- NP_001395350.1:p.Met48Serfs
- NP_001395351.1:p.Met48Serfs
- NP_001395352.1:p.Met48Serfs
- NP_001395353.1:p.Met48Serfs
- NP_001395354.1:p.Met48Serfs
- NP_001395355.1:p.Met48Serfs
- NP_001395356.1:p.Met48Serfs
- NP_001395357.1:p.Met48Serfs
- NP_001395358.1:p.Met48Serfs
- NP_001395359.1:p.Met48Serfs
- NP_001395360.1:p.Met48Serfs
- NP_001395361.1:p.Met48Serfs
- NP_001395362.1:p.Met48Serfs
- NP_001395363.1:p.Met48Serfs
- NP_001395364.1:p.Met48Serfs
- NP_001395365.1:p.Met48Serfs
- NP_001395366.1:p.Met48Serfs
- NP_001395367.1:p.Met48Serfs
- NP_001395368.1:p.Met48Serfs
- NP_001395369.1:p.Met48Serfs
- NP_001395370.1:p.Met48Serfs
- NP_001395371.1:p.Met48Serfs
- NP_001395372.1:p.Met48Serfs
- NP_001395373.1:p.Met48Serfs
- NP_001395374.1:p.Met48Serfs
- NP_001395375.1:p.Met48Serfs
- NP_001395376.1:p.Met48Serfs
- NP_001395377.1:p.Met48Serfs
- NP_001395379.1:p.Met48Serfs
- NP_001395381.1:p.Met1Serfs
- NP_001395382.1:p.Met1Serfs
- NP_001395383.1:p.Met1Serfs
- NP_001395384.1:p.Met1Serfs
- NP_001395385.1:p.Met1Serfs
- NP_001395386.1:p.Met1Serfs
- NP_001395387.1:p.Met1Serfs
- NP_001395388.1:p.Met1Serfs
- NP_001395389.1:p.Met1Serfs
- NP_001395390.1:p.Met1Serfs
- NP_001395391.1:p.Met1Serfs
- NP_001395392.1:p.Met1Serfs
- NP_001395393.1:p.Met1Serfs
- NP_001395394.1:p.Met1Serfs
- NP_001395395.1:p.Met1Serfs
- NP_001395396.1:p.Met1Serfs
- NP_001395397.1:p.Met1Serfs
- NP_001395398.1:p.Met1Serfs
- NP_001395399.1:p.Met1Serfs
- NP_001395401.1:p.Met48Serfs
- NP_001395402.1:p.Met48Serfs
- NP_001395423.1:p.Met48Serfs
- NP_001395424.1:p.Met48Serfs
- NP_001395425.1:p.Met1Serfs
- NP_001395426.1:p.Met1Serfs
- NP_001395427.1:p.Met1Serfs
- NP_001395428.1:p.Met1Serfs
- NP_001395429.1:p.Met1Serfs
- NP_001395430.1:p.Met1Serfs
- NP_001395432.1:p.Met1Serfs
- NP_001395433.1:p.Met1Serfs
- NP_001395434.1:p.Met1Serfs
- NP_001395440.1:p.Met1Serfs
- NP_009225.1:p.Met48Serfs
- NP_009225.1:p.Met48fs
- NP_009228.2:p.Met1fs
- NP_009229.2:p.Met48Serfs
- NP_009229.2:p.Met48fs
- NP_009230.2:p.Met48fs
- NP_009231.2:p.Met48fs
- NP_009235.2:p.Met48Serfs
- LRG_292t1:c.143del
- LRG_292:g.111459del
- LRG_292p1:p.Met48Serfs
- NC_000017.10:g.41258542del
- NC_000017.10:g.41258542delA
- NM_007294.3:c.143delT
- NM_007294.3:c.143delT
- NM_007294.4:c.143del
- NM_007298.3:c.143del
- NR_027676.2:n.345del
- U14680.1:n.262delT
- p.M48SFS*2
- p.Met48SerfsX2
This HGVS expression did not pass validation- Nucleotide change:
- 262delT
- Protein change:
- M1fs
- Links:
- Breast Cancer Information Core (BIC) (BRCA1): 262&base_change=del T; dbSNP: rs80357637
- NCBI 1000 Genomes Browser:
- rs80357637
- Molecular consequence:
- NM_001407581.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407582.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407583.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407585.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407587.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407590.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407591.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407593.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407594.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407596.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407597.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407598.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407602.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407603.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407605.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407610.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407611.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407612.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407613.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407614.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407615.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407616.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407617.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407618.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407619.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407620.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407621.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407622.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407623.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407624.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407625.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407626.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407627.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407628.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407629.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407630.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407631.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407632.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407633.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407634.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407635.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407636.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407637.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407638.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407639.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407640.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407641.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407642.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407644.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407645.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407646.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407647.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407648.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407649.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407652.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407664.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407665.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407666.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407667.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407668.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407669.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407670.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407671.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407672.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407673.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407674.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407675.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407676.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407677.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407678.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407679.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407680.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407681.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407682.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407683.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407684.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407685.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407686.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407687.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407688.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407689.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407690.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407691.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407692.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407694.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407695.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407696.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407697.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407698.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407724.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407725.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407726.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407727.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407728.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407729.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407730.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407731.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407732.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407733.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407734.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407735.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407736.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407737.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407738.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407739.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407740.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407741.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407742.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407743.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407744.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407745.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407746.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407747.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407748.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407749.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407750.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407751.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407752.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407838.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407839.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407841.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407842.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407843.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407844.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407845.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407846.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407847.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407848.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407849.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407850.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407851.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407852.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407854.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407858.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407859.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407860.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407861.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407863.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407919.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407920.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407921.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407922.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407923.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407924.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407925.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407926.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407927.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407928.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407929.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407930.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407931.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407932.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407933.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407934.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407935.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407936.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407937.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407938.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407939.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407940.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407941.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407942.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407943.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407944.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407945.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407964.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407968.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407969.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407970.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407971.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407972.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407973.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407974.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407975.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407976.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407977.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407978.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407979.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407980.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407981.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407982.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407983.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407984.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407985.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407986.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407990.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407991.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407992.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407993.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408392.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408396.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408397.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408398.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408399.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408400.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408401.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408402.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408403.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408404.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408406.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408407.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408408.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408410.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408418.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408419.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408420.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408421.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408422.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408423.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408424.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408425.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408426.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408427.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408428.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408429.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408430.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408431.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408432.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408433.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408434.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408435.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408436.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408437.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408438.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408439.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408440.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408441.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408442.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408443.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408444.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408445.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408446.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408447.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408448.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408450.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408452.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408453.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408454.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408455.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408456.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408457.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408458.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408459.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408460.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408461.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408462.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408463.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408464.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408465.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408466.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408467.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408468.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408469.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408470.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408472.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408473.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408494.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408495.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408496.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408497.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408498.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408499.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408500.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408501.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408503.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408504.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408505.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408511.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007294.4:c.143del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007297.4:c.2del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007298.4:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007299.4:c.143del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007300.4:c.143del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007304.2:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007297.4:c.2del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NR_027676.2:n.345del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000184173 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Pathogenic (Mar 23, 2023) | germline | clinical testing | |
SCV000911646 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Nov 22, 2021) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.
Spearman AD, Sweet K, Zhou XP, McLennan J, Couch FJ, Toland AE.
J Clin Oncol. 2008 Nov 20;26(33):5393-400. doi: 10.1200/JCO.2008.17.8228. Epub 2008 Sep 29. Erratum in: J Clin Oncol. 2009 May 10;27(14):2415.
- PMID:
- 18824701
- PMCID:
- PMC2651073
Walker LC, Marquart L, Pearson JF, Wiggins GA, O'Mara TA, Parsons MT; BCFR, Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D; EMBRACE, Godwin AK, Meindl A, Schmutzler RK; GEMO Study Collaborators, Isaacs C, Peshkin BN, Caldes T, et al.
Eur J Hum Genet. 2017 Apr;25(4):432-438. doi: 10.1038/ejhg.2016.203. Epub 2017 Feb 1. Erratum in: Eur J Hum Genet. 2019 Jan;27(1):167-168. doi: 10.1038/s41431-018-0216-1..
- PMID:
- 28145423
- PMCID:
- PMC5386423
Details of each submission
From Ambry Genetics, SCV000184173.10
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (5) |
Description
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.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Color Diagnostics, LLC DBA Color Health, SCV000911646.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (4) |
Description
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.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Nov 24, 2024