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NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 16, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000489726.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter)]

NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter)
HGVS:
  • NC_000017.11:g.43104187G>A
  • NG_005905.2:g.113797C>T
  • NM_001407571.1:c.166C>T
  • NM_001407581.1:c.376C>T
  • NM_001407582.1:c.376C>T
  • NM_001407583.1:c.376C>T
  • NM_001407585.1:c.376C>T
  • NM_001407587.1:c.376C>T
  • NM_001407590.1:c.376C>T
  • NM_001407591.1:c.376C>T
  • NM_001407593.1:c.376C>T
  • NM_001407594.1:c.376C>T
  • NM_001407596.1:c.376C>T
  • NM_001407597.1:c.376C>T
  • NM_001407598.1:c.376C>T
  • NM_001407602.1:c.376C>T
  • NM_001407603.1:c.376C>T
  • NM_001407605.1:c.376C>T
  • NM_001407610.1:c.376C>T
  • NM_001407611.1:c.376C>T
  • NM_001407612.1:c.376C>T
  • NM_001407613.1:c.376C>T
  • NM_001407614.1:c.376C>T
  • NM_001407615.1:c.376C>T
  • NM_001407616.1:c.376C>T
  • NM_001407617.1:c.376C>T
  • NM_001407618.1:c.376C>T
  • NM_001407619.1:c.376C>T
  • NM_001407620.1:c.376C>T
  • NM_001407621.1:c.376C>T
  • NM_001407622.1:c.376C>T
  • NM_001407623.1:c.376C>T
  • NM_001407624.1:c.376C>T
  • NM_001407625.1:c.376C>T
  • NM_001407626.1:c.376C>T
  • NM_001407627.1:c.376C>T
  • NM_001407628.1:c.376C>T
  • NM_001407629.1:c.376C>T
  • NM_001407630.1:c.376C>T
  • NM_001407631.1:c.376C>T
  • NM_001407632.1:c.376C>T
  • NM_001407633.1:c.376C>T
  • NM_001407634.1:c.376C>T
  • NM_001407635.1:c.376C>T
  • NM_001407636.1:c.376C>T
  • NM_001407637.1:c.376C>T
  • NM_001407638.1:c.376C>T
  • NM_001407639.1:c.376C>T
  • NM_001407640.1:c.376C>T
  • NM_001407641.1:c.376C>T
  • NM_001407642.1:c.376C>T
  • NM_001407644.1:c.376C>T
  • NM_001407645.1:c.376C>T
  • NM_001407646.1:c.367C>T
  • NM_001407647.1:c.367C>T
  • NM_001407648.1:c.376C>T
  • NM_001407649.1:c.376C>T
  • NM_001407652.1:c.376C>T
  • NM_001407653.1:c.298C>T
  • NM_001407654.1:c.298C>T
  • NM_001407655.1:c.298C>T
  • NM_001407656.1:c.298C>T
  • NM_001407657.1:c.298C>T
  • NM_001407658.1:c.298C>T
  • NM_001407659.1:c.298C>T
  • NM_001407660.1:c.298C>T
  • NM_001407661.1:c.298C>T
  • NM_001407662.1:c.298C>T
  • NM_001407663.1:c.298C>T
  • NM_001407664.1:c.376C>T
  • NM_001407665.1:c.376C>T
  • NM_001407666.1:c.376C>T
  • NM_001407667.1:c.376C>T
  • NM_001407668.1:c.376C>T
  • NM_001407669.1:c.376C>T
  • NM_001407670.1:c.376C>T
  • NM_001407671.1:c.376C>T
  • NM_001407672.1:c.376C>T
  • NM_001407673.1:c.376C>T
  • NM_001407674.1:c.376C>T
  • NM_001407675.1:c.376C>T
  • NM_001407676.1:c.376C>T
  • NM_001407677.1:c.376C>T
  • NM_001407678.1:c.376C>T
  • NM_001407679.1:c.376C>T
  • NM_001407680.1:c.376C>T
  • NM_001407681.1:c.376C>T
  • NM_001407682.1:c.376C>T
  • NM_001407683.1:c.376C>T
  • NM_001407684.1:c.376C>T
  • NM_001407685.1:c.376C>T
  • NM_001407686.1:c.376C>T
  • NM_001407687.1:c.376C>T
  • NM_001407688.1:c.376C>T
  • NM_001407689.1:c.376C>T
  • NM_001407690.1:c.376C>T
  • NM_001407691.1:c.376C>T
  • NM_001407692.1:c.235C>T
  • NM_001407694.1:c.235C>T
  • NM_001407695.1:c.235C>T
  • NM_001407696.1:c.235C>T
  • NM_001407697.1:c.235C>T
  • NM_001407698.1:c.235C>T
  • NM_001407724.1:c.235C>T
  • NM_001407725.1:c.235C>T
  • NM_001407726.1:c.235C>T
  • NM_001407727.1:c.235C>T
  • NM_001407728.1:c.235C>T
  • NM_001407729.1:c.235C>T
  • NM_001407730.1:c.235C>T
  • NM_001407731.1:c.235C>T
  • NM_001407732.1:c.235C>T
  • NM_001407733.1:c.235C>T
  • NM_001407734.1:c.235C>T
  • NM_001407735.1:c.235C>T
  • NM_001407736.1:c.235C>T
  • NM_001407737.1:c.235C>T
  • NM_001407738.1:c.235C>T
  • NM_001407739.1:c.235C>T
  • NM_001407740.1:c.235C>T
  • NM_001407741.1:c.235C>T
  • NM_001407742.1:c.235C>T
  • NM_001407743.1:c.235C>T
  • NM_001407744.1:c.235C>T
  • NM_001407745.1:c.235C>T
  • NM_001407746.1:c.235C>T
  • NM_001407747.1:c.235C>T
  • NM_001407748.1:c.235C>T
  • NM_001407749.1:c.235C>T
  • NM_001407750.1:c.235C>T
  • NM_001407751.1:c.235C>T
  • NM_001407752.1:c.235C>T
  • NM_001407838.1:c.235C>T
  • NM_001407839.1:c.235C>T
  • NM_001407841.1:c.235C>T
  • NM_001407842.1:c.235C>T
  • NM_001407843.1:c.235C>T
  • NM_001407844.1:c.235C>T
  • NM_001407845.1:c.235C>T
  • NM_001407846.1:c.235C>T
  • NM_001407847.1:c.235C>T
  • NM_001407848.1:c.235C>T
  • NM_001407849.1:c.235C>T
  • NM_001407850.1:c.235C>T
  • NM_001407851.1:c.235C>T
  • NM_001407852.1:c.235C>T
  • NM_001407853.1:c.166C>T
  • NM_001407854.1:c.376C>T
  • NM_001407858.1:c.376C>T
  • NM_001407859.1:c.376C>T
  • NM_001407860.1:c.376C>T
  • NM_001407861.1:c.376C>T
  • NM_001407862.1:c.298C>T
  • NM_001407863.1:c.376C>T
  • NM_001407874.1:c.298C>T
  • NM_001407875.1:c.298C>T
  • NM_001407879.1:c.166C>T
  • NM_001407881.1:c.166C>T
  • NM_001407882.1:c.166C>T
  • NM_001407884.1:c.166C>T
  • NM_001407885.1:c.166C>T
  • NM_001407886.1:c.166C>T
  • NM_001407887.1:c.166C>T
  • NM_001407889.1:c.166C>T
  • NM_001407894.1:c.166C>T
  • NM_001407895.1:c.166C>T
  • NM_001407896.1:c.166C>T
  • NM_001407897.1:c.166C>T
  • NM_001407898.1:c.166C>T
  • NM_001407899.1:c.166C>T
  • NM_001407900.1:c.166C>T
  • NM_001407902.1:c.166C>T
  • NM_001407904.1:c.166C>T
  • NM_001407906.1:c.166C>T
  • NM_001407907.1:c.166C>T
  • NM_001407908.1:c.166C>T
  • NM_001407909.1:c.166C>T
  • NM_001407910.1:c.166C>T
  • NM_001407915.1:c.166C>T
  • NM_001407916.1:c.166C>T
  • NM_001407917.1:c.166C>T
  • NM_001407918.1:c.166C>T
  • NM_001407919.1:c.376C>T
  • NM_001407920.1:c.235C>T
  • NM_001407921.1:c.235C>T
  • NM_001407922.1:c.235C>T
  • NM_001407923.1:c.235C>T
  • NM_001407924.1:c.235C>T
  • NM_001407925.1:c.235C>T
  • NM_001407926.1:c.235C>T
  • NM_001407927.1:c.235C>T
  • NM_001407928.1:c.235C>T
  • NM_001407929.1:c.235C>T
  • NM_001407930.1:c.235C>T
  • NM_001407931.1:c.235C>T
  • NM_001407932.1:c.235C>T
  • NM_001407933.1:c.235C>T
  • NM_001407934.1:c.235C>T
  • NM_001407935.1:c.235C>T
  • NM_001407936.1:c.235C>T
  • NM_001407937.1:c.376C>T
  • NM_001407938.1:c.376C>T
  • NM_001407939.1:c.376C>T
  • NM_001407940.1:c.376C>T
  • NM_001407941.1:c.376C>T
  • NM_001407942.1:c.235C>T
  • NM_001407943.1:c.235C>T
  • NM_001407944.1:c.235C>T
  • NM_001407945.1:c.235C>T
  • NM_001407946.1:c.166C>T
  • NM_001407947.1:c.166C>T
  • NM_001407948.1:c.166C>T
  • NM_001407949.1:c.166C>T
  • NM_001407950.1:c.166C>T
  • NM_001407951.1:c.166C>T
  • NM_001407952.1:c.166C>T
  • NM_001407953.1:c.166C>T
  • NM_001407954.1:c.166C>T
  • NM_001407955.1:c.166C>T
  • NM_001407956.1:c.166C>T
  • NM_001407957.1:c.166C>T
  • NM_001407958.1:c.166C>T
  • NM_001407959.1:c.-6C>T
  • NM_001407960.1:c.-6C>T
  • NM_001407962.1:c.-6C>T
  • NM_001407963.1:c.-6C>T
  • NM_001407964.1:c.235C>T
  • NM_001407965.1:c.-6C>T
  • NM_001407968.1:c.376C>T
  • NM_001407969.1:c.376C>T
  • NM_001407970.1:c.376C>T
  • NM_001407971.1:c.376C>T
  • NM_001407972.1:c.376C>T
  • NM_001407973.1:c.376C>T
  • NM_001407974.1:c.376C>T
  • NM_001407975.1:c.376C>T
  • NM_001407976.1:c.376C>T
  • NM_001407977.1:c.376C>T
  • NM_001407978.1:c.376C>T
  • NM_001407979.1:c.376C>T
  • NM_001407980.1:c.376C>T
  • NM_001407981.1:c.376C>T
  • NM_001407982.1:c.376C>T
  • NM_001407983.1:c.376C>T
  • NM_001407984.1:c.376C>T
  • NM_001407985.1:c.376C>T
  • NM_001407986.1:c.376C>T
  • NM_001407990.1:c.376C>T
  • NM_001407991.1:c.376C>T
  • NM_001407992.1:c.376C>T
  • NM_001407993.1:c.376C>T
  • NM_001408392.1:c.376C>T
  • NM_001408396.1:c.376C>T
  • NM_001408397.1:c.376C>T
  • NM_001408398.1:c.376C>T
  • NM_001408399.1:c.376C>T
  • NM_001408400.1:c.376C>T
  • NM_001408401.1:c.376C>T
  • NM_001408402.1:c.376C>T
  • NM_001408403.1:c.376C>T
  • NM_001408404.1:c.376C>T
  • NM_001408406.1:c.376C>T
  • NM_001408407.1:c.376C>T
  • NM_001408408.1:c.367C>T
  • NM_001408409.1:c.298C>T
  • NM_001408410.1:c.235C>T
  • NM_001408411.1:c.298C>T
  • NM_001408412.1:c.298C>T
  • NM_001408413.1:c.298C>T
  • NM_001408414.1:c.298C>T
  • NM_001408415.1:c.298C>T
  • NM_001408416.1:c.298C>T
  • NM_001408418.1:c.376C>T
  • NM_001408419.1:c.376C>T
  • NM_001408420.1:c.376C>T
  • NM_001408421.1:c.376C>T
  • NM_001408422.1:c.376C>T
  • NM_001408423.1:c.376C>T
  • NM_001408424.1:c.376C>T
  • NM_001408425.1:c.376C>T
  • NM_001408426.1:c.376C>T
  • NM_001408427.1:c.376C>T
  • NM_001408428.1:c.376C>T
  • NM_001408429.1:c.376C>T
  • NM_001408430.1:c.376C>T
  • NM_001408431.1:c.376C>T
  • NM_001408432.1:c.376C>T
  • NM_001408433.1:c.376C>T
  • NM_001408434.1:c.376C>T
  • NM_001408435.1:c.376C>T
  • NM_001408436.1:c.376C>T
  • NM_001408437.1:c.376C>T
  • NM_001408438.1:c.376C>T
  • NM_001408439.1:c.376C>T
  • NM_001408440.1:c.376C>T
  • NM_001408441.1:c.376C>T
  • NM_001408442.1:c.376C>T
  • NM_001408443.1:c.376C>T
  • NM_001408444.1:c.376C>T
  • NM_001408445.1:c.376C>T
  • NM_001408446.1:c.376C>T
  • NM_001408447.1:c.376C>T
  • NM_001408448.1:c.376C>T
  • NM_001408450.1:c.376C>T
  • NM_001408451.1:c.244C>T
  • NM_001408452.1:c.235C>T
  • NM_001408453.1:c.235C>T
  • NM_001408454.1:c.235C>T
  • NM_001408455.1:c.235C>T
  • NM_001408456.1:c.235C>T
  • NM_001408457.1:c.235C>T
  • NM_001408458.1:c.235C>T
  • NM_001408459.1:c.235C>T
  • NM_001408460.1:c.235C>T
  • NM_001408461.1:c.235C>T
  • NM_001408462.1:c.235C>T
  • NM_001408463.1:c.235C>T
  • NM_001408464.1:c.235C>T
  • NM_001408465.1:c.235C>T
  • NM_001408466.1:c.235C>T
  • NM_001408467.1:c.235C>T
  • NM_001408468.1:c.235C>T
  • NM_001408469.1:c.235C>T
  • NM_001408470.1:c.235C>T
  • NM_001408472.1:c.376C>T
  • NM_001408473.1:c.376C>T
  • NM_001408474.1:c.298C>T
  • NM_001408475.1:c.298C>T
  • NM_001408476.1:c.298C>T
  • NM_001408478.1:c.166C>T
  • NM_001408479.1:c.166C>T
  • NM_001408480.1:c.166C>T
  • NM_001408481.1:c.166C>T
  • NM_001408482.1:c.166C>T
  • NM_001408483.1:c.166C>T
  • NM_001408484.1:c.166C>T
  • NM_001408485.1:c.166C>T
  • NM_001408489.1:c.166C>T
  • NM_001408490.1:c.166C>T
  • NM_001408491.1:c.166C>T
  • NM_001408492.1:c.166C>T
  • NM_001408493.1:c.166C>T
  • NM_001408494.1:c.376C>T
  • NM_001408495.1:c.376C>T
  • NM_001408496.1:c.235C>T
  • NM_001408497.1:c.235C>T
  • NM_001408498.1:c.235C>T
  • NM_001408499.1:c.235C>T
  • NM_001408500.1:c.235C>T
  • NM_001408501.1:c.235C>T
  • NM_001408502.1:c.166C>T
  • NM_001408503.1:c.235C>T
  • NM_001408504.1:c.235C>T
  • NM_001408505.1:c.235C>T
  • NM_001408506.1:c.166C>T
  • NM_001408507.1:c.166C>T
  • NM_001408508.1:c.166C>T
  • NM_001408509.1:c.166C>T
  • NM_001408510.1:c.-6C>T
  • NM_001408511.1:c.235C>T
  • NM_001408512.1:c.-6C>T
  • NM_001408513.1:c.166C>T
  • NM_001408514.1:c.166C>T
  • NM_007294.4:c.376C>TMANE SELECT
  • NM_007297.4:c.235C>T
  • NM_007298.4:c.376C>T
  • NM_007299.4:c.376C>T
  • NM_007300.4:c.376C>T
  • NM_007304.2:c.376C>T
  • NP_001394500.1:p.Gln56Ter
  • NP_001394510.1:p.Gln126Ter
  • NP_001394511.1:p.Gln126Ter
  • NP_001394512.1:p.Gln126Ter
  • NP_001394514.1:p.Gln126Ter
  • NP_001394516.1:p.Gln126Ter
  • NP_001394519.1:p.Gln126Ter
  • NP_001394520.1:p.Gln126Ter
  • NP_001394522.1:p.Gln126Ter
  • NP_001394523.1:p.Gln126Ter
  • NP_001394525.1:p.Gln126Ter
  • NP_001394526.1:p.Gln126Ter
  • NP_001394527.1:p.Gln126Ter
  • NP_001394531.1:p.Gln126Ter
  • NP_001394532.1:p.Gln126Ter
  • NP_001394534.1:p.Gln126Ter
  • NP_001394539.1:p.Gln126Ter
  • NP_001394540.1:p.Gln126Ter
  • NP_001394541.1:p.Gln126Ter
  • NP_001394542.1:p.Gln126Ter
  • NP_001394543.1:p.Gln126Ter
  • NP_001394544.1:p.Gln126Ter
  • NP_001394545.1:p.Gln126Ter
  • NP_001394546.1:p.Gln126Ter
  • NP_001394547.1:p.Gln126Ter
  • NP_001394548.1:p.Gln126Ter
  • NP_001394549.1:p.Gln126Ter
  • NP_001394550.1:p.Gln126Ter
  • NP_001394551.1:p.Gln126Ter
  • NP_001394552.1:p.Gln126Ter
  • NP_001394553.1:p.Gln126Ter
  • NP_001394554.1:p.Gln126Ter
  • NP_001394555.1:p.Gln126Ter
  • NP_001394556.1:p.Gln126Ter
  • NP_001394557.1:p.Gln126Ter
  • NP_001394558.1:p.Gln126Ter
  • NP_001394559.1:p.Gln126Ter
  • NP_001394560.1:p.Gln126Ter
  • NP_001394561.1:p.Gln126Ter
  • NP_001394562.1:p.Gln126Ter
  • NP_001394563.1:p.Gln126Ter
  • NP_001394564.1:p.Gln126Ter
  • NP_001394565.1:p.Gln126Ter
  • NP_001394566.1:p.Gln126Ter
  • NP_001394567.1:p.Gln126Ter
  • NP_001394568.1:p.Gln126Ter
  • NP_001394569.1:p.Gln126Ter
  • NP_001394570.1:p.Gln126Ter
  • NP_001394571.1:p.Gln126Ter
  • NP_001394573.1:p.Gln126Ter
  • NP_001394574.1:p.Gln126Ter
  • NP_001394575.1:p.Gln123Ter
  • NP_001394576.1:p.Gln123Ter
  • NP_001394577.1:p.Gln126Ter
  • NP_001394578.1:p.Gln126Ter
  • NP_001394581.1:p.Gln126Ter
  • NP_001394582.1:p.Gln100Ter
  • NP_001394583.1:p.Gln100Ter
  • NP_001394584.1:p.Gln100Ter
  • NP_001394585.1:p.Gln100Ter
  • NP_001394586.1:p.Gln100Ter
  • NP_001394587.1:p.Gln100Ter
  • NP_001394588.1:p.Gln100Ter
  • NP_001394589.1:p.Gln100Ter
  • NP_001394590.1:p.Gln100Ter
  • NP_001394591.1:p.Gln100Ter
  • NP_001394592.1:p.Gln100Ter
  • NP_001394593.1:p.Gln126Ter
  • NP_001394594.1:p.Gln126Ter
  • NP_001394595.1:p.Gln126Ter
  • NP_001394596.1:p.Gln126Ter
  • NP_001394597.1:p.Gln126Ter
  • NP_001394598.1:p.Gln126Ter
  • NP_001394599.1:p.Gln126Ter
  • NP_001394600.1:p.Gln126Ter
  • NP_001394601.1:p.Gln126Ter
  • NP_001394602.1:p.Gln126Ter
  • NP_001394603.1:p.Gln126Ter
  • NP_001394604.1:p.Gln126Ter
  • NP_001394605.1:p.Gln126Ter
  • NP_001394606.1:p.Gln126Ter
  • NP_001394607.1:p.Gln126Ter
  • NP_001394608.1:p.Gln126Ter
  • NP_001394609.1:p.Gln126Ter
  • NP_001394610.1:p.Gln126Ter
  • NP_001394611.1:p.Gln126Ter
  • NP_001394612.1:p.Gln126Ter
  • NP_001394613.1:p.Gln126Ter
  • NP_001394614.1:p.Gln126Ter
  • NP_001394615.1:p.Gln126Ter
  • NP_001394616.1:p.Gln126Ter
  • NP_001394617.1:p.Gln126Ter
  • NP_001394618.1:p.Gln126Ter
  • NP_001394619.1:p.Gln126Ter
  • NP_001394620.1:p.Gln126Ter
  • NP_001394621.1:p.Gln79Ter
  • NP_001394623.1:p.Gln79Ter
  • NP_001394624.1:p.Gln79Ter
  • NP_001394625.1:p.Gln79Ter
  • NP_001394626.1:p.Gln79Ter
  • NP_001394627.1:p.Gln79Ter
  • NP_001394653.1:p.Gln79Ter
  • NP_001394654.1:p.Gln79Ter
  • NP_001394655.1:p.Gln79Ter
  • NP_001394656.1:p.Gln79Ter
  • NP_001394657.1:p.Gln79Ter
  • NP_001394658.1:p.Gln79Ter
  • NP_001394659.1:p.Gln79Ter
  • NP_001394660.1:p.Gln79Ter
  • NP_001394661.1:p.Gln79Ter
  • NP_001394662.1:p.Gln79Ter
  • NP_001394663.1:p.Gln79Ter
  • NP_001394664.1:p.Gln79Ter
  • NP_001394665.1:p.Gln79Ter
  • NP_001394666.1:p.Gln79Ter
  • NP_001394667.1:p.Gln79Ter
  • NP_001394668.1:p.Gln79Ter
  • NP_001394669.1:p.Gln79Ter
  • NP_001394670.1:p.Gln79Ter
  • NP_001394671.1:p.Gln79Ter
  • NP_001394672.1:p.Gln79Ter
  • NP_001394673.1:p.Gln79Ter
  • NP_001394674.1:p.Gln79Ter
  • NP_001394675.1:p.Gln79Ter
  • NP_001394676.1:p.Gln79Ter
  • NP_001394677.1:p.Gln79Ter
  • NP_001394678.1:p.Gln79Ter
  • NP_001394679.1:p.Gln79Ter
  • NP_001394680.1:p.Gln79Ter
  • NP_001394681.1:p.Gln79Ter
  • NP_001394767.1:p.Gln79Ter
  • NP_001394768.1:p.Gln79Ter
  • NP_001394770.1:p.Gln79Ter
  • NP_001394771.1:p.Gln79Ter
  • NP_001394772.1:p.Gln79Ter
  • NP_001394773.1:p.Gln79Ter
  • NP_001394774.1:p.Gln79Ter
  • NP_001394775.1:p.Gln79Ter
  • NP_001394776.1:p.Gln79Ter
  • NP_001394777.1:p.Gln79Ter
  • NP_001394778.1:p.Gln79Ter
  • NP_001394779.1:p.Gln79Ter
  • NP_001394780.1:p.Gln79Ter
  • NP_001394781.1:p.Gln79Ter
  • NP_001394782.1:p.Gln56Ter
  • NP_001394783.1:p.Gln126Ter
  • NP_001394787.1:p.Gln126Ter
  • NP_001394788.1:p.Gln126Ter
  • NP_001394789.1:p.Gln126Ter
  • NP_001394790.1:p.Gln126Ter
  • NP_001394791.1:p.Gln100Ter
  • NP_001394792.1:p.Gln126Ter
  • NP_001394803.1:p.Gln100Ter
  • NP_001394804.1:p.Gln100Ter
  • NP_001394808.1:p.Gln56Ter
  • NP_001394810.1:p.Gln56Ter
  • NP_001394811.1:p.Gln56Ter
  • NP_001394813.1:p.Gln56Ter
  • NP_001394814.1:p.Gln56Ter
  • NP_001394815.1:p.Gln56Ter
  • NP_001394816.1:p.Gln56Ter
  • NP_001394818.1:p.Gln56Ter
  • NP_001394823.1:p.Gln56Ter
  • NP_001394824.1:p.Gln56Ter
  • NP_001394825.1:p.Gln56Ter
  • NP_001394826.1:p.Gln56Ter
  • NP_001394827.1:p.Gln56Ter
  • NP_001394828.1:p.Gln56Ter
  • NP_001394829.1:p.Gln56Ter
  • NP_001394831.1:p.Gln56Ter
  • NP_001394833.1:p.Gln56Ter
  • NP_001394835.1:p.Gln56Ter
  • NP_001394836.1:p.Gln56Ter
  • NP_001394837.1:p.Gln56Ter
  • NP_001394838.1:p.Gln56Ter
  • NP_001394839.1:p.Gln56Ter
  • NP_001394844.1:p.Gln56Ter
  • NP_001394845.1:p.Gln56Ter
  • NP_001394846.1:p.Gln56Ter
  • NP_001394847.1:p.Gln56Ter
  • NP_001394848.1:p.Gln126Ter
  • NP_001394849.1:p.Gln79Ter
  • NP_001394850.1:p.Gln79Ter
  • NP_001394851.1:p.Gln79Ter
  • NP_001394852.1:p.Gln79Ter
  • NP_001394853.1:p.Gln79Ter
  • NP_001394854.1:p.Gln79Ter
  • NP_001394855.1:p.Gln79Ter
  • NP_001394856.1:p.Gln79Ter
  • NP_001394857.1:p.Gln79Ter
  • NP_001394858.1:p.Gln79Ter
  • NP_001394859.1:p.Gln79Ter
  • NP_001394860.1:p.Gln79Ter
  • NP_001394861.1:p.Gln79Ter
  • NP_001394862.1:p.Gln79Ter
  • NP_001394863.1:p.Gln79Ter
  • NP_001394864.1:p.Gln79Ter
  • NP_001394865.1:p.Gln79Ter
  • NP_001394866.1:p.Gln126Ter
  • NP_001394867.1:p.Gln126Ter
  • NP_001394868.1:p.Gln126Ter
  • NP_001394869.1:p.Gln126Ter
  • NP_001394870.1:p.Gln126Ter
  • NP_001394871.1:p.Gln79Ter
  • NP_001394872.1:p.Gln79Ter
  • NP_001394873.1:p.Gln79Ter
  • NP_001394874.1:p.Gln79Ter
  • NP_001394875.1:p.Gln56Ter
  • NP_001394876.1:p.Gln56Ter
  • NP_001394877.1:p.Gln56Ter
  • NP_001394878.1:p.Gln56Ter
  • NP_001394879.1:p.Gln56Ter
  • NP_001394880.1:p.Gln56Ter
  • NP_001394881.1:p.Gln56Ter
  • NP_001394882.1:p.Gln56Ter
  • NP_001394883.1:p.Gln56Ter
  • NP_001394884.1:p.Gln56Ter
  • NP_001394885.1:p.Gln56Ter
  • NP_001394886.1:p.Gln56Ter
  • NP_001394887.1:p.Gln56Ter
  • NP_001394893.1:p.Gln79Ter
  • NP_001394897.1:p.Gln126Ter
  • NP_001394898.1:p.Gln126Ter
  • NP_001394899.1:p.Gln126Ter
  • NP_001394900.1:p.Gln126Ter
  • NP_001394901.1:p.Gln126Ter
  • NP_001394902.1:p.Gln126Ter
  • NP_001394903.1:p.Gln126Ter
  • NP_001394904.1:p.Gln126Ter
  • NP_001394905.1:p.Gln126Ter
  • NP_001394906.1:p.Gln126Ter
  • NP_001394907.1:p.Gln126Ter
  • NP_001394908.1:p.Gln126Ter
  • NP_001394909.1:p.Gln126Ter
  • NP_001394910.1:p.Gln126Ter
  • NP_001394911.1:p.Gln126Ter
  • NP_001394912.1:p.Gln126Ter
  • NP_001394913.1:p.Gln126Ter
  • NP_001394914.1:p.Gln126Ter
  • NP_001394915.1:p.Gln126Ter
  • NP_001394919.1:p.Gln126Ter
  • NP_001394920.1:p.Gln126Ter
  • NP_001394921.1:p.Gln126Ter
  • NP_001394922.1:p.Gln126Ter
  • NP_001395321.1:p.Gln126Ter
  • NP_001395325.1:p.Gln126Ter
  • NP_001395326.1:p.Gln126Ter
  • NP_001395327.1:p.Gln126Ter
  • NP_001395328.1:p.Gln126Ter
  • NP_001395329.1:p.Gln126Ter
  • NP_001395330.1:p.Gln126Ter
  • NP_001395331.1:p.Gln126Ter
  • NP_001395332.1:p.Gln126Ter
  • NP_001395333.1:p.Gln126Ter
  • NP_001395335.1:p.Gln126Ter
  • NP_001395336.1:p.Gln126Ter
  • NP_001395337.1:p.Gln123Ter
  • NP_001395338.1:p.Gln100Ter
  • NP_001395339.1:p.Gln79Ter
  • NP_001395340.1:p.Gln100Ter
  • NP_001395341.1:p.Gln100Ter
  • NP_001395342.1:p.Gln100Ter
  • NP_001395343.1:p.Gln100Ter
  • NP_001395344.1:p.Gln100Ter
  • NP_001395345.1:p.Gln100Ter
  • NP_001395347.1:p.Gln126Ter
  • NP_001395348.1:p.Gln126Ter
  • NP_001395349.1:p.Gln126Ter
  • NP_001395350.1:p.Gln126Ter
  • NP_001395351.1:p.Gln126Ter
  • NP_001395352.1:p.Gln126Ter
  • NP_001395353.1:p.Gln126Ter
  • NP_001395354.1:p.Gln126Ter
  • NP_001395355.1:p.Gln126Ter
  • NP_001395356.1:p.Gln126Ter
  • NP_001395357.1:p.Gln126Ter
  • NP_001395358.1:p.Gln126Ter
  • NP_001395359.1:p.Gln126Ter
  • NP_001395360.1:p.Gln126Ter
  • NP_001395361.1:p.Gln126Ter
  • NP_001395362.1:p.Gln126Ter
  • NP_001395363.1:p.Gln126Ter
  • NP_001395364.1:p.Gln126Ter
  • NP_001395365.1:p.Gln126Ter
  • NP_001395366.1:p.Gln126Ter
  • NP_001395367.1:p.Gln126Ter
  • NP_001395368.1:p.Gln126Ter
  • NP_001395369.1:p.Gln126Ter
  • NP_001395370.1:p.Gln126Ter
  • NP_001395371.1:p.Gln126Ter
  • NP_001395372.1:p.Gln126Ter
  • NP_001395373.1:p.Gln126Ter
  • NP_001395374.1:p.Gln126Ter
  • NP_001395375.1:p.Gln126Ter
  • NP_001395376.1:p.Gln126Ter
  • NP_001395377.1:p.Gln126Ter
  • NP_001395379.1:p.Gln126Ter
  • NP_001395380.1:p.Gln82Ter
  • NP_001395381.1:p.Gln79Ter
  • NP_001395382.1:p.Gln79Ter
  • NP_001395383.1:p.Gln79Ter
  • NP_001395384.1:p.Gln79Ter
  • NP_001395385.1:p.Gln79Ter
  • NP_001395386.1:p.Gln79Ter
  • NP_001395387.1:p.Gln79Ter
  • NP_001395388.1:p.Gln79Ter
  • NP_001395389.1:p.Gln79Ter
  • NP_001395390.1:p.Gln79Ter
  • NP_001395391.1:p.Gln79Ter
  • NP_001395392.1:p.Gln79Ter
  • NP_001395393.1:p.Gln79Ter
  • NP_001395394.1:p.Gln79Ter
  • NP_001395395.1:p.Gln79Ter
  • NP_001395396.1:p.Gln79Ter
  • NP_001395397.1:p.Gln79Ter
  • NP_001395398.1:p.Gln79Ter
  • NP_001395399.1:p.Gln79Ter
  • NP_001395401.1:p.Gln126Ter
  • NP_001395402.1:p.Gln126Ter
  • NP_001395403.1:p.Gln100Ter
  • NP_001395404.1:p.Gln100Ter
  • NP_001395405.1:p.Gln100Ter
  • NP_001395407.1:p.Gln56Ter
  • NP_001395408.1:p.Gln56Ter
  • NP_001395409.1:p.Gln56Ter
  • NP_001395410.1:p.Gln56Ter
  • NP_001395411.1:p.Gln56Ter
  • NP_001395412.1:p.Gln56Ter
  • NP_001395413.1:p.Gln56Ter
  • NP_001395414.1:p.Gln56Ter
  • NP_001395418.1:p.Gln56Ter
  • NP_001395419.1:p.Gln56Ter
  • NP_001395420.1:p.Gln56Ter
  • NP_001395421.1:p.Gln56Ter
  • NP_001395422.1:p.Gln56Ter
  • NP_001395423.1:p.Gln126Ter
  • NP_001395424.1:p.Gln126Ter
  • NP_001395425.1:p.Gln79Ter
  • NP_001395426.1:p.Gln79Ter
  • NP_001395427.1:p.Gln79Ter
  • NP_001395428.1:p.Gln79Ter
  • NP_001395429.1:p.Gln79Ter
  • NP_001395430.1:p.Gln79Ter
  • NP_001395431.1:p.Gln56Ter
  • NP_001395432.1:p.Gln79Ter
  • NP_001395433.1:p.Gln79Ter
  • NP_001395434.1:p.Gln79Ter
  • NP_001395435.1:p.Gln56Ter
  • NP_001395436.1:p.Gln56Ter
  • NP_001395437.1:p.Gln56Ter
  • NP_001395438.1:p.Gln56Ter
  • NP_001395440.1:p.Gln79Ter
  • NP_001395442.1:p.Gln56Ter
  • NP_001395443.1:p.Gln56Ter
  • NP_009225.1:p.Gln126Ter
  • NP_009225.1:p.Gln126Ter
  • NP_009228.2:p.Gln79Ter
  • NP_009229.2:p.Gln126Ter
  • NP_009229.2:p.Gln126Ter
  • NP_009230.2:p.Gln126Ter
  • NP_009231.2:p.Gln126Ter
  • NP_009235.2:p.Gln126Ter
  • LRG_292t1:c.376C>T
  • LRG_292:g.113797C>T
  • LRG_292p1:p.Gln126Ter
  • NC_000017.10:g.41256204G>A
  • NM_007294.3:c.376C>T
  • NM_007298.3:c.376C>T
  • NR_027676.2:n.556C>T
  • p.(Gln126Ter)
Protein change:
Q100*
Links:
dbSNP: rs1085307902
NCBI 1000 Genomes Browser:
rs1085307902
Molecular consequence:
  • NR_027676.2:n.556C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001407571.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.367C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.367C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407970.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407971.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407972.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407973.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407974.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407975.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407976.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407977.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407978.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407979.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407980.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407981.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407982.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407983.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407984.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407985.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407986.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407990.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407991.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407992.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407993.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408392.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408396.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408397.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408398.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408399.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408400.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408401.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408402.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408403.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408404.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408406.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408407.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408408.1:c.367C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408409.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408410.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408411.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408412.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408413.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408414.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408415.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408416.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408418.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408419.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408420.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408421.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408422.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408423.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408424.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408425.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408426.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408427.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408428.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408429.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408430.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408431.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408432.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408433.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408434.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408435.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408436.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408437.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408438.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408439.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408440.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408441.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408442.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408443.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408444.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408445.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408446.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408447.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408448.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408450.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408451.1:c.244C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408452.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408453.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408454.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408455.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408456.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408457.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408458.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408459.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408460.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408461.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408462.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408463.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408464.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408465.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408466.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408467.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408468.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408469.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408470.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408472.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408473.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408474.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408475.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408476.1:c.298C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408478.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408479.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408480.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408481.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408482.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408483.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408484.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408485.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408489.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408490.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408491.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408492.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408493.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408494.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408495.1:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408496.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408497.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408498.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408499.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408500.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408501.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408502.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408503.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408504.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408505.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408506.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408507.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408508.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408509.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408511.1:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408513.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408514.1:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007298.4:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007299.4:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007304.2:c.376C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000577640GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 20, 2015) 		germlineclinical testing

Citation Link,

SCV002046298Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Oct 16, 2020) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.

Liang Y, Yang X, Li H, Zhu A, Guo Z, Li M.

Med Sci Monit. 2018 Apr 23;24:2465-2475.

PubMed [citation]
PMID:
29681614
PMCID:
PMC5936051

Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

Sun J, Meng H, Yao L, Lv M, Bai J, Zhang J, Wang L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.

Clin Cancer Res. 2017 Oct 15;23(20):6113-6119. doi: 10.1158/1078-0432.CCR-16-3227. Epub 2017 Jul 19.

PubMed [citation]
PMID:
28724667
See all PubMed Citations (4)

Details of each submission

From GeneDx, SCV000577640.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This pathogenic variant is denoted BRCA1 c.376C>T at the cDNA level and p.Gln126Ter (Q126X) at the protein level. The substitution, defined as BRCA1 495C>T using alternate nomenclature, creates a nonsense variant which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046298.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This nonsense variant causes the premature termination of BRCA1 protein synthesis. In addition, it has been reported in individuals affected with breast cancer in the published literature (PMIDs: 28724667 (2017) and 29681614 (2018)). This variant has not been reported in large, multi-ethnic general populations. Therefore, the variant is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024