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NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) AND Malignant tumor of breast

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001353667.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter)]

NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter)

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.505C>T (p.Gln169Ter)
HGVS:
  • NC_000017.11:g.43099817G>A
  • NG_005905.2:g.118167C>T
  • NM_001407571.1:c.292C>T
  • NM_001407581.1:c.505C>T
  • NM_001407582.1:c.505C>T
  • NM_001407583.1:c.505C>T
  • NM_001407585.1:c.505C>T
  • NM_001407587.1:c.502C>T
  • NM_001407590.1:c.502C>T
  • NM_001407591.1:c.502C>T
  • NM_001407593.1:c.505C>T
  • NM_001407594.1:c.505C>T
  • NM_001407596.1:c.505C>T
  • NM_001407597.1:c.505C>T
  • NM_001407598.1:c.505C>T
  • NM_001407602.1:c.505C>T
  • NM_001407603.1:c.505C>T
  • NM_001407605.1:c.505C>T
  • NM_001407610.1:c.502C>T
  • NM_001407611.1:c.502C>T
  • NM_001407612.1:c.502C>T
  • NM_001407613.1:c.502C>T
  • NM_001407614.1:c.502C>T
  • NM_001407615.1:c.502C>T
  • NM_001407616.1:c.505C>T
  • NM_001407617.1:c.505C>T
  • NM_001407618.1:c.505C>T
  • NM_001407619.1:c.505C>T
  • NM_001407620.1:c.505C>T
  • NM_001407621.1:c.505C>T
  • NM_001407622.1:c.505C>T
  • NM_001407623.1:c.505C>T
  • NM_001407624.1:c.505C>T
  • NM_001407625.1:c.505C>T
  • NM_001407626.1:c.505C>T
  • NM_001407627.1:c.502C>T
  • NM_001407628.1:c.502C>T
  • NM_001407629.1:c.502C>T
  • NM_001407630.1:c.502C>T
  • NM_001407631.1:c.502C>T
  • NM_001407632.1:c.502C>T
  • NM_001407633.1:c.502C>T
  • NM_001407634.1:c.502C>T
  • NM_001407635.1:c.502C>T
  • NM_001407636.1:c.502C>T
  • NM_001407637.1:c.502C>T
  • NM_001407638.1:c.502C>T
  • NM_001407639.1:c.505C>T
  • NM_001407640.1:c.505C>T
  • NM_001407641.1:c.505C>T
  • NM_001407642.1:c.505C>T
  • NM_001407644.1:c.502C>T
  • NM_001407645.1:c.502C>T
  • NM_001407646.1:c.496C>T
  • NM_001407647.1:c.496C>T
  • NM_001407648.1:c.505C>T
  • NM_001407649.1:c.502C>T
  • NM_001407652.1:c.505C>T
  • NM_001407653.1:c.427C>T
  • NM_001407654.1:c.427C>T
  • NM_001407655.1:c.427C>T
  • NM_001407656.1:c.427C>T
  • NM_001407657.1:c.427C>T
  • NM_001407658.1:c.427C>T
  • NM_001407659.1:c.424C>T
  • NM_001407660.1:c.424C>T
  • NM_001407661.1:c.424C>T
  • NM_001407662.1:c.424C>T
  • NM_001407663.1:c.427C>T
  • NM_001407664.1:c.505C>T
  • NM_001407665.1:c.505C>T
  • NM_001407666.1:c.505C>T
  • NM_001407667.1:c.505C>T
  • NM_001407668.1:c.505C>T
  • NM_001407669.1:c.505C>T
  • NM_001407670.1:c.502C>T
  • NM_001407671.1:c.502C>T
  • NM_001407672.1:c.502C>T
  • NM_001407673.1:c.502C>T
  • NM_001407674.1:c.505C>T
  • NM_001407675.1:c.505C>T
  • NM_001407676.1:c.505C>T
  • NM_001407677.1:c.505C>T
  • NM_001407678.1:c.505C>T
  • NM_001407679.1:c.505C>T
  • NM_001407680.1:c.505C>T
  • NM_001407681.1:c.505C>T
  • NM_001407682.1:c.505C>T
  • NM_001407683.1:c.505C>T
  • NM_001407684.1:c.505C>T
  • NM_001407685.1:c.502C>T
  • NM_001407686.1:c.502C>T
  • NM_001407687.1:c.502C>T
  • NM_001407688.1:c.502C>T
  • NM_001407689.1:c.502C>T
  • NM_001407690.1:c.502C>T
  • NM_001407691.1:c.502C>T
  • NM_001407692.1:c.364C>T
  • NM_001407694.1:c.364C>T
  • NM_001407695.1:c.364C>T
  • NM_001407696.1:c.364C>T
  • NM_001407697.1:c.364C>T
  • NM_001407698.1:c.364C>T
  • NM_001407724.1:c.364C>T
  • NM_001407725.1:c.364C>T
  • NM_001407726.1:c.364C>T
  • NM_001407727.1:c.364C>T
  • NM_001407728.1:c.364C>T
  • NM_001407729.1:c.364C>T
  • NM_001407730.1:c.364C>T
  • NM_001407731.1:c.364C>T
  • NM_001407732.1:c.364C>T
  • NM_001407733.1:c.364C>T
  • NM_001407734.1:c.364C>T
  • NM_001407735.1:c.364C>T
  • NM_001407736.1:c.364C>T
  • NM_001407737.1:c.364C>T
  • NM_001407738.1:c.364C>T
  • NM_001407739.1:c.364C>T
  • NM_001407740.1:c.361C>T
  • NM_001407741.1:c.361C>T
  • NM_001407742.1:c.361C>T
  • NM_001407743.1:c.361C>T
  • NM_001407744.1:c.361C>T
  • NM_001407745.1:c.361C>T
  • NM_001407746.1:c.361C>T
  • NM_001407747.1:c.361C>T
  • NM_001407748.1:c.361C>T
  • NM_001407749.1:c.361C>T
  • NM_001407750.1:c.364C>T
  • NM_001407751.1:c.364C>T
  • NM_001407752.1:c.364C>T
  • NM_001407838.1:c.361C>T
  • NM_001407839.1:c.361C>T
  • NM_001407841.1:c.361C>T
  • NM_001407842.1:c.361C>T
  • NM_001407843.1:c.361C>T
  • NM_001407844.1:c.361C>T
  • NM_001407845.1:c.361C>T
  • NM_001407846.1:c.361C>T
  • NM_001407847.1:c.361C>T
  • NM_001407848.1:c.361C>T
  • NM_001407849.1:c.361C>T
  • NM_001407850.1:c.364C>T
  • NM_001407851.1:c.364C>T
  • NM_001407852.1:c.364C>T
  • NM_001407853.1:c.292C>T
  • NM_001407854.1:c.505C>T
  • NM_001407858.1:c.505C>T
  • NM_001407859.1:c.505C>T
  • NM_001407860.1:c.502C>T
  • NM_001407861.1:c.502C>T
  • NM_001407862.1:c.427C>T
  • NM_001407863.1:c.505C>T
  • NM_001407874.1:c.424C>T
  • NM_001407875.1:c.424C>T
  • NM_001407879.1:c.295C>T
  • NM_001407881.1:c.295C>T
  • NM_001407882.1:c.295C>T
  • NM_001407884.1:c.295C>T
  • NM_001407885.1:c.295C>T
  • NM_001407886.1:c.295C>T
  • NM_001407887.1:c.295C>T
  • NM_001407889.1:c.295C>T
  • NM_001407894.1:c.292C>T
  • NM_001407895.1:c.292C>T
  • NM_001407896.1:c.292C>T
  • NM_001407897.1:c.292C>T
  • NM_001407898.1:c.292C>T
  • NM_001407899.1:c.292C>T
  • NM_001407900.1:c.295C>T
  • NM_001407902.1:c.295C>T
  • NM_001407904.1:c.295C>T
  • NM_001407906.1:c.295C>T
  • NM_001407907.1:c.295C>T
  • NM_001407908.1:c.295C>T
  • NM_001407909.1:c.295C>T
  • NM_001407910.1:c.295C>T
  • NM_001407915.1:c.292C>T
  • NM_001407916.1:c.292C>T
  • NM_001407917.1:c.292C>T
  • NM_001407918.1:c.292C>T
  • NM_001407919.1:c.505C>T
  • NM_001407920.1:c.364C>T
  • NM_001407921.1:c.364C>T
  • NM_001407922.1:c.364C>T
  • NM_001407923.1:c.364C>T
  • NM_001407924.1:c.364C>T
  • NM_001407925.1:c.364C>T
  • NM_001407926.1:c.364C>T
  • NM_001407927.1:c.364C>T
  • NM_001407928.1:c.364C>T
  • NM_001407929.1:c.364C>T
  • NM_001407930.1:c.361C>T
  • NM_001407931.1:c.361C>T
  • NM_001407932.1:c.361C>T
  • NM_001407933.1:c.364C>T
  • NM_001407934.1:c.361C>T
  • NM_001407935.1:c.364C>T
  • NM_001407936.1:c.361C>T
  • NM_001407937.1:c.505C>T
  • NM_001407938.1:c.505C>T
  • NM_001407939.1:c.505C>T
  • NM_001407940.1:c.502C>T
  • NM_001407941.1:c.502C>T
  • NM_001407942.1:c.364C>T
  • NM_001407943.1:c.361C>T
  • NM_001407944.1:c.364C>T
  • NM_001407945.1:c.364C>T
  • NM_001407946.1:c.295C>T
  • NM_001407947.1:c.295C>T
  • NM_001407948.1:c.295C>T
  • NM_001407949.1:c.295C>T
  • NM_001407950.1:c.295C>T
  • NM_001407951.1:c.295C>T
  • NM_001407952.1:c.295C>T
  • NM_001407953.1:c.295C>T
  • NM_001407954.1:c.292C>T
  • NM_001407955.1:c.292C>T
  • NM_001407956.1:c.292C>T
  • NM_001407957.1:c.295C>T
  • NM_001407958.1:c.292C>T
  • NM_001407959.1:c.124C>T
  • NM_001407960.1:c.124C>T
  • NM_001407962.1:c.121C>T
  • NM_001407963.1:c.124C>T
  • NM_001407964.1:c.361C>T
  • NM_001407965.1:c.124C>T
  • NM_001407968.1:c.505C>T
  • NM_001407969.1:c.505C>T
  • NM_001407970.1:c.505C>T
  • NM_001407971.1:c.505C>T
  • NM_001407972.1:c.502C>T
  • NM_001407973.1:c.505C>T
  • NM_001407974.1:c.505C>T
  • NM_001407975.1:c.505C>T
  • NM_001407976.1:c.505C>T
  • NM_001407977.1:c.505C>T
  • NM_001407978.1:c.505C>T
  • NM_001407979.1:c.505C>T
  • NM_001407980.1:c.505C>T
  • NM_001407981.1:c.505C>T
  • NM_001407982.1:c.505C>T
  • NM_001407983.1:c.505C>T
  • NM_001407984.1:c.502C>T
  • NM_001407985.1:c.502C>T
  • NM_001407986.1:c.502C>T
  • NM_001407990.1:c.505C>T
  • NM_001407991.1:c.502C>T
  • NM_001407992.1:c.502C>T
  • NM_001407993.1:c.505C>T
  • NM_001408392.1:c.502C>T
  • NM_001408396.1:c.502C>T
  • NM_001408397.1:c.502C>T
  • NM_001408398.1:c.502C>T
  • NM_001408399.1:c.502C>T
  • NM_001408400.1:c.502C>T
  • NM_001408401.1:c.502C>T
  • NM_001408402.1:c.502C>T
  • NM_001408403.1:c.505C>T
  • NM_001408404.1:c.505C>T
  • NM_001408406.1:c.505C>T
  • NM_001408407.1:c.502C>T
  • NM_001408408.1:c.496C>T
  • NM_001408409.1:c.427C>T
  • NM_001408410.1:c.364C>T
  • NM_001408411.1:c.427C>T
  • NM_001408412.1:c.427C>T
  • NM_001408413.1:c.424C>T
  • NM_001408414.1:c.427C>T
  • NM_001408415.1:c.427C>T
  • NM_001408416.1:c.424C>T
  • NM_001408418.1:c.505C>T
  • NM_001408419.1:c.505C>T
  • NM_001408420.1:c.505C>T
  • NM_001408421.1:c.502C>T
  • NM_001408422.1:c.505C>T
  • NM_001408423.1:c.505C>T
  • NM_001408424.1:c.502C>T
  • NM_001408425.1:c.505C>T
  • NM_001408426.1:c.505C>T
  • NM_001408427.1:c.505C>T
  • NM_001408428.1:c.505C>T
  • NM_001408429.1:c.505C>T
  • NM_001408430.1:c.505C>T
  • NM_001408431.1:c.502C>T
  • NM_001408432.1:c.502C>T
  • NM_001408433.1:c.502C>T
  • NM_001408434.1:c.502C>T
  • NM_001408435.1:c.502C>T
  • NM_001408436.1:c.505C>T
  • NM_001408437.1:c.505C>T
  • NM_001408438.1:c.505C>T
  • NM_001408439.1:c.505C>T
  • NM_001408440.1:c.505C>T
  • NM_001408441.1:c.505C>T
  • NM_001408442.1:c.505C>T
  • NM_001408443.1:c.505C>T
  • NM_001408444.1:c.505C>T
  • NM_001408445.1:c.502C>T
  • NM_001408446.1:c.502C>T
  • NM_001408447.1:c.502C>T
  • NM_001408448.1:c.502C>T
  • NM_001408450.1:c.502C>T
  • NM_001408451.1:c.370C>T
  • NM_001408452.1:c.364C>T
  • NM_001408453.1:c.364C>T
  • NM_001408454.1:c.364C>T
  • NM_001408455.1:c.364C>T
  • NM_001408456.1:c.364C>T
  • NM_001408457.1:c.364C>T
  • NM_001408458.1:c.364C>T
  • NM_001408459.1:c.364C>T
  • NM_001408460.1:c.364C>T
  • NM_001408461.1:c.364C>T
  • NM_001408462.1:c.361C>T
  • NM_001408463.1:c.361C>T
  • NM_001408464.1:c.361C>T
  • NM_001408465.1:c.361C>T
  • NM_001408466.1:c.364C>T
  • NM_001408467.1:c.364C>T
  • NM_001408468.1:c.361C>T
  • NM_001408469.1:c.364C>T
  • NM_001408470.1:c.361C>T
  • NM_001408472.1:c.505C>T
  • NM_001408473.1:c.502C>T
  • NM_001408474.1:c.427C>T
  • NM_001408475.1:c.424C>T
  • NM_001408476.1:c.427C>T
  • NM_001408478.1:c.295C>T
  • NM_001408479.1:c.295C>T
  • NM_001408480.1:c.295C>T
  • NM_001408481.1:c.295C>T
  • NM_001408482.1:c.295C>T
  • NM_001408483.1:c.295C>T
  • NM_001408484.1:c.295C>T
  • NM_001408485.1:c.295C>T
  • NM_001408489.1:c.295C>T
  • NM_001408490.1:c.292C>T
  • NM_001408491.1:c.292C>T
  • NM_001408492.1:c.295C>T
  • NM_001408493.1:c.292C>T
  • NM_001408494.1:c.505C>T
  • NM_001408495.1:c.502C>T
  • NM_001408496.1:c.364C>T
  • NM_001408497.1:c.364C>T
  • NM_001408498.1:c.364C>T
  • NM_001408499.1:c.364C>T
  • NM_001408500.1:c.364C>T
  • NM_001408501.1:c.364C>T
  • NM_001408502.1:c.295C>T
  • NM_001408503.1:c.361C>T
  • NM_001408504.1:c.361C>T
  • NM_001408505.1:c.361C>T
  • NM_001408506.1:c.295C>T
  • NM_001408507.1:c.295C>T
  • NM_001408508.1:c.292C>T
  • NM_001408509.1:c.292C>T
  • NM_001408510.1:c.124C>T
  • NM_001408511.1:c.361C>T
  • NM_001408512.1:c.124C>T
  • NM_001408513.1:c.295C>T
  • NM_001408514.1:c.295C>T
  • NM_007294.4:c.505C>TMANE SELECT
  • NM_007297.4:c.364C>T
  • NM_007298.4:c.505C>T
  • NM_007299.4:c.505C>T
  • NM_007300.4:c.505C>T
  • NM_007304.2:c.505C>T
  • NP_001394500.1:p.Gln98Ter
  • NP_001394510.1:p.Gln169Ter
  • NP_001394511.1:p.Gln169Ter
  • NP_001394512.1:p.Gln169Ter
  • NP_001394514.1:p.Gln169Ter
  • NP_001394516.1:p.Gln168Ter
  • NP_001394519.1:p.Gln168Ter
  • NP_001394520.1:p.Gln168Ter
  • NP_001394522.1:p.Gln169Ter
  • NP_001394523.1:p.Gln169Ter
  • NP_001394525.1:p.Gln169Ter
  • NP_001394526.1:p.Gln169Ter
  • NP_001394527.1:p.Gln169Ter
  • NP_001394531.1:p.Gln169Ter
  • NP_001394532.1:p.Gln169Ter
  • NP_001394534.1:p.Gln169Ter
  • NP_001394539.1:p.Gln168Ter
  • NP_001394540.1:p.Gln168Ter
  • NP_001394541.1:p.Gln168Ter
  • NP_001394542.1:p.Gln168Ter
  • NP_001394543.1:p.Gln168Ter
  • NP_001394544.1:p.Gln168Ter
  • NP_001394545.1:p.Gln169Ter
  • NP_001394546.1:p.Gln169Ter
  • NP_001394547.1:p.Gln169Ter
  • NP_001394548.1:p.Gln169Ter
  • NP_001394549.1:p.Gln169Ter
  • NP_001394550.1:p.Gln169Ter
  • NP_001394551.1:p.Gln169Ter
  • NP_001394552.1:p.Gln169Ter
  • NP_001394553.1:p.Gln169Ter
  • NP_001394554.1:p.Gln169Ter
  • NP_001394555.1:p.Gln169Ter
  • NP_001394556.1:p.Gln168Ter
  • NP_001394557.1:p.Gln168Ter
  • NP_001394558.1:p.Gln168Ter
  • NP_001394559.1:p.Gln168Ter
  • NP_001394560.1:p.Gln168Ter
  • NP_001394561.1:p.Gln168Ter
  • NP_001394562.1:p.Gln168Ter
  • NP_001394563.1:p.Gln168Ter
  • NP_001394564.1:p.Gln168Ter
  • NP_001394565.1:p.Gln168Ter
  • NP_001394566.1:p.Gln168Ter
  • NP_001394567.1:p.Gln168Ter
  • NP_001394568.1:p.Gln169Ter
  • NP_001394569.1:p.Gln169Ter
  • NP_001394570.1:p.Gln169Ter
  • NP_001394571.1:p.Gln169Ter
  • NP_001394573.1:p.Gln168Ter
  • NP_001394574.1:p.Gln168Ter
  • NP_001394575.1:p.Gln166Ter
  • NP_001394576.1:p.Gln166Ter
  • NP_001394577.1:p.Gln169Ter
  • NP_001394578.1:p.Gln168Ter
  • NP_001394581.1:p.Gln169Ter
  • NP_001394582.1:p.Gln143Ter
  • NP_001394583.1:p.Gln143Ter
  • NP_001394584.1:p.Gln143Ter
  • NP_001394585.1:p.Gln143Ter
  • NP_001394586.1:p.Gln143Ter
  • NP_001394587.1:p.Gln143Ter
  • NP_001394588.1:p.Gln142Ter
  • NP_001394589.1:p.Gln142Ter
  • NP_001394590.1:p.Gln142Ter
  • NP_001394591.1:p.Gln142Ter
  • NP_001394592.1:p.Gln143Ter
  • NP_001394593.1:p.Gln169Ter
  • NP_001394594.1:p.Gln169Ter
  • NP_001394595.1:p.Gln169Ter
  • NP_001394596.1:p.Gln169Ter
  • NP_001394597.1:p.Gln169Ter
  • NP_001394598.1:p.Gln169Ter
  • NP_001394599.1:p.Gln168Ter
  • NP_001394600.1:p.Gln168Ter
  • NP_001394601.1:p.Gln168Ter
  • NP_001394602.1:p.Gln168Ter
  • NP_001394603.1:p.Gln169Ter
  • NP_001394604.1:p.Gln169Ter
  • NP_001394605.1:p.Gln169Ter
  • NP_001394606.1:p.Gln169Ter
  • NP_001394607.1:p.Gln169Ter
  • NP_001394608.1:p.Gln169Ter
  • NP_001394609.1:p.Gln169Ter
  • NP_001394610.1:p.Gln169Ter
  • NP_001394611.1:p.Gln169Ter
  • NP_001394612.1:p.Gln169Ter
  • NP_001394613.1:p.Gln169Ter
  • NP_001394614.1:p.Gln168Ter
  • NP_001394615.1:p.Gln168Ter
  • NP_001394616.1:p.Gln168Ter
  • NP_001394617.1:p.Gln168Ter
  • NP_001394618.1:p.Gln168Ter
  • NP_001394619.1:p.Gln168Ter
  • NP_001394620.1:p.Gln168Ter
  • NP_001394621.1:p.Gln122Ter
  • NP_001394623.1:p.Gln122Ter
  • NP_001394624.1:p.Gln122Ter
  • NP_001394625.1:p.Gln122Ter
  • NP_001394626.1:p.Gln122Ter
  • NP_001394627.1:p.Gln122Ter
  • NP_001394653.1:p.Gln122Ter
  • NP_001394654.1:p.Gln122Ter
  • NP_001394655.1:p.Gln122Ter
  • NP_001394656.1:p.Gln122Ter
  • NP_001394657.1:p.Gln122Ter
  • NP_001394658.1:p.Gln122Ter
  • NP_001394659.1:p.Gln122Ter
  • NP_001394660.1:p.Gln122Ter
  • NP_001394661.1:p.Gln122Ter
  • NP_001394662.1:p.Gln122Ter
  • NP_001394663.1:p.Gln122Ter
  • NP_001394664.1:p.Gln122Ter
  • NP_001394665.1:p.Gln122Ter
  • NP_001394666.1:p.Gln122Ter
  • NP_001394667.1:p.Gln122Ter
  • NP_001394668.1:p.Gln122Ter
  • NP_001394669.1:p.Gln121Ter
  • NP_001394670.1:p.Gln121Ter
  • NP_001394671.1:p.Gln121Ter
  • NP_001394672.1:p.Gln121Ter
  • NP_001394673.1:p.Gln121Ter
  • NP_001394674.1:p.Gln121Ter
  • NP_001394675.1:p.Gln121Ter
  • NP_001394676.1:p.Gln121Ter
  • NP_001394677.1:p.Gln121Ter
  • NP_001394678.1:p.Gln121Ter
  • NP_001394679.1:p.Gln122Ter
  • NP_001394680.1:p.Gln122Ter
  • NP_001394681.1:p.Gln122Ter
  • NP_001394767.1:p.Gln121Ter
  • NP_001394768.1:p.Gln121Ter
  • NP_001394770.1:p.Gln121Ter
  • NP_001394771.1:p.Gln121Ter
  • NP_001394772.1:p.Gln121Ter
  • NP_001394773.1:p.Gln121Ter
  • NP_001394774.1:p.Gln121Ter
  • NP_001394775.1:p.Gln121Ter
  • NP_001394776.1:p.Gln121Ter
  • NP_001394777.1:p.Gln121Ter
  • NP_001394778.1:p.Gln121Ter
  • NP_001394779.1:p.Gln122Ter
  • NP_001394780.1:p.Gln122Ter
  • NP_001394781.1:p.Gln122Ter
  • NP_001394782.1:p.Gln98Ter
  • NP_001394783.1:p.Gln169Ter
  • NP_001394787.1:p.Gln169Ter
  • NP_001394788.1:p.Gln169Ter
  • NP_001394789.1:p.Gln168Ter
  • NP_001394790.1:p.Gln168Ter
  • NP_001394791.1:p.Gln143Ter
  • NP_001394792.1:p.Gln169Ter
  • NP_001394803.1:p.Gln142Ter
  • NP_001394804.1:p.Gln142Ter
  • NP_001394808.1:p.Gln99Ter
  • NP_001394810.1:p.Gln99Ter
  • NP_001394811.1:p.Gln99Ter
  • NP_001394813.1:p.Gln99Ter
  • NP_001394814.1:p.Gln99Ter
  • NP_001394815.1:p.Gln99Ter
  • NP_001394816.1:p.Gln99Ter
  • NP_001394818.1:p.Gln99Ter
  • NP_001394823.1:p.Gln98Ter
  • NP_001394824.1:p.Gln98Ter
  • NP_001394825.1:p.Gln98Ter
  • NP_001394826.1:p.Gln98Ter
  • NP_001394827.1:p.Gln98Ter
  • NP_001394828.1:p.Gln98Ter
  • NP_001394829.1:p.Gln99Ter
  • NP_001394831.1:p.Gln99Ter
  • NP_001394833.1:p.Gln99Ter
  • NP_001394835.1:p.Gln99Ter
  • NP_001394836.1:p.Gln99Ter
  • NP_001394837.1:p.Gln99Ter
  • NP_001394838.1:p.Gln99Ter
  • NP_001394839.1:p.Gln99Ter
  • NP_001394844.1:p.Gln98Ter
  • NP_001394845.1:p.Gln98Ter
  • NP_001394846.1:p.Gln98Ter
  • NP_001394847.1:p.Gln98Ter
  • NP_001394848.1:p.Gln169Ter
  • NP_001394849.1:p.Gln122Ter
  • NP_001394850.1:p.Gln122Ter
  • NP_001394851.1:p.Gln122Ter
  • NP_001394852.1:p.Gln122Ter
  • NP_001394853.1:p.Gln122Ter
  • NP_001394854.1:p.Gln122Ter
  • NP_001394855.1:p.Gln122Ter
  • NP_001394856.1:p.Gln122Ter
  • NP_001394857.1:p.Gln122Ter
  • NP_001394858.1:p.Gln122Ter
  • NP_001394859.1:p.Gln121Ter
  • NP_001394860.1:p.Gln121Ter
  • NP_001394861.1:p.Gln121Ter
  • NP_001394862.1:p.Gln122Ter
  • NP_001394863.1:p.Gln121Ter
  • NP_001394864.1:p.Gln122Ter
  • NP_001394865.1:p.Gln121Ter
  • NP_001394866.1:p.Gln169Ter
  • NP_001394867.1:p.Gln169Ter
  • NP_001394868.1:p.Gln169Ter
  • NP_001394869.1:p.Gln168Ter
  • NP_001394870.1:p.Gln168Ter
  • NP_001394871.1:p.Gln122Ter
  • NP_001394872.1:p.Gln121Ter
  • NP_001394873.1:p.Gln122Ter
  • NP_001394874.1:p.Gln122Ter
  • NP_001394875.1:p.Gln99Ter
  • NP_001394876.1:p.Gln99Ter
  • NP_001394877.1:p.Gln99Ter
  • NP_001394878.1:p.Gln99Ter
  • NP_001394879.1:p.Gln99Ter
  • NP_001394880.1:p.Gln99Ter
  • NP_001394881.1:p.Gln99Ter
  • NP_001394882.1:p.Gln99Ter
  • NP_001394883.1:p.Gln98Ter
  • NP_001394884.1:p.Gln98Ter
  • NP_001394885.1:p.Gln98Ter
  • NP_001394886.1:p.Gln99Ter
  • NP_001394887.1:p.Gln98Ter
  • NP_001394888.1:p.Gln42Ter
  • NP_001394889.1:p.Gln42Ter
  • NP_001394891.1:p.Gln41Ter
  • NP_001394892.1:p.Gln42Ter
  • NP_001394893.1:p.Gln121Ter
  • NP_001394894.1:p.Gln42Ter
  • NP_001394897.1:p.Gln169Ter
  • NP_001394898.1:p.Gln169Ter
  • NP_001394899.1:p.Gln169Ter
  • NP_001394900.1:p.Gln169Ter
  • NP_001394901.1:p.Gln168Ter
  • NP_001394902.1:p.Gln169Ter
  • NP_001394903.1:p.Gln169Ter
  • NP_001394904.1:p.Gln169Ter
  • NP_001394905.1:p.Gln169Ter
  • NP_001394906.1:p.Gln169Ter
  • NP_001394907.1:p.Gln169Ter
  • NP_001394908.1:p.Gln169Ter
  • NP_001394909.1:p.Gln169Ter
  • NP_001394910.1:p.Gln169Ter
  • NP_001394911.1:p.Gln169Ter
  • NP_001394912.1:p.Gln169Ter
  • NP_001394913.1:p.Gln168Ter
  • NP_001394914.1:p.Gln168Ter
  • NP_001394915.1:p.Gln168Ter
  • NP_001394919.1:p.Gln169Ter
  • NP_001394920.1:p.Gln168Ter
  • NP_001394921.1:p.Gln168Ter
  • NP_001394922.1:p.Gln169Ter
  • NP_001395321.1:p.Gln168Ter
  • NP_001395325.1:p.Gln168Ter
  • NP_001395326.1:p.Gln168Ter
  • NP_001395327.1:p.Gln168Ter
  • NP_001395328.1:p.Gln168Ter
  • NP_001395329.1:p.Gln168Ter
  • NP_001395330.1:p.Gln168Ter
  • NP_001395331.1:p.Gln168Ter
  • NP_001395332.1:p.Gln169Ter
  • NP_001395333.1:p.Gln169Ter
  • NP_001395335.1:p.Gln169Ter
  • NP_001395336.1:p.Gln168Ter
  • NP_001395337.1:p.Gln166Ter
  • NP_001395338.1:p.Gln143Ter
  • NP_001395339.1:p.Gln122Ter
  • NP_001395340.1:p.Gln143Ter
  • NP_001395341.1:p.Gln143Ter
  • NP_001395342.1:p.Gln142Ter
  • NP_001395343.1:p.Gln143Ter
  • NP_001395344.1:p.Gln143Ter
  • NP_001395345.1:p.Gln142Ter
  • NP_001395347.1:p.Gln169Ter
  • NP_001395348.1:p.Gln169Ter
  • NP_001395349.1:p.Gln169Ter
  • NP_001395350.1:p.Gln168Ter
  • NP_001395351.1:p.Gln169Ter
  • NP_001395352.1:p.Gln169Ter
  • NP_001395353.1:p.Gln168Ter
  • NP_001395354.1:p.Gln169Ter
  • NP_001395355.1:p.Gln169Ter
  • NP_001395356.1:p.Gln169Ter
  • NP_001395357.1:p.Gln169Ter
  • NP_001395358.1:p.Gln169Ter
  • NP_001395359.1:p.Gln169Ter
  • NP_001395360.1:p.Gln168Ter
  • NP_001395361.1:p.Gln168Ter
  • NP_001395362.1:p.Gln168Ter
  • NP_001395363.1:p.Gln168Ter
  • NP_001395364.1:p.Gln168Ter
  • NP_001395365.1:p.Gln169Ter
  • NP_001395366.1:p.Gln169Ter
  • NP_001395367.1:p.Gln169Ter
  • NP_001395368.1:p.Gln169Ter
  • NP_001395369.1:p.Gln169Ter
  • NP_001395370.1:p.Gln169Ter
  • NP_001395371.1:p.Gln169Ter
  • NP_001395372.1:p.Gln169Ter
  • NP_001395373.1:p.Gln169Ter
  • NP_001395374.1:p.Gln168Ter
  • NP_001395375.1:p.Gln168Ter
  • NP_001395376.1:p.Gln168Ter
  • NP_001395377.1:p.Gln168Ter
  • NP_001395379.1:p.Gln168Ter
  • NP_001395380.1:p.Gln124Ter
  • NP_001395381.1:p.Gln122Ter
  • NP_001395382.1:p.Gln122Ter
  • NP_001395383.1:p.Gln122Ter
  • NP_001395384.1:p.Gln122Ter
  • NP_001395385.1:p.Gln122Ter
  • NP_001395386.1:p.Gln122Ter
  • NP_001395387.1:p.Gln122Ter
  • NP_001395388.1:p.Gln122Ter
  • NP_001395389.1:p.Gln122Ter
  • NP_001395390.1:p.Gln122Ter
  • NP_001395391.1:p.Gln121Ter
  • NP_001395392.1:p.Gln121Ter
  • NP_001395393.1:p.Gln121Ter
  • NP_001395394.1:p.Gln121Ter
  • NP_001395395.1:p.Gln122Ter
  • NP_001395396.1:p.Gln122Ter
  • NP_001395397.1:p.Gln121Ter
  • NP_001395398.1:p.Gln122Ter
  • NP_001395399.1:p.Gln121Ter
  • NP_001395401.1:p.Gln169Ter
  • NP_001395402.1:p.Gln168Ter
  • NP_001395403.1:p.Gln143Ter
  • NP_001395404.1:p.Gln142Ter
  • NP_001395405.1:p.Gln143Ter
  • NP_001395407.1:p.Gln99Ter
  • NP_001395408.1:p.Gln99Ter
  • NP_001395409.1:p.Gln99Ter
  • NP_001395410.1:p.Gln99Ter
  • NP_001395411.1:p.Gln99Ter
  • NP_001395412.1:p.Gln99Ter
  • NP_001395413.1:p.Gln99Ter
  • NP_001395414.1:p.Gln99Ter
  • NP_001395418.1:p.Gln99Ter
  • NP_001395419.1:p.Gln98Ter
  • NP_001395420.1:p.Gln98Ter
  • NP_001395421.1:p.Gln99Ter
  • NP_001395422.1:p.Gln98Ter
  • NP_001395423.1:p.Gln169Ter
  • NP_001395424.1:p.Gln168Ter
  • NP_001395425.1:p.Gln122Ter
  • NP_001395426.1:p.Gln122Ter
  • NP_001395427.1:p.Gln122Ter
  • NP_001395428.1:p.Gln122Ter
  • NP_001395429.1:p.Gln122Ter
  • NP_001395430.1:p.Gln122Ter
  • NP_001395431.1:p.Gln99Ter
  • NP_001395432.1:p.Gln121Ter
  • NP_001395433.1:p.Gln121Ter
  • NP_001395434.1:p.Gln121Ter
  • NP_001395435.1:p.Gln99Ter
  • NP_001395436.1:p.Gln99Ter
  • NP_001395437.1:p.Gln98Ter
  • NP_001395438.1:p.Gln98Ter
  • NP_001395439.1:p.Gln42Ter
  • NP_001395440.1:p.Gln121Ter
  • NP_001395441.1:p.Gln42Ter
  • NP_001395442.1:p.Gln99Ter
  • NP_001395443.1:p.Gln99Ter
  • NP_009225.1:p.Gln169Ter
  • NP_009225.1:p.Gln169Ter
  • NP_009228.2:p.Gln122Ter
  • NP_009229.2:p.Gln169Ter
  • NP_009229.2:p.Gln169Ter
  • NP_009230.2:p.Gln169Ter
  • NP_009231.2:p.Gln169Ter
  • NP_009235.2:p.Gln169Ter
  • LRG_292t1:c.505C>T
  • LRG_292:g.118167C>T
  • LRG_292p1:p.Gln169Ter
  • NC_000017.10:g.41251834G>A
  • NM_007294.3:c.505C>T
  • NM_007298.3:c.505C>T
  • NR_027676.2:n.682C>T
  • U14680.1:n.624C>T
  • p.Gln169*
Protein change:
Q121*
Links:
dbSNP: rs80357133
NCBI 1000 Genomes Browser:
rs80357133
Molecular consequence:
  • NR_027676.2:n.682C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001407571.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.121C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407970.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407971.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407972.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407973.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407974.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407975.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407976.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407977.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407978.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407979.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407980.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407981.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407982.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407983.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407984.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407985.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407986.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407990.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407991.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407992.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407993.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408392.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408396.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408397.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408398.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408399.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408400.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408401.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408402.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408403.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408404.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408406.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408407.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408408.1:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408409.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408410.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408411.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408412.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408413.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408414.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408415.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408416.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408418.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408419.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408420.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408421.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408422.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408423.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408424.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408425.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408426.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408427.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408428.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408429.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408430.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408431.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408432.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408433.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408434.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408435.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408436.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408437.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408438.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408439.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408440.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408441.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408442.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408443.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408444.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408445.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408446.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408447.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408448.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408450.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408451.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408452.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408453.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408454.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408455.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408456.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408457.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408458.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408459.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408460.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408461.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408462.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408463.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408464.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408465.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408466.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408467.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408468.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408469.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408470.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408472.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408473.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408474.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408475.1:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408476.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408478.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408479.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408480.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408481.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408482.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408483.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408484.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408485.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408489.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408490.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408491.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408492.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408493.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408494.1:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408495.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408496.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408497.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408498.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408499.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408500.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408501.1:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408502.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408503.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408504.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408505.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408506.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408507.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408508.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408509.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408510.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408511.1:c.361C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408512.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408513.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408514.1:c.295C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.364C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007298.4:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007299.4:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007304.2:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000591274Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591274.2

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

Description

The p.Gln169X has been identified in 1 out of 120 proband chromosomes (frequency 0.008) in an individual with a familial breast and ovarian cancer phenotype, however no controls were included in this study (Gayther 1995). It is listed in dbSNP database coming from a “clinical source” (ID#: rs80357133) where no frequency information was available. The p.Gln169X variant leads to a premature stop codon at position 169, which is predicted to cause a truncated or absent protein product and loss of function. Loss of BRCA1 function is an established disease mechanism in familial breast and ovarian cancer syndromes. In addition, this variant is listed 5 times in BIC database as a clinically important mutation. In summary, based on the information above, this variant is classified as pathogenic.

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

Last Updated: Nov 24, 2024