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NM_007294.4(BRCA1):c.122A>T (p.His41Leu) AND Fanconi anemia, complementation group S

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 13, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001292947.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.122A>T (p.His41Leu)]

NM_007294.4(BRCA1):c.122A>T (p.His41Leu)

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.122A>T (p.His41Leu)
HGVS:
  • NC_000017.11:g.43115738T>A
  • NG_005905.2:g.102246A>T
  • NM_001407571.1:c.-67A>T
  • NM_001407581.1:c.122A>T
  • NM_001407582.1:c.122A>T
  • NM_001407583.1:c.122A>T
  • NM_001407585.1:c.122A>T
  • NM_001407587.1:c.122A>T
  • NM_001407590.1:c.122A>T
  • NM_001407591.1:c.122A>T
  • NM_001407593.1:c.122A>T
  • NM_001407594.1:c.122A>T
  • NM_001407596.1:c.122A>T
  • NM_001407597.1:c.122A>T
  • NM_001407598.1:c.122A>T
  • NM_001407602.1:c.122A>T
  • NM_001407603.1:c.122A>T
  • NM_001407605.1:c.122A>T
  • NM_001407610.1:c.122A>T
  • NM_001407611.1:c.122A>T
  • NM_001407612.1:c.122A>T
  • NM_001407613.1:c.122A>T
  • NM_001407614.1:c.122A>T
  • NM_001407615.1:c.122A>T
  • NM_001407616.1:c.122A>T
  • NM_001407617.1:c.122A>T
  • NM_001407618.1:c.122A>T
  • NM_001407619.1:c.122A>T
  • NM_001407620.1:c.122A>T
  • NM_001407621.1:c.122A>T
  • NM_001407622.1:c.122A>T
  • NM_001407623.1:c.122A>T
  • NM_001407624.1:c.122A>T
  • NM_001407625.1:c.122A>T
  • NM_001407626.1:c.122A>T
  • NM_001407627.1:c.122A>T
  • NM_001407628.1:c.122A>T
  • NM_001407629.1:c.122A>T
  • NM_001407630.1:c.122A>T
  • NM_001407631.1:c.122A>T
  • NM_001407632.1:c.122A>T
  • NM_001407633.1:c.122A>T
  • NM_001407634.1:c.122A>T
  • NM_001407635.1:c.122A>T
  • NM_001407636.1:c.122A>T
  • NM_001407637.1:c.122A>T
  • NM_001407638.1:c.122A>T
  • NM_001407639.1:c.122A>T
  • NM_001407640.1:c.122A>T
  • NM_001407641.1:c.122A>T
  • NM_001407642.1:c.122A>T
  • NM_001407644.1:c.122A>T
  • NM_001407645.1:c.122A>T
  • NM_001407646.1:c.122A>T
  • NM_001407647.1:c.122A>T
  • NM_001407648.1:c.122A>T
  • NM_001407649.1:c.122A>T
  • NM_001407652.1:c.122A>T
  • NM_001407653.1:c.122A>T
  • NM_001407654.1:c.122A>T
  • NM_001407655.1:c.122A>T
  • NM_001407656.1:c.122A>T
  • NM_001407657.1:c.122A>T
  • NM_001407658.1:c.122A>T
  • NM_001407659.1:c.122A>T
  • NM_001407660.1:c.122A>T
  • NM_001407661.1:c.122A>T
  • NM_001407662.1:c.122A>T
  • NM_001407663.1:c.122A>T
  • NM_001407664.1:c.122A>T
  • NM_001407665.1:c.122A>T
  • NM_001407666.1:c.122A>T
  • NM_001407667.1:c.122A>T
  • NM_001407668.1:c.122A>T
  • NM_001407669.1:c.122A>T
  • NM_001407670.1:c.122A>T
  • NM_001407671.1:c.122A>T
  • NM_001407672.1:c.122A>T
  • NM_001407673.1:c.122A>T
  • NM_001407674.1:c.122A>T
  • NM_001407675.1:c.122A>T
  • NM_001407676.1:c.122A>T
  • NM_001407677.1:c.122A>T
  • NM_001407678.1:c.122A>T
  • NM_001407679.1:c.122A>T
  • NM_001407680.1:c.122A>T
  • NM_001407681.1:c.122A>T
  • NM_001407682.1:c.122A>T
  • NM_001407683.1:c.122A>T
  • NM_001407684.1:c.122A>T
  • NM_001407685.1:c.122A>T
  • NM_001407686.1:c.122A>T
  • NM_001407687.1:c.122A>T
  • NM_001407688.1:c.122A>T
  • NM_001407689.1:c.122A>T
  • NM_001407690.1:c.122A>T
  • NM_001407691.1:c.122A>T
  • NM_001407694.1:c.-136A>T
  • NM_001407695.1:c.-140A>T
  • NM_001407696.1:c.-136A>T
  • NM_001407697.1:c.-20A>T
  • NM_001407724.1:c.-136A>T
  • NM_001407725.1:c.-20A>T
  • NM_001407727.1:c.-136A>T
  • NM_001407728.1:c.-20A>T
  • NM_001407729.1:c.-20A>T
  • NM_001407730.1:c.-20A>T
  • NM_001407731.1:c.-136A>T
  • NM_001407733.1:c.-136A>T
  • NM_001407734.1:c.-20A>T
  • NM_001407735.1:c.-20A>T
  • NM_001407737.1:c.-20A>T
  • NM_001407739.1:c.-20A>T
  • NM_001407740.1:c.-20A>T
  • NM_001407741.1:c.-20A>T
  • NM_001407743.1:c.-20A>T
  • NM_001407745.1:c.-20A>T
  • NM_001407746.1:c.-136A>T
  • NM_001407748.1:c.-20A>T
  • NM_001407749.1:c.-136A>T
  • NM_001407752.1:c.-20A>T
  • NM_001407838.1:c.-20A>T
  • NM_001407839.1:c.-20A>T
  • NM_001407841.1:c.-16A>T
  • NM_001407842.1:c.-136A>T
  • NM_001407843.1:c.-136A>T
  • NM_001407844.1:c.-20A>T
  • NM_001407846.1:c.-20A>T
  • NM_001407847.1:c.-20A>T
  • NM_001407848.1:c.-20A>T
  • NM_001407850.1:c.-20A>T
  • NM_001407851.1:c.-20A>T
  • NM_001407853.1:c.-67A>T
  • NM_001407854.1:c.122A>T
  • NM_001407858.1:c.122A>T
  • NM_001407859.1:c.122A>T
  • NM_001407860.1:c.122A>T
  • NM_001407861.1:c.122A>T
  • NM_001407862.1:c.122A>T
  • NM_001407863.1:c.122A>T
  • NM_001407874.1:c.122A>T
  • NM_001407875.1:c.122A>T
  • NM_001407879.1:c.-67A>T
  • NM_001407882.1:c.-67A>T
  • NM_001407884.1:c.-67A>T
  • NM_001407885.1:c.-67A>T
  • NM_001407886.1:c.-67A>T
  • NM_001407887.1:c.-67A>T
  • NM_001407889.1:c.-183A>T
  • NM_001407894.1:c.-67A>T
  • NM_001407895.1:c.-67A>T
  • NM_001407896.1:c.-67A>T
  • NM_001407897.1:c.-67A>T
  • NM_001407899.1:c.-67A>T
  • NM_001407900.1:c.-183A>T
  • NM_001407904.1:c.-67A>T
  • NM_001407906.1:c.-67A>T
  • NM_001407907.1:c.-67A>T
  • NM_001407908.1:c.-67A>T
  • NM_001407909.1:c.-67A>T
  • NM_001407910.1:c.-67A>T
  • NM_001407915.1:c.-67A>T
  • NM_001407916.1:c.-67A>T
  • NM_001407917.1:c.-67A>T
  • NM_001407918.1:c.-67A>T
  • NM_001407919.1:c.122A>T
  • NM_001407920.1:c.-20A>T
  • NM_001407921.1:c.-20A>T
  • NM_001407922.1:c.-20A>T
  • NM_001407923.1:c.-20A>T
  • NM_001407926.1:c.-20A>T
  • NM_001407927.1:c.-20A>T
  • NM_001407930.1:c.-136A>T
  • NM_001407933.1:c.-20A>T
  • NM_001407934.1:c.-20A>T
  • NM_001407935.1:c.-20A>T
  • NM_001407937.1:c.122A>T
  • NM_001407938.1:c.122A>T
  • NM_001407939.1:c.122A>T
  • NM_001407940.1:c.122A>T
  • NM_001407941.1:c.122A>T
  • NM_001407942.1:c.-136A>T
  • NM_001407943.1:c.-20A>T
  • NM_001407944.1:c.-20A>T
  • NM_001407946.1:c.-67A>T
  • NM_001407947.1:c.-67A>T
  • NM_001407948.1:c.-67A>T
  • NM_001407949.1:c.-67A>T
  • NM_001407950.1:c.-67A>T
  • NM_001407951.1:c.-67A>T
  • NM_001407952.1:c.-67A>T
  • NM_001407953.1:c.-67A>T
  • NM_001407954.1:c.-67A>T
  • NM_001407955.1:c.-67A>T
  • NM_001407956.1:c.-67A>T
  • NM_001407957.1:c.-67A>T
  • NM_001407958.1:c.-67A>T
  • NM_001407960.1:c.-182A>T
  • NM_001407962.1:c.-182A>T
  • NM_001407964.1:c.-20A>T
  • NM_001407965.1:c.-298A>T
  • NM_001407968.1:c.122A>T
  • NM_001407969.1:c.122A>T
  • NM_001407970.1:c.122A>T
  • NM_001407971.1:c.122A>T
  • NM_001407972.1:c.122A>T
  • NM_001407973.1:c.122A>T
  • NM_001407974.1:c.122A>T
  • NM_001407975.1:c.122A>T
  • NM_001407976.1:c.122A>T
  • NM_001407977.1:c.122A>T
  • NM_001407978.1:c.122A>T
  • NM_001407979.1:c.122A>T
  • NM_001407980.1:c.122A>T
  • NM_001407981.1:c.122A>T
  • NM_001407982.1:c.122A>T
  • NM_001407983.1:c.122A>T
  • NM_001407984.1:c.122A>T
  • NM_001407985.1:c.122A>T
  • NM_001407986.1:c.122A>T
  • NM_001407990.1:c.122A>T
  • NM_001407991.1:c.122A>T
  • NM_001407992.1:c.122A>T
  • NM_001407993.1:c.122A>T
  • NM_001408392.1:c.122A>T
  • NM_001408396.1:c.122A>T
  • NM_001408397.1:c.122A>T
  • NM_001408398.1:c.122A>T
  • NM_001408399.1:c.122A>T
  • NM_001408400.1:c.122A>T
  • NM_001408401.1:c.122A>T
  • NM_001408402.1:c.122A>T
  • NM_001408403.1:c.122A>T
  • NM_001408404.1:c.122A>T
  • NM_001408406.1:c.122A>T
  • NM_001408407.1:c.122A>T
  • NM_001408408.1:c.122A>T
  • NM_001408409.1:c.122A>T
  • NM_001408410.1:c.-20A>T
  • NM_001408411.1:c.122A>T
  • NM_001408412.1:c.122A>T
  • NM_001408413.1:c.122A>T
  • NM_001408414.1:c.122A>T
  • NM_001408415.1:c.122A>T
  • NM_001408416.1:c.122A>T
  • NM_001408418.1:c.122A>T
  • NM_001408419.1:c.122A>T
  • NM_001408420.1:c.122A>T
  • NM_001408421.1:c.122A>T
  • NM_001408422.1:c.122A>T
  • NM_001408423.1:c.122A>T
  • NM_001408424.1:c.122A>T
  • NM_001408425.1:c.122A>T
  • NM_001408426.1:c.122A>T
  • NM_001408427.1:c.122A>T
  • NM_001408428.1:c.122A>T
  • NM_001408429.1:c.122A>T
  • NM_001408430.1:c.122A>T
  • NM_001408431.1:c.122A>T
  • NM_001408432.1:c.122A>T
  • NM_001408433.1:c.122A>T
  • NM_001408434.1:c.122A>T
  • NM_001408435.1:c.122A>T
  • NM_001408436.1:c.122A>T
  • NM_001408437.1:c.122A>T
  • NM_001408438.1:c.122A>T
  • NM_001408439.1:c.122A>T
  • NM_001408440.1:c.122A>T
  • NM_001408441.1:c.122A>T
  • NM_001408442.1:c.122A>T
  • NM_001408443.1:c.122A>T
  • NM_001408444.1:c.122A>T
  • NM_001408445.1:c.122A>T
  • NM_001408446.1:c.122A>T
  • NM_001408447.1:c.122A>T
  • NM_001408448.1:c.122A>T
  • NM_001408450.1:c.122A>T
  • NM_001408452.1:c.-20A>T
  • NM_001408453.1:c.-20A>T
  • NM_001408455.1:c.-136A>T
  • NM_001408456.1:c.-136A>T
  • NM_001408458.1:c.-20A>T
  • NM_001408462.1:c.-20A>T
  • NM_001408463.1:c.-20A>T
  • NM_001408465.1:c.-140A>T
  • NM_001408466.1:c.-20A>T
  • NM_001408468.1:c.-136A>T
  • NM_001408469.1:c.-20A>T
  • NM_001408470.1:c.-20A>T
  • NM_001408472.1:c.122A>T
  • NM_001408473.1:c.122A>T
  • NM_001408474.1:c.122A>T
  • NM_001408475.1:c.122A>T
  • NM_001408476.1:c.122A>T
  • NM_001408478.1:c.-67A>T
  • NM_001408479.1:c.-67A>T
  • NM_001408480.1:c.-67A>T
  • NM_001408481.1:c.-67A>T
  • NM_001408482.1:c.-67A>T
  • NM_001408483.1:c.-67A>T
  • NM_001408484.1:c.-67A>T
  • NM_001408485.1:c.-67A>T
  • NM_001408489.1:c.-67A>T
  • NM_001408490.1:c.-67A>T
  • NM_001408491.1:c.-67A>T
  • NM_001408492.1:c.-183A>T
  • NM_001408493.1:c.-67A>T
  • NM_001408494.1:c.122A>T
  • NM_001408495.1:c.122A>T
  • NM_001408497.1:c.-20A>T
  • NM_001408499.1:c.-20A>T
  • NM_001408500.1:c.-20A>T
  • NM_001408501.1:c.-136A>T
  • NM_001408502.1:c.-67A>T
  • NM_001408503.1:c.-20A>T
  • NM_001408504.1:c.-20A>T
  • NM_001408505.1:c.-20A>T
  • NM_001408506.1:c.-67A>T
  • NM_001408507.1:c.-67A>T
  • NM_001408508.1:c.-67A>T
  • NM_001408509.1:c.-67A>T
  • NM_001408510.1:c.-182A>T
  • NM_001408512.1:c.-182A>T
  • NM_001408513.1:c.-67A>T
  • NM_001408514.1:c.-67A>T
  • NM_007294.4:c.122A>TMANE SELECT
  • NM_007297.4:c.-8+8279A>T
  • NM_007298.4:c.122A>T
  • NM_007299.4:c.122A>T
  • NM_007300.4:c.122A>T
  • NM_007304.2:c.122A>T
  • NP_001394510.1:p.His41Leu
  • NP_001394511.1:p.His41Leu
  • NP_001394512.1:p.His41Leu
  • NP_001394514.1:p.His41Leu
  • NP_001394516.1:p.His41Leu
  • NP_001394519.1:p.His41Leu
  • NP_001394520.1:p.His41Leu
  • NP_001394522.1:p.His41Leu
  • NP_001394523.1:p.His41Leu
  • NP_001394525.1:p.His41Leu
  • NP_001394526.1:p.His41Leu
  • NP_001394527.1:p.His41Leu
  • NP_001394531.1:p.His41Leu
  • NP_001394532.1:p.His41Leu
  • NP_001394534.1:p.His41Leu
  • NP_001394539.1:p.His41Leu
  • NP_001394540.1:p.His41Leu
  • NP_001394541.1:p.His41Leu
  • NP_001394542.1:p.His41Leu
  • NP_001394543.1:p.His41Leu
  • NP_001394544.1:p.His41Leu
  • NP_001394545.1:p.His41Leu
  • NP_001394546.1:p.His41Leu
  • NP_001394547.1:p.His41Leu
  • NP_001394548.1:p.His41Leu
  • NP_001394549.1:p.His41Leu
  • NP_001394550.1:p.His41Leu
  • NP_001394551.1:p.His41Leu
  • NP_001394552.1:p.His41Leu
  • NP_001394553.1:p.His41Leu
  • NP_001394554.1:p.His41Leu
  • NP_001394555.1:p.His41Leu
  • NP_001394556.1:p.His41Leu
  • NP_001394557.1:p.His41Leu
  • NP_001394558.1:p.His41Leu
  • NP_001394559.1:p.His41Leu
  • NP_001394560.1:p.His41Leu
  • NP_001394561.1:p.His41Leu
  • NP_001394562.1:p.His41Leu
  • NP_001394563.1:p.His41Leu
  • NP_001394564.1:p.His41Leu
  • NP_001394565.1:p.His41Leu
  • NP_001394566.1:p.His41Leu
  • NP_001394567.1:p.His41Leu
  • NP_001394568.1:p.His41Leu
  • NP_001394569.1:p.His41Leu
  • NP_001394570.1:p.His41Leu
  • NP_001394571.1:p.His41Leu
  • NP_001394573.1:p.His41Leu
  • NP_001394574.1:p.His41Leu
  • NP_001394575.1:p.His41Leu
  • NP_001394576.1:p.His41Leu
  • NP_001394577.1:p.His41Leu
  • NP_001394578.1:p.His41Leu
  • NP_001394581.1:p.His41Leu
  • NP_001394582.1:p.His41Leu
  • NP_001394583.1:p.His41Leu
  • NP_001394584.1:p.His41Leu
  • NP_001394585.1:p.His41Leu
  • NP_001394586.1:p.His41Leu
  • NP_001394587.1:p.His41Leu
  • NP_001394588.1:p.His41Leu
  • NP_001394589.1:p.His41Leu
  • NP_001394590.1:p.His41Leu
  • NP_001394591.1:p.His41Leu
  • NP_001394592.1:p.His41Leu
  • NP_001394593.1:p.His41Leu
  • NP_001394594.1:p.His41Leu
  • NP_001394595.1:p.His41Leu
  • NP_001394596.1:p.His41Leu
  • NP_001394597.1:p.His41Leu
  • NP_001394598.1:p.His41Leu
  • NP_001394599.1:p.His41Leu
  • NP_001394600.1:p.His41Leu
  • NP_001394601.1:p.His41Leu
  • NP_001394602.1:p.His41Leu
  • NP_001394603.1:p.His41Leu
  • NP_001394604.1:p.His41Leu
  • NP_001394605.1:p.His41Leu
  • NP_001394606.1:p.His41Leu
  • NP_001394607.1:p.His41Leu
  • NP_001394608.1:p.His41Leu
  • NP_001394609.1:p.His41Leu
  • NP_001394610.1:p.His41Leu
  • NP_001394611.1:p.His41Leu
  • NP_001394612.1:p.His41Leu
  • NP_001394613.1:p.His41Leu
  • NP_001394614.1:p.His41Leu
  • NP_001394615.1:p.His41Leu
  • NP_001394616.1:p.His41Leu
  • NP_001394617.1:p.His41Leu
  • NP_001394618.1:p.His41Leu
  • NP_001394619.1:p.His41Leu
  • NP_001394620.1:p.His41Leu
  • NP_001394783.1:p.His41Leu
  • NP_001394787.1:p.His41Leu
  • NP_001394788.1:p.His41Leu
  • NP_001394789.1:p.His41Leu
  • NP_001394790.1:p.His41Leu
  • NP_001394791.1:p.His41Leu
  • NP_001394792.1:p.His41Leu
  • NP_001394803.1:p.His41Leu
  • NP_001394804.1:p.His41Leu
  • NP_001394848.1:p.His41Leu
  • NP_001394866.1:p.His41Leu
  • NP_001394867.1:p.His41Leu
  • NP_001394868.1:p.His41Leu
  • NP_001394869.1:p.His41Leu
  • NP_001394870.1:p.His41Leu
  • NP_001394897.1:p.His41Leu
  • NP_001394898.1:p.His41Leu
  • NP_001394899.1:p.His41Leu
  • NP_001394900.1:p.His41Leu
  • NP_001394901.1:p.His41Leu
  • NP_001394902.1:p.His41Leu
  • NP_001394903.1:p.His41Leu
  • NP_001394904.1:p.His41Leu
  • NP_001394905.1:p.His41Leu
  • NP_001394906.1:p.His41Leu
  • NP_001394907.1:p.His41Leu
  • NP_001394908.1:p.His41Leu
  • NP_001394909.1:p.His41Leu
  • NP_001394910.1:p.His41Leu
  • NP_001394911.1:p.His41Leu
  • NP_001394912.1:p.His41Leu
  • NP_001394913.1:p.His41Leu
  • NP_001394914.1:p.His41Leu
  • NP_001394915.1:p.His41Leu
  • NP_001394919.1:p.His41Leu
  • NP_001394920.1:p.His41Leu
  • NP_001394921.1:p.His41Leu
  • NP_001394922.1:p.His41Leu
  • NP_001395321.1:p.His41Leu
  • NP_001395325.1:p.His41Leu
  • NP_001395326.1:p.His41Leu
  • NP_001395327.1:p.His41Leu
  • NP_001395328.1:p.His41Leu
  • NP_001395329.1:p.His41Leu
  • NP_001395330.1:p.His41Leu
  • NP_001395331.1:p.His41Leu
  • NP_001395332.1:p.His41Leu
  • NP_001395333.1:p.His41Leu
  • NP_001395335.1:p.His41Leu
  • NP_001395336.1:p.His41Leu
  • NP_001395337.1:p.His41Leu
  • NP_001395338.1:p.His41Leu
  • NP_001395340.1:p.His41Leu
  • NP_001395341.1:p.His41Leu
  • NP_001395342.1:p.His41Leu
  • NP_001395343.1:p.His41Leu
  • NP_001395344.1:p.His41Leu
  • NP_001395345.1:p.His41Leu
  • NP_001395347.1:p.His41Leu
  • NP_001395348.1:p.His41Leu
  • NP_001395349.1:p.His41Leu
  • NP_001395350.1:p.His41Leu
  • NP_001395351.1:p.His41Leu
  • NP_001395352.1:p.His41Leu
  • NP_001395353.1:p.His41Leu
  • NP_001395354.1:p.His41Leu
  • NP_001395355.1:p.His41Leu
  • NP_001395356.1:p.His41Leu
  • NP_001395357.1:p.His41Leu
  • NP_001395358.1:p.His41Leu
  • NP_001395359.1:p.His41Leu
  • NP_001395360.1:p.His41Leu
  • NP_001395361.1:p.His41Leu
  • NP_001395362.1:p.His41Leu
  • NP_001395363.1:p.His41Leu
  • NP_001395364.1:p.His41Leu
  • NP_001395365.1:p.His41Leu
  • NP_001395366.1:p.His41Leu
  • NP_001395367.1:p.His41Leu
  • NP_001395368.1:p.His41Leu
  • NP_001395369.1:p.His41Leu
  • NP_001395370.1:p.His41Leu
  • NP_001395371.1:p.His41Leu
  • NP_001395372.1:p.His41Leu
  • NP_001395373.1:p.His41Leu
  • NP_001395374.1:p.His41Leu
  • NP_001395375.1:p.His41Leu
  • NP_001395376.1:p.His41Leu
  • NP_001395377.1:p.His41Leu
  • NP_001395379.1:p.His41Leu
  • NP_001395401.1:p.His41Leu
  • NP_001395402.1:p.His41Leu
  • NP_001395403.1:p.His41Leu
  • NP_001395404.1:p.His41Leu
  • NP_001395405.1:p.His41Leu
  • NP_001395423.1:p.His41Leu
  • NP_001395424.1:p.His41Leu
  • NP_009225.1:p.His41Leu
  • NP_009225.1:p.His41Leu
  • NP_009229.2:p.His41Leu
  • NP_009229.2:p.His41Leu
  • NP_009230.2:p.His41Leu
  • NP_009231.2:p.His41Leu
  • NP_009235.2:p.His41Leu
  • LRG_292t1:c.122A>T
  • LRG_292:g.102246A>T
  • LRG_292p1:p.His41Leu
  • NC_000017.10:g.41267755T>A
  • NM_007294.3:c.122A>T
  • NM_007298.3:c.122A>T
  • NR_027676.2:n.324A>T
Protein change:
H41L
Links:
dbSNP: rs80357276
NCBI 1000 Genomes Browser:
rs80357276
Molecular consequence:
  • NM_007297.4:c.-8+8279A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.324A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Name:
Fanconi anemia, complementation group S (FANCS)
Identifiers:
MONDO: MONDO:0054748; MedGen: C4554406; OMIM: 617883

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001481655Baylor Genetics - CSER-TexasKidsCanSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 13, 2020) 		maternalclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR.

Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

PubMed [citation]
PMID:
25186627

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777
See all PubMed Citations (3)

Details of each submission

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV001481655.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID 25186627, 30209399]

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

Last Updated: Oct 8, 2024