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NM_007294.4(BRCA1):c.441G>C (p.Leu147Phe) AND not specified

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 4, 2019
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:
RCV000508689.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.441G>C (p.Leu147Phe)]

NM_007294.4(BRCA1):c.441G>C (p.Leu147Phe)

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.441G>C (p.Leu147Phe)
HGVS:
  • NC_000017.11:g.43104122C>G
  • NG_005905.2:g.113862G>C
  • NM_001407571.1:c.231G>C
  • NM_001407581.1:c.441G>C
  • NM_001407582.1:c.441G>C
  • NM_001407583.1:c.441G>C
  • NM_001407585.1:c.441G>C
  • NM_001407587.1:c.441G>C
  • NM_001407590.1:c.441G>C
  • NM_001407591.1:c.441G>C
  • NM_001407593.1:c.441G>C
  • NM_001407594.1:c.441G>C
  • NM_001407596.1:c.441G>C
  • NM_001407597.1:c.441G>C
  • NM_001407598.1:c.441G>C
  • NM_001407602.1:c.441G>C
  • NM_001407603.1:c.441G>C
  • NM_001407605.1:c.441G>C
  • NM_001407610.1:c.441G>C
  • NM_001407611.1:c.441G>C
  • NM_001407612.1:c.441G>C
  • NM_001407613.1:c.441G>C
  • NM_001407614.1:c.441G>C
  • NM_001407615.1:c.441G>C
  • NM_001407616.1:c.441G>C
  • NM_001407617.1:c.441G>C
  • NM_001407618.1:c.441G>C
  • NM_001407619.1:c.441G>C
  • NM_001407620.1:c.441G>C
  • NM_001407621.1:c.441G>C
  • NM_001407622.1:c.441G>C
  • NM_001407623.1:c.441G>C
  • NM_001407624.1:c.441G>C
  • NM_001407625.1:c.441G>C
  • NM_001407626.1:c.441G>C
  • NM_001407627.1:c.441G>C
  • NM_001407628.1:c.441G>C
  • NM_001407629.1:c.441G>C
  • NM_001407630.1:c.441G>C
  • NM_001407631.1:c.441G>C
  • NM_001407632.1:c.441G>C
  • NM_001407633.1:c.441G>C
  • NM_001407634.1:c.441G>C
  • NM_001407635.1:c.441G>C
  • NM_001407636.1:c.441G>C
  • NM_001407637.1:c.441G>C
  • NM_001407638.1:c.441G>C
  • NM_001407639.1:c.441G>C
  • NM_001407640.1:c.441G>C
  • NM_001407641.1:c.441G>C
  • NM_001407642.1:c.441G>C
  • NM_001407644.1:c.441G>C
  • NM_001407645.1:c.441G>C
  • NM_001407646.1:c.432G>C
  • NM_001407647.1:c.432G>C
  • NM_001407648.1:c.441G>C
  • NM_001407649.1:c.441G>C
  • NM_001407652.1:c.441G>C
  • NM_001407653.1:c.363G>C
  • NM_001407654.1:c.363G>C
  • NM_001407655.1:c.363G>C
  • NM_001407656.1:c.363G>C
  • NM_001407657.1:c.363G>C
  • NM_001407658.1:c.363G>C
  • NM_001407659.1:c.363G>C
  • NM_001407660.1:c.363G>C
  • NM_001407661.1:c.363G>C
  • NM_001407662.1:c.363G>C
  • NM_001407663.1:c.363G>C
  • NM_001407664.1:c.441G>C
  • NM_001407665.1:c.441G>C
  • NM_001407666.1:c.441G>C
  • NM_001407667.1:c.441G>C
  • NM_001407668.1:c.441G>C
  • NM_001407669.1:c.441G>C
  • NM_001407670.1:c.441G>C
  • NM_001407671.1:c.441G>C
  • NM_001407672.1:c.441G>C
  • NM_001407673.1:c.441G>C
  • NM_001407674.1:c.441G>C
  • NM_001407675.1:c.441G>C
  • NM_001407676.1:c.441G>C
  • NM_001407677.1:c.441G>C
  • NM_001407678.1:c.441G>C
  • NM_001407679.1:c.441G>C
  • NM_001407680.1:c.441G>C
  • NM_001407681.1:c.441G>C
  • NM_001407682.1:c.441G>C
  • NM_001407683.1:c.441G>C
  • NM_001407684.1:c.441G>C
  • NM_001407685.1:c.441G>C
  • NM_001407686.1:c.441G>C
  • NM_001407687.1:c.441G>C
  • NM_001407688.1:c.441G>C
  • NM_001407689.1:c.441G>C
  • NM_001407690.1:c.441G>C
  • NM_001407691.1:c.441G>C
  • NM_001407692.1:c.300G>C
  • NM_001407694.1:c.300G>C
  • NM_001407695.1:c.300G>C
  • NM_001407696.1:c.300G>C
  • NM_001407697.1:c.300G>C
  • NM_001407698.1:c.300G>C
  • NM_001407724.1:c.300G>C
  • NM_001407725.1:c.300G>C
  • NM_001407726.1:c.300G>C
  • NM_001407727.1:c.300G>C
  • NM_001407728.1:c.300G>C
  • NM_001407729.1:c.300G>C
  • NM_001407730.1:c.300G>C
  • NM_001407731.1:c.300G>C
  • NM_001407732.1:c.300G>C
  • NM_001407733.1:c.300G>C
  • NM_001407734.1:c.300G>C
  • NM_001407735.1:c.300G>C
  • NM_001407736.1:c.300G>C
  • NM_001407737.1:c.300G>C
  • NM_001407738.1:c.300G>C
  • NM_001407739.1:c.300G>C
  • NM_001407740.1:c.300G>C
  • NM_001407741.1:c.300G>C
  • NM_001407742.1:c.300G>C
  • NM_001407743.1:c.300G>C
  • NM_001407744.1:c.300G>C
  • NM_001407745.1:c.300G>C
  • NM_001407746.1:c.300G>C
  • NM_001407747.1:c.300G>C
  • NM_001407748.1:c.300G>C
  • NM_001407749.1:c.300G>C
  • NM_001407750.1:c.300G>C
  • NM_001407751.1:c.300G>C
  • NM_001407752.1:c.300G>C
  • NM_001407838.1:c.300G>C
  • NM_001407839.1:c.300G>C
  • NM_001407841.1:c.300G>C
  • NM_001407842.1:c.300G>C
  • NM_001407843.1:c.300G>C
  • NM_001407844.1:c.300G>C
  • NM_001407845.1:c.300G>C
  • NM_001407846.1:c.300G>C
  • NM_001407847.1:c.300G>C
  • NM_001407848.1:c.300G>C
  • NM_001407849.1:c.300G>C
  • NM_001407850.1:c.300G>C
  • NM_001407851.1:c.300G>C
  • NM_001407852.1:c.300G>C
  • NM_001407853.1:c.231G>C
  • NM_001407854.1:c.441G>C
  • NM_001407858.1:c.441G>C
  • NM_001407859.1:c.441G>C
  • NM_001407860.1:c.441G>C
  • NM_001407861.1:c.441G>C
  • NM_001407862.1:c.363G>C
  • NM_001407863.1:c.441G>C
  • NM_001407874.1:c.363G>C
  • NM_001407875.1:c.363G>C
  • NM_001407879.1:c.231G>C
  • NM_001407881.1:c.231G>C
  • NM_001407882.1:c.231G>C
  • NM_001407884.1:c.231G>C
  • NM_001407885.1:c.231G>C
  • NM_001407886.1:c.231G>C
  • NM_001407887.1:c.231G>C
  • NM_001407889.1:c.231G>C
  • NM_001407894.1:c.231G>C
  • NM_001407895.1:c.231G>C
  • NM_001407896.1:c.231G>C
  • NM_001407897.1:c.231G>C
  • NM_001407898.1:c.231G>C
  • NM_001407899.1:c.231G>C
  • NM_001407900.1:c.231G>C
  • NM_001407902.1:c.231G>C
  • NM_001407904.1:c.231G>C
  • NM_001407906.1:c.231G>C
  • NM_001407907.1:c.231G>C
  • NM_001407908.1:c.231G>C
  • NM_001407909.1:c.231G>C
  • NM_001407910.1:c.231G>C
  • NM_001407915.1:c.231G>C
  • NM_001407916.1:c.231G>C
  • NM_001407917.1:c.231G>C
  • NM_001407918.1:c.231G>C
  • NM_001407919.1:c.441G>C
  • NM_001407920.1:c.300G>C
  • NM_001407921.1:c.300G>C
  • NM_001407922.1:c.300G>C
  • NM_001407923.1:c.300G>C
  • NM_001407924.1:c.300G>C
  • NM_001407925.1:c.300G>C
  • NM_001407926.1:c.300G>C
  • NM_001407927.1:c.300G>C
  • NM_001407928.1:c.300G>C
  • NM_001407929.1:c.300G>C
  • NM_001407930.1:c.300G>C
  • NM_001407931.1:c.300G>C
  • NM_001407932.1:c.300G>C
  • NM_001407933.1:c.300G>C
  • NM_001407934.1:c.300G>C
  • NM_001407935.1:c.300G>C
  • NM_001407936.1:c.300G>C
  • NM_001407937.1:c.441G>C
  • NM_001407938.1:c.441G>C
  • NM_001407939.1:c.441G>C
  • NM_001407940.1:c.441G>C
  • NM_001407941.1:c.441G>C
  • NM_001407942.1:c.300G>C
  • NM_001407943.1:c.300G>C
  • NM_001407944.1:c.300G>C
  • NM_001407945.1:c.300G>C
  • NM_001407946.1:c.231G>C
  • NM_001407947.1:c.231G>C
  • NM_001407948.1:c.231G>C
  • NM_001407949.1:c.231G>C
  • NM_001407950.1:c.231G>C
  • NM_001407951.1:c.231G>C
  • NM_001407952.1:c.231G>C
  • NM_001407953.1:c.231G>C
  • NM_001407954.1:c.231G>C
  • NM_001407955.1:c.231G>C
  • NM_001407956.1:c.231G>C
  • NM_001407957.1:c.231G>C
  • NM_001407958.1:c.231G>C
  • NM_001407959.1:c.60G>C
  • NM_001407960.1:c.60G>C
  • NM_001407962.1:c.60G>C
  • NM_001407963.1:c.60G>C
  • NM_001407964.1:c.300G>C
  • NM_001407965.1:c.60G>C
  • NM_001407968.1:c.441G>C
  • NM_001407969.1:c.441G>C
  • NM_001407970.1:c.441G>C
  • NM_001407971.1:c.441G>C
  • NM_001407972.1:c.441G>C
  • NM_001407973.1:c.441G>C
  • NM_001407974.1:c.441G>C
  • NM_001407975.1:c.441G>C
  • NM_001407976.1:c.441G>C
  • NM_001407977.1:c.441G>C
  • NM_001407978.1:c.441G>C
  • NM_001407979.1:c.441G>C
  • NM_001407980.1:c.441G>C
  • NM_001407981.1:c.441G>C
  • NM_001407982.1:c.441G>C
  • NM_001407983.1:c.441G>C
  • NM_001407984.1:c.441G>C
  • NM_001407985.1:c.441G>C
  • NM_001407986.1:c.441G>C
  • NM_001407990.1:c.441G>C
  • NM_001407991.1:c.441G>C
  • NM_001407992.1:c.441G>C
  • NM_001407993.1:c.441G>C
  • NM_001408392.1:c.441G>C
  • NM_001408396.1:c.441G>C
  • NM_001408397.1:c.441G>C
  • NM_001408398.1:c.441G>C
  • NM_001408399.1:c.441G>C
  • NM_001408400.1:c.441G>C
  • NM_001408401.1:c.441G>C
  • NM_001408402.1:c.441G>C
  • NM_001408403.1:c.441G>C
  • NM_001408404.1:c.441G>C
  • NM_001408406.1:c.441G>C
  • NM_001408407.1:c.441G>C
  • NM_001408408.1:c.432G>C
  • NM_001408409.1:c.363G>C
  • NM_001408410.1:c.300G>C
  • NM_001408411.1:c.363G>C
  • NM_001408412.1:c.363G>C
  • NM_001408413.1:c.363G>C
  • NM_001408414.1:c.363G>C
  • NM_001408415.1:c.363G>C
  • NM_001408416.1:c.363G>C
  • NM_001408418.1:c.441G>C
  • NM_001408419.1:c.441G>C
  • NM_001408420.1:c.441G>C
  • NM_001408421.1:c.441G>C
  • NM_001408422.1:c.441G>C
  • NM_001408423.1:c.441G>C
  • NM_001408424.1:c.441G>C
  • NM_001408425.1:c.441G>C
  • NM_001408426.1:c.441G>C
  • NM_001408427.1:c.441G>C
  • NM_001408428.1:c.441G>C
  • NM_001408429.1:c.441G>C
  • NM_001408430.1:c.441G>C
  • NM_001408431.1:c.441G>C
  • NM_001408432.1:c.441G>C
  • NM_001408433.1:c.441G>C
  • NM_001408434.1:c.441G>C
  • NM_001408435.1:c.441G>C
  • NM_001408436.1:c.441G>C
  • NM_001408437.1:c.441G>C
  • NM_001408438.1:c.441G>C
  • NM_001408439.1:c.441G>C
  • NM_001408440.1:c.441G>C
  • NM_001408441.1:c.441G>C
  • NM_001408442.1:c.441G>C
  • NM_001408443.1:c.441G>C
  • NM_001408444.1:c.441G>C
  • NM_001408445.1:c.441G>C
  • NM_001408446.1:c.441G>C
  • NM_001408447.1:c.441G>C
  • NM_001408448.1:c.441G>C
  • NM_001408450.1:c.441G>C
  • NM_001408451.1:c.309G>C
  • NM_001408452.1:c.300G>C
  • NM_001408453.1:c.300G>C
  • NM_001408454.1:c.300G>C
  • NM_001408455.1:c.300G>C
  • NM_001408456.1:c.300G>C
  • NM_001408457.1:c.300G>C
  • NM_001408458.1:c.300G>C
  • NM_001408459.1:c.300G>C
  • NM_001408460.1:c.300G>C
  • NM_001408461.1:c.300G>C
  • NM_001408462.1:c.300G>C
  • NM_001408463.1:c.300G>C
  • NM_001408464.1:c.300G>C
  • NM_001408465.1:c.300G>C
  • NM_001408466.1:c.300G>C
  • NM_001408467.1:c.300G>C
  • NM_001408468.1:c.300G>C
  • NM_001408469.1:c.300G>C
  • NM_001408470.1:c.300G>C
  • NM_001408472.1:c.441G>C
  • NM_001408473.1:c.441G>C
  • NM_001408474.1:c.363G>C
  • NM_001408475.1:c.363G>C
  • NM_001408476.1:c.363G>C
  • NM_001408478.1:c.231G>C
  • NM_001408479.1:c.231G>C
  • NM_001408480.1:c.231G>C
  • NM_001408481.1:c.231G>C
  • NM_001408482.1:c.231G>C
  • NM_001408483.1:c.231G>C
  • NM_001408484.1:c.231G>C
  • NM_001408485.1:c.231G>C
  • NM_001408489.1:c.231G>C
  • NM_001408490.1:c.231G>C
  • NM_001408491.1:c.231G>C
  • NM_001408492.1:c.231G>C
  • NM_001408493.1:c.231G>C
  • NM_001408494.1:c.441G>C
  • NM_001408495.1:c.441G>C
  • NM_001408496.1:c.300G>C
  • NM_001408497.1:c.300G>C
  • NM_001408498.1:c.300G>C
  • NM_001408499.1:c.300G>C
  • NM_001408500.1:c.300G>C
  • NM_001408501.1:c.300G>C
  • NM_001408502.1:c.231G>C
  • NM_001408503.1:c.300G>C
  • NM_001408504.1:c.300G>C
  • NM_001408505.1:c.300G>C
  • NM_001408506.1:c.231G>C
  • NM_001408507.1:c.231G>C
  • NM_001408508.1:c.231G>C
  • NM_001408509.1:c.231G>C
  • NM_001408510.1:c.60G>C
  • NM_001408511.1:c.300G>C
  • NM_001408512.1:c.60G>C
  • NM_001408513.1:c.231G>C
  • NM_001408514.1:c.231G>C
  • NM_007294.4:c.441G>CMANE SELECT
  • NM_007297.4:c.300G>C
  • NM_007298.4:c.441G>C
  • NM_007299.4:c.441G>C
  • NM_007300.4:c.441G>C
  • NM_007304.2:c.441G>C
  • NP_001394500.1:p.Leu77Phe
  • NP_001394510.1:p.Leu147Phe
  • NP_001394511.1:p.Leu147Phe
  • NP_001394512.1:p.Leu147Phe
  • NP_001394514.1:p.Leu147Phe
  • NP_001394516.1:p.Leu147Phe
  • NP_001394519.1:p.Leu147Phe
  • NP_001394520.1:p.Leu147Phe
  • NP_001394522.1:p.Leu147Phe
  • NP_001394523.1:p.Leu147Phe
  • NP_001394525.1:p.Leu147Phe
  • NP_001394526.1:p.Leu147Phe
  • NP_001394527.1:p.Leu147Phe
  • NP_001394531.1:p.Leu147Phe
  • NP_001394532.1:p.Leu147Phe
  • NP_001394534.1:p.Leu147Phe
  • NP_001394539.1:p.Leu147Phe
  • NP_001394540.1:p.Leu147Phe
  • NP_001394541.1:p.Leu147Phe
  • NP_001394542.1:p.Leu147Phe
  • NP_001394543.1:p.Leu147Phe
  • NP_001394544.1:p.Leu147Phe
  • NP_001394545.1:p.Leu147Phe
  • NP_001394546.1:p.Leu147Phe
  • NP_001394547.1:p.Leu147Phe
  • NP_001394548.1:p.Leu147Phe
  • NP_001394549.1:p.Leu147Phe
  • NP_001394550.1:p.Leu147Phe
  • NP_001394551.1:p.Leu147Phe
  • NP_001394552.1:p.Leu147Phe
  • NP_001394553.1:p.Leu147Phe
  • NP_001394554.1:p.Leu147Phe
  • NP_001394555.1:p.Leu147Phe
  • NP_001394556.1:p.Leu147Phe
  • NP_001394557.1:p.Leu147Phe
  • NP_001394558.1:p.Leu147Phe
  • NP_001394559.1:p.Leu147Phe
  • NP_001394560.1:p.Leu147Phe
  • NP_001394561.1:p.Leu147Phe
  • NP_001394562.1:p.Leu147Phe
  • NP_001394563.1:p.Leu147Phe
  • NP_001394564.1:p.Leu147Phe
  • NP_001394565.1:p.Leu147Phe
  • NP_001394566.1:p.Leu147Phe
  • NP_001394567.1:p.Leu147Phe
  • NP_001394568.1:p.Leu147Phe
  • NP_001394569.1:p.Leu147Phe
  • NP_001394570.1:p.Leu147Phe
  • NP_001394571.1:p.Leu147Phe
  • NP_001394573.1:p.Leu147Phe
  • NP_001394574.1:p.Leu147Phe
  • NP_001394575.1:p.Leu144Phe
  • NP_001394576.1:p.Leu144Phe
  • NP_001394577.1:p.Leu147Phe
  • NP_001394578.1:p.Leu147Phe
  • NP_001394581.1:p.Leu147Phe
  • NP_001394582.1:p.Leu121Phe
  • NP_001394583.1:p.Leu121Phe
  • NP_001394584.1:p.Leu121Phe
  • NP_001394585.1:p.Leu121Phe
  • NP_001394586.1:p.Leu121Phe
  • NP_001394587.1:p.Leu121Phe
  • NP_001394588.1:p.Leu121Phe
  • NP_001394589.1:p.Leu121Phe
  • NP_001394590.1:p.Leu121Phe
  • NP_001394591.1:p.Leu121Phe
  • NP_001394592.1:p.Leu121Phe
  • NP_001394593.1:p.Leu147Phe
  • NP_001394594.1:p.Leu147Phe
  • NP_001394595.1:p.Leu147Phe
  • NP_001394596.1:p.Leu147Phe
  • NP_001394597.1:p.Leu147Phe
  • NP_001394598.1:p.Leu147Phe
  • NP_001394599.1:p.Leu147Phe
  • NP_001394600.1:p.Leu147Phe
  • NP_001394601.1:p.Leu147Phe
  • NP_001394602.1:p.Leu147Phe
  • NP_001394603.1:p.Leu147Phe
  • NP_001394604.1:p.Leu147Phe
  • NP_001394605.1:p.Leu147Phe
  • NP_001394606.1:p.Leu147Phe
  • NP_001394607.1:p.Leu147Phe
  • NP_001394608.1:p.Leu147Phe
  • NP_001394609.1:p.Leu147Phe
  • NP_001394610.1:p.Leu147Phe
  • NP_001394611.1:p.Leu147Phe
  • NP_001394612.1:p.Leu147Phe
  • NP_001394613.1:p.Leu147Phe
  • NP_001394614.1:p.Leu147Phe
  • NP_001394615.1:p.Leu147Phe
  • NP_001394616.1:p.Leu147Phe
  • NP_001394617.1:p.Leu147Phe
  • NP_001394618.1:p.Leu147Phe
  • NP_001394619.1:p.Leu147Phe
  • NP_001394620.1:p.Leu147Phe
  • NP_001394621.1:p.Leu100Phe
  • NP_001394623.1:p.Leu100Phe
  • NP_001394624.1:p.Leu100Phe
  • NP_001394625.1:p.Leu100Phe
  • NP_001394626.1:p.Leu100Phe
  • NP_001394627.1:p.Leu100Phe
  • NP_001394653.1:p.Leu100Phe
  • NP_001394654.1:p.Leu100Phe
  • NP_001394655.1:p.Leu100Phe
  • NP_001394656.1:p.Leu100Phe
  • NP_001394657.1:p.Leu100Phe
  • NP_001394658.1:p.Leu100Phe
  • NP_001394659.1:p.Leu100Phe
  • NP_001394660.1:p.Leu100Phe
  • NP_001394661.1:p.Leu100Phe
  • NP_001394662.1:p.Leu100Phe
  • NP_001394663.1:p.Leu100Phe
  • NP_001394664.1:p.Leu100Phe
  • NP_001394665.1:p.Leu100Phe
  • NP_001394666.1:p.Leu100Phe
  • NP_001394667.1:p.Leu100Phe
  • NP_001394668.1:p.Leu100Phe
  • NP_001394669.1:p.Leu100Phe
  • NP_001394670.1:p.Leu100Phe
  • NP_001394671.1:p.Leu100Phe
  • NP_001394672.1:p.Leu100Phe
  • NP_001394673.1:p.Leu100Phe
  • NP_001394674.1:p.Leu100Phe
  • NP_001394675.1:p.Leu100Phe
  • NP_001394676.1:p.Leu100Phe
  • NP_001394677.1:p.Leu100Phe
  • NP_001394678.1:p.Leu100Phe
  • NP_001394679.1:p.Leu100Phe
  • NP_001394680.1:p.Leu100Phe
  • NP_001394681.1:p.Leu100Phe
  • NP_001394767.1:p.Leu100Phe
  • NP_001394768.1:p.Leu100Phe
  • NP_001394770.1:p.Leu100Phe
  • NP_001394771.1:p.Leu100Phe
  • NP_001394772.1:p.Leu100Phe
  • NP_001394773.1:p.Leu100Phe
  • NP_001394774.1:p.Leu100Phe
  • NP_001394775.1:p.Leu100Phe
  • NP_001394776.1:p.Leu100Phe
  • NP_001394777.1:p.Leu100Phe
  • NP_001394778.1:p.Leu100Phe
  • NP_001394779.1:p.Leu100Phe
  • NP_001394780.1:p.Leu100Phe
  • NP_001394781.1:p.Leu100Phe
  • NP_001394782.1:p.Leu77Phe
  • NP_001394783.1:p.Leu147Phe
  • NP_001394787.1:p.Leu147Phe
  • NP_001394788.1:p.Leu147Phe
  • NP_001394789.1:p.Leu147Phe
  • NP_001394790.1:p.Leu147Phe
  • NP_001394791.1:p.Leu121Phe
  • NP_001394792.1:p.Leu147Phe
  • NP_001394803.1:p.Leu121Phe
  • NP_001394804.1:p.Leu121Phe
  • NP_001394808.1:p.Leu77Phe
  • NP_001394810.1:p.Leu77Phe
  • NP_001394811.1:p.Leu77Phe
  • NP_001394813.1:p.Leu77Phe
  • NP_001394814.1:p.Leu77Phe
  • NP_001394815.1:p.Leu77Phe
  • NP_001394816.1:p.Leu77Phe
  • NP_001394818.1:p.Leu77Phe
  • NP_001394823.1:p.Leu77Phe
  • NP_001394824.1:p.Leu77Phe
  • NP_001394825.1:p.Leu77Phe
  • NP_001394826.1:p.Leu77Phe
  • NP_001394827.1:p.Leu77Phe
  • NP_001394828.1:p.Leu77Phe
  • NP_001394829.1:p.Leu77Phe
  • NP_001394831.1:p.Leu77Phe
  • NP_001394833.1:p.Leu77Phe
  • NP_001394835.1:p.Leu77Phe
  • NP_001394836.1:p.Leu77Phe
  • NP_001394837.1:p.Leu77Phe
  • NP_001394838.1:p.Leu77Phe
  • NP_001394839.1:p.Leu77Phe
  • NP_001394844.1:p.Leu77Phe
  • NP_001394845.1:p.Leu77Phe
  • NP_001394846.1:p.Leu77Phe
  • NP_001394847.1:p.Leu77Phe
  • NP_001394848.1:p.Leu147Phe
  • NP_001394849.1:p.Leu100Phe
  • NP_001394850.1:p.Leu100Phe
  • NP_001394851.1:p.Leu100Phe
  • NP_001394852.1:p.Leu100Phe
  • NP_001394853.1:p.Leu100Phe
  • NP_001394854.1:p.Leu100Phe
  • NP_001394855.1:p.Leu100Phe
  • NP_001394856.1:p.Leu100Phe
  • NP_001394857.1:p.Leu100Phe
  • NP_001394858.1:p.Leu100Phe
  • NP_001394859.1:p.Leu100Phe
  • NP_001394860.1:p.Leu100Phe
  • NP_001394861.1:p.Leu100Phe
  • NP_001394862.1:p.Leu100Phe
  • NP_001394863.1:p.Leu100Phe
  • NP_001394864.1:p.Leu100Phe
  • NP_001394865.1:p.Leu100Phe
  • NP_001394866.1:p.Leu147Phe
  • NP_001394867.1:p.Leu147Phe
  • NP_001394868.1:p.Leu147Phe
  • NP_001394869.1:p.Leu147Phe
  • NP_001394870.1:p.Leu147Phe
  • NP_001394871.1:p.Leu100Phe
  • NP_001394872.1:p.Leu100Phe
  • NP_001394873.1:p.Leu100Phe
  • NP_001394874.1:p.Leu100Phe
  • NP_001394875.1:p.Leu77Phe
  • NP_001394876.1:p.Leu77Phe
  • NP_001394877.1:p.Leu77Phe
  • NP_001394878.1:p.Leu77Phe
  • NP_001394879.1:p.Leu77Phe
  • NP_001394880.1:p.Leu77Phe
  • NP_001394881.1:p.Leu77Phe
  • NP_001394882.1:p.Leu77Phe
  • NP_001394883.1:p.Leu77Phe
  • NP_001394884.1:p.Leu77Phe
  • NP_001394885.1:p.Leu77Phe
  • NP_001394886.1:p.Leu77Phe
  • NP_001394887.1:p.Leu77Phe
  • NP_001394888.1:p.Leu20Phe
  • NP_001394889.1:p.Leu20Phe
  • NP_001394891.1:p.Leu20Phe
  • NP_001394892.1:p.Leu20Phe
  • NP_001394893.1:p.Leu100Phe
  • NP_001394894.1:p.Leu20Phe
  • NP_001394897.1:p.Leu147Phe
  • NP_001394898.1:p.Leu147Phe
  • NP_001394899.1:p.Leu147Phe
  • NP_001394900.1:p.Leu147Phe
  • NP_001394901.1:p.Leu147Phe
  • NP_001394902.1:p.Leu147Phe
  • NP_001394903.1:p.Leu147Phe
  • NP_001394904.1:p.Leu147Phe
  • NP_001394905.1:p.Leu147Phe
  • NP_001394906.1:p.Leu147Phe
  • NP_001394907.1:p.Leu147Phe
  • NP_001394908.1:p.Leu147Phe
  • NP_001394909.1:p.Leu147Phe
  • NP_001394910.1:p.Leu147Phe
  • NP_001394911.1:p.Leu147Phe
  • NP_001394912.1:p.Leu147Phe
  • NP_001394913.1:p.Leu147Phe
  • NP_001394914.1:p.Leu147Phe
  • NP_001394915.1:p.Leu147Phe
  • NP_001394919.1:p.Leu147Phe
  • NP_001394920.1:p.Leu147Phe
  • NP_001394921.1:p.Leu147Phe
  • NP_001394922.1:p.Leu147Phe
  • NP_001395321.1:p.Leu147Phe
  • NP_001395325.1:p.Leu147Phe
  • NP_001395326.1:p.Leu147Phe
  • NP_001395327.1:p.Leu147Phe
  • NP_001395328.1:p.Leu147Phe
  • NP_001395329.1:p.Leu147Phe
  • NP_001395330.1:p.Leu147Phe
  • NP_001395331.1:p.Leu147Phe
  • NP_001395332.1:p.Leu147Phe
  • NP_001395333.1:p.Leu147Phe
  • NP_001395335.1:p.Leu147Phe
  • NP_001395336.1:p.Leu147Phe
  • NP_001395337.1:p.Leu144Phe
  • NP_001395338.1:p.Leu121Phe
  • NP_001395339.1:p.Leu100Phe
  • NP_001395340.1:p.Leu121Phe
  • NP_001395341.1:p.Leu121Phe
  • NP_001395342.1:p.Leu121Phe
  • NP_001395343.1:p.Leu121Phe
  • NP_001395344.1:p.Leu121Phe
  • NP_001395345.1:p.Leu121Phe
  • NP_001395347.1:p.Leu147Phe
  • NP_001395348.1:p.Leu147Phe
  • NP_001395349.1:p.Leu147Phe
  • NP_001395350.1:p.Leu147Phe
  • NP_001395351.1:p.Leu147Phe
  • NP_001395352.1:p.Leu147Phe
  • NP_001395353.1:p.Leu147Phe
  • NP_001395354.1:p.Leu147Phe
  • NP_001395355.1:p.Leu147Phe
  • NP_001395356.1:p.Leu147Phe
  • NP_001395357.1:p.Leu147Phe
  • NP_001395358.1:p.Leu147Phe
  • NP_001395359.1:p.Leu147Phe
  • NP_001395360.1:p.Leu147Phe
  • NP_001395361.1:p.Leu147Phe
  • NP_001395362.1:p.Leu147Phe
  • NP_001395363.1:p.Leu147Phe
  • NP_001395364.1:p.Leu147Phe
  • NP_001395365.1:p.Leu147Phe
  • NP_001395366.1:p.Leu147Phe
  • NP_001395367.1:p.Leu147Phe
  • NP_001395368.1:p.Leu147Phe
  • NP_001395369.1:p.Leu147Phe
  • NP_001395370.1:p.Leu147Phe
  • NP_001395371.1:p.Leu147Phe
  • NP_001395372.1:p.Leu147Phe
  • NP_001395373.1:p.Leu147Phe
  • NP_001395374.1:p.Leu147Phe
  • NP_001395375.1:p.Leu147Phe
  • NP_001395376.1:p.Leu147Phe
  • NP_001395377.1:p.Leu147Phe
  • NP_001395379.1:p.Leu147Phe
  • NP_001395380.1:p.Leu103Phe
  • NP_001395381.1:p.Leu100Phe
  • NP_001395382.1:p.Leu100Phe
  • NP_001395383.1:p.Leu100Phe
  • NP_001395384.1:p.Leu100Phe
  • NP_001395385.1:p.Leu100Phe
  • NP_001395386.1:p.Leu100Phe
  • NP_001395387.1:p.Leu100Phe
  • NP_001395388.1:p.Leu100Phe
  • NP_001395389.1:p.Leu100Phe
  • NP_001395390.1:p.Leu100Phe
  • NP_001395391.1:p.Leu100Phe
  • NP_001395392.1:p.Leu100Phe
  • NP_001395393.1:p.Leu100Phe
  • NP_001395394.1:p.Leu100Phe
  • NP_001395395.1:p.Leu100Phe
  • NP_001395396.1:p.Leu100Phe
  • NP_001395397.1:p.Leu100Phe
  • NP_001395398.1:p.Leu100Phe
  • NP_001395399.1:p.Leu100Phe
  • NP_001395401.1:p.Leu147Phe
  • NP_001395402.1:p.Leu147Phe
  • NP_001395403.1:p.Leu121Phe
  • NP_001395404.1:p.Leu121Phe
  • NP_001395405.1:p.Leu121Phe
  • NP_001395407.1:p.Leu77Phe
  • NP_001395408.1:p.Leu77Phe
  • NP_001395409.1:p.Leu77Phe
  • NP_001395410.1:p.Leu77Phe
  • NP_001395411.1:p.Leu77Phe
  • NP_001395412.1:p.Leu77Phe
  • NP_001395413.1:p.Leu77Phe
  • NP_001395414.1:p.Leu77Phe
  • NP_001395418.1:p.Leu77Phe
  • NP_001395419.1:p.Leu77Phe
  • NP_001395420.1:p.Leu77Phe
  • NP_001395421.1:p.Leu77Phe
  • NP_001395422.1:p.Leu77Phe
  • NP_001395423.1:p.Leu147Phe
  • NP_001395424.1:p.Leu147Phe
  • NP_001395425.1:p.Leu100Phe
  • NP_001395426.1:p.Leu100Phe
  • NP_001395427.1:p.Leu100Phe
  • NP_001395428.1:p.Leu100Phe
  • NP_001395429.1:p.Leu100Phe
  • NP_001395430.1:p.Leu100Phe
  • NP_001395431.1:p.Leu77Phe
  • NP_001395432.1:p.Leu100Phe
  • NP_001395433.1:p.Leu100Phe
  • NP_001395434.1:p.Leu100Phe
  • NP_001395435.1:p.Leu77Phe
  • NP_001395436.1:p.Leu77Phe
  • NP_001395437.1:p.Leu77Phe
  • NP_001395438.1:p.Leu77Phe
  • NP_001395439.1:p.Leu20Phe
  • NP_001395440.1:p.Leu100Phe
  • NP_001395441.1:p.Leu20Phe
  • NP_001395442.1:p.Leu77Phe
  • NP_001395443.1:p.Leu77Phe
  • NP_009225.1:p.Leu147Phe
  • NP_009225.1:p.Leu147Phe
  • NP_009228.2:p.Leu100Phe
  • NP_009229.2:p.Leu147Phe
  • NP_009229.2:p.Leu147Phe
  • NP_009230.2:p.Leu147Phe
  • NP_009231.2:p.Leu147Phe
  • NP_009235.2:p.Leu147Phe
  • LRG_292t1:c.441G>C
  • LRG_292:g.113862G>C
  • LRG_292p1:p.Leu147Phe
  • NC_000017.10:g.41256139C>G
  • NM_007294.3:c.441G>C
  • NM_007298.3:c.441G>C
  • NR_027676.2:n.621G>C
  • P38398:p.Leu147Phe
Protein change:
L100F
Links:
UniProtKB: P38398#VAR_070464; dbSNP: rs748876625
NCBI 1000 Genomes Browser:
rs748876625
Molecular consequence:
  • NM_001407571.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.432G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.432G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.60G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.60G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.60G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.60G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.60G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.432G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.309G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.363G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.60G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.60G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.231G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.441G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.621G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000605876Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Aug 25, 2016) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV001160449ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Apr 4, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Variants of uncertain significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling.

Moghadasi S, Hofland N, Wouts JN, Hogervorst FB, Wijnen JT, Vreeswijk MP, van Asperen CJ.

J Med Genet. 2013 Feb;50(2):74-9. doi: 10.1136/jmedgenet-2012-100961. Epub 2012 Dec 11.

PubMed [citation]
PMID:
23231788

A high-throughput functional complementation assay for classification of BRCA1 missense variants.

Bouwman P, van der Gulden H, van der Heijden I, Drost R, Klijn CN, Prasetyanti P, Pieterse M, Wientjens E, Seibler J, Hogervorst FB, Jonkers J.

Cancer Discov. 2013 Oct;3(10):1142-55. doi: 10.1158/2159-8290.CD-13-0094. Epub 2013 Jul 18.

PubMed [citation]
PMID:
23867111
See all PubMed Citations (5)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000605876.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001160449.1

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

Description

The BRCA1 c.441G>C; p.Leu147Phe variant (rs748876625) is reported in the literature in individuals with hereditary breast and ovarian cancer syndrome (Michils 2012, Moghadasi 2013), and reported multiple times in the LOVD BRCA1 database (see link). This variant is also reported in ClinVar (Variation ID: 220023). One functional study suggests the variant is neutral based on its ability to restore growth and cisplatin sensitivity in BRCA-null mouse embryonic stem cells (Bouwman 2013). However, another functional study suggests the variant is deleterious as the variant protein displays decreased E3 ligase activity compared to wild type protein (Starita 2015). This variant is found in the general population with an overall allele frequency of 0.002% (5/281702 alleles) in the Genome Aggregation Database. The leucine at codon 147 is highly conserved and the variant is located in the last nucleotide of the exon. Computational analyses (SIFT, PolyPhen-2, Alamut v.2.11) predict that this variant is deleterious and may alter splicing by weakening the nearby canonical donor splice site. However, based on available information, the significance of this variant is uncertain at this time. REFERENCES Bouwman P et al. A high-throughput functional complementation assay for classification of BRCA1 missense variants. Cancer Discov. 2013 Oct;3(10):1142-55. Link to LOVD BRCA1 database: https://databases.lovd.nl/shared/variants/BRCA1#object_id=VariantOnTranscript%2CVariantOnGenome&id=BRCA1&order=VariantOnTranscript%2FDNA%2CASC&search_transcriptid=00003478&search_VariantOnTranscript/DNA=c.441G%3EC&page_size=100&page=1 Michils G et al. Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing. J Mol Diagn. 2012 Nov;14(6):623-30. Moghadasi S et al. Variants of uncertain significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling. J Med Genet. 2013 Feb;50(2):74-9. Starita LM et al. Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. Genetics. 2015 Jun;200(2):413-22.

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

Last Updated: Oct 8, 2024