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NM_007294.4(BRCA1):c.127T>C (p.Phe43Leu) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2021
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:
RCV002524949.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.127T>C (p.Phe43Leu)]

NM_007294.4(BRCA1):c.127T>C (p.Phe43Leu)

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.127T>C (p.Phe43Leu)
HGVS:
  • NC_000017.11:g.43115733A>G
  • NG_005905.2:g.102251T>C
  • NM_001407571.1:c.-62T>C
  • NM_001407581.1:c.127T>C
  • NM_001407582.1:c.127T>C
  • NM_001407583.1:c.127T>C
  • NM_001407585.1:c.127T>C
  • NM_001407587.1:c.127T>C
  • NM_001407590.1:c.127T>C
  • NM_001407591.1:c.127T>C
  • NM_001407593.1:c.127T>C
  • NM_001407594.1:c.127T>C
  • NM_001407596.1:c.127T>C
  • NM_001407597.1:c.127T>C
  • NM_001407598.1:c.127T>C
  • NM_001407602.1:c.127T>C
  • NM_001407603.1:c.127T>C
  • NM_001407605.1:c.127T>C
  • NM_001407610.1:c.127T>C
  • NM_001407611.1:c.127T>C
  • NM_001407612.1:c.127T>C
  • NM_001407613.1:c.127T>C
  • NM_001407614.1:c.127T>C
  • NM_001407615.1:c.127T>C
  • NM_001407616.1:c.127T>C
  • NM_001407617.1:c.127T>C
  • NM_001407618.1:c.127T>C
  • NM_001407619.1:c.127T>C
  • NM_001407620.1:c.127T>C
  • NM_001407621.1:c.127T>C
  • NM_001407622.1:c.127T>C
  • NM_001407623.1:c.127T>C
  • NM_001407624.1:c.127T>C
  • NM_001407625.1:c.127T>C
  • NM_001407626.1:c.127T>C
  • NM_001407627.1:c.127T>C
  • NM_001407628.1:c.127T>C
  • NM_001407629.1:c.127T>C
  • NM_001407630.1:c.127T>C
  • NM_001407631.1:c.127T>C
  • NM_001407632.1:c.127T>C
  • NM_001407633.1:c.127T>C
  • NM_001407634.1:c.127T>C
  • NM_001407635.1:c.127T>C
  • NM_001407636.1:c.127T>C
  • NM_001407637.1:c.127T>C
  • NM_001407638.1:c.127T>C
  • NM_001407639.1:c.127T>C
  • NM_001407640.1:c.127T>C
  • NM_001407641.1:c.127T>C
  • NM_001407642.1:c.127T>C
  • NM_001407644.1:c.127T>C
  • NM_001407645.1:c.127T>C
  • NM_001407646.1:c.127T>C
  • NM_001407647.1:c.127T>C
  • NM_001407648.1:c.127T>C
  • NM_001407649.1:c.127T>C
  • NM_001407652.1:c.127T>C
  • NM_001407653.1:c.127T>C
  • NM_001407654.1:c.127T>C
  • NM_001407655.1:c.127T>C
  • NM_001407656.1:c.127T>C
  • NM_001407657.1:c.127T>C
  • NM_001407658.1:c.127T>C
  • NM_001407659.1:c.127T>C
  • NM_001407660.1:c.127T>C
  • NM_001407661.1:c.127T>C
  • NM_001407662.1:c.127T>C
  • NM_001407663.1:c.127T>C
  • NM_001407664.1:c.127T>C
  • NM_001407665.1:c.127T>C
  • NM_001407666.1:c.127T>C
  • NM_001407667.1:c.127T>C
  • NM_001407668.1:c.127T>C
  • NM_001407669.1:c.127T>C
  • NM_001407670.1:c.127T>C
  • NM_001407671.1:c.127T>C
  • NM_001407672.1:c.127T>C
  • NM_001407673.1:c.127T>C
  • NM_001407674.1:c.127T>C
  • NM_001407675.1:c.127T>C
  • NM_001407676.1:c.127T>C
  • NM_001407677.1:c.127T>C
  • NM_001407678.1:c.127T>C
  • NM_001407679.1:c.127T>C
  • NM_001407680.1:c.127T>C
  • NM_001407681.1:c.127T>C
  • NM_001407682.1:c.127T>C
  • NM_001407683.1:c.127T>C
  • NM_001407684.1:c.127T>C
  • NM_001407685.1:c.127T>C
  • NM_001407686.1:c.127T>C
  • NM_001407687.1:c.127T>C
  • NM_001407688.1:c.127T>C
  • NM_001407689.1:c.127T>C
  • NM_001407690.1:c.127T>C
  • NM_001407691.1:c.127T>C
  • NM_001407694.1:c.-131T>C
  • NM_001407695.1:c.-135T>C
  • NM_001407696.1:c.-131T>C
  • NM_001407697.1:c.-15T>C
  • NM_001407724.1:c.-131T>C
  • NM_001407725.1:c.-15T>C
  • NM_001407727.1:c.-131T>C
  • NM_001407728.1:c.-15T>C
  • NM_001407729.1:c.-15T>C
  • NM_001407730.1:c.-15T>C
  • NM_001407731.1:c.-131T>C
  • NM_001407733.1:c.-131T>C
  • NM_001407734.1:c.-15T>C
  • NM_001407735.1:c.-15T>C
  • NM_001407737.1:c.-15T>C
  • NM_001407739.1:c.-15T>C
  • NM_001407740.1:c.-15T>C
  • NM_001407741.1:c.-15T>C
  • NM_001407743.1:c.-15T>C
  • NM_001407745.1:c.-15T>C
  • NM_001407746.1:c.-131T>C
  • NM_001407748.1:c.-15T>C
  • NM_001407749.1:c.-131T>C
  • NM_001407752.1:c.-15T>C
  • NM_001407838.1:c.-15T>C
  • NM_001407839.1:c.-15T>C
  • NM_001407841.1:c.-11T>C
  • NM_001407842.1:c.-131T>C
  • NM_001407843.1:c.-131T>C
  • NM_001407844.1:c.-15T>C
  • NM_001407846.1:c.-15T>C
  • NM_001407847.1:c.-15T>C
  • NM_001407848.1:c.-15T>C
  • NM_001407850.1:c.-15T>C
  • NM_001407851.1:c.-15T>C
  • NM_001407853.1:c.-62T>C
  • NM_001407854.1:c.127T>C
  • NM_001407858.1:c.127T>C
  • NM_001407859.1:c.127T>C
  • NM_001407860.1:c.127T>C
  • NM_001407861.1:c.127T>C
  • NM_001407862.1:c.127T>C
  • NM_001407863.1:c.127T>C
  • NM_001407874.1:c.127T>C
  • NM_001407875.1:c.127T>C
  • NM_001407879.1:c.-62T>C
  • NM_001407882.1:c.-62T>C
  • NM_001407884.1:c.-62T>C
  • NM_001407885.1:c.-62T>C
  • NM_001407886.1:c.-62T>C
  • NM_001407887.1:c.-62T>C
  • NM_001407889.1:c.-178T>C
  • NM_001407894.1:c.-62T>C
  • NM_001407895.1:c.-62T>C
  • NM_001407896.1:c.-62T>C
  • NM_001407897.1:c.-62T>C
  • NM_001407899.1:c.-62T>C
  • NM_001407900.1:c.-178T>C
  • NM_001407904.1:c.-62T>C
  • NM_001407906.1:c.-62T>C
  • NM_001407907.1:c.-62T>C
  • NM_001407908.1:c.-62T>C
  • NM_001407909.1:c.-62T>C
  • NM_001407910.1:c.-62T>C
  • NM_001407915.1:c.-62T>C
  • NM_001407916.1:c.-62T>C
  • NM_001407917.1:c.-62T>C
  • NM_001407918.1:c.-62T>C
  • NM_001407919.1:c.127T>C
  • NM_001407920.1:c.-15T>C
  • NM_001407921.1:c.-15T>C
  • NM_001407922.1:c.-15T>C
  • NM_001407923.1:c.-15T>C
  • NM_001407926.1:c.-15T>C
  • NM_001407927.1:c.-15T>C
  • NM_001407930.1:c.-131T>C
  • NM_001407933.1:c.-15T>C
  • NM_001407934.1:c.-15T>C
  • NM_001407935.1:c.-15T>C
  • NM_001407937.1:c.127T>C
  • NM_001407938.1:c.127T>C
  • NM_001407939.1:c.127T>C
  • NM_001407940.1:c.127T>C
  • NM_001407941.1:c.127T>C
  • NM_001407942.1:c.-131T>C
  • NM_001407943.1:c.-15T>C
  • NM_001407944.1:c.-15T>C
  • NM_001407946.1:c.-62T>C
  • NM_001407947.1:c.-62T>C
  • NM_001407948.1:c.-62T>C
  • NM_001407949.1:c.-62T>C
  • NM_001407950.1:c.-62T>C
  • NM_001407951.1:c.-62T>C
  • NM_001407952.1:c.-62T>C
  • NM_001407953.1:c.-62T>C
  • NM_001407954.1:c.-62T>C
  • NM_001407955.1:c.-62T>C
  • NM_001407956.1:c.-62T>C
  • NM_001407957.1:c.-62T>C
  • NM_001407958.1:c.-62T>C
  • NM_001407960.1:c.-177T>C
  • NM_001407962.1:c.-177T>C
  • NM_001407964.1:c.-15T>C
  • NM_001407965.1:c.-293T>C
  • NM_001407968.1:c.127T>C
  • NM_001407969.1:c.127T>C
  • NM_001407970.1:c.127T>C
  • NM_001407971.1:c.127T>C
  • NM_001407972.1:c.127T>C
  • NM_001407973.1:c.127T>C
  • NM_001407974.1:c.127T>C
  • NM_001407975.1:c.127T>C
  • NM_001407976.1:c.127T>C
  • NM_001407977.1:c.127T>C
  • NM_001407978.1:c.127T>C
  • NM_001407979.1:c.127T>C
  • NM_001407980.1:c.127T>C
  • NM_001407981.1:c.127T>C
  • NM_001407982.1:c.127T>C
  • NM_001407983.1:c.127T>C
  • NM_001407984.1:c.127T>C
  • NM_001407985.1:c.127T>C
  • NM_001407986.1:c.127T>C
  • NM_001407990.1:c.127T>C
  • NM_001407991.1:c.127T>C
  • NM_001407992.1:c.127T>C
  • NM_001407993.1:c.127T>C
  • NM_001408392.1:c.127T>C
  • NM_001408396.1:c.127T>C
  • NM_001408397.1:c.127T>C
  • NM_001408398.1:c.127T>C
  • NM_001408399.1:c.127T>C
  • NM_001408400.1:c.127T>C
  • NM_001408401.1:c.127T>C
  • NM_001408402.1:c.127T>C
  • NM_001408403.1:c.127T>C
  • NM_001408404.1:c.127T>C
  • NM_001408406.1:c.127T>C
  • NM_001408407.1:c.127T>C
  • NM_001408408.1:c.127T>C
  • NM_001408409.1:c.127T>C
  • NM_001408410.1:c.-15T>C
  • NM_001408411.1:c.127T>C
  • NM_001408412.1:c.127T>C
  • NM_001408413.1:c.127T>C
  • NM_001408414.1:c.127T>C
  • NM_001408415.1:c.127T>C
  • NM_001408416.1:c.127T>C
  • NM_001408418.1:c.127T>C
  • NM_001408419.1:c.127T>C
  • NM_001408420.1:c.127T>C
  • NM_001408421.1:c.127T>C
  • NM_001408422.1:c.127T>C
  • NM_001408423.1:c.127T>C
  • NM_001408424.1:c.127T>C
  • NM_001408425.1:c.127T>C
  • NM_001408426.1:c.127T>C
  • NM_001408427.1:c.127T>C
  • NM_001408428.1:c.127T>C
  • NM_001408429.1:c.127T>C
  • NM_001408430.1:c.127T>C
  • NM_001408431.1:c.127T>C
  • NM_001408432.1:c.127T>C
  • NM_001408433.1:c.127T>C
  • NM_001408434.1:c.127T>C
  • NM_001408435.1:c.127T>C
  • NM_001408436.1:c.127T>C
  • NM_001408437.1:c.127T>C
  • NM_001408438.1:c.127T>C
  • NM_001408439.1:c.127T>C
  • NM_001408440.1:c.127T>C
  • NM_001408441.1:c.127T>C
  • NM_001408442.1:c.127T>C
  • NM_001408443.1:c.127T>C
  • NM_001408444.1:c.127T>C
  • NM_001408445.1:c.127T>C
  • NM_001408446.1:c.127T>C
  • NM_001408447.1:c.127T>C
  • NM_001408448.1:c.127T>C
  • NM_001408450.1:c.127T>C
  • NM_001408452.1:c.-15T>C
  • NM_001408453.1:c.-15T>C
  • NM_001408455.1:c.-131T>C
  • NM_001408456.1:c.-131T>C
  • NM_001408458.1:c.-15T>C
  • NM_001408462.1:c.-15T>C
  • NM_001408463.1:c.-15T>C
  • NM_001408465.1:c.-135T>C
  • NM_001408466.1:c.-15T>C
  • NM_001408468.1:c.-131T>C
  • NM_001408469.1:c.-15T>C
  • NM_001408470.1:c.-15T>C
  • NM_001408472.1:c.127T>C
  • NM_001408473.1:c.127T>C
  • NM_001408474.1:c.127T>C
  • NM_001408475.1:c.127T>C
  • NM_001408476.1:c.127T>C
  • NM_001408478.1:c.-62T>C
  • NM_001408479.1:c.-62T>C
  • NM_001408480.1:c.-62T>C
  • NM_001408481.1:c.-62T>C
  • NM_001408482.1:c.-62T>C
  • NM_001408483.1:c.-62T>C
  • NM_001408484.1:c.-62T>C
  • NM_001408485.1:c.-62T>C
  • NM_001408489.1:c.-62T>C
  • NM_001408490.1:c.-62T>C
  • NM_001408491.1:c.-62T>C
  • NM_001408492.1:c.-178T>C
  • NM_001408493.1:c.-62T>C
  • NM_001408494.1:c.127T>C
  • NM_001408495.1:c.127T>C
  • NM_001408497.1:c.-15T>C
  • NM_001408499.1:c.-15T>C
  • NM_001408500.1:c.-15T>C
  • NM_001408501.1:c.-131T>C
  • NM_001408502.1:c.-62T>C
  • NM_001408503.1:c.-15T>C
  • NM_001408504.1:c.-15T>C
  • NM_001408505.1:c.-15T>C
  • NM_001408506.1:c.-62T>C
  • NM_001408507.1:c.-62T>C
  • NM_001408508.1:c.-62T>C
  • NM_001408509.1:c.-62T>C
  • NM_001408510.1:c.-177T>C
  • NM_001408512.1:c.-177T>C
  • NM_001408513.1:c.-62T>C
  • NM_001408514.1:c.-62T>C
  • NM_007294.4:c.127T>CMANE SELECT
  • NM_007297.4:c.-8+8284T>C
  • NM_007298.4:c.127T>C
  • NM_007299.4:c.127T>C
  • NM_007300.4:c.127T>C
  • NM_007304.2:c.127T>C
  • NP_001394510.1:p.Phe43Leu
  • NP_001394511.1:p.Phe43Leu
  • NP_001394512.1:p.Phe43Leu
  • NP_001394514.1:p.Phe43Leu
  • NP_001394516.1:p.Phe43Leu
  • NP_001394519.1:p.Phe43Leu
  • NP_001394520.1:p.Phe43Leu
  • NP_001394522.1:p.Phe43Leu
  • NP_001394523.1:p.Phe43Leu
  • NP_001394525.1:p.Phe43Leu
  • NP_001394526.1:p.Phe43Leu
  • NP_001394527.1:p.Phe43Leu
  • NP_001394531.1:p.Phe43Leu
  • NP_001394532.1:p.Phe43Leu
  • NP_001394534.1:p.Phe43Leu
  • NP_001394539.1:p.Phe43Leu
  • NP_001394540.1:p.Phe43Leu
  • NP_001394541.1:p.Phe43Leu
  • NP_001394542.1:p.Phe43Leu
  • NP_001394543.1:p.Phe43Leu
  • NP_001394544.1:p.Phe43Leu
  • NP_001394545.1:p.Phe43Leu
  • NP_001394546.1:p.Phe43Leu
  • NP_001394547.1:p.Phe43Leu
  • NP_001394548.1:p.Phe43Leu
  • NP_001394549.1:p.Phe43Leu
  • NP_001394550.1:p.Phe43Leu
  • NP_001394551.1:p.Phe43Leu
  • NP_001394552.1:p.Phe43Leu
  • NP_001394553.1:p.Phe43Leu
  • NP_001394554.1:p.Phe43Leu
  • NP_001394555.1:p.Phe43Leu
  • NP_001394556.1:p.Phe43Leu
  • NP_001394557.1:p.Phe43Leu
  • NP_001394558.1:p.Phe43Leu
  • NP_001394559.1:p.Phe43Leu
  • NP_001394560.1:p.Phe43Leu
  • NP_001394561.1:p.Phe43Leu
  • NP_001394562.1:p.Phe43Leu
  • NP_001394563.1:p.Phe43Leu
  • NP_001394564.1:p.Phe43Leu
  • NP_001394565.1:p.Phe43Leu
  • NP_001394566.1:p.Phe43Leu
  • NP_001394567.1:p.Phe43Leu
  • NP_001394568.1:p.Phe43Leu
  • NP_001394569.1:p.Phe43Leu
  • NP_001394570.1:p.Phe43Leu
  • NP_001394571.1:p.Phe43Leu
  • NP_001394573.1:p.Phe43Leu
  • NP_001394574.1:p.Phe43Leu
  • NP_001394575.1:p.Phe43Leu
  • NP_001394576.1:p.Phe43Leu
  • NP_001394577.1:p.Phe43Leu
  • NP_001394578.1:p.Phe43Leu
  • NP_001394581.1:p.Phe43Leu
  • NP_001394582.1:p.Phe43Leu
  • NP_001394583.1:p.Phe43Leu
  • NP_001394584.1:p.Phe43Leu
  • NP_001394585.1:p.Phe43Leu
  • NP_001394586.1:p.Phe43Leu
  • NP_001394587.1:p.Phe43Leu
  • NP_001394588.1:p.Phe43Leu
  • NP_001394589.1:p.Phe43Leu
  • NP_001394590.1:p.Phe43Leu
  • NP_001394591.1:p.Phe43Leu
  • NP_001394592.1:p.Phe43Leu
  • NP_001394593.1:p.Phe43Leu
  • NP_001394594.1:p.Phe43Leu
  • NP_001394595.1:p.Phe43Leu
  • NP_001394596.1:p.Phe43Leu
  • NP_001394597.1:p.Phe43Leu
  • NP_001394598.1:p.Phe43Leu
  • NP_001394599.1:p.Phe43Leu
  • NP_001394600.1:p.Phe43Leu
  • NP_001394601.1:p.Phe43Leu
  • NP_001394602.1:p.Phe43Leu
  • NP_001394603.1:p.Phe43Leu
  • NP_001394604.1:p.Phe43Leu
  • NP_001394605.1:p.Phe43Leu
  • NP_001394606.1:p.Phe43Leu
  • NP_001394607.1:p.Phe43Leu
  • NP_001394608.1:p.Phe43Leu
  • NP_001394609.1:p.Phe43Leu
  • NP_001394610.1:p.Phe43Leu
  • NP_001394611.1:p.Phe43Leu
  • NP_001394612.1:p.Phe43Leu
  • NP_001394613.1:p.Phe43Leu
  • NP_001394614.1:p.Phe43Leu
  • NP_001394615.1:p.Phe43Leu
  • NP_001394616.1:p.Phe43Leu
  • NP_001394617.1:p.Phe43Leu
  • NP_001394618.1:p.Phe43Leu
  • NP_001394619.1:p.Phe43Leu
  • NP_001394620.1:p.Phe43Leu
  • NP_001394783.1:p.Phe43Leu
  • NP_001394787.1:p.Phe43Leu
  • NP_001394788.1:p.Phe43Leu
  • NP_001394789.1:p.Phe43Leu
  • NP_001394790.1:p.Phe43Leu
  • NP_001394791.1:p.Phe43Leu
  • NP_001394792.1:p.Phe43Leu
  • NP_001394803.1:p.Phe43Leu
  • NP_001394804.1:p.Phe43Leu
  • NP_001394848.1:p.Phe43Leu
  • NP_001394866.1:p.Phe43Leu
  • NP_001394867.1:p.Phe43Leu
  • NP_001394868.1:p.Phe43Leu
  • NP_001394869.1:p.Phe43Leu
  • NP_001394870.1:p.Phe43Leu
  • NP_001394897.1:p.Phe43Leu
  • NP_001394898.1:p.Phe43Leu
  • NP_001394899.1:p.Phe43Leu
  • NP_001394900.1:p.Phe43Leu
  • NP_001394901.1:p.Phe43Leu
  • NP_001394902.1:p.Phe43Leu
  • NP_001394903.1:p.Phe43Leu
  • NP_001394904.1:p.Phe43Leu
  • NP_001394905.1:p.Phe43Leu
  • NP_001394906.1:p.Phe43Leu
  • NP_001394907.1:p.Phe43Leu
  • NP_001394908.1:p.Phe43Leu
  • NP_001394909.1:p.Phe43Leu
  • NP_001394910.1:p.Phe43Leu
  • NP_001394911.1:p.Phe43Leu
  • NP_001394912.1:p.Phe43Leu
  • NP_001394913.1:p.Phe43Leu
  • NP_001394914.1:p.Phe43Leu
  • NP_001394915.1:p.Phe43Leu
  • NP_001394919.1:p.Phe43Leu
  • NP_001394920.1:p.Phe43Leu
  • NP_001394921.1:p.Phe43Leu
  • NP_001394922.1:p.Phe43Leu
  • NP_001395321.1:p.Phe43Leu
  • NP_001395325.1:p.Phe43Leu
  • NP_001395326.1:p.Phe43Leu
  • NP_001395327.1:p.Phe43Leu
  • NP_001395328.1:p.Phe43Leu
  • NP_001395329.1:p.Phe43Leu
  • NP_001395330.1:p.Phe43Leu
  • NP_001395331.1:p.Phe43Leu
  • NP_001395332.1:p.Phe43Leu
  • NP_001395333.1:p.Phe43Leu
  • NP_001395335.1:p.Phe43Leu
  • NP_001395336.1:p.Phe43Leu
  • NP_001395337.1:p.Phe43Leu
  • NP_001395338.1:p.Phe43Leu
  • NP_001395340.1:p.Phe43Leu
  • NP_001395341.1:p.Phe43Leu
  • NP_001395342.1:p.Phe43Leu
  • NP_001395343.1:p.Phe43Leu
  • NP_001395344.1:p.Phe43Leu
  • NP_001395345.1:p.Phe43Leu
  • NP_001395347.1:p.Phe43Leu
  • NP_001395348.1:p.Phe43Leu
  • NP_001395349.1:p.Phe43Leu
  • NP_001395350.1:p.Phe43Leu
  • NP_001395351.1:p.Phe43Leu
  • NP_001395352.1:p.Phe43Leu
  • NP_001395353.1:p.Phe43Leu
  • NP_001395354.1:p.Phe43Leu
  • NP_001395355.1:p.Phe43Leu
  • NP_001395356.1:p.Phe43Leu
  • NP_001395357.1:p.Phe43Leu
  • NP_001395358.1:p.Phe43Leu
  • NP_001395359.1:p.Phe43Leu
  • NP_001395360.1:p.Phe43Leu
  • NP_001395361.1:p.Phe43Leu
  • NP_001395362.1:p.Phe43Leu
  • NP_001395363.1:p.Phe43Leu
  • NP_001395364.1:p.Phe43Leu
  • NP_001395365.1:p.Phe43Leu
  • NP_001395366.1:p.Phe43Leu
  • NP_001395367.1:p.Phe43Leu
  • NP_001395368.1:p.Phe43Leu
  • NP_001395369.1:p.Phe43Leu
  • NP_001395370.1:p.Phe43Leu
  • NP_001395371.1:p.Phe43Leu
  • NP_001395372.1:p.Phe43Leu
  • NP_001395373.1:p.Phe43Leu
  • NP_001395374.1:p.Phe43Leu
  • NP_001395375.1:p.Phe43Leu
  • NP_001395376.1:p.Phe43Leu
  • NP_001395377.1:p.Phe43Leu
  • NP_001395379.1:p.Phe43Leu
  • NP_001395401.1:p.Phe43Leu
  • NP_001395402.1:p.Phe43Leu
  • NP_001395403.1:p.Phe43Leu
  • NP_001395404.1:p.Phe43Leu
  • NP_001395405.1:p.Phe43Leu
  • NP_001395423.1:p.Phe43Leu
  • NP_001395424.1:p.Phe43Leu
  • NP_009225.1:p.Phe43Leu
  • NP_009225.1:p.Phe43Leu
  • NP_009229.2:p.Phe43Leu
  • NP_009229.2:p.Phe43Leu
  • NP_009230.2:p.Phe43Leu
  • NP_009231.2:p.Phe43Leu
  • NP_009235.2:p.Phe43Leu
  • LRG_292t1:c.127T>C
  • LRG_292:g.102251T>C
  • LRG_292p1:p.Phe43Leu
  • NC_000017.10:g.41267750A>G
  • NM_007294.3:c.127T>C
  • NM_007298.3:c.127T>C
  • NR_027676.2:n.329T>C
Protein change:
F43L
Links:
dbSNP: rs1555599214
NCBI 1000 Genomes Browser:
rs1555599214
Molecular consequence:
  • NM_007297.4:c.-8+8284T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.329T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
function_uncertain_variant [Sequence Ontology: SO:0002220] - Comment(s)

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002976406Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 12, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002976406.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change replaces phenylalanine with leucine at codon 43 of the BRCA1 protein (p.Phe43Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 441319). Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is expected to disrupt BRCA1 protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA1 function (PMID: 30209399). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 8, 2024