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NM_007294.4(BRCA1):c.4093T>G (p.Leu1365Val) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 24, 2023
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:
RCV003530112.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.4093T>G (p.Leu1365Val)]

NM_007294.4(BRCA1):c.4093T>G (p.Leu1365Val)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4093T>G (p.Leu1365Val)
HGVS:
  • NC_000017.11:g.43091438A>C
  • NG_005905.2:g.126546T>G
  • NG_087068.1:g.420A>C
  • NM_001407571.1:c.3880T>G
  • NM_001407581.1:c.4093T>G
  • NM_001407582.1:c.4093T>G
  • NM_001407583.1:c.4093T>G
  • NM_001407585.1:c.4093T>G
  • NM_001407587.1:c.4090T>G
  • NM_001407590.1:c.4090T>G
  • NM_001407591.1:c.4090T>G
  • NM_001407593.1:c.4093T>G
  • NM_001407594.1:c.4093T>G
  • NM_001407596.1:c.4093T>G
  • NM_001407597.1:c.4093T>G
  • NM_001407598.1:c.4093T>G
  • NM_001407602.1:c.4093T>G
  • NM_001407603.1:c.4093T>G
  • NM_001407605.1:c.4093T>G
  • NM_001407610.1:c.4090T>G
  • NM_001407611.1:c.4090T>G
  • NM_001407612.1:c.4090T>G
  • NM_001407613.1:c.4090T>G
  • NM_001407614.1:c.4090T>G
  • NM_001407615.1:c.4090T>G
  • NM_001407616.1:c.4093T>G
  • NM_001407617.1:c.4093T>G
  • NM_001407618.1:c.4093T>G
  • NM_001407619.1:c.4093T>G
  • NM_001407620.1:c.4093T>G
  • NM_001407621.1:c.4093T>G
  • NM_001407622.1:c.4093T>G
  • NM_001407623.1:c.4093T>G
  • NM_001407624.1:c.4093T>G
  • NM_001407625.1:c.4093T>G
  • NM_001407626.1:c.4093T>G
  • NM_001407627.1:c.4090T>G
  • NM_001407628.1:c.4090T>G
  • NM_001407629.1:c.4090T>G
  • NM_001407630.1:c.4090T>G
  • NM_001407631.1:c.4090T>G
  • NM_001407632.1:c.4090T>G
  • NM_001407633.1:c.4090T>G
  • NM_001407634.1:c.4090T>G
  • NM_001407635.1:c.4090T>G
  • NM_001407636.1:c.4090T>G
  • NM_001407637.1:c.4090T>G
  • NM_001407638.1:c.4090T>G
  • NM_001407639.1:c.4093T>G
  • NM_001407640.1:c.4093T>G
  • NM_001407641.1:c.4093T>G
  • NM_001407642.1:c.4093T>G
  • NM_001407644.1:c.4090T>G
  • NM_001407645.1:c.4090T>G
  • NM_001407646.1:c.4084T>G
  • NM_001407647.1:c.4084T>G
  • NM_001407648.1:c.3970T>G
  • NM_001407649.1:c.3967T>G
  • NM_001407652.1:c.4093T>G
  • NM_001407653.1:c.4015T>G
  • NM_001407654.1:c.4015T>G
  • NM_001407655.1:c.4015T>G
  • NM_001407656.1:c.4015T>G
  • NM_001407657.1:c.4015T>G
  • NM_001407658.1:c.4015T>G
  • NM_001407659.1:c.4012T>G
  • NM_001407660.1:c.4012T>G
  • NM_001407661.1:c.4012T>G
  • NM_001407662.1:c.4012T>G
  • NM_001407663.1:c.4015T>G
  • NM_001407664.1:c.3970T>G
  • NM_001407665.1:c.3970T>G
  • NM_001407666.1:c.3970T>G
  • NM_001407667.1:c.3970T>G
  • NM_001407668.1:c.3970T>G
  • NM_001407669.1:c.3970T>G
  • NM_001407670.1:c.3967T>G
  • NM_001407671.1:c.3967T>G
  • NM_001407672.1:c.3967T>G
  • NM_001407673.1:c.3967T>G
  • NM_001407674.1:c.3970T>G
  • NM_001407675.1:c.3970T>G
  • NM_001407676.1:c.3970T>G
  • NM_001407677.1:c.3970T>G
  • NM_001407678.1:c.3970T>G
  • NM_001407679.1:c.3970T>G
  • NM_001407680.1:c.3970T>G
  • NM_001407681.1:c.3970T>G
  • NM_001407682.1:c.3970T>G
  • NM_001407683.1:c.3970T>G
  • NM_001407684.1:c.4093T>G
  • NM_001407685.1:c.3967T>G
  • NM_001407686.1:c.3967T>G
  • NM_001407687.1:c.3967T>G
  • NM_001407688.1:c.3967T>G
  • NM_001407689.1:c.3967T>G
  • NM_001407690.1:c.3967T>G
  • NM_001407691.1:c.3967T>G
  • NM_001407692.1:c.3952T>G
  • NM_001407694.1:c.3952T>G
  • NM_001407695.1:c.3952T>G
  • NM_001407696.1:c.3952T>G
  • NM_001407697.1:c.3952T>G
  • NM_001407698.1:c.3952T>G
  • NM_001407724.1:c.3952T>G
  • NM_001407725.1:c.3952T>G
  • NM_001407726.1:c.3952T>G
  • NM_001407727.1:c.3952T>G
  • NM_001407728.1:c.3952T>G
  • NM_001407729.1:c.3952T>G
  • NM_001407730.1:c.3952T>G
  • NM_001407731.1:c.3952T>G
  • NM_001407732.1:c.3952T>G
  • NM_001407733.1:c.3952T>G
  • NM_001407734.1:c.3952T>G
  • NM_001407735.1:c.3952T>G
  • NM_001407736.1:c.3952T>G
  • NM_001407737.1:c.3952T>G
  • NM_001407738.1:c.3952T>G
  • NM_001407739.1:c.3952T>G
  • NM_001407740.1:c.3949T>G
  • NM_001407741.1:c.3949T>G
  • NM_001407742.1:c.3949T>G
  • NM_001407743.1:c.3949T>G
  • NM_001407744.1:c.3949T>G
  • NM_001407745.1:c.3949T>G
  • NM_001407746.1:c.3949T>G
  • NM_001407747.1:c.3949T>G
  • NM_001407748.1:c.3949T>G
  • NM_001407749.1:c.3949T>G
  • NM_001407750.1:c.3952T>G
  • NM_001407751.1:c.3952T>G
  • NM_001407752.1:c.3952T>G
  • NM_001407838.1:c.3949T>G
  • NM_001407839.1:c.3949T>G
  • NM_001407841.1:c.3949T>G
  • NM_001407842.1:c.3949T>G
  • NM_001407843.1:c.3949T>G
  • NM_001407844.1:c.3949T>G
  • NM_001407845.1:c.3949T>G
  • NM_001407846.1:c.3949T>G
  • NM_001407847.1:c.3949T>G
  • NM_001407848.1:c.3949T>G
  • NM_001407849.1:c.3949T>G
  • NM_001407850.1:c.3952T>G
  • NM_001407851.1:c.3952T>G
  • NM_001407852.1:c.3952T>G
  • NM_001407853.1:c.3880T>G
  • NM_001407854.1:c.4093T>G
  • NM_001407858.1:c.4093T>G
  • NM_001407859.1:c.4093T>G
  • NM_001407860.1:c.4090T>G
  • NM_001407861.1:c.4090T>G
  • NM_001407862.1:c.3892T>G
  • NM_001407863.1:c.3970T>G
  • NM_001407874.1:c.3889T>G
  • NM_001407875.1:c.3889T>G
  • NM_001407879.1:c.3883T>G
  • NM_001407881.1:c.3883T>G
  • NM_001407882.1:c.3883T>G
  • NM_001407884.1:c.3883T>G
  • NM_001407885.1:c.3883T>G
  • NM_001407886.1:c.3883T>G
  • NM_001407887.1:c.3883T>G
  • NM_001407889.1:c.3883T>G
  • NM_001407894.1:c.3880T>G
  • NM_001407895.1:c.3880T>G
  • NM_001407896.1:c.3880T>G
  • NM_001407897.1:c.3880T>G
  • NM_001407898.1:c.3880T>G
  • NM_001407899.1:c.3880T>G
  • NM_001407900.1:c.3883T>G
  • NM_001407902.1:c.3883T>G
  • NM_001407904.1:c.3883T>G
  • NM_001407906.1:c.3883T>G
  • NM_001407907.1:c.3883T>G
  • NM_001407908.1:c.3883T>G
  • NM_001407909.1:c.3883T>G
  • NM_001407910.1:c.3883T>G
  • NM_001407915.1:c.3880T>G
  • NM_001407916.1:c.3880T>G
  • NM_001407917.1:c.3880T>G
  • NM_001407918.1:c.3880T>G
  • NM_001407919.1:c.3970T>G
  • NM_001407920.1:c.3829T>G
  • NM_001407921.1:c.3829T>G
  • NM_001407922.1:c.3829T>G
  • NM_001407923.1:c.3829T>G
  • NM_001407924.1:c.3829T>G
  • NM_001407925.1:c.3829T>G
  • NM_001407926.1:c.3829T>G
  • NM_001407927.1:c.3829T>G
  • NM_001407928.1:c.3829T>G
  • NM_001407929.1:c.3829T>G
  • NM_001407930.1:c.3826T>G
  • NM_001407931.1:c.3826T>G
  • NM_001407932.1:c.3826T>G
  • NM_001407933.1:c.3829T>G
  • NM_001407934.1:c.3826T>G
  • NM_001407935.1:c.3829T>G
  • NM_001407936.1:c.3826T>G
  • NM_001407937.1:c.3970T>G
  • NM_001407938.1:c.3970T>G
  • NM_001407939.1:c.3970T>G
  • NM_001407940.1:c.3967T>G
  • NM_001407941.1:c.3967T>G
  • NM_001407942.1:c.3952T>G
  • NM_001407943.1:c.3949T>G
  • NM_001407944.1:c.3952T>G
  • NM_001407945.1:c.3952T>G
  • NM_001407946.1:c.3760T>G
  • NM_001407947.1:c.3760T>G
  • NM_001407948.1:c.3760T>G
  • NM_001407949.1:c.3760T>G
  • NM_001407950.1:c.3760T>G
  • NM_001407951.1:c.3760T>G
  • NM_001407952.1:c.3760T>G
  • NM_001407953.1:c.3760T>G
  • NM_001407954.1:c.3757T>G
  • NM_001407955.1:c.3757T>G
  • NM_001407956.1:c.3757T>G
  • NM_001407957.1:c.3760T>G
  • NM_001407958.1:c.3757T>G
  • NM_001407959.1:c.3712T>G
  • NM_001407960.1:c.3712T>G
  • NM_001407962.1:c.3709T>G
  • NM_001407963.1:c.3712T>G
  • NM_001407964.1:c.3949T>G
  • NM_001407965.1:c.3589T>G
  • NM_001407966.1:c.3205T>G
  • NM_001407967.1:c.3205T>G
  • NM_001407968.1:c.1489T>G
  • NM_001407969.1:c.1489T>G
  • NM_001407970.1:c.788-406T>G
  • NM_001407971.1:c.788-406T>G
  • NM_001407972.1:c.785-406T>G
  • NM_001407973.1:c.788-406T>G
  • NM_001407974.1:c.788-406T>G
  • NM_001407975.1:c.788-406T>G
  • NM_001407976.1:c.788-406T>G
  • NM_001407977.1:c.788-406T>G
  • NM_001407978.1:c.788-406T>G
  • NM_001407979.1:c.788-406T>G
  • NM_001407980.1:c.788-406T>G
  • NM_001407981.1:c.788-406T>G
  • NM_001407982.1:c.788-406T>G
  • NM_001407983.1:c.788-406T>G
  • NM_001407984.1:c.785-406T>G
  • NM_001407985.1:c.785-406T>G
  • NM_001407986.1:c.785-406T>G
  • NM_001407990.1:c.788-406T>G
  • NM_001407991.1:c.785-406T>G
  • NM_001407992.1:c.785-406T>G
  • NM_001407993.1:c.788-406T>G
  • NM_001408392.1:c.785-406T>G
  • NM_001408396.1:c.785-406T>G
  • NM_001408397.1:c.785-406T>G
  • NM_001408398.1:c.785-406T>G
  • NM_001408399.1:c.785-406T>G
  • NM_001408400.1:c.785-406T>G
  • NM_001408401.1:c.785-406T>G
  • NM_001408402.1:c.785-406T>G
  • NM_001408403.1:c.788-406T>G
  • NM_001408404.1:c.788-406T>G
  • NM_001408406.1:c.791-415T>G
  • NM_001408407.1:c.785-406T>G
  • NM_001408408.1:c.779-406T>G
  • NM_001408409.1:c.710-406T>G
  • NM_001408410.1:c.647-406T>G
  • NM_001408411.1:c.710-406T>G
  • NM_001408412.1:c.710-406T>G
  • NM_001408413.1:c.707-406T>G
  • NM_001408414.1:c.710-406T>G
  • NM_001408415.1:c.710-406T>G
  • NM_001408416.1:c.707-406T>G
  • NM_001408418.1:c.671-406T>G
  • NM_001408419.1:c.671-406T>G
  • NM_001408420.1:c.671-406T>G
  • NM_001408421.1:c.668-406T>G
  • NM_001408422.1:c.671-406T>G
  • NM_001408423.1:c.671-406T>G
  • NM_001408424.1:c.668-406T>G
  • NM_001408425.1:c.665-406T>G
  • NM_001408426.1:c.665-406T>G
  • NM_001408427.1:c.665-406T>G
  • NM_001408428.1:c.665-406T>G
  • NM_001408429.1:c.665-406T>G
  • NM_001408430.1:c.665-406T>G
  • NM_001408431.1:c.668-406T>G
  • NM_001408432.1:c.662-406T>G
  • NM_001408433.1:c.662-406T>G
  • NM_001408434.1:c.662-406T>G
  • NM_001408435.1:c.662-406T>G
  • NM_001408436.1:c.665-406T>G
  • NM_001408437.1:c.665-406T>G
  • NM_001408438.1:c.665-406T>G
  • NM_001408439.1:c.665-406T>G
  • NM_001408440.1:c.665-406T>G
  • NM_001408441.1:c.665-406T>G
  • NM_001408442.1:c.665-406T>G
  • NM_001408443.1:c.665-406T>G
  • NM_001408444.1:c.665-406T>G
  • NM_001408445.1:c.662-406T>G
  • NM_001408446.1:c.662-406T>G
  • NM_001408447.1:c.662-406T>G
  • NM_001408448.1:c.662-406T>G
  • NM_001408450.1:c.662-406T>G
  • NM_001408451.1:c.653-406T>G
  • NM_001408452.1:c.647-406T>G
  • NM_001408453.1:c.647-406T>G
  • NM_001408454.1:c.647-406T>G
  • NM_001408455.1:c.647-406T>G
  • NM_001408456.1:c.647-406T>G
  • NM_001408457.1:c.647-406T>G
  • NM_001408458.1:c.647-406T>G
  • NM_001408459.1:c.647-406T>G
  • NM_001408460.1:c.647-406T>G
  • NM_001408461.1:c.647-406T>G
  • NM_001408462.1:c.644-406T>G
  • NM_001408463.1:c.644-406T>G
  • NM_001408464.1:c.644-406T>G
  • NM_001408465.1:c.644-406T>G
  • NM_001408466.1:c.647-406T>G
  • NM_001408467.1:c.647-406T>G
  • NM_001408468.1:c.644-406T>G
  • NM_001408469.1:c.647-406T>G
  • NM_001408470.1:c.644-406T>G
  • NM_001408472.1:c.788-406T>G
  • NM_001408473.1:c.785-406T>G
  • NM_001408474.1:c.587-406T>G
  • NM_001408475.1:c.584-406T>G
  • NM_001408476.1:c.587-406T>G
  • NM_001408478.1:c.578-406T>G
  • NM_001408479.1:c.578-406T>G
  • NM_001408480.1:c.578-406T>G
  • NM_001408481.1:c.578-406T>G
  • NM_001408482.1:c.578-406T>G
  • NM_001408483.1:c.578-406T>G
  • NM_001408484.1:c.578-406T>G
  • NM_001408485.1:c.578-406T>G
  • NM_001408489.1:c.578-406T>G
  • NM_001408490.1:c.575-406T>G
  • NM_001408491.1:c.575-406T>G
  • NM_001408492.1:c.578-406T>G
  • NM_001408493.1:c.575-406T>G
  • NM_001408494.1:c.548-406T>G
  • NM_001408495.1:c.545-406T>G
  • NM_001408496.1:c.524-406T>G
  • NM_001408497.1:c.524-406T>G
  • NM_001408498.1:c.524-406T>G
  • NM_001408499.1:c.524-406T>G
  • NM_001408500.1:c.524-406T>G
  • NM_001408501.1:c.524-406T>G
  • NM_001408502.1:c.455-406T>G
  • NM_001408503.1:c.521-406T>G
  • NM_001408504.1:c.521-406T>G
  • NM_001408505.1:c.521-406T>G
  • NM_001408506.1:c.461-406T>G
  • NM_001408507.1:c.461-406T>G
  • NM_001408508.1:c.452-406T>G
  • NM_001408509.1:c.452-406T>G
  • NM_001408510.1:c.407-406T>G
  • NM_001408511.1:c.404-406T>G
  • NM_001408512.1:c.284-406T>G
  • NM_001408513.1:c.578-406T>G
  • NM_001408514.1:c.578-406T>G
  • NM_007294.4:c.4093T>GMANE SELECT
  • NM_007297.4:c.3952T>G
  • NM_007298.4:c.788-406T>G
  • NM_007299.4:c.788-406T>G
  • NM_007300.4:c.4093T>G
  • NP_001394500.1:p.Leu1294Val
  • NP_001394510.1:p.Leu1365Val
  • NP_001394511.1:p.Leu1365Val
  • NP_001394512.1:p.Leu1365Val
  • NP_001394514.1:p.Leu1365Val
  • NP_001394516.1:p.Leu1364Val
  • NP_001394519.1:p.Leu1364Val
  • NP_001394520.1:p.Leu1364Val
  • NP_001394522.1:p.Leu1365Val
  • NP_001394523.1:p.Leu1365Val
  • NP_001394525.1:p.Leu1365Val
  • NP_001394526.1:p.Leu1365Val
  • NP_001394527.1:p.Leu1365Val
  • NP_001394531.1:p.Leu1365Val
  • NP_001394532.1:p.Leu1365Val
  • NP_001394534.1:p.Leu1365Val
  • NP_001394539.1:p.Leu1364Val
  • NP_001394540.1:p.Leu1364Val
  • NP_001394541.1:p.Leu1364Val
  • NP_001394542.1:p.Leu1364Val
  • NP_001394543.1:p.Leu1364Val
  • NP_001394544.1:p.Leu1364Val
  • NP_001394545.1:p.Leu1365Val
  • NP_001394546.1:p.Leu1365Val
  • NP_001394547.1:p.Leu1365Val
  • NP_001394548.1:p.Leu1365Val
  • NP_001394549.1:p.Leu1365Val
  • NP_001394550.1:p.Leu1365Val
  • NP_001394551.1:p.Leu1365Val
  • NP_001394552.1:p.Leu1365Val
  • NP_001394553.1:p.Leu1365Val
  • NP_001394554.1:p.Leu1365Val
  • NP_001394555.1:p.Leu1365Val
  • NP_001394556.1:p.Leu1364Val
  • NP_001394557.1:p.Leu1364Val
  • NP_001394558.1:p.Leu1364Val
  • NP_001394559.1:p.Leu1364Val
  • NP_001394560.1:p.Leu1364Val
  • NP_001394561.1:p.Leu1364Val
  • NP_001394562.1:p.Leu1364Val
  • NP_001394563.1:p.Leu1364Val
  • NP_001394564.1:p.Leu1364Val
  • NP_001394565.1:p.Leu1364Val
  • NP_001394566.1:p.Leu1364Val
  • NP_001394567.1:p.Leu1364Val
  • NP_001394568.1:p.Leu1365Val
  • NP_001394569.1:p.Leu1365Val
  • NP_001394570.1:p.Leu1365Val
  • NP_001394571.1:p.Leu1365Val
  • NP_001394573.1:p.Leu1364Val
  • NP_001394574.1:p.Leu1364Val
  • NP_001394575.1:p.Leu1362Val
  • NP_001394576.1:p.Leu1362Val
  • NP_001394577.1:p.Leu1324Val
  • NP_001394578.1:p.Leu1323Val
  • NP_001394581.1:p.Leu1365Val
  • NP_001394582.1:p.Leu1339Val
  • NP_001394583.1:p.Leu1339Val
  • NP_001394584.1:p.Leu1339Val
  • NP_001394585.1:p.Leu1339Val
  • NP_001394586.1:p.Leu1339Val
  • NP_001394587.1:p.Leu1339Val
  • NP_001394588.1:p.Leu1338Val
  • NP_001394589.1:p.Leu1338Val
  • NP_001394590.1:p.Leu1338Val
  • NP_001394591.1:p.Leu1338Val
  • NP_001394592.1:p.Leu1339Val
  • NP_001394593.1:p.Leu1324Val
  • NP_001394594.1:p.Leu1324Val
  • NP_001394595.1:p.Leu1324Val
  • NP_001394596.1:p.Leu1324Val
  • NP_001394597.1:p.Leu1324Val
  • NP_001394598.1:p.Leu1324Val
  • NP_001394599.1:p.Leu1323Val
  • NP_001394600.1:p.Leu1323Val
  • NP_001394601.1:p.Leu1323Val
  • NP_001394602.1:p.Leu1323Val
  • NP_001394603.1:p.Leu1324Val
  • NP_001394604.1:p.Leu1324Val
  • NP_001394605.1:p.Leu1324Val
  • NP_001394606.1:p.Leu1324Val
  • NP_001394607.1:p.Leu1324Val
  • NP_001394608.1:p.Leu1324Val
  • NP_001394609.1:p.Leu1324Val
  • NP_001394610.1:p.Leu1324Val
  • NP_001394611.1:p.Leu1324Val
  • NP_001394612.1:p.Leu1324Val
  • NP_001394613.1:p.Leu1365Val
  • NP_001394614.1:p.Leu1323Val
  • NP_001394615.1:p.Leu1323Val
  • NP_001394616.1:p.Leu1323Val
  • NP_001394617.1:p.Leu1323Val
  • NP_001394618.1:p.Leu1323Val
  • NP_001394619.1:p.Leu1323Val
  • NP_001394620.1:p.Leu1323Val
  • NP_001394621.1:p.Leu1318Val
  • NP_001394623.1:p.Leu1318Val
  • NP_001394624.1:p.Leu1318Val
  • NP_001394625.1:p.Leu1318Val
  • NP_001394626.1:p.Leu1318Val
  • NP_001394627.1:p.Leu1318Val
  • NP_001394653.1:p.Leu1318Val
  • NP_001394654.1:p.Leu1318Val
  • NP_001394655.1:p.Leu1318Val
  • NP_001394656.1:p.Leu1318Val
  • NP_001394657.1:p.Leu1318Val
  • NP_001394658.1:p.Leu1318Val
  • NP_001394659.1:p.Leu1318Val
  • NP_001394660.1:p.Leu1318Val
  • NP_001394661.1:p.Leu1318Val
  • NP_001394662.1:p.Leu1318Val
  • NP_001394663.1:p.Leu1318Val
  • NP_001394664.1:p.Leu1318Val
  • NP_001394665.1:p.Leu1318Val
  • NP_001394666.1:p.Leu1318Val
  • NP_001394667.1:p.Leu1318Val
  • NP_001394668.1:p.Leu1318Val
  • NP_001394669.1:p.Leu1317Val
  • NP_001394670.1:p.Leu1317Val
  • NP_001394671.1:p.Leu1317Val
  • NP_001394672.1:p.Leu1317Val
  • NP_001394673.1:p.Leu1317Val
  • NP_001394674.1:p.Leu1317Val
  • NP_001394675.1:p.Leu1317Val
  • NP_001394676.1:p.Leu1317Val
  • NP_001394677.1:p.Leu1317Val
  • NP_001394678.1:p.Leu1317Val
  • NP_001394679.1:p.Leu1318Val
  • NP_001394680.1:p.Leu1318Val
  • NP_001394681.1:p.Leu1318Val
  • NP_001394767.1:p.Leu1317Val
  • NP_001394768.1:p.Leu1317Val
  • NP_001394770.1:p.Leu1317Val
  • NP_001394771.1:p.Leu1317Val
  • NP_001394772.1:p.Leu1317Val
  • NP_001394773.1:p.Leu1317Val
  • NP_001394774.1:p.Leu1317Val
  • NP_001394775.1:p.Leu1317Val
  • NP_001394776.1:p.Leu1317Val
  • NP_001394777.1:p.Leu1317Val
  • NP_001394778.1:p.Leu1317Val
  • NP_001394779.1:p.Leu1318Val
  • NP_001394780.1:p.Leu1318Val
  • NP_001394781.1:p.Leu1318Val
  • NP_001394782.1:p.Leu1294Val
  • NP_001394783.1:p.Leu1365Val
  • NP_001394787.1:p.Leu1365Val
  • NP_001394788.1:p.Leu1365Val
  • NP_001394789.1:p.Leu1364Val
  • NP_001394790.1:p.Leu1364Val
  • NP_001394791.1:p.Leu1298Val
  • NP_001394792.1:p.Leu1324Val
  • NP_001394803.1:p.Leu1297Val
  • NP_001394804.1:p.Leu1297Val
  • NP_001394808.1:p.Leu1295Val
  • NP_001394810.1:p.Leu1295Val
  • NP_001394811.1:p.Leu1295Val
  • NP_001394813.1:p.Leu1295Val
  • NP_001394814.1:p.Leu1295Val
  • NP_001394815.1:p.Leu1295Val
  • NP_001394816.1:p.Leu1295Val
  • NP_001394818.1:p.Leu1295Val
  • NP_001394823.1:p.Leu1294Val
  • NP_001394824.1:p.Leu1294Val
  • NP_001394825.1:p.Leu1294Val
  • NP_001394826.1:p.Leu1294Val
  • NP_001394827.1:p.Leu1294Val
  • NP_001394828.1:p.Leu1294Val
  • NP_001394829.1:p.Leu1295Val
  • NP_001394831.1:p.Leu1295Val
  • NP_001394833.1:p.Leu1295Val
  • NP_001394835.1:p.Leu1295Val
  • NP_001394836.1:p.Leu1295Val
  • NP_001394837.1:p.Leu1295Val
  • NP_001394838.1:p.Leu1295Val
  • NP_001394839.1:p.Leu1295Val
  • NP_001394844.1:p.Leu1294Val
  • NP_001394845.1:p.Leu1294Val
  • NP_001394846.1:p.Leu1294Val
  • NP_001394847.1:p.Leu1294Val
  • NP_001394848.1:p.Leu1324Val
  • NP_001394849.1:p.Leu1277Val
  • NP_001394850.1:p.Leu1277Val
  • NP_001394851.1:p.Leu1277Val
  • NP_001394852.1:p.Leu1277Val
  • NP_001394853.1:p.Leu1277Val
  • NP_001394854.1:p.Leu1277Val
  • NP_001394855.1:p.Leu1277Val
  • NP_001394856.1:p.Leu1277Val
  • NP_001394857.1:p.Leu1277Val
  • NP_001394858.1:p.Leu1277Val
  • NP_001394859.1:p.Leu1276Val
  • NP_001394860.1:p.Leu1276Val
  • NP_001394861.1:p.Leu1276Val
  • NP_001394862.1:p.Leu1277Val
  • NP_001394863.1:p.Leu1276Val
  • NP_001394864.1:p.Leu1277Val
  • NP_001394865.1:p.Leu1276Val
  • NP_001394866.1:p.Leu1324Val
  • NP_001394867.1:p.Leu1324Val
  • NP_001394868.1:p.Leu1324Val
  • NP_001394869.1:p.Leu1323Val
  • NP_001394870.1:p.Leu1323Val
  • NP_001394871.1:p.Leu1318Val
  • NP_001394872.1:p.Leu1317Val
  • NP_001394873.1:p.Leu1318Val
  • NP_001394874.1:p.Leu1318Val
  • NP_001394875.1:p.Leu1254Val
  • NP_001394876.1:p.Leu1254Val
  • NP_001394877.1:p.Leu1254Val
  • NP_001394878.1:p.Leu1254Val
  • NP_001394879.1:p.Leu1254Val
  • NP_001394880.1:p.Leu1254Val
  • NP_001394881.1:p.Leu1254Val
  • NP_001394882.1:p.Leu1254Val
  • NP_001394883.1:p.Leu1253Val
  • NP_001394884.1:p.Leu1253Val
  • NP_001394885.1:p.Leu1253Val
  • NP_001394886.1:p.Leu1254Val
  • NP_001394887.1:p.Leu1253Val
  • NP_001394888.1:p.Leu1238Val
  • NP_001394889.1:p.Leu1238Val
  • NP_001394891.1:p.Leu1237Val
  • NP_001394892.1:p.Leu1238Val
  • NP_001394893.1:p.Leu1317Val
  • NP_001394894.1:p.Leu1197Val
  • NP_001394895.1:p.Leu1069Val
  • NP_001394896.1:p.Leu1069Val
  • NP_001394897.1:p.Leu497Val
  • NP_001394898.1:p.Leu497Val
  • NP_009225.1:p.Leu1365Val
  • NP_009225.1:p.Leu1365Val
  • NP_009228.2:p.Leu1318Val
  • NP_009231.2:p.Leu1365Val
  • LRG_292t1:c.4093T>G
  • LRG_292:g.126546T>G
  • LRG_292p1:p.Leu1365Val
  • NC_000017.10:g.41243455A>C
  • NM_007294.3:c.4093T>G
  • NR_027676.1:n.4229T>G
Protein change:
L1069V
Links:
dbSNP: rs1567788936
NCBI 1000 Genomes Browser:
rs1567788936
Molecular consequence:
  • NM_001407970.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-415T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-406T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4084T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4084T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4015T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4015T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4015T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4015T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4015T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4015T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4012T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4012T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4012T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4012T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4015T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4090T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3892T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3889T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3889T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3883T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3880T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3829T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3829T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3829T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3829T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3829T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3829T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3829T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3829T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3829T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3829T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3826T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3826T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3826T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3829T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3826T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3829T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3826T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3970T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3760T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3760T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3760T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3760T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3760T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3760T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3760T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3760T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3757T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3757T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3757T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3760T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3757T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3712T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3712T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3709T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3712T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3949T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3589T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3205T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3205T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1489T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1489T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3952T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4093T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004251704Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Nov 24, 2023) 		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

Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).

Harter P, Hauke J, Heitz F, Reuss A, Kommoss S, Marmé F, Heimbach A, Prieske K, Richters L, Burges A, Neidhardt G, de Gregorio N, El-Balat A, Hilpert F, Meier W, Kimmig R, Kast K, Sehouli J, Baumann K, Jackisch C, Park-Simon TW, Hanker L, et al.

PLoS One. 2017;12(10):e0186043. doi: 10.1371/journal.pone.0186043.

PubMed [citation]
PMID:
29053726
PMCID:
PMC5650145

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, SCV004251704.1

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

Description

This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1365 of the BRCA1 protein (p.Leu1365Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ovarian cancer (PMID: 29053726). ClinVar contains an entry for this variant (Variation ID: 634740). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function with a negative predictive value of 95%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: Sep 29, 2024