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NM_007294.4(BRCA1):c.4009G>C (p.Asp1337His) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Mar 23, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV001021647.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.4009G>C (p.Asp1337His)]

NM_007294.4(BRCA1):c.4009G>C (p.Asp1337His)

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.4009G>C (p.Asp1337His)
HGVS:
  • NC_000017.11:g.43091522C>G
  • NG_005905.2:g.126462G>C
  • NG_087068.1:g.504C>G
  • NM_001407571.1:c.3796G>C
  • NM_001407581.1:c.4009G>C
  • NM_001407582.1:c.4009G>C
  • NM_001407583.1:c.4009G>C
  • NM_001407585.1:c.4009G>C
  • NM_001407587.1:c.4006G>C
  • NM_001407590.1:c.4006G>C
  • NM_001407591.1:c.4006G>C
  • NM_001407593.1:c.4009G>C
  • NM_001407594.1:c.4009G>C
  • NM_001407596.1:c.4009G>C
  • NM_001407597.1:c.4009G>C
  • NM_001407598.1:c.4009G>C
  • NM_001407602.1:c.4009G>C
  • NM_001407603.1:c.4009G>C
  • NM_001407605.1:c.4009G>C
  • NM_001407610.1:c.4006G>C
  • NM_001407611.1:c.4006G>C
  • NM_001407612.1:c.4006G>C
  • NM_001407613.1:c.4006G>C
  • NM_001407614.1:c.4006G>C
  • NM_001407615.1:c.4006G>C
  • NM_001407616.1:c.4009G>C
  • NM_001407617.1:c.4009G>C
  • NM_001407618.1:c.4009G>C
  • NM_001407619.1:c.4009G>C
  • NM_001407620.1:c.4009G>C
  • NM_001407621.1:c.4009G>C
  • NM_001407622.1:c.4009G>C
  • NM_001407623.1:c.4009G>C
  • NM_001407624.1:c.4009G>C
  • NM_001407625.1:c.4009G>C
  • NM_001407626.1:c.4009G>C
  • NM_001407627.1:c.4006G>C
  • NM_001407628.1:c.4006G>C
  • NM_001407629.1:c.4006G>C
  • NM_001407630.1:c.4006G>C
  • NM_001407631.1:c.4006G>C
  • NM_001407632.1:c.4006G>C
  • NM_001407633.1:c.4006G>C
  • NM_001407634.1:c.4006G>C
  • NM_001407635.1:c.4006G>C
  • NM_001407636.1:c.4006G>C
  • NM_001407637.1:c.4006G>C
  • NM_001407638.1:c.4006G>C
  • NM_001407639.1:c.4009G>C
  • NM_001407640.1:c.4009G>C
  • NM_001407641.1:c.4009G>C
  • NM_001407642.1:c.4009G>C
  • NM_001407644.1:c.4006G>C
  • NM_001407645.1:c.4006G>C
  • NM_001407646.1:c.4000G>C
  • NM_001407647.1:c.4000G>C
  • NM_001407648.1:c.3886G>C
  • NM_001407649.1:c.3883G>C
  • NM_001407652.1:c.4009G>C
  • NM_001407653.1:c.3931G>C
  • NM_001407654.1:c.3931G>C
  • NM_001407655.1:c.3931G>C
  • NM_001407656.1:c.3931G>C
  • NM_001407657.1:c.3931G>C
  • NM_001407658.1:c.3931G>C
  • NM_001407659.1:c.3928G>C
  • NM_001407660.1:c.3928G>C
  • NM_001407661.1:c.3928G>C
  • NM_001407662.1:c.3928G>C
  • NM_001407663.1:c.3931G>C
  • NM_001407664.1:c.3886G>C
  • NM_001407665.1:c.3886G>C
  • NM_001407666.1:c.3886G>C
  • NM_001407667.1:c.3886G>C
  • NM_001407668.1:c.3886G>C
  • NM_001407669.1:c.3886G>C
  • NM_001407670.1:c.3883G>C
  • NM_001407671.1:c.3883G>C
  • NM_001407672.1:c.3883G>C
  • NM_001407673.1:c.3883G>C
  • NM_001407674.1:c.3886G>C
  • NM_001407675.1:c.3886G>C
  • NM_001407676.1:c.3886G>C
  • NM_001407677.1:c.3886G>C
  • NM_001407678.1:c.3886G>C
  • NM_001407679.1:c.3886G>C
  • NM_001407680.1:c.3886G>C
  • NM_001407681.1:c.3886G>C
  • NM_001407682.1:c.3886G>C
  • NM_001407683.1:c.3886G>C
  • NM_001407684.1:c.4009G>C
  • NM_001407685.1:c.3883G>C
  • NM_001407686.1:c.3883G>C
  • NM_001407687.1:c.3883G>C
  • NM_001407688.1:c.3883G>C
  • NM_001407689.1:c.3883G>C
  • NM_001407690.1:c.3883G>C
  • NM_001407691.1:c.3883G>C
  • NM_001407692.1:c.3868G>C
  • NM_001407694.1:c.3868G>C
  • NM_001407695.1:c.3868G>C
  • NM_001407696.1:c.3868G>C
  • NM_001407697.1:c.3868G>C
  • NM_001407698.1:c.3868G>C
  • NM_001407724.1:c.3868G>C
  • NM_001407725.1:c.3868G>C
  • NM_001407726.1:c.3868G>C
  • NM_001407727.1:c.3868G>C
  • NM_001407728.1:c.3868G>C
  • NM_001407729.1:c.3868G>C
  • NM_001407730.1:c.3868G>C
  • NM_001407731.1:c.3868G>C
  • NM_001407732.1:c.3868G>C
  • NM_001407733.1:c.3868G>C
  • NM_001407734.1:c.3868G>C
  • NM_001407735.1:c.3868G>C
  • NM_001407736.1:c.3868G>C
  • NM_001407737.1:c.3868G>C
  • NM_001407738.1:c.3868G>C
  • NM_001407739.1:c.3868G>C
  • NM_001407740.1:c.3865G>C
  • NM_001407741.1:c.3865G>C
  • NM_001407742.1:c.3865G>C
  • NM_001407743.1:c.3865G>C
  • NM_001407744.1:c.3865G>C
  • NM_001407745.1:c.3865G>C
  • NM_001407746.1:c.3865G>C
  • NM_001407747.1:c.3865G>C
  • NM_001407748.1:c.3865G>C
  • NM_001407749.1:c.3865G>C
  • NM_001407750.1:c.3868G>C
  • NM_001407751.1:c.3868G>C
  • NM_001407752.1:c.3868G>C
  • NM_001407838.1:c.3865G>C
  • NM_001407839.1:c.3865G>C
  • NM_001407841.1:c.3865G>C
  • NM_001407842.1:c.3865G>C
  • NM_001407843.1:c.3865G>C
  • NM_001407844.1:c.3865G>C
  • NM_001407845.1:c.3865G>C
  • NM_001407846.1:c.3865G>C
  • NM_001407847.1:c.3865G>C
  • NM_001407848.1:c.3865G>C
  • NM_001407849.1:c.3865G>C
  • NM_001407850.1:c.3868G>C
  • NM_001407851.1:c.3868G>C
  • NM_001407852.1:c.3868G>C
  • NM_001407853.1:c.3796G>C
  • NM_001407854.1:c.4009G>C
  • NM_001407858.1:c.4009G>C
  • NM_001407859.1:c.4009G>C
  • NM_001407860.1:c.4006G>C
  • NM_001407861.1:c.4006G>C
  • NM_001407862.1:c.3808G>C
  • NM_001407863.1:c.3886G>C
  • NM_001407874.1:c.3805G>C
  • NM_001407875.1:c.3805G>C
  • NM_001407879.1:c.3799G>C
  • NM_001407881.1:c.3799G>C
  • NM_001407882.1:c.3799G>C
  • NM_001407884.1:c.3799G>C
  • NM_001407885.1:c.3799G>C
  • NM_001407886.1:c.3799G>C
  • NM_001407887.1:c.3799G>C
  • NM_001407889.1:c.3799G>C
  • NM_001407894.1:c.3796G>C
  • NM_001407895.1:c.3796G>C
  • NM_001407896.1:c.3796G>C
  • NM_001407897.1:c.3796G>C
  • NM_001407898.1:c.3796G>C
  • NM_001407899.1:c.3796G>C
  • NM_001407900.1:c.3799G>C
  • NM_001407902.1:c.3799G>C
  • NM_001407904.1:c.3799G>C
  • NM_001407906.1:c.3799G>C
  • NM_001407907.1:c.3799G>C
  • NM_001407908.1:c.3799G>C
  • NM_001407909.1:c.3799G>C
  • NM_001407910.1:c.3799G>C
  • NM_001407915.1:c.3796G>C
  • NM_001407916.1:c.3796G>C
  • NM_001407917.1:c.3796G>C
  • NM_001407918.1:c.3796G>C
  • NM_001407919.1:c.3886G>C
  • NM_001407920.1:c.3745G>C
  • NM_001407921.1:c.3745G>C
  • NM_001407922.1:c.3745G>C
  • NM_001407923.1:c.3745G>C
  • NM_001407924.1:c.3745G>C
  • NM_001407925.1:c.3745G>C
  • NM_001407926.1:c.3745G>C
  • NM_001407927.1:c.3745G>C
  • NM_001407928.1:c.3745G>C
  • NM_001407929.1:c.3745G>C
  • NM_001407930.1:c.3742G>C
  • NM_001407931.1:c.3742G>C
  • NM_001407932.1:c.3742G>C
  • NM_001407933.1:c.3745G>C
  • NM_001407934.1:c.3742G>C
  • NM_001407935.1:c.3745G>C
  • NM_001407936.1:c.3742G>C
  • NM_001407937.1:c.3886G>C
  • NM_001407938.1:c.3886G>C
  • NM_001407939.1:c.3886G>C
  • NM_001407940.1:c.3883G>C
  • NM_001407941.1:c.3883G>C
  • NM_001407942.1:c.3868G>C
  • NM_001407943.1:c.3865G>C
  • NM_001407944.1:c.3868G>C
  • NM_001407945.1:c.3868G>C
  • NM_001407946.1:c.3676G>C
  • NM_001407947.1:c.3676G>C
  • NM_001407948.1:c.3676G>C
  • NM_001407949.1:c.3676G>C
  • NM_001407950.1:c.3676G>C
  • NM_001407951.1:c.3676G>C
  • NM_001407952.1:c.3676G>C
  • NM_001407953.1:c.3676G>C
  • NM_001407954.1:c.3673G>C
  • NM_001407955.1:c.3673G>C
  • NM_001407956.1:c.3673G>C
  • NM_001407957.1:c.3676G>C
  • NM_001407958.1:c.3673G>C
  • NM_001407959.1:c.3628G>C
  • NM_001407960.1:c.3628G>C
  • NM_001407962.1:c.3625G>C
  • NM_001407963.1:c.3628G>C
  • NM_001407964.1:c.3865G>C
  • NM_001407965.1:c.3505G>C
  • NM_001407966.1:c.3121G>C
  • NM_001407967.1:c.3121G>C
  • NM_001407968.1:c.1405G>C
  • NM_001407969.1:c.1405G>C
  • NM_001407970.1:c.788-490G>C
  • NM_001407971.1:c.788-490G>C
  • NM_001407972.1:c.785-490G>C
  • NM_001407973.1:c.788-490G>C
  • NM_001407974.1:c.788-490G>C
  • NM_001407975.1:c.788-490G>C
  • NM_001407976.1:c.788-490G>C
  • NM_001407977.1:c.788-490G>C
  • NM_001407978.1:c.788-490G>C
  • NM_001407979.1:c.788-490G>C
  • NM_001407980.1:c.788-490G>C
  • NM_001407981.1:c.788-490G>C
  • NM_001407982.1:c.788-490G>C
  • NM_001407983.1:c.788-490G>C
  • NM_001407984.1:c.785-490G>C
  • NM_001407985.1:c.785-490G>C
  • NM_001407986.1:c.785-490G>C
  • NM_001407990.1:c.788-490G>C
  • NM_001407991.1:c.785-490G>C
  • NM_001407992.1:c.785-490G>C
  • NM_001407993.1:c.788-490G>C
  • NM_001408392.1:c.785-490G>C
  • NM_001408396.1:c.785-490G>C
  • NM_001408397.1:c.785-490G>C
  • NM_001408398.1:c.785-490G>C
  • NM_001408399.1:c.785-490G>C
  • NM_001408400.1:c.785-490G>C
  • NM_001408401.1:c.785-490G>C
  • NM_001408402.1:c.785-490G>C
  • NM_001408403.1:c.788-490G>C
  • NM_001408404.1:c.788-490G>C
  • NM_001408406.1:c.791-499G>C
  • NM_001408407.1:c.785-490G>C
  • NM_001408408.1:c.779-490G>C
  • NM_001408409.1:c.710-490G>C
  • NM_001408410.1:c.647-490G>C
  • NM_001408411.1:c.710-490G>C
  • NM_001408412.1:c.710-490G>C
  • NM_001408413.1:c.707-490G>C
  • NM_001408414.1:c.710-490G>C
  • NM_001408415.1:c.710-490G>C
  • NM_001408416.1:c.707-490G>C
  • NM_001408418.1:c.671-490G>C
  • NM_001408419.1:c.671-490G>C
  • NM_001408420.1:c.671-490G>C
  • NM_001408421.1:c.668-490G>C
  • NM_001408422.1:c.671-490G>C
  • NM_001408423.1:c.671-490G>C
  • NM_001408424.1:c.668-490G>C
  • NM_001408425.1:c.665-490G>C
  • NM_001408426.1:c.665-490G>C
  • NM_001408427.1:c.665-490G>C
  • NM_001408428.1:c.665-490G>C
  • NM_001408429.1:c.665-490G>C
  • NM_001408430.1:c.665-490G>C
  • NM_001408431.1:c.668-490G>C
  • NM_001408432.1:c.662-490G>C
  • NM_001408433.1:c.662-490G>C
  • NM_001408434.1:c.662-490G>C
  • NM_001408435.1:c.662-490G>C
  • NM_001408436.1:c.665-490G>C
  • NM_001408437.1:c.665-490G>C
  • NM_001408438.1:c.665-490G>C
  • NM_001408439.1:c.665-490G>C
  • NM_001408440.1:c.665-490G>C
  • NM_001408441.1:c.665-490G>C
  • NM_001408442.1:c.665-490G>C
  • NM_001408443.1:c.665-490G>C
  • NM_001408444.1:c.665-490G>C
  • NM_001408445.1:c.662-490G>C
  • NM_001408446.1:c.662-490G>C
  • NM_001408447.1:c.662-490G>C
  • NM_001408448.1:c.662-490G>C
  • NM_001408450.1:c.662-490G>C
  • NM_001408451.1:c.653-490G>C
  • NM_001408452.1:c.647-490G>C
  • NM_001408453.1:c.647-490G>C
  • NM_001408454.1:c.647-490G>C
  • NM_001408455.1:c.647-490G>C
  • NM_001408456.1:c.647-490G>C
  • NM_001408457.1:c.647-490G>C
  • NM_001408458.1:c.647-490G>C
  • NM_001408459.1:c.647-490G>C
  • NM_001408460.1:c.647-490G>C
  • NM_001408461.1:c.647-490G>C
  • NM_001408462.1:c.644-490G>C
  • NM_001408463.1:c.644-490G>C
  • NM_001408464.1:c.644-490G>C
  • NM_001408465.1:c.644-490G>C
  • NM_001408466.1:c.647-490G>C
  • NM_001408467.1:c.647-490G>C
  • NM_001408468.1:c.644-490G>C
  • NM_001408469.1:c.647-490G>C
  • NM_001408470.1:c.644-490G>C
  • NM_001408472.1:c.788-490G>C
  • NM_001408473.1:c.785-490G>C
  • NM_001408474.1:c.587-490G>C
  • NM_001408475.1:c.584-490G>C
  • NM_001408476.1:c.587-490G>C
  • NM_001408478.1:c.578-490G>C
  • NM_001408479.1:c.578-490G>C
  • NM_001408480.1:c.578-490G>C
  • NM_001408481.1:c.578-490G>C
  • NM_001408482.1:c.578-490G>C
  • NM_001408483.1:c.578-490G>C
  • NM_001408484.1:c.578-490G>C
  • NM_001408485.1:c.578-490G>C
  • NM_001408489.1:c.578-490G>C
  • NM_001408490.1:c.575-490G>C
  • NM_001408491.1:c.575-490G>C
  • NM_001408492.1:c.578-490G>C
  • NM_001408493.1:c.575-490G>C
  • NM_001408494.1:c.548-490G>C
  • NM_001408495.1:c.545-490G>C
  • NM_001408496.1:c.524-490G>C
  • NM_001408497.1:c.524-490G>C
  • NM_001408498.1:c.524-490G>C
  • NM_001408499.1:c.524-490G>C
  • NM_001408500.1:c.524-490G>C
  • NM_001408501.1:c.524-490G>C
  • NM_001408502.1:c.455-490G>C
  • NM_001408503.1:c.521-490G>C
  • NM_001408504.1:c.521-490G>C
  • NM_001408505.1:c.521-490G>C
  • NM_001408506.1:c.461-490G>C
  • NM_001408507.1:c.461-490G>C
  • NM_001408508.1:c.452-490G>C
  • NM_001408509.1:c.452-490G>C
  • NM_001408510.1:c.407-490G>C
  • NM_001408511.1:c.404-490G>C
  • NM_001408512.1:c.284-490G>C
  • NM_001408513.1:c.578-490G>C
  • NM_001408514.1:c.578-490G>C
  • NM_007294.4:c.4009G>CMANE SELECT
  • NM_007297.4:c.3868G>C
  • NM_007298.4:c.788-490G>C
  • NM_007299.4:c.788-490G>C
  • NM_007300.4:c.4009G>C
  • NP_001394500.1:p.Asp1266His
  • NP_001394510.1:p.Asp1337His
  • NP_001394511.1:p.Asp1337His
  • NP_001394512.1:p.Asp1337His
  • NP_001394514.1:p.Asp1337His
  • NP_001394516.1:p.Asp1336His
  • NP_001394519.1:p.Asp1336His
  • NP_001394520.1:p.Asp1336His
  • NP_001394522.1:p.Asp1337His
  • NP_001394523.1:p.Asp1337His
  • NP_001394525.1:p.Asp1337His
  • NP_001394526.1:p.Asp1337His
  • NP_001394527.1:p.Asp1337His
  • NP_001394531.1:p.Asp1337His
  • NP_001394532.1:p.Asp1337His
  • NP_001394534.1:p.Asp1337His
  • NP_001394539.1:p.Asp1336His
  • NP_001394540.1:p.Asp1336His
  • NP_001394541.1:p.Asp1336His
  • NP_001394542.1:p.Asp1336His
  • NP_001394543.1:p.Asp1336His
  • NP_001394544.1:p.Asp1336His
  • NP_001394545.1:p.Asp1337His
  • NP_001394546.1:p.Asp1337His
  • NP_001394547.1:p.Asp1337His
  • NP_001394548.1:p.Asp1337His
  • NP_001394549.1:p.Asp1337His
  • NP_001394550.1:p.Asp1337His
  • NP_001394551.1:p.Asp1337His
  • NP_001394552.1:p.Asp1337His
  • NP_001394553.1:p.Asp1337His
  • NP_001394554.1:p.Asp1337His
  • NP_001394555.1:p.Asp1337His
  • NP_001394556.1:p.Asp1336His
  • NP_001394557.1:p.Asp1336His
  • NP_001394558.1:p.Asp1336His
  • NP_001394559.1:p.Asp1336His
  • NP_001394560.1:p.Asp1336His
  • NP_001394561.1:p.Asp1336His
  • NP_001394562.1:p.Asp1336His
  • NP_001394563.1:p.Asp1336His
  • NP_001394564.1:p.Asp1336His
  • NP_001394565.1:p.Asp1336His
  • NP_001394566.1:p.Asp1336His
  • NP_001394567.1:p.Asp1336His
  • NP_001394568.1:p.Asp1337His
  • NP_001394569.1:p.Asp1337His
  • NP_001394570.1:p.Asp1337His
  • NP_001394571.1:p.Asp1337His
  • NP_001394573.1:p.Asp1336His
  • NP_001394574.1:p.Asp1336His
  • NP_001394575.1:p.Asp1334His
  • NP_001394576.1:p.Asp1334His
  • NP_001394577.1:p.Asp1296His
  • NP_001394578.1:p.Asp1295His
  • NP_001394581.1:p.Asp1337His
  • NP_001394582.1:p.Asp1311His
  • NP_001394583.1:p.Asp1311His
  • NP_001394584.1:p.Asp1311His
  • NP_001394585.1:p.Asp1311His
  • NP_001394586.1:p.Asp1311His
  • NP_001394587.1:p.Asp1311His
  • NP_001394588.1:p.Asp1310His
  • NP_001394589.1:p.Asp1310His
  • NP_001394590.1:p.Asp1310His
  • NP_001394591.1:p.Asp1310His
  • NP_001394592.1:p.Asp1311His
  • NP_001394593.1:p.Asp1296His
  • NP_001394594.1:p.Asp1296His
  • NP_001394595.1:p.Asp1296His
  • NP_001394596.1:p.Asp1296His
  • NP_001394597.1:p.Asp1296His
  • NP_001394598.1:p.Asp1296His
  • NP_001394599.1:p.Asp1295His
  • NP_001394600.1:p.Asp1295His
  • NP_001394601.1:p.Asp1295His
  • NP_001394602.1:p.Asp1295His
  • NP_001394603.1:p.Asp1296His
  • NP_001394604.1:p.Asp1296His
  • NP_001394605.1:p.Asp1296His
  • NP_001394606.1:p.Asp1296His
  • NP_001394607.1:p.Asp1296His
  • NP_001394608.1:p.Asp1296His
  • NP_001394609.1:p.Asp1296His
  • NP_001394610.1:p.Asp1296His
  • NP_001394611.1:p.Asp1296His
  • NP_001394612.1:p.Asp1296His
  • NP_001394613.1:p.Asp1337His
  • NP_001394614.1:p.Asp1295His
  • NP_001394615.1:p.Asp1295His
  • NP_001394616.1:p.Asp1295His
  • NP_001394617.1:p.Asp1295His
  • NP_001394618.1:p.Asp1295His
  • NP_001394619.1:p.Asp1295His
  • NP_001394620.1:p.Asp1295His
  • NP_001394621.1:p.Asp1290His
  • NP_001394623.1:p.Asp1290His
  • NP_001394624.1:p.Asp1290His
  • NP_001394625.1:p.Asp1290His
  • NP_001394626.1:p.Asp1290His
  • NP_001394627.1:p.Asp1290His
  • NP_001394653.1:p.Asp1290His
  • NP_001394654.1:p.Asp1290His
  • NP_001394655.1:p.Asp1290His
  • NP_001394656.1:p.Asp1290His
  • NP_001394657.1:p.Asp1290His
  • NP_001394658.1:p.Asp1290His
  • NP_001394659.1:p.Asp1290His
  • NP_001394660.1:p.Asp1290His
  • NP_001394661.1:p.Asp1290His
  • NP_001394662.1:p.Asp1290His
  • NP_001394663.1:p.Asp1290His
  • NP_001394664.1:p.Asp1290His
  • NP_001394665.1:p.Asp1290His
  • NP_001394666.1:p.Asp1290His
  • NP_001394667.1:p.Asp1290His
  • NP_001394668.1:p.Asp1290His
  • NP_001394669.1:p.Asp1289His
  • NP_001394670.1:p.Asp1289His
  • NP_001394671.1:p.Asp1289His
  • NP_001394672.1:p.Asp1289His
  • NP_001394673.1:p.Asp1289His
  • NP_001394674.1:p.Asp1289His
  • NP_001394675.1:p.Asp1289His
  • NP_001394676.1:p.Asp1289His
  • NP_001394677.1:p.Asp1289His
  • NP_001394678.1:p.Asp1289His
  • NP_001394679.1:p.Asp1290His
  • NP_001394680.1:p.Asp1290His
  • NP_001394681.1:p.Asp1290His
  • NP_001394767.1:p.Asp1289His
  • NP_001394768.1:p.Asp1289His
  • NP_001394770.1:p.Asp1289His
  • NP_001394771.1:p.Asp1289His
  • NP_001394772.1:p.Asp1289His
  • NP_001394773.1:p.Asp1289His
  • NP_001394774.1:p.Asp1289His
  • NP_001394775.1:p.Asp1289His
  • NP_001394776.1:p.Asp1289His
  • NP_001394777.1:p.Asp1289His
  • NP_001394778.1:p.Asp1289His
  • NP_001394779.1:p.Asp1290His
  • NP_001394780.1:p.Asp1290His
  • NP_001394781.1:p.Asp1290His
  • NP_001394782.1:p.Asp1266His
  • NP_001394783.1:p.Asp1337His
  • NP_001394787.1:p.Asp1337His
  • NP_001394788.1:p.Asp1337His
  • NP_001394789.1:p.Asp1336His
  • NP_001394790.1:p.Asp1336His
  • NP_001394791.1:p.Asp1270His
  • NP_001394792.1:p.Asp1296His
  • NP_001394803.1:p.Asp1269His
  • NP_001394804.1:p.Asp1269His
  • NP_001394808.1:p.Asp1267His
  • NP_001394810.1:p.Asp1267His
  • NP_001394811.1:p.Asp1267His
  • NP_001394813.1:p.Asp1267His
  • NP_001394814.1:p.Asp1267His
  • NP_001394815.1:p.Asp1267His
  • NP_001394816.1:p.Asp1267His
  • NP_001394818.1:p.Asp1267His
  • NP_001394823.1:p.Asp1266His
  • NP_001394824.1:p.Asp1266His
  • NP_001394825.1:p.Asp1266His
  • NP_001394826.1:p.Asp1266His
  • NP_001394827.1:p.Asp1266His
  • NP_001394828.1:p.Asp1266His
  • NP_001394829.1:p.Asp1267His
  • NP_001394831.1:p.Asp1267His
  • NP_001394833.1:p.Asp1267His
  • NP_001394835.1:p.Asp1267His
  • NP_001394836.1:p.Asp1267His
  • NP_001394837.1:p.Asp1267His
  • NP_001394838.1:p.Asp1267His
  • NP_001394839.1:p.Asp1267His
  • NP_001394844.1:p.Asp1266His
  • NP_001394845.1:p.Asp1266His
  • NP_001394846.1:p.Asp1266His
  • NP_001394847.1:p.Asp1266His
  • NP_001394848.1:p.Asp1296His
  • NP_001394849.1:p.Asp1249His
  • NP_001394850.1:p.Asp1249His
  • NP_001394851.1:p.Asp1249His
  • NP_001394852.1:p.Asp1249His
  • NP_001394853.1:p.Asp1249His
  • NP_001394854.1:p.Asp1249His
  • NP_001394855.1:p.Asp1249His
  • NP_001394856.1:p.Asp1249His
  • NP_001394857.1:p.Asp1249His
  • NP_001394858.1:p.Asp1249His
  • NP_001394859.1:p.Asp1248His
  • NP_001394860.1:p.Asp1248His
  • NP_001394861.1:p.Asp1248His
  • NP_001394862.1:p.Asp1249His
  • NP_001394863.1:p.Asp1248His
  • NP_001394864.1:p.Asp1249His
  • NP_001394865.1:p.Asp1248His
  • NP_001394866.1:p.Asp1296His
  • NP_001394867.1:p.Asp1296His
  • NP_001394868.1:p.Asp1296His
  • NP_001394869.1:p.Asp1295His
  • NP_001394870.1:p.Asp1295His
  • NP_001394871.1:p.Asp1290His
  • NP_001394872.1:p.Asp1289His
  • NP_001394873.1:p.Asp1290His
  • NP_001394874.1:p.Asp1290His
  • NP_001394875.1:p.Asp1226His
  • NP_001394876.1:p.Asp1226His
  • NP_001394877.1:p.Asp1226His
  • NP_001394878.1:p.Asp1226His
  • NP_001394879.1:p.Asp1226His
  • NP_001394880.1:p.Asp1226His
  • NP_001394881.1:p.Asp1226His
  • NP_001394882.1:p.Asp1226His
  • NP_001394883.1:p.Asp1225His
  • NP_001394884.1:p.Asp1225His
  • NP_001394885.1:p.Asp1225His
  • NP_001394886.1:p.Asp1226His
  • NP_001394887.1:p.Asp1225His
  • NP_001394888.1:p.Asp1210His
  • NP_001394889.1:p.Asp1210His
  • NP_001394891.1:p.Asp1209His
  • NP_001394892.1:p.Asp1210His
  • NP_001394893.1:p.Asp1289His
  • NP_001394894.1:p.Asp1169His
  • NP_001394895.1:p.Asp1041His
  • NP_001394896.1:p.Asp1041His
  • NP_001394897.1:p.Asp469His
  • NP_001394898.1:p.Asp469His
  • NP_009225.1:p.Asp1337His
  • NP_009225.1:p.Asp1337His
  • NP_009228.2:p.Asp1290His
  • NP_009231.2:p.Asp1337His
  • LRG_292t1:c.4009G>C
  • LRG_292:g.126462G>C
  • LRG_292p1:p.Asp1337His
  • NC_000017.10:g.41243539C>G
  • NM_007294.3:c.4009G>C
  • NR_027676.1:n.4145G>C
Protein change:
D1041H
Links:
dbSNP: rs886041144
NCBI 1000 Genomes Browser:
rs886041144
Molecular consequence:
  • NM_001407970.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-499G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-490G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4000G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4000G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3928G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3928G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3928G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3928G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3931G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4006G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3808G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3805G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3805G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3796G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3742G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3742G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3742G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3742G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3745G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3742G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3886G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3883G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3673G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3673G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3673G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3676G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3673G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3628G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3628G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3625G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3628G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3865G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3505G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3121G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3121G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1405G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1405G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4009G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001183292Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 22, 2022) 		germlineclinical testing

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

Citation Link,

SCV003850932University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Dines et al. (Genet Med. 2020))		Likely benign
(Mar 23, 2023) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Clinical application of micronucleus test: a case-control study on the prediction of breast cancer risk/susceptibility.

Bolognesi C, Bruzzi P, Gismondi V, Volpi S, Viassolo V, Pedemonte S, Varesco L.

PLoS One. 2014;9(11):e112354. doi: 10.1371/journal.pone.0112354.

PubMed [citation]
PMID:
25415331
PMCID:
PMC4240584

Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome.

Fanale D, Fiorino A, Incorvaia L, Dimino A, Filorizzo C, Bono M, Cancelliere D, Calò V, Brando C, Corsini LR, Sciacchitano R, Magrin L, Pivetti A, Pedone E, Madonia G, Cucinella A, Badalamenti G, Russo A, Bazan V.

Front Oncol. 2021;11:682445. doi: 10.3389/fonc.2021.682445. Erratum in: Front Oncol. 2022 May 04;12:920342. doi: 10.3389/fonc.2022.920342.

PubMed [citation]
PMID:
34178674
PMCID:
PMC8226162
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001183292.4

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

Description

The p.D1337H variant (also known as c.4009G>C), located in coding exon 9 of the BRCA1 gene, results from a G to C substitution at nucleotide position 4009. The aspartic acid at codon 1337 is replaced by histidine, an amino acid with similar properties. This variant has been previously reported in an individual with a personal history of breast cancer (Bolognesi C et al. PLoS ONE, 2014 Nov;9:e112354) and was reported in an individual within a cohort of 874 unrelated Italian breast or ovarian cancer patients undergoing genetic testing based on suspicion for HBOC (Fanale D. et al. Front Oncol . 2021 Jun;11:682445). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003850932.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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

Last Updated: Sep 29, 2024