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NM_007294.4(BRCA1):c.4081A>T (p.Met1361Leu) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 18, 2019
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV001003383.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.4081A>T (p.Met1361Leu)]

NM_007294.4(BRCA1):c.4081A>T (p.Met1361Leu)

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.4081A>T (p.Met1361Leu)
HGVS:
  • NC_000017.11:g.43091450T>A
  • NG_005905.2:g.126534A>T
  • NG_087068.1:g.432T>A
  • NM_001407571.1:c.3868A>T
  • NM_001407581.1:c.4081A>T
  • NM_001407582.1:c.4081A>T
  • NM_001407583.1:c.4081A>T
  • NM_001407585.1:c.4081A>T
  • NM_001407587.1:c.4078A>T
  • NM_001407590.1:c.4078A>T
  • NM_001407591.1:c.4078A>T
  • NM_001407593.1:c.4081A>T
  • NM_001407594.1:c.4081A>T
  • NM_001407596.1:c.4081A>T
  • NM_001407597.1:c.4081A>T
  • NM_001407598.1:c.4081A>T
  • NM_001407602.1:c.4081A>T
  • NM_001407603.1:c.4081A>T
  • NM_001407605.1:c.4081A>T
  • NM_001407610.1:c.4078A>T
  • NM_001407611.1:c.4078A>T
  • NM_001407612.1:c.4078A>T
  • NM_001407613.1:c.4078A>T
  • NM_001407614.1:c.4078A>T
  • NM_001407615.1:c.4078A>T
  • NM_001407616.1:c.4081A>T
  • NM_001407617.1:c.4081A>T
  • NM_001407618.1:c.4081A>T
  • NM_001407619.1:c.4081A>T
  • NM_001407620.1:c.4081A>T
  • NM_001407621.1:c.4081A>T
  • NM_001407622.1:c.4081A>T
  • NM_001407623.1:c.4081A>T
  • NM_001407624.1:c.4081A>T
  • NM_001407625.1:c.4081A>T
  • NM_001407626.1:c.4081A>T
  • NM_001407627.1:c.4078A>T
  • NM_001407628.1:c.4078A>T
  • NM_001407629.1:c.4078A>T
  • NM_001407630.1:c.4078A>T
  • NM_001407631.1:c.4078A>T
  • NM_001407632.1:c.4078A>T
  • NM_001407633.1:c.4078A>T
  • NM_001407634.1:c.4078A>T
  • NM_001407635.1:c.4078A>T
  • NM_001407636.1:c.4078A>T
  • NM_001407637.1:c.4078A>T
  • NM_001407638.1:c.4078A>T
  • NM_001407639.1:c.4081A>T
  • NM_001407640.1:c.4081A>T
  • NM_001407641.1:c.4081A>T
  • NM_001407642.1:c.4081A>T
  • NM_001407644.1:c.4078A>T
  • NM_001407645.1:c.4078A>T
  • NM_001407646.1:c.4072A>T
  • NM_001407647.1:c.4072A>T
  • NM_001407648.1:c.3958A>T
  • NM_001407649.1:c.3955A>T
  • NM_001407652.1:c.4081A>T
  • NM_001407653.1:c.4003A>T
  • NM_001407654.1:c.4003A>T
  • NM_001407655.1:c.4003A>T
  • NM_001407656.1:c.4003A>T
  • NM_001407657.1:c.4003A>T
  • NM_001407658.1:c.4003A>T
  • NM_001407659.1:c.4000A>T
  • NM_001407660.1:c.4000A>T
  • NM_001407661.1:c.4000A>T
  • NM_001407662.1:c.4000A>T
  • NM_001407663.1:c.4003A>T
  • NM_001407664.1:c.3958A>T
  • NM_001407665.1:c.3958A>T
  • NM_001407666.1:c.3958A>T
  • NM_001407667.1:c.3958A>T
  • NM_001407668.1:c.3958A>T
  • NM_001407669.1:c.3958A>T
  • NM_001407670.1:c.3955A>T
  • NM_001407671.1:c.3955A>T
  • NM_001407672.1:c.3955A>T
  • NM_001407673.1:c.3955A>T
  • NM_001407674.1:c.3958A>T
  • NM_001407675.1:c.3958A>T
  • NM_001407676.1:c.3958A>T
  • NM_001407677.1:c.3958A>T
  • NM_001407678.1:c.3958A>T
  • NM_001407679.1:c.3958A>T
  • NM_001407680.1:c.3958A>T
  • NM_001407681.1:c.3958A>T
  • NM_001407682.1:c.3958A>T
  • NM_001407683.1:c.3958A>T
  • NM_001407684.1:c.4081A>T
  • NM_001407685.1:c.3955A>T
  • NM_001407686.1:c.3955A>T
  • NM_001407687.1:c.3955A>T
  • NM_001407688.1:c.3955A>T
  • NM_001407689.1:c.3955A>T
  • NM_001407690.1:c.3955A>T
  • NM_001407691.1:c.3955A>T
  • NM_001407692.1:c.3940A>T
  • NM_001407694.1:c.3940A>T
  • NM_001407695.1:c.3940A>T
  • NM_001407696.1:c.3940A>T
  • NM_001407697.1:c.3940A>T
  • NM_001407698.1:c.3940A>T
  • NM_001407724.1:c.3940A>T
  • NM_001407725.1:c.3940A>T
  • NM_001407726.1:c.3940A>T
  • NM_001407727.1:c.3940A>T
  • NM_001407728.1:c.3940A>T
  • NM_001407729.1:c.3940A>T
  • NM_001407730.1:c.3940A>T
  • NM_001407731.1:c.3940A>T
  • NM_001407732.1:c.3940A>T
  • NM_001407733.1:c.3940A>T
  • NM_001407734.1:c.3940A>T
  • NM_001407735.1:c.3940A>T
  • NM_001407736.1:c.3940A>T
  • NM_001407737.1:c.3940A>T
  • NM_001407738.1:c.3940A>T
  • NM_001407739.1:c.3940A>T
  • NM_001407740.1:c.3937A>T
  • NM_001407741.1:c.3937A>T
  • NM_001407742.1:c.3937A>T
  • NM_001407743.1:c.3937A>T
  • NM_001407744.1:c.3937A>T
  • NM_001407745.1:c.3937A>T
  • NM_001407746.1:c.3937A>T
  • NM_001407747.1:c.3937A>T
  • NM_001407748.1:c.3937A>T
  • NM_001407749.1:c.3937A>T
  • NM_001407750.1:c.3940A>T
  • NM_001407751.1:c.3940A>T
  • NM_001407752.1:c.3940A>T
  • NM_001407838.1:c.3937A>T
  • NM_001407839.1:c.3937A>T
  • NM_001407841.1:c.3937A>T
  • NM_001407842.1:c.3937A>T
  • NM_001407843.1:c.3937A>T
  • NM_001407844.1:c.3937A>T
  • NM_001407845.1:c.3937A>T
  • NM_001407846.1:c.3937A>T
  • NM_001407847.1:c.3937A>T
  • NM_001407848.1:c.3937A>T
  • NM_001407849.1:c.3937A>T
  • NM_001407850.1:c.3940A>T
  • NM_001407851.1:c.3940A>T
  • NM_001407852.1:c.3940A>T
  • NM_001407853.1:c.3868A>T
  • NM_001407854.1:c.4081A>T
  • NM_001407858.1:c.4081A>T
  • NM_001407859.1:c.4081A>T
  • NM_001407860.1:c.4078A>T
  • NM_001407861.1:c.4078A>T
  • NM_001407862.1:c.3880A>T
  • NM_001407863.1:c.3958A>T
  • NM_001407874.1:c.3877A>T
  • NM_001407875.1:c.3877A>T
  • NM_001407879.1:c.3871A>T
  • NM_001407881.1:c.3871A>T
  • NM_001407882.1:c.3871A>T
  • NM_001407884.1:c.3871A>T
  • NM_001407885.1:c.3871A>T
  • NM_001407886.1:c.3871A>T
  • NM_001407887.1:c.3871A>T
  • NM_001407889.1:c.3871A>T
  • NM_001407894.1:c.3868A>T
  • NM_001407895.1:c.3868A>T
  • NM_001407896.1:c.3868A>T
  • NM_001407897.1:c.3868A>T
  • NM_001407898.1:c.3868A>T
  • NM_001407899.1:c.3868A>T
  • NM_001407900.1:c.3871A>T
  • NM_001407902.1:c.3871A>T
  • NM_001407904.1:c.3871A>T
  • NM_001407906.1:c.3871A>T
  • NM_001407907.1:c.3871A>T
  • NM_001407908.1:c.3871A>T
  • NM_001407909.1:c.3871A>T
  • NM_001407910.1:c.3871A>T
  • NM_001407915.1:c.3868A>T
  • NM_001407916.1:c.3868A>T
  • NM_001407917.1:c.3868A>T
  • NM_001407918.1:c.3868A>T
  • NM_001407919.1:c.3958A>T
  • NM_001407920.1:c.3817A>T
  • NM_001407921.1:c.3817A>T
  • NM_001407922.1:c.3817A>T
  • NM_001407923.1:c.3817A>T
  • NM_001407924.1:c.3817A>T
  • NM_001407925.1:c.3817A>T
  • NM_001407926.1:c.3817A>T
  • NM_001407927.1:c.3817A>T
  • NM_001407928.1:c.3817A>T
  • NM_001407929.1:c.3817A>T
  • NM_001407930.1:c.3814A>T
  • NM_001407931.1:c.3814A>T
  • NM_001407932.1:c.3814A>T
  • NM_001407933.1:c.3817A>T
  • NM_001407934.1:c.3814A>T
  • NM_001407935.1:c.3817A>T
  • NM_001407936.1:c.3814A>T
  • NM_001407937.1:c.3958A>T
  • NM_001407938.1:c.3958A>T
  • NM_001407939.1:c.3958A>T
  • NM_001407940.1:c.3955A>T
  • NM_001407941.1:c.3955A>T
  • NM_001407942.1:c.3940A>T
  • NM_001407943.1:c.3937A>T
  • NM_001407944.1:c.3940A>T
  • NM_001407945.1:c.3940A>T
  • NM_001407946.1:c.3748A>T
  • NM_001407947.1:c.3748A>T
  • NM_001407948.1:c.3748A>T
  • NM_001407949.1:c.3748A>T
  • NM_001407950.1:c.3748A>T
  • NM_001407951.1:c.3748A>T
  • NM_001407952.1:c.3748A>T
  • NM_001407953.1:c.3748A>T
  • NM_001407954.1:c.3745A>T
  • NM_001407955.1:c.3745A>T
  • NM_001407956.1:c.3745A>T
  • NM_001407957.1:c.3748A>T
  • NM_001407958.1:c.3745A>T
  • NM_001407959.1:c.3700A>T
  • NM_001407960.1:c.3700A>T
  • NM_001407962.1:c.3697A>T
  • NM_001407963.1:c.3700A>T
  • NM_001407964.1:c.3937A>T
  • NM_001407965.1:c.3577A>T
  • NM_001407966.1:c.3193A>T
  • NM_001407967.1:c.3193A>T
  • NM_001407968.1:c.1477A>T
  • NM_001407969.1:c.1477A>T
  • NM_001407970.1:c.788-418A>T
  • NM_001407971.1:c.788-418A>T
  • NM_001407972.1:c.785-418A>T
  • NM_001407973.1:c.788-418A>T
  • NM_001407974.1:c.788-418A>T
  • NM_001407975.1:c.788-418A>T
  • NM_001407976.1:c.788-418A>T
  • NM_001407977.1:c.788-418A>T
  • NM_001407978.1:c.788-418A>T
  • NM_001407979.1:c.788-418A>T
  • NM_001407980.1:c.788-418A>T
  • NM_001407981.1:c.788-418A>T
  • NM_001407982.1:c.788-418A>T
  • NM_001407983.1:c.788-418A>T
  • NM_001407984.1:c.785-418A>T
  • NM_001407985.1:c.785-418A>T
  • NM_001407986.1:c.785-418A>T
  • NM_001407990.1:c.788-418A>T
  • NM_001407991.1:c.785-418A>T
  • NM_001407992.1:c.785-418A>T
  • NM_001407993.1:c.788-418A>T
  • NM_001408392.1:c.785-418A>T
  • NM_001408396.1:c.785-418A>T
  • NM_001408397.1:c.785-418A>T
  • NM_001408398.1:c.785-418A>T
  • NM_001408399.1:c.785-418A>T
  • NM_001408400.1:c.785-418A>T
  • NM_001408401.1:c.785-418A>T
  • NM_001408402.1:c.785-418A>T
  • NM_001408403.1:c.788-418A>T
  • NM_001408404.1:c.788-418A>T
  • NM_001408406.1:c.791-427A>T
  • NM_001408407.1:c.785-418A>T
  • NM_001408408.1:c.779-418A>T
  • NM_001408409.1:c.710-418A>T
  • NM_001408410.1:c.647-418A>T
  • NM_001408411.1:c.710-418A>T
  • NM_001408412.1:c.710-418A>T
  • NM_001408413.1:c.707-418A>T
  • NM_001408414.1:c.710-418A>T
  • NM_001408415.1:c.710-418A>T
  • NM_001408416.1:c.707-418A>T
  • NM_001408418.1:c.671-418A>T
  • NM_001408419.1:c.671-418A>T
  • NM_001408420.1:c.671-418A>T
  • NM_001408421.1:c.668-418A>T
  • NM_001408422.1:c.671-418A>T
  • NM_001408423.1:c.671-418A>T
  • NM_001408424.1:c.668-418A>T
  • NM_001408425.1:c.665-418A>T
  • NM_001408426.1:c.665-418A>T
  • NM_001408427.1:c.665-418A>T
  • NM_001408428.1:c.665-418A>T
  • NM_001408429.1:c.665-418A>T
  • NM_001408430.1:c.665-418A>T
  • NM_001408431.1:c.668-418A>T
  • NM_001408432.1:c.662-418A>T
  • NM_001408433.1:c.662-418A>T
  • NM_001408434.1:c.662-418A>T
  • NM_001408435.1:c.662-418A>T
  • NM_001408436.1:c.665-418A>T
  • NM_001408437.1:c.665-418A>T
  • NM_001408438.1:c.665-418A>T
  • NM_001408439.1:c.665-418A>T
  • NM_001408440.1:c.665-418A>T
  • NM_001408441.1:c.665-418A>T
  • NM_001408442.1:c.665-418A>T
  • NM_001408443.1:c.665-418A>T
  • NM_001408444.1:c.665-418A>T
  • NM_001408445.1:c.662-418A>T
  • NM_001408446.1:c.662-418A>T
  • NM_001408447.1:c.662-418A>T
  • NM_001408448.1:c.662-418A>T
  • NM_001408450.1:c.662-418A>T
  • NM_001408451.1:c.653-418A>T
  • NM_001408452.1:c.647-418A>T
  • NM_001408453.1:c.647-418A>T
  • NM_001408454.1:c.647-418A>T
  • NM_001408455.1:c.647-418A>T
  • NM_001408456.1:c.647-418A>T
  • NM_001408457.1:c.647-418A>T
  • NM_001408458.1:c.647-418A>T
  • NM_001408459.1:c.647-418A>T
  • NM_001408460.1:c.647-418A>T
  • NM_001408461.1:c.647-418A>T
  • NM_001408462.1:c.644-418A>T
  • NM_001408463.1:c.644-418A>T
  • NM_001408464.1:c.644-418A>T
  • NM_001408465.1:c.644-418A>T
  • NM_001408466.1:c.647-418A>T
  • NM_001408467.1:c.647-418A>T
  • NM_001408468.1:c.644-418A>T
  • NM_001408469.1:c.647-418A>T
  • NM_001408470.1:c.644-418A>T
  • NM_001408472.1:c.788-418A>T
  • NM_001408473.1:c.785-418A>T
  • NM_001408474.1:c.587-418A>T
  • NM_001408475.1:c.584-418A>T
  • NM_001408476.1:c.587-418A>T
  • NM_001408478.1:c.578-418A>T
  • NM_001408479.1:c.578-418A>T
  • NM_001408480.1:c.578-418A>T
  • NM_001408481.1:c.578-418A>T
  • NM_001408482.1:c.578-418A>T
  • NM_001408483.1:c.578-418A>T
  • NM_001408484.1:c.578-418A>T
  • NM_001408485.1:c.578-418A>T
  • NM_001408489.1:c.578-418A>T
  • NM_001408490.1:c.575-418A>T
  • NM_001408491.1:c.575-418A>T
  • NM_001408492.1:c.578-418A>T
  • NM_001408493.1:c.575-418A>T
  • NM_001408494.1:c.548-418A>T
  • NM_001408495.1:c.545-418A>T
  • NM_001408496.1:c.524-418A>T
  • NM_001408497.1:c.524-418A>T
  • NM_001408498.1:c.524-418A>T
  • NM_001408499.1:c.524-418A>T
  • NM_001408500.1:c.524-418A>T
  • NM_001408501.1:c.524-418A>T
  • NM_001408502.1:c.455-418A>T
  • NM_001408503.1:c.521-418A>T
  • NM_001408504.1:c.521-418A>T
  • NM_001408505.1:c.521-418A>T
  • NM_001408506.1:c.461-418A>T
  • NM_001408507.1:c.461-418A>T
  • NM_001408508.1:c.452-418A>T
  • NM_001408509.1:c.452-418A>T
  • NM_001408510.1:c.407-418A>T
  • NM_001408511.1:c.404-418A>T
  • NM_001408512.1:c.284-418A>T
  • NM_001408513.1:c.578-418A>T
  • NM_001408514.1:c.578-418A>T
  • NM_007294.4:c.4081A>TMANE SELECT
  • NM_007297.4:c.3940A>T
  • NM_007298.4:c.788-418A>T
  • NM_007299.4:c.788-418A>T
  • NM_007300.4:c.4081A>T
  • NP_001394500.1:p.Met1290Leu
  • NP_001394510.1:p.Met1361Leu
  • NP_001394511.1:p.Met1361Leu
  • NP_001394512.1:p.Met1361Leu
  • NP_001394514.1:p.Met1361Leu
  • NP_001394516.1:p.Met1360Leu
  • NP_001394519.1:p.Met1360Leu
  • NP_001394520.1:p.Met1360Leu
  • NP_001394522.1:p.Met1361Leu
  • NP_001394523.1:p.Met1361Leu
  • NP_001394525.1:p.Met1361Leu
  • NP_001394526.1:p.Met1361Leu
  • NP_001394527.1:p.Met1361Leu
  • NP_001394531.1:p.Met1361Leu
  • NP_001394532.1:p.Met1361Leu
  • NP_001394534.1:p.Met1361Leu
  • NP_001394539.1:p.Met1360Leu
  • NP_001394540.1:p.Met1360Leu
  • NP_001394541.1:p.Met1360Leu
  • NP_001394542.1:p.Met1360Leu
  • NP_001394543.1:p.Met1360Leu
  • NP_001394544.1:p.Met1360Leu
  • NP_001394545.1:p.Met1361Leu
  • NP_001394546.1:p.Met1361Leu
  • NP_001394547.1:p.Met1361Leu
  • NP_001394548.1:p.Met1361Leu
  • NP_001394549.1:p.Met1361Leu
  • NP_001394550.1:p.Met1361Leu
  • NP_001394551.1:p.Met1361Leu
  • NP_001394552.1:p.Met1361Leu
  • NP_001394553.1:p.Met1361Leu
  • NP_001394554.1:p.Met1361Leu
  • NP_001394555.1:p.Met1361Leu
  • NP_001394556.1:p.Met1360Leu
  • NP_001394557.1:p.Met1360Leu
  • NP_001394558.1:p.Met1360Leu
  • NP_001394559.1:p.Met1360Leu
  • NP_001394560.1:p.Met1360Leu
  • NP_001394561.1:p.Met1360Leu
  • NP_001394562.1:p.Met1360Leu
  • NP_001394563.1:p.Met1360Leu
  • NP_001394564.1:p.Met1360Leu
  • NP_001394565.1:p.Met1360Leu
  • NP_001394566.1:p.Met1360Leu
  • NP_001394567.1:p.Met1360Leu
  • NP_001394568.1:p.Met1361Leu
  • NP_001394569.1:p.Met1361Leu
  • NP_001394570.1:p.Met1361Leu
  • NP_001394571.1:p.Met1361Leu
  • NP_001394573.1:p.Met1360Leu
  • NP_001394574.1:p.Met1360Leu
  • NP_001394575.1:p.Met1358Leu
  • NP_001394576.1:p.Met1358Leu
  • NP_001394577.1:p.Met1320Leu
  • NP_001394578.1:p.Met1319Leu
  • NP_001394581.1:p.Met1361Leu
  • NP_001394582.1:p.Met1335Leu
  • NP_001394583.1:p.Met1335Leu
  • NP_001394584.1:p.Met1335Leu
  • NP_001394585.1:p.Met1335Leu
  • NP_001394586.1:p.Met1335Leu
  • NP_001394587.1:p.Met1335Leu
  • NP_001394588.1:p.Met1334Leu
  • NP_001394589.1:p.Met1334Leu
  • NP_001394590.1:p.Met1334Leu
  • NP_001394591.1:p.Met1334Leu
  • NP_001394592.1:p.Met1335Leu
  • NP_001394593.1:p.Met1320Leu
  • NP_001394594.1:p.Met1320Leu
  • NP_001394595.1:p.Met1320Leu
  • NP_001394596.1:p.Met1320Leu
  • NP_001394597.1:p.Met1320Leu
  • NP_001394598.1:p.Met1320Leu
  • NP_001394599.1:p.Met1319Leu
  • NP_001394600.1:p.Met1319Leu
  • NP_001394601.1:p.Met1319Leu
  • NP_001394602.1:p.Met1319Leu
  • NP_001394603.1:p.Met1320Leu
  • NP_001394604.1:p.Met1320Leu
  • NP_001394605.1:p.Met1320Leu
  • NP_001394606.1:p.Met1320Leu
  • NP_001394607.1:p.Met1320Leu
  • NP_001394608.1:p.Met1320Leu
  • NP_001394609.1:p.Met1320Leu
  • NP_001394610.1:p.Met1320Leu
  • NP_001394611.1:p.Met1320Leu
  • NP_001394612.1:p.Met1320Leu
  • NP_001394613.1:p.Met1361Leu
  • NP_001394614.1:p.Met1319Leu
  • NP_001394615.1:p.Met1319Leu
  • NP_001394616.1:p.Met1319Leu
  • NP_001394617.1:p.Met1319Leu
  • NP_001394618.1:p.Met1319Leu
  • NP_001394619.1:p.Met1319Leu
  • NP_001394620.1:p.Met1319Leu
  • NP_001394621.1:p.Met1314Leu
  • NP_001394623.1:p.Met1314Leu
  • NP_001394624.1:p.Met1314Leu
  • NP_001394625.1:p.Met1314Leu
  • NP_001394626.1:p.Met1314Leu
  • NP_001394627.1:p.Met1314Leu
  • NP_001394653.1:p.Met1314Leu
  • NP_001394654.1:p.Met1314Leu
  • NP_001394655.1:p.Met1314Leu
  • NP_001394656.1:p.Met1314Leu
  • NP_001394657.1:p.Met1314Leu
  • NP_001394658.1:p.Met1314Leu
  • NP_001394659.1:p.Met1314Leu
  • NP_001394660.1:p.Met1314Leu
  • NP_001394661.1:p.Met1314Leu
  • NP_001394662.1:p.Met1314Leu
  • NP_001394663.1:p.Met1314Leu
  • NP_001394664.1:p.Met1314Leu
  • NP_001394665.1:p.Met1314Leu
  • NP_001394666.1:p.Met1314Leu
  • NP_001394667.1:p.Met1314Leu
  • NP_001394668.1:p.Met1314Leu
  • NP_001394669.1:p.Met1313Leu
  • NP_001394670.1:p.Met1313Leu
  • NP_001394671.1:p.Met1313Leu
  • NP_001394672.1:p.Met1313Leu
  • NP_001394673.1:p.Met1313Leu
  • NP_001394674.1:p.Met1313Leu
  • NP_001394675.1:p.Met1313Leu
  • NP_001394676.1:p.Met1313Leu
  • NP_001394677.1:p.Met1313Leu
  • NP_001394678.1:p.Met1313Leu
  • NP_001394679.1:p.Met1314Leu
  • NP_001394680.1:p.Met1314Leu
  • NP_001394681.1:p.Met1314Leu
  • NP_001394767.1:p.Met1313Leu
  • NP_001394768.1:p.Met1313Leu
  • NP_001394770.1:p.Met1313Leu
  • NP_001394771.1:p.Met1313Leu
  • NP_001394772.1:p.Met1313Leu
  • NP_001394773.1:p.Met1313Leu
  • NP_001394774.1:p.Met1313Leu
  • NP_001394775.1:p.Met1313Leu
  • NP_001394776.1:p.Met1313Leu
  • NP_001394777.1:p.Met1313Leu
  • NP_001394778.1:p.Met1313Leu
  • NP_001394779.1:p.Met1314Leu
  • NP_001394780.1:p.Met1314Leu
  • NP_001394781.1:p.Met1314Leu
  • NP_001394782.1:p.Met1290Leu
  • NP_001394783.1:p.Met1361Leu
  • NP_001394787.1:p.Met1361Leu
  • NP_001394788.1:p.Met1361Leu
  • NP_001394789.1:p.Met1360Leu
  • NP_001394790.1:p.Met1360Leu
  • NP_001394791.1:p.Met1294Leu
  • NP_001394792.1:p.Met1320Leu
  • NP_001394803.1:p.Met1293Leu
  • NP_001394804.1:p.Met1293Leu
  • NP_001394808.1:p.Met1291Leu
  • NP_001394810.1:p.Met1291Leu
  • NP_001394811.1:p.Met1291Leu
  • NP_001394813.1:p.Met1291Leu
  • NP_001394814.1:p.Met1291Leu
  • NP_001394815.1:p.Met1291Leu
  • NP_001394816.1:p.Met1291Leu
  • NP_001394818.1:p.Met1291Leu
  • NP_001394823.1:p.Met1290Leu
  • NP_001394824.1:p.Met1290Leu
  • NP_001394825.1:p.Met1290Leu
  • NP_001394826.1:p.Met1290Leu
  • NP_001394827.1:p.Met1290Leu
  • NP_001394828.1:p.Met1290Leu
  • NP_001394829.1:p.Met1291Leu
  • NP_001394831.1:p.Met1291Leu
  • NP_001394833.1:p.Met1291Leu
  • NP_001394835.1:p.Met1291Leu
  • NP_001394836.1:p.Met1291Leu
  • NP_001394837.1:p.Met1291Leu
  • NP_001394838.1:p.Met1291Leu
  • NP_001394839.1:p.Met1291Leu
  • NP_001394844.1:p.Met1290Leu
  • NP_001394845.1:p.Met1290Leu
  • NP_001394846.1:p.Met1290Leu
  • NP_001394847.1:p.Met1290Leu
  • NP_001394848.1:p.Met1320Leu
  • NP_001394849.1:p.Met1273Leu
  • NP_001394850.1:p.Met1273Leu
  • NP_001394851.1:p.Met1273Leu
  • NP_001394852.1:p.Met1273Leu
  • NP_001394853.1:p.Met1273Leu
  • NP_001394854.1:p.Met1273Leu
  • NP_001394855.1:p.Met1273Leu
  • NP_001394856.1:p.Met1273Leu
  • NP_001394857.1:p.Met1273Leu
  • NP_001394858.1:p.Met1273Leu
  • NP_001394859.1:p.Met1272Leu
  • NP_001394860.1:p.Met1272Leu
  • NP_001394861.1:p.Met1272Leu
  • NP_001394862.1:p.Met1273Leu
  • NP_001394863.1:p.Met1272Leu
  • NP_001394864.1:p.Met1273Leu
  • NP_001394865.1:p.Met1272Leu
  • NP_001394866.1:p.Met1320Leu
  • NP_001394867.1:p.Met1320Leu
  • NP_001394868.1:p.Met1320Leu
  • NP_001394869.1:p.Met1319Leu
  • NP_001394870.1:p.Met1319Leu
  • NP_001394871.1:p.Met1314Leu
  • NP_001394872.1:p.Met1313Leu
  • NP_001394873.1:p.Met1314Leu
  • NP_001394874.1:p.Met1314Leu
  • NP_001394875.1:p.Met1250Leu
  • NP_001394876.1:p.Met1250Leu
  • NP_001394877.1:p.Met1250Leu
  • NP_001394878.1:p.Met1250Leu
  • NP_001394879.1:p.Met1250Leu
  • NP_001394880.1:p.Met1250Leu
  • NP_001394881.1:p.Met1250Leu
  • NP_001394882.1:p.Met1250Leu
  • NP_001394883.1:p.Met1249Leu
  • NP_001394884.1:p.Met1249Leu
  • NP_001394885.1:p.Met1249Leu
  • NP_001394886.1:p.Met1250Leu
  • NP_001394887.1:p.Met1249Leu
  • NP_001394888.1:p.Met1234Leu
  • NP_001394889.1:p.Met1234Leu
  • NP_001394891.1:p.Met1233Leu
  • NP_001394892.1:p.Met1234Leu
  • NP_001394893.1:p.Met1313Leu
  • NP_001394894.1:p.Met1193Leu
  • NP_001394895.1:p.Met1065Leu
  • NP_001394896.1:p.Met1065Leu
  • NP_001394897.1:p.Met493Leu
  • NP_001394898.1:p.Met493Leu
  • NP_009225.1:p.Met1361Leu
  • NP_009225.1:p.Met1361Leu
  • NP_009228.2:p.Met1314Leu
  • NP_009231.2:p.Met1361Leu
  • LRG_292t1:c.4081A>T
  • LRG_292:g.126534A>T
  • LRG_292p1:p.Met1361Leu
  • NC_000017.10:g.41243467T>A
  • NM_007294.3:c.4081A>T
  • NR_027676.1:n.4217A>T
Protein change:
M1065L
Links:
dbSNP: rs80357218
NCBI 1000 Genomes Browser:
rs80357218
Molecular consequence:
  • NM_001407970.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-427A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-418A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3868A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4072A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4072A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4003A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4003A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4003A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4003A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4003A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4003A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4000A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4000A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4000A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4000A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4003A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3868A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4078A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3880A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3877A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3877A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3868A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3868A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3868A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3868A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3868A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3868A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3871A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3868A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3868A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3868A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3868A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3817A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3817A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3817A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3817A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3817A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3817A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3817A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3817A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3817A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3817A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3814A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3814A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3814A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3817A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3814A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3817A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3814A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3958A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3955A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3748A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3748A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3748A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3748A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3748A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3748A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3748A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3748A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3745A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3745A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3745A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3748A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3745A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3700A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3700A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3697A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3700A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3937A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3577A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3193A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3193A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1477A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1477A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4081A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161589Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))		Benign
(Jun 18, 2019) 		germlinecuration

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

PubMed [citation]
PMID:
31131967
PMCID:
PMC6772163

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161589.2

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

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000195

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

Last Updated: Sep 29, 2024