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NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 14, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000438101.12

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

NM_007294.4(BRCA1):c.4081A>C (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>C (p.Met1361Leu)
Other names:
4200A>C
HGVS:
  • NC_000017.11:g.43091450T>G
  • NG_005905.2:g.126534A>C
  • NG_087068.1:g.432T>G
  • NM_001407571.1:c.3868A>C
  • NM_001407581.1:c.4081A>C
  • NM_001407582.1:c.4081A>C
  • NM_001407583.1:c.4081A>C
  • NM_001407585.1:c.4081A>C
  • NM_001407587.1:c.4078A>C
  • NM_001407590.1:c.4078A>C
  • NM_001407591.1:c.4078A>C
  • NM_001407593.1:c.4081A>C
  • NM_001407594.1:c.4081A>C
  • NM_001407596.1:c.4081A>C
  • NM_001407597.1:c.4081A>C
  • NM_001407598.1:c.4081A>C
  • NM_001407602.1:c.4081A>C
  • NM_001407603.1:c.4081A>C
  • NM_001407605.1:c.4081A>C
  • NM_001407610.1:c.4078A>C
  • NM_001407611.1:c.4078A>C
  • NM_001407612.1:c.4078A>C
  • NM_001407613.1:c.4078A>C
  • NM_001407614.1:c.4078A>C
  • NM_001407615.1:c.4078A>C
  • NM_001407616.1:c.4081A>C
  • NM_001407617.1:c.4081A>C
  • NM_001407618.1:c.4081A>C
  • NM_001407619.1:c.4081A>C
  • NM_001407620.1:c.4081A>C
  • NM_001407621.1:c.4081A>C
  • NM_001407622.1:c.4081A>C
  • NM_001407623.1:c.4081A>C
  • NM_001407624.1:c.4081A>C
  • NM_001407625.1:c.4081A>C
  • NM_001407626.1:c.4081A>C
  • NM_001407627.1:c.4078A>C
  • NM_001407628.1:c.4078A>C
  • NM_001407629.1:c.4078A>C
  • NM_001407630.1:c.4078A>C
  • NM_001407631.1:c.4078A>C
  • NM_001407632.1:c.4078A>C
  • NM_001407633.1:c.4078A>C
  • NM_001407634.1:c.4078A>C
  • NM_001407635.1:c.4078A>C
  • NM_001407636.1:c.4078A>C
  • NM_001407637.1:c.4078A>C
  • NM_001407638.1:c.4078A>C
  • NM_001407639.1:c.4081A>C
  • NM_001407640.1:c.4081A>C
  • NM_001407641.1:c.4081A>C
  • NM_001407642.1:c.4081A>C
  • NM_001407644.1:c.4078A>C
  • NM_001407645.1:c.4078A>C
  • NM_001407646.1:c.4072A>C
  • NM_001407647.1:c.4072A>C
  • NM_001407648.1:c.3958A>C
  • NM_001407649.1:c.3955A>C
  • NM_001407652.1:c.4081A>C
  • NM_001407653.1:c.4003A>C
  • NM_001407654.1:c.4003A>C
  • NM_001407655.1:c.4003A>C
  • NM_001407656.1:c.4003A>C
  • NM_001407657.1:c.4003A>C
  • NM_001407658.1:c.4003A>C
  • NM_001407659.1:c.4000A>C
  • NM_001407660.1:c.4000A>C
  • NM_001407661.1:c.4000A>C
  • NM_001407662.1:c.4000A>C
  • NM_001407663.1:c.4003A>C
  • NM_001407664.1:c.3958A>C
  • NM_001407665.1:c.3958A>C
  • NM_001407666.1:c.3958A>C
  • NM_001407667.1:c.3958A>C
  • NM_001407668.1:c.3958A>C
  • NM_001407669.1:c.3958A>C
  • NM_001407670.1:c.3955A>C
  • NM_001407671.1:c.3955A>C
  • NM_001407672.1:c.3955A>C
  • NM_001407673.1:c.3955A>C
  • NM_001407674.1:c.3958A>C
  • NM_001407675.1:c.3958A>C
  • NM_001407676.1:c.3958A>C
  • NM_001407677.1:c.3958A>C
  • NM_001407678.1:c.3958A>C
  • NM_001407679.1:c.3958A>C
  • NM_001407680.1:c.3958A>C
  • NM_001407681.1:c.3958A>C
  • NM_001407682.1:c.3958A>C
  • NM_001407683.1:c.3958A>C
  • NM_001407684.1:c.4081A>C
  • NM_001407685.1:c.3955A>C
  • NM_001407686.1:c.3955A>C
  • NM_001407687.1:c.3955A>C
  • NM_001407688.1:c.3955A>C
  • NM_001407689.1:c.3955A>C
  • NM_001407690.1:c.3955A>C
  • NM_001407691.1:c.3955A>C
  • NM_001407692.1:c.3940A>C
  • NM_001407694.1:c.3940A>C
  • NM_001407695.1:c.3940A>C
  • NM_001407696.1:c.3940A>C
  • NM_001407697.1:c.3940A>C
  • NM_001407698.1:c.3940A>C
  • NM_001407724.1:c.3940A>C
  • NM_001407725.1:c.3940A>C
  • NM_001407726.1:c.3940A>C
  • NM_001407727.1:c.3940A>C
  • NM_001407728.1:c.3940A>C
  • NM_001407729.1:c.3940A>C
  • NM_001407730.1:c.3940A>C
  • NM_001407731.1:c.3940A>C
  • NM_001407732.1:c.3940A>C
  • NM_001407733.1:c.3940A>C
  • NM_001407734.1:c.3940A>C
  • NM_001407735.1:c.3940A>C
  • NM_001407736.1:c.3940A>C
  • NM_001407737.1:c.3940A>C
  • NM_001407738.1:c.3940A>C
  • NM_001407739.1:c.3940A>C
  • NM_001407740.1:c.3937A>C
  • NM_001407741.1:c.3937A>C
  • NM_001407742.1:c.3937A>C
  • NM_001407743.1:c.3937A>C
  • NM_001407744.1:c.3937A>C
  • NM_001407745.1:c.3937A>C
  • NM_001407746.1:c.3937A>C
  • NM_001407747.1:c.3937A>C
  • NM_001407748.1:c.3937A>C
  • NM_001407749.1:c.3937A>C
  • NM_001407750.1:c.3940A>C
  • NM_001407751.1:c.3940A>C
  • NM_001407752.1:c.3940A>C
  • NM_001407838.1:c.3937A>C
  • NM_001407839.1:c.3937A>C
  • NM_001407841.1:c.3937A>C
  • NM_001407842.1:c.3937A>C
  • NM_001407843.1:c.3937A>C
  • NM_001407844.1:c.3937A>C
  • NM_001407845.1:c.3937A>C
  • NM_001407846.1:c.3937A>C
  • NM_001407847.1:c.3937A>C
  • NM_001407848.1:c.3937A>C
  • NM_001407849.1:c.3937A>C
  • NM_001407850.1:c.3940A>C
  • NM_001407851.1:c.3940A>C
  • NM_001407852.1:c.3940A>C
  • NM_001407853.1:c.3868A>C
  • NM_001407854.1:c.4081A>C
  • NM_001407858.1:c.4081A>C
  • NM_001407859.1:c.4081A>C
  • NM_001407860.1:c.4078A>C
  • NM_001407861.1:c.4078A>C
  • NM_001407862.1:c.3880A>C
  • NM_001407863.1:c.3958A>C
  • NM_001407874.1:c.3877A>C
  • NM_001407875.1:c.3877A>C
  • NM_001407879.1:c.3871A>C
  • NM_001407881.1:c.3871A>C
  • NM_001407882.1:c.3871A>C
  • NM_001407884.1:c.3871A>C
  • NM_001407885.1:c.3871A>C
  • NM_001407886.1:c.3871A>C
  • NM_001407887.1:c.3871A>C
  • NM_001407889.1:c.3871A>C
  • NM_001407894.1:c.3868A>C
  • NM_001407895.1:c.3868A>C
  • NM_001407896.1:c.3868A>C
  • NM_001407897.1:c.3868A>C
  • NM_001407898.1:c.3868A>C
  • NM_001407899.1:c.3868A>C
  • NM_001407900.1:c.3871A>C
  • NM_001407902.1:c.3871A>C
  • NM_001407904.1:c.3871A>C
  • NM_001407906.1:c.3871A>C
  • NM_001407907.1:c.3871A>C
  • NM_001407908.1:c.3871A>C
  • NM_001407909.1:c.3871A>C
  • NM_001407910.1:c.3871A>C
  • NM_001407915.1:c.3868A>C
  • NM_001407916.1:c.3868A>C
  • NM_001407917.1:c.3868A>C
  • NM_001407918.1:c.3868A>C
  • NM_001407919.1:c.3958A>C
  • NM_001407920.1:c.3817A>C
  • NM_001407921.1:c.3817A>C
  • NM_001407922.1:c.3817A>C
  • NM_001407923.1:c.3817A>C
  • NM_001407924.1:c.3817A>C
  • NM_001407925.1:c.3817A>C
  • NM_001407926.1:c.3817A>C
  • NM_001407927.1:c.3817A>C
  • NM_001407928.1:c.3817A>C
  • NM_001407929.1:c.3817A>C
  • NM_001407930.1:c.3814A>C
  • NM_001407931.1:c.3814A>C
  • NM_001407932.1:c.3814A>C
  • NM_001407933.1:c.3817A>C
  • NM_001407934.1:c.3814A>C
  • NM_001407935.1:c.3817A>C
  • NM_001407936.1:c.3814A>C
  • NM_001407937.1:c.3958A>C
  • NM_001407938.1:c.3958A>C
  • NM_001407939.1:c.3958A>C
  • NM_001407940.1:c.3955A>C
  • NM_001407941.1:c.3955A>C
  • NM_001407942.1:c.3940A>C
  • NM_001407943.1:c.3937A>C
  • NM_001407944.1:c.3940A>C
  • NM_001407945.1:c.3940A>C
  • NM_001407946.1:c.3748A>C
  • NM_001407947.1:c.3748A>C
  • NM_001407948.1:c.3748A>C
  • NM_001407949.1:c.3748A>C
  • NM_001407950.1:c.3748A>C
  • NM_001407951.1:c.3748A>C
  • NM_001407952.1:c.3748A>C
  • NM_001407953.1:c.3748A>C
  • NM_001407954.1:c.3745A>C
  • NM_001407955.1:c.3745A>C
  • NM_001407956.1:c.3745A>C
  • NM_001407957.1:c.3748A>C
  • NM_001407958.1:c.3745A>C
  • NM_001407959.1:c.3700A>C
  • NM_001407960.1:c.3700A>C
  • NM_001407962.1:c.3697A>C
  • NM_001407963.1:c.3700A>C
  • NM_001407964.1:c.3937A>C
  • NM_001407965.1:c.3577A>C
  • NM_001407966.1:c.3193A>C
  • NM_001407967.1:c.3193A>C
  • NM_001407968.1:c.1477A>C
  • NM_001407969.1:c.1477A>C
  • NM_001407970.1:c.788-418A>C
  • NM_001407971.1:c.788-418A>C
  • NM_001407972.1:c.785-418A>C
  • NM_001407973.1:c.788-418A>C
  • NM_001407974.1:c.788-418A>C
  • NM_001407975.1:c.788-418A>C
  • NM_001407976.1:c.788-418A>C
  • NM_001407977.1:c.788-418A>C
  • NM_001407978.1:c.788-418A>C
  • NM_001407979.1:c.788-418A>C
  • NM_001407980.1:c.788-418A>C
  • NM_001407981.1:c.788-418A>C
  • NM_001407982.1:c.788-418A>C
  • NM_001407983.1:c.788-418A>C
  • NM_001407984.1:c.785-418A>C
  • NM_001407985.1:c.785-418A>C
  • NM_001407986.1:c.785-418A>C
  • NM_001407990.1:c.788-418A>C
  • NM_001407991.1:c.785-418A>C
  • NM_001407992.1:c.785-418A>C
  • NM_001407993.1:c.788-418A>C
  • NM_001408392.1:c.785-418A>C
  • NM_001408396.1:c.785-418A>C
  • NM_001408397.1:c.785-418A>C
  • NM_001408398.1:c.785-418A>C
  • NM_001408399.1:c.785-418A>C
  • NM_001408400.1:c.785-418A>C
  • NM_001408401.1:c.785-418A>C
  • NM_001408402.1:c.785-418A>C
  • NM_001408403.1:c.788-418A>C
  • NM_001408404.1:c.788-418A>C
  • NM_001408406.1:c.791-427A>C
  • NM_001408407.1:c.785-418A>C
  • NM_001408408.1:c.779-418A>C
  • NM_001408409.1:c.710-418A>C
  • NM_001408410.1:c.647-418A>C
  • NM_001408411.1:c.710-418A>C
  • NM_001408412.1:c.710-418A>C
  • NM_001408413.1:c.707-418A>C
  • NM_001408414.1:c.710-418A>C
  • NM_001408415.1:c.710-418A>C
  • NM_001408416.1:c.707-418A>C
  • NM_001408418.1:c.671-418A>C
  • NM_001408419.1:c.671-418A>C
  • NM_001408420.1:c.671-418A>C
  • NM_001408421.1:c.668-418A>C
  • NM_001408422.1:c.671-418A>C
  • NM_001408423.1:c.671-418A>C
  • NM_001408424.1:c.668-418A>C
  • NM_001408425.1:c.665-418A>C
  • NM_001408426.1:c.665-418A>C
  • NM_001408427.1:c.665-418A>C
  • NM_001408428.1:c.665-418A>C
  • NM_001408429.1:c.665-418A>C
  • NM_001408430.1:c.665-418A>C
  • NM_001408431.1:c.668-418A>C
  • NM_001408432.1:c.662-418A>C
  • NM_001408433.1:c.662-418A>C
  • NM_001408434.1:c.662-418A>C
  • NM_001408435.1:c.662-418A>C
  • NM_001408436.1:c.665-418A>C
  • NM_001408437.1:c.665-418A>C
  • NM_001408438.1:c.665-418A>C
  • NM_001408439.1:c.665-418A>C
  • NM_001408440.1:c.665-418A>C
  • NM_001408441.1:c.665-418A>C
  • NM_001408442.1:c.665-418A>C
  • NM_001408443.1:c.665-418A>C
  • NM_001408444.1:c.665-418A>C
  • NM_001408445.1:c.662-418A>C
  • NM_001408446.1:c.662-418A>C
  • NM_001408447.1:c.662-418A>C
  • NM_001408448.1:c.662-418A>C
  • NM_001408450.1:c.662-418A>C
  • NM_001408451.1:c.653-418A>C
  • NM_001408452.1:c.647-418A>C
  • NM_001408453.1:c.647-418A>C
  • NM_001408454.1:c.647-418A>C
  • NM_001408455.1:c.647-418A>C
  • NM_001408456.1:c.647-418A>C
  • NM_001408457.1:c.647-418A>C
  • NM_001408458.1:c.647-418A>C
  • NM_001408459.1:c.647-418A>C
  • NM_001408460.1:c.647-418A>C
  • NM_001408461.1:c.647-418A>C
  • NM_001408462.1:c.644-418A>C
  • NM_001408463.1:c.644-418A>C
  • NM_001408464.1:c.644-418A>C
  • NM_001408465.1:c.644-418A>C
  • NM_001408466.1:c.647-418A>C
  • NM_001408467.1:c.647-418A>C
  • NM_001408468.1:c.644-418A>C
  • NM_001408469.1:c.647-418A>C
  • NM_001408470.1:c.644-418A>C
  • NM_001408472.1:c.788-418A>C
  • NM_001408473.1:c.785-418A>C
  • NM_001408474.1:c.587-418A>C
  • NM_001408475.1:c.584-418A>C
  • NM_001408476.1:c.587-418A>C
  • NM_001408478.1:c.578-418A>C
  • NM_001408479.1:c.578-418A>C
  • NM_001408480.1:c.578-418A>C
  • NM_001408481.1:c.578-418A>C
  • NM_001408482.1:c.578-418A>C
  • NM_001408483.1:c.578-418A>C
  • NM_001408484.1:c.578-418A>C
  • NM_001408485.1:c.578-418A>C
  • NM_001408489.1:c.578-418A>C
  • NM_001408490.1:c.575-418A>C
  • NM_001408491.1:c.575-418A>C
  • NM_001408492.1:c.578-418A>C
  • NM_001408493.1:c.575-418A>C
  • NM_001408494.1:c.548-418A>C
  • NM_001408495.1:c.545-418A>C
  • NM_001408496.1:c.524-418A>C
  • NM_001408497.1:c.524-418A>C
  • NM_001408498.1:c.524-418A>C
  • NM_001408499.1:c.524-418A>C
  • NM_001408500.1:c.524-418A>C
  • NM_001408501.1:c.524-418A>C
  • NM_001408502.1:c.455-418A>C
  • NM_001408503.1:c.521-418A>C
  • NM_001408504.1:c.521-418A>C
  • NM_001408505.1:c.521-418A>C
  • NM_001408506.1:c.461-418A>C
  • NM_001408507.1:c.461-418A>C
  • NM_001408508.1:c.452-418A>C
  • NM_001408509.1:c.452-418A>C
  • NM_001408510.1:c.407-418A>C
  • NM_001408511.1:c.404-418A>C
  • NM_001408512.1:c.284-418A>C
  • NM_001408513.1:c.578-418A>C
  • NM_001408514.1:c.578-418A>C
  • NM_007294.4:c.4081A>CMANE SELECT
  • NM_007297.4:c.3940A>C
  • NM_007298.4:c.788-418A>C
  • NM_007299.4:c.788-418A>C
  • NM_007300.4:c.4081A>C
  • 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>C
  • LRG_292:g.126534A>C
  • LRG_292p1:p.Met1361Leu
  • NC_000017.10:g.41243467T>G
  • NM_007294.3:c.4081A>C
  • NR_027676.1:n.4217A>C
  • U14680.1:n.4200A>C
  • p.M1361L
Protein change:
M1065L
Links:
BRCA1-HCI: BRCA1_00084; dbSNP: rs80357218
NCBI 1000 Genomes Browser:
rs80357218
Molecular consequence:
  • NM_001407970.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-427A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-418A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4072A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4072A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4000A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4000A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4000A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4000A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4003A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4078A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3880A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3877A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3877A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3871A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3868A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3814A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3814A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3814A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3814A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3817A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3814A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3700A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3700A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3697A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3700A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3937A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3577A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3193A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3193A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1477A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1477A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4081A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000699106Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Feb 14, 2022) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]
PMID:
16267036

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]
PMID:
21990134
PMCID:
PMC3242438
See all PubMed Citations (8)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699106.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

Variant summary: BRCA1 c.4081A>C (p.Met1361Leu) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250858 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4081A>C has been reported in the literature in an individual affected with breast cancer (Lee_2008). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Multiple studies using multifactorial likelihood models have classified this variant as having a neutral impact (Easton_2007, Lindor_2012, Fernandes_2019, Parsons_2019) (IARC class I). To our knowledge, no other experimental evidence demonstrating an impact on protein function has been reported. Six other submitters, including an expert panel (ENIGMA), have provided clinical-significance assessments for this variant in ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely benign (n=4) / benign (n=2; including ENIGMA). Based on the evidence outlined above, the variant was classified as likely benign.

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

Last Updated: Apr 20, 2024