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NM_007294.4(BRCA1):c.3662A>C (p.Glu1221Ala) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 8, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000112150.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.3662A>C (p.Glu1221Ala)]

NM_007294.4(BRCA1):c.3662A>C (p.Glu1221Ala)

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.3662A>C (p.Glu1221Ala)
HGVS:
  • NC_000017.11:g.43091869T>G
  • NG_005905.2:g.126115A>C
  • NG_087068.1:g.851T>G
  • NM_001407571.1:c.3449A>C
  • NM_001407581.1:c.3662A>C
  • NM_001407582.1:c.3662A>C
  • NM_001407583.1:c.3662A>C
  • NM_001407585.1:c.3662A>C
  • NM_001407587.1:c.3659A>C
  • NM_001407590.1:c.3659A>C
  • NM_001407591.1:c.3659A>C
  • NM_001407593.1:c.3662A>C
  • NM_001407594.1:c.3662A>C
  • NM_001407596.1:c.3662A>C
  • NM_001407597.1:c.3662A>C
  • NM_001407598.1:c.3662A>C
  • NM_001407602.1:c.3662A>C
  • NM_001407603.1:c.3662A>C
  • NM_001407605.1:c.3662A>C
  • NM_001407610.1:c.3659A>C
  • NM_001407611.1:c.3659A>C
  • NM_001407612.1:c.3659A>C
  • NM_001407613.1:c.3659A>C
  • NM_001407614.1:c.3659A>C
  • NM_001407615.1:c.3659A>C
  • NM_001407616.1:c.3662A>C
  • NM_001407617.1:c.3662A>C
  • NM_001407618.1:c.3662A>C
  • NM_001407619.1:c.3662A>C
  • NM_001407620.1:c.3662A>C
  • NM_001407621.1:c.3662A>C
  • NM_001407622.1:c.3662A>C
  • NM_001407623.1:c.3662A>C
  • NM_001407624.1:c.3662A>C
  • NM_001407625.1:c.3662A>C
  • NM_001407626.1:c.3662A>C
  • NM_001407627.1:c.3659A>C
  • NM_001407628.1:c.3659A>C
  • NM_001407629.1:c.3659A>C
  • NM_001407630.1:c.3659A>C
  • NM_001407631.1:c.3659A>C
  • NM_001407632.1:c.3659A>C
  • NM_001407633.1:c.3659A>C
  • NM_001407634.1:c.3659A>C
  • NM_001407635.1:c.3659A>C
  • NM_001407636.1:c.3659A>C
  • NM_001407637.1:c.3659A>C
  • NM_001407638.1:c.3659A>C
  • NM_001407639.1:c.3662A>C
  • NM_001407640.1:c.3662A>C
  • NM_001407641.1:c.3662A>C
  • NM_001407642.1:c.3662A>C
  • NM_001407644.1:c.3659A>C
  • NM_001407645.1:c.3659A>C
  • NM_001407646.1:c.3653A>C
  • NM_001407647.1:c.3653A>C
  • NM_001407648.1:c.3539A>C
  • NM_001407649.1:c.3536A>C
  • NM_001407652.1:c.3662A>C
  • NM_001407653.1:c.3584A>C
  • NM_001407654.1:c.3584A>C
  • NM_001407655.1:c.3584A>C
  • NM_001407656.1:c.3584A>C
  • NM_001407657.1:c.3584A>C
  • NM_001407658.1:c.3584A>C
  • NM_001407659.1:c.3581A>C
  • NM_001407660.1:c.3581A>C
  • NM_001407661.1:c.3581A>C
  • NM_001407662.1:c.3581A>C
  • NM_001407663.1:c.3584A>C
  • NM_001407664.1:c.3539A>C
  • NM_001407665.1:c.3539A>C
  • NM_001407666.1:c.3539A>C
  • NM_001407667.1:c.3539A>C
  • NM_001407668.1:c.3539A>C
  • NM_001407669.1:c.3539A>C
  • NM_001407670.1:c.3536A>C
  • NM_001407671.1:c.3536A>C
  • NM_001407672.1:c.3536A>C
  • NM_001407673.1:c.3536A>C
  • NM_001407674.1:c.3539A>C
  • NM_001407675.1:c.3539A>C
  • NM_001407676.1:c.3539A>C
  • NM_001407677.1:c.3539A>C
  • NM_001407678.1:c.3539A>C
  • NM_001407679.1:c.3539A>C
  • NM_001407680.1:c.3539A>C
  • NM_001407681.1:c.3539A>C
  • NM_001407682.1:c.3539A>C
  • NM_001407683.1:c.3539A>C
  • NM_001407684.1:c.3662A>C
  • NM_001407685.1:c.3536A>C
  • NM_001407686.1:c.3536A>C
  • NM_001407687.1:c.3536A>C
  • NM_001407688.1:c.3536A>C
  • NM_001407689.1:c.3536A>C
  • NM_001407690.1:c.3536A>C
  • NM_001407691.1:c.3536A>C
  • NM_001407692.1:c.3521A>C
  • NM_001407694.1:c.3521A>C
  • NM_001407695.1:c.3521A>C
  • NM_001407696.1:c.3521A>C
  • NM_001407697.1:c.3521A>C
  • NM_001407698.1:c.3521A>C
  • NM_001407724.1:c.3521A>C
  • NM_001407725.1:c.3521A>C
  • NM_001407726.1:c.3521A>C
  • NM_001407727.1:c.3521A>C
  • NM_001407728.1:c.3521A>C
  • NM_001407729.1:c.3521A>C
  • NM_001407730.1:c.3521A>C
  • NM_001407731.1:c.3521A>C
  • NM_001407732.1:c.3521A>C
  • NM_001407733.1:c.3521A>C
  • NM_001407734.1:c.3521A>C
  • NM_001407735.1:c.3521A>C
  • NM_001407736.1:c.3521A>C
  • NM_001407737.1:c.3521A>C
  • NM_001407738.1:c.3521A>C
  • NM_001407739.1:c.3521A>C
  • NM_001407740.1:c.3518A>C
  • NM_001407741.1:c.3518A>C
  • NM_001407742.1:c.3518A>C
  • NM_001407743.1:c.3518A>C
  • NM_001407744.1:c.3518A>C
  • NM_001407745.1:c.3518A>C
  • NM_001407746.1:c.3518A>C
  • NM_001407747.1:c.3518A>C
  • NM_001407748.1:c.3518A>C
  • NM_001407749.1:c.3518A>C
  • NM_001407750.1:c.3521A>C
  • NM_001407751.1:c.3521A>C
  • NM_001407752.1:c.3521A>C
  • NM_001407838.1:c.3518A>C
  • NM_001407839.1:c.3518A>C
  • NM_001407841.1:c.3518A>C
  • NM_001407842.1:c.3518A>C
  • NM_001407843.1:c.3518A>C
  • NM_001407844.1:c.3518A>C
  • NM_001407845.1:c.3518A>C
  • NM_001407846.1:c.3518A>C
  • NM_001407847.1:c.3518A>C
  • NM_001407848.1:c.3518A>C
  • NM_001407849.1:c.3518A>C
  • NM_001407850.1:c.3521A>C
  • NM_001407851.1:c.3521A>C
  • NM_001407852.1:c.3521A>C
  • NM_001407853.1:c.3449A>C
  • NM_001407854.1:c.3662A>C
  • NM_001407858.1:c.3662A>C
  • NM_001407859.1:c.3662A>C
  • NM_001407860.1:c.3659A>C
  • NM_001407861.1:c.3659A>C
  • NM_001407862.1:c.3461A>C
  • NM_001407863.1:c.3539A>C
  • NM_001407874.1:c.3458A>C
  • NM_001407875.1:c.3458A>C
  • NM_001407879.1:c.3452A>C
  • NM_001407881.1:c.3452A>C
  • NM_001407882.1:c.3452A>C
  • NM_001407884.1:c.3452A>C
  • NM_001407885.1:c.3452A>C
  • NM_001407886.1:c.3452A>C
  • NM_001407887.1:c.3452A>C
  • NM_001407889.1:c.3452A>C
  • NM_001407894.1:c.3449A>C
  • NM_001407895.1:c.3449A>C
  • NM_001407896.1:c.3449A>C
  • NM_001407897.1:c.3449A>C
  • NM_001407898.1:c.3449A>C
  • NM_001407899.1:c.3449A>C
  • NM_001407900.1:c.3452A>C
  • NM_001407902.1:c.3452A>C
  • NM_001407904.1:c.3452A>C
  • NM_001407906.1:c.3452A>C
  • NM_001407907.1:c.3452A>C
  • NM_001407908.1:c.3452A>C
  • NM_001407909.1:c.3452A>C
  • NM_001407910.1:c.3452A>C
  • NM_001407915.1:c.3449A>C
  • NM_001407916.1:c.3449A>C
  • NM_001407917.1:c.3449A>C
  • NM_001407918.1:c.3449A>C
  • NM_001407919.1:c.3539A>C
  • NM_001407920.1:c.3398A>C
  • NM_001407921.1:c.3398A>C
  • NM_001407922.1:c.3398A>C
  • NM_001407923.1:c.3398A>C
  • NM_001407924.1:c.3398A>C
  • NM_001407925.1:c.3398A>C
  • NM_001407926.1:c.3398A>C
  • NM_001407927.1:c.3398A>C
  • NM_001407928.1:c.3398A>C
  • NM_001407929.1:c.3398A>C
  • NM_001407930.1:c.3395A>C
  • NM_001407931.1:c.3395A>C
  • NM_001407932.1:c.3395A>C
  • NM_001407933.1:c.3398A>C
  • NM_001407934.1:c.3395A>C
  • NM_001407935.1:c.3398A>C
  • NM_001407936.1:c.3395A>C
  • NM_001407937.1:c.3539A>C
  • NM_001407938.1:c.3539A>C
  • NM_001407939.1:c.3539A>C
  • NM_001407940.1:c.3536A>C
  • NM_001407941.1:c.3536A>C
  • NM_001407942.1:c.3521A>C
  • NM_001407943.1:c.3518A>C
  • NM_001407944.1:c.3521A>C
  • NM_001407945.1:c.3521A>C
  • NM_001407946.1:c.3329A>C
  • NM_001407947.1:c.3329A>C
  • NM_001407948.1:c.3329A>C
  • NM_001407949.1:c.3329A>C
  • NM_001407950.1:c.3329A>C
  • NM_001407951.1:c.3329A>C
  • NM_001407952.1:c.3329A>C
  • NM_001407953.1:c.3329A>C
  • NM_001407954.1:c.3326A>C
  • NM_001407955.1:c.3326A>C
  • NM_001407956.1:c.3326A>C
  • NM_001407957.1:c.3329A>C
  • NM_001407958.1:c.3326A>C
  • NM_001407959.1:c.3281A>C
  • NM_001407960.1:c.3281A>C
  • NM_001407962.1:c.3278A>C
  • NM_001407963.1:c.3281A>C
  • NM_001407964.1:c.3518A>C
  • NM_001407965.1:c.3158A>C
  • NM_001407966.1:c.2774A>C
  • NM_001407967.1:c.2774A>C
  • NM_001407968.1:c.1058A>C
  • NM_001407969.1:c.1058A>C
  • NM_001407970.1:c.788-837A>C
  • NM_001407971.1:c.788-837A>C
  • NM_001407972.1:c.785-837A>C
  • NM_001407973.1:c.788-837A>C
  • NM_001407974.1:c.788-837A>C
  • NM_001407975.1:c.788-837A>C
  • NM_001407976.1:c.788-837A>C
  • NM_001407977.1:c.788-837A>C
  • NM_001407978.1:c.788-837A>C
  • NM_001407979.1:c.788-837A>C
  • NM_001407980.1:c.788-837A>C
  • NM_001407981.1:c.788-837A>C
  • NM_001407982.1:c.788-837A>C
  • NM_001407983.1:c.788-837A>C
  • NM_001407984.1:c.785-837A>C
  • NM_001407985.1:c.785-837A>C
  • NM_001407986.1:c.785-837A>C
  • NM_001407990.1:c.788-837A>C
  • NM_001407991.1:c.785-837A>C
  • NM_001407992.1:c.785-837A>C
  • NM_001407993.1:c.788-837A>C
  • NM_001408392.1:c.785-837A>C
  • NM_001408396.1:c.785-837A>C
  • NM_001408397.1:c.785-837A>C
  • NM_001408398.1:c.785-837A>C
  • NM_001408399.1:c.785-837A>C
  • NM_001408400.1:c.785-837A>C
  • NM_001408401.1:c.785-837A>C
  • NM_001408402.1:c.785-837A>C
  • NM_001408403.1:c.788-837A>C
  • NM_001408404.1:c.788-837A>C
  • NM_001408406.1:c.791-846A>C
  • NM_001408407.1:c.785-837A>C
  • NM_001408408.1:c.779-837A>C
  • NM_001408409.1:c.710-837A>C
  • NM_001408410.1:c.647-837A>C
  • NM_001408411.1:c.710-837A>C
  • NM_001408412.1:c.710-837A>C
  • NM_001408413.1:c.707-837A>C
  • NM_001408414.1:c.710-837A>C
  • NM_001408415.1:c.710-837A>C
  • NM_001408416.1:c.707-837A>C
  • NM_001408418.1:c.671-837A>C
  • NM_001408419.1:c.671-837A>C
  • NM_001408420.1:c.671-837A>C
  • NM_001408421.1:c.668-837A>C
  • NM_001408422.1:c.671-837A>C
  • NM_001408423.1:c.671-837A>C
  • NM_001408424.1:c.668-837A>C
  • NM_001408425.1:c.665-837A>C
  • NM_001408426.1:c.665-837A>C
  • NM_001408427.1:c.665-837A>C
  • NM_001408428.1:c.665-837A>C
  • NM_001408429.1:c.665-837A>C
  • NM_001408430.1:c.665-837A>C
  • NM_001408431.1:c.668-837A>C
  • NM_001408432.1:c.662-837A>C
  • NM_001408433.1:c.662-837A>C
  • NM_001408434.1:c.662-837A>C
  • NM_001408435.1:c.662-837A>C
  • NM_001408436.1:c.665-837A>C
  • NM_001408437.1:c.665-837A>C
  • NM_001408438.1:c.665-837A>C
  • NM_001408439.1:c.665-837A>C
  • NM_001408440.1:c.665-837A>C
  • NM_001408441.1:c.665-837A>C
  • NM_001408442.1:c.665-837A>C
  • NM_001408443.1:c.665-837A>C
  • NM_001408444.1:c.665-837A>C
  • NM_001408445.1:c.662-837A>C
  • NM_001408446.1:c.662-837A>C
  • NM_001408447.1:c.662-837A>C
  • NM_001408448.1:c.662-837A>C
  • NM_001408450.1:c.662-837A>C
  • NM_001408451.1:c.653-837A>C
  • NM_001408452.1:c.647-837A>C
  • NM_001408453.1:c.647-837A>C
  • NM_001408454.1:c.647-837A>C
  • NM_001408455.1:c.647-837A>C
  • NM_001408456.1:c.647-837A>C
  • NM_001408457.1:c.647-837A>C
  • NM_001408458.1:c.647-837A>C
  • NM_001408459.1:c.647-837A>C
  • NM_001408460.1:c.647-837A>C
  • NM_001408461.1:c.647-837A>C
  • NM_001408462.1:c.644-837A>C
  • NM_001408463.1:c.644-837A>C
  • NM_001408464.1:c.644-837A>C
  • NM_001408465.1:c.644-837A>C
  • NM_001408466.1:c.647-837A>C
  • NM_001408467.1:c.647-837A>C
  • NM_001408468.1:c.644-837A>C
  • NM_001408469.1:c.647-837A>C
  • NM_001408470.1:c.644-837A>C
  • NM_001408472.1:c.788-837A>C
  • NM_001408473.1:c.785-837A>C
  • NM_001408474.1:c.587-837A>C
  • NM_001408475.1:c.584-837A>C
  • NM_001408476.1:c.587-837A>C
  • NM_001408478.1:c.578-837A>C
  • NM_001408479.1:c.578-837A>C
  • NM_001408480.1:c.578-837A>C
  • NM_001408481.1:c.578-837A>C
  • NM_001408482.1:c.578-837A>C
  • NM_001408483.1:c.578-837A>C
  • NM_001408484.1:c.578-837A>C
  • NM_001408485.1:c.578-837A>C
  • NM_001408489.1:c.578-837A>C
  • NM_001408490.1:c.575-837A>C
  • NM_001408491.1:c.575-837A>C
  • NM_001408492.1:c.578-837A>C
  • NM_001408493.1:c.575-837A>C
  • NM_001408494.1:c.548-837A>C
  • NM_001408495.1:c.545-837A>C
  • NM_001408496.1:c.524-837A>C
  • NM_001408497.1:c.524-837A>C
  • NM_001408498.1:c.524-837A>C
  • NM_001408499.1:c.524-837A>C
  • NM_001408500.1:c.524-837A>C
  • NM_001408501.1:c.524-837A>C
  • NM_001408502.1:c.455-837A>C
  • NM_001408503.1:c.521-837A>C
  • NM_001408504.1:c.521-837A>C
  • NM_001408505.1:c.521-837A>C
  • NM_001408506.1:c.461-837A>C
  • NM_001408507.1:c.461-837A>C
  • NM_001408508.1:c.452-837A>C
  • NM_001408509.1:c.452-837A>C
  • NM_001408510.1:c.407-837A>C
  • NM_001408511.1:c.404-837A>C
  • NM_001408512.1:c.284-837A>C
  • NM_001408513.1:c.578-837A>C
  • NM_001408514.1:c.578-837A>C
  • NM_007294.4:c.3662A>CMANE SELECT
  • NM_007297.4:c.3521A>C
  • NM_007298.4:c.788-837A>C
  • NM_007299.4:c.788-837A>C
  • NM_007300.4:c.3662A>C
  • NP_001394500.1:p.Glu1150Ala
  • NP_001394510.1:p.Glu1221Ala
  • NP_001394511.1:p.Glu1221Ala
  • NP_001394512.1:p.Glu1221Ala
  • NP_001394514.1:p.Glu1221Ala
  • NP_001394516.1:p.Glu1220Ala
  • NP_001394519.1:p.Glu1220Ala
  • NP_001394520.1:p.Glu1220Ala
  • NP_001394522.1:p.Glu1221Ala
  • NP_001394523.1:p.Glu1221Ala
  • NP_001394525.1:p.Glu1221Ala
  • NP_001394526.1:p.Glu1221Ala
  • NP_001394527.1:p.Glu1221Ala
  • NP_001394531.1:p.Glu1221Ala
  • NP_001394532.1:p.Glu1221Ala
  • NP_001394534.1:p.Glu1221Ala
  • NP_001394539.1:p.Glu1220Ala
  • NP_001394540.1:p.Glu1220Ala
  • NP_001394541.1:p.Glu1220Ala
  • NP_001394542.1:p.Glu1220Ala
  • NP_001394543.1:p.Glu1220Ala
  • NP_001394544.1:p.Glu1220Ala
  • NP_001394545.1:p.Glu1221Ala
  • NP_001394546.1:p.Glu1221Ala
  • NP_001394547.1:p.Glu1221Ala
  • NP_001394548.1:p.Glu1221Ala
  • NP_001394549.1:p.Glu1221Ala
  • NP_001394550.1:p.Glu1221Ala
  • NP_001394551.1:p.Glu1221Ala
  • NP_001394552.1:p.Glu1221Ala
  • NP_001394553.1:p.Glu1221Ala
  • NP_001394554.1:p.Glu1221Ala
  • NP_001394555.1:p.Glu1221Ala
  • NP_001394556.1:p.Glu1220Ala
  • NP_001394557.1:p.Glu1220Ala
  • NP_001394558.1:p.Glu1220Ala
  • NP_001394559.1:p.Glu1220Ala
  • NP_001394560.1:p.Glu1220Ala
  • NP_001394561.1:p.Glu1220Ala
  • NP_001394562.1:p.Glu1220Ala
  • NP_001394563.1:p.Glu1220Ala
  • NP_001394564.1:p.Glu1220Ala
  • NP_001394565.1:p.Glu1220Ala
  • NP_001394566.1:p.Glu1220Ala
  • NP_001394567.1:p.Glu1220Ala
  • NP_001394568.1:p.Glu1221Ala
  • NP_001394569.1:p.Glu1221Ala
  • NP_001394570.1:p.Glu1221Ala
  • NP_001394571.1:p.Glu1221Ala
  • NP_001394573.1:p.Glu1220Ala
  • NP_001394574.1:p.Glu1220Ala
  • NP_001394575.1:p.Glu1218Ala
  • NP_001394576.1:p.Glu1218Ala
  • NP_001394577.1:p.Glu1180Ala
  • NP_001394578.1:p.Glu1179Ala
  • NP_001394581.1:p.Glu1221Ala
  • NP_001394582.1:p.Glu1195Ala
  • NP_001394583.1:p.Glu1195Ala
  • NP_001394584.1:p.Glu1195Ala
  • NP_001394585.1:p.Glu1195Ala
  • NP_001394586.1:p.Glu1195Ala
  • NP_001394587.1:p.Glu1195Ala
  • NP_001394588.1:p.Glu1194Ala
  • NP_001394589.1:p.Glu1194Ala
  • NP_001394590.1:p.Glu1194Ala
  • NP_001394591.1:p.Glu1194Ala
  • NP_001394592.1:p.Glu1195Ala
  • NP_001394593.1:p.Glu1180Ala
  • NP_001394594.1:p.Glu1180Ala
  • NP_001394595.1:p.Glu1180Ala
  • NP_001394596.1:p.Glu1180Ala
  • NP_001394597.1:p.Glu1180Ala
  • NP_001394598.1:p.Glu1180Ala
  • NP_001394599.1:p.Glu1179Ala
  • NP_001394600.1:p.Glu1179Ala
  • NP_001394601.1:p.Glu1179Ala
  • NP_001394602.1:p.Glu1179Ala
  • NP_001394603.1:p.Glu1180Ala
  • NP_001394604.1:p.Glu1180Ala
  • NP_001394605.1:p.Glu1180Ala
  • NP_001394606.1:p.Glu1180Ala
  • NP_001394607.1:p.Glu1180Ala
  • NP_001394608.1:p.Glu1180Ala
  • NP_001394609.1:p.Glu1180Ala
  • NP_001394610.1:p.Glu1180Ala
  • NP_001394611.1:p.Glu1180Ala
  • NP_001394612.1:p.Glu1180Ala
  • NP_001394613.1:p.Glu1221Ala
  • NP_001394614.1:p.Glu1179Ala
  • NP_001394615.1:p.Glu1179Ala
  • NP_001394616.1:p.Glu1179Ala
  • NP_001394617.1:p.Glu1179Ala
  • NP_001394618.1:p.Glu1179Ala
  • NP_001394619.1:p.Glu1179Ala
  • NP_001394620.1:p.Glu1179Ala
  • NP_001394621.1:p.Glu1174Ala
  • NP_001394623.1:p.Glu1174Ala
  • NP_001394624.1:p.Glu1174Ala
  • NP_001394625.1:p.Glu1174Ala
  • NP_001394626.1:p.Glu1174Ala
  • NP_001394627.1:p.Glu1174Ala
  • NP_001394653.1:p.Glu1174Ala
  • NP_001394654.1:p.Glu1174Ala
  • NP_001394655.1:p.Glu1174Ala
  • NP_001394656.1:p.Glu1174Ala
  • NP_001394657.1:p.Glu1174Ala
  • NP_001394658.1:p.Glu1174Ala
  • NP_001394659.1:p.Glu1174Ala
  • NP_001394660.1:p.Glu1174Ala
  • NP_001394661.1:p.Glu1174Ala
  • NP_001394662.1:p.Glu1174Ala
  • NP_001394663.1:p.Glu1174Ala
  • NP_001394664.1:p.Glu1174Ala
  • NP_001394665.1:p.Glu1174Ala
  • NP_001394666.1:p.Glu1174Ala
  • NP_001394667.1:p.Glu1174Ala
  • NP_001394668.1:p.Glu1174Ala
  • NP_001394669.1:p.Glu1173Ala
  • NP_001394670.1:p.Glu1173Ala
  • NP_001394671.1:p.Glu1173Ala
  • NP_001394672.1:p.Glu1173Ala
  • NP_001394673.1:p.Glu1173Ala
  • NP_001394674.1:p.Glu1173Ala
  • NP_001394675.1:p.Glu1173Ala
  • NP_001394676.1:p.Glu1173Ala
  • NP_001394677.1:p.Glu1173Ala
  • NP_001394678.1:p.Glu1173Ala
  • NP_001394679.1:p.Glu1174Ala
  • NP_001394680.1:p.Glu1174Ala
  • NP_001394681.1:p.Glu1174Ala
  • NP_001394767.1:p.Glu1173Ala
  • NP_001394768.1:p.Glu1173Ala
  • NP_001394770.1:p.Glu1173Ala
  • NP_001394771.1:p.Glu1173Ala
  • NP_001394772.1:p.Glu1173Ala
  • NP_001394773.1:p.Glu1173Ala
  • NP_001394774.1:p.Glu1173Ala
  • NP_001394775.1:p.Glu1173Ala
  • NP_001394776.1:p.Glu1173Ala
  • NP_001394777.1:p.Glu1173Ala
  • NP_001394778.1:p.Glu1173Ala
  • NP_001394779.1:p.Glu1174Ala
  • NP_001394780.1:p.Glu1174Ala
  • NP_001394781.1:p.Glu1174Ala
  • NP_001394782.1:p.Glu1150Ala
  • NP_001394783.1:p.Glu1221Ala
  • NP_001394787.1:p.Glu1221Ala
  • NP_001394788.1:p.Glu1221Ala
  • NP_001394789.1:p.Glu1220Ala
  • NP_001394790.1:p.Glu1220Ala
  • NP_001394791.1:p.Glu1154Ala
  • NP_001394792.1:p.Glu1180Ala
  • NP_001394803.1:p.Glu1153Ala
  • NP_001394804.1:p.Glu1153Ala
  • NP_001394808.1:p.Glu1151Ala
  • NP_001394810.1:p.Glu1151Ala
  • NP_001394811.1:p.Glu1151Ala
  • NP_001394813.1:p.Glu1151Ala
  • NP_001394814.1:p.Glu1151Ala
  • NP_001394815.1:p.Glu1151Ala
  • NP_001394816.1:p.Glu1151Ala
  • NP_001394818.1:p.Glu1151Ala
  • NP_001394823.1:p.Glu1150Ala
  • NP_001394824.1:p.Glu1150Ala
  • NP_001394825.1:p.Glu1150Ala
  • NP_001394826.1:p.Glu1150Ala
  • NP_001394827.1:p.Glu1150Ala
  • NP_001394828.1:p.Glu1150Ala
  • NP_001394829.1:p.Glu1151Ala
  • NP_001394831.1:p.Glu1151Ala
  • NP_001394833.1:p.Glu1151Ala
  • NP_001394835.1:p.Glu1151Ala
  • NP_001394836.1:p.Glu1151Ala
  • NP_001394837.1:p.Glu1151Ala
  • NP_001394838.1:p.Glu1151Ala
  • NP_001394839.1:p.Glu1151Ala
  • NP_001394844.1:p.Glu1150Ala
  • NP_001394845.1:p.Glu1150Ala
  • NP_001394846.1:p.Glu1150Ala
  • NP_001394847.1:p.Glu1150Ala
  • NP_001394848.1:p.Glu1180Ala
  • NP_001394849.1:p.Glu1133Ala
  • NP_001394850.1:p.Glu1133Ala
  • NP_001394851.1:p.Glu1133Ala
  • NP_001394852.1:p.Glu1133Ala
  • NP_001394853.1:p.Glu1133Ala
  • NP_001394854.1:p.Glu1133Ala
  • NP_001394855.1:p.Glu1133Ala
  • NP_001394856.1:p.Glu1133Ala
  • NP_001394857.1:p.Glu1133Ala
  • NP_001394858.1:p.Glu1133Ala
  • NP_001394859.1:p.Glu1132Ala
  • NP_001394860.1:p.Glu1132Ala
  • NP_001394861.1:p.Glu1132Ala
  • NP_001394862.1:p.Glu1133Ala
  • NP_001394863.1:p.Glu1132Ala
  • NP_001394864.1:p.Glu1133Ala
  • NP_001394865.1:p.Glu1132Ala
  • NP_001394866.1:p.Glu1180Ala
  • NP_001394867.1:p.Glu1180Ala
  • NP_001394868.1:p.Glu1180Ala
  • NP_001394869.1:p.Glu1179Ala
  • NP_001394870.1:p.Glu1179Ala
  • NP_001394871.1:p.Glu1174Ala
  • NP_001394872.1:p.Glu1173Ala
  • NP_001394873.1:p.Glu1174Ala
  • NP_001394874.1:p.Glu1174Ala
  • NP_001394875.1:p.Glu1110Ala
  • NP_001394876.1:p.Glu1110Ala
  • NP_001394877.1:p.Glu1110Ala
  • NP_001394878.1:p.Glu1110Ala
  • NP_001394879.1:p.Glu1110Ala
  • NP_001394880.1:p.Glu1110Ala
  • NP_001394881.1:p.Glu1110Ala
  • NP_001394882.1:p.Glu1110Ala
  • NP_001394883.1:p.Glu1109Ala
  • NP_001394884.1:p.Glu1109Ala
  • NP_001394885.1:p.Glu1109Ala
  • NP_001394886.1:p.Glu1110Ala
  • NP_001394887.1:p.Glu1109Ala
  • NP_001394888.1:p.Glu1094Ala
  • NP_001394889.1:p.Glu1094Ala
  • NP_001394891.1:p.Glu1093Ala
  • NP_001394892.1:p.Glu1094Ala
  • NP_001394893.1:p.Glu1173Ala
  • NP_001394894.1:p.Glu1053Ala
  • NP_001394895.1:p.Glu925Ala
  • NP_001394896.1:p.Glu925Ala
  • NP_001394897.1:p.Glu353Ala
  • NP_001394898.1:p.Glu353Ala
  • NP_009225.1:p.Glu1221Ala
  • NP_009225.1:p.Glu1221Ala
  • NP_009228.2:p.Glu1174Ala
  • NP_009231.2:p.Glu1221Ala
  • LRG_292t1:c.3662A>C
  • LRG_292:g.126115A>C
  • LRG_292p1:p.Glu1221Ala
  • NC_000017.10:g.41243886T>G
  • NM_007294.3:c.3662A>C
  • NR_027676.1:n.3798A>C
  • U14680.1:n.3781A>C
  • p.E1221A
Protein change:
E1053A
Links:
dbSNP: rs273900713
NCBI 1000 Genomes Browser:
rs273900713
Molecular consequence:
  • NM_001407970.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-846A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-837A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3449A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3653A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3653A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3584A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3584A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3584A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3584A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3584A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3584A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3581A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3581A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3581A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3581A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3584A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3449A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3659A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3461A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3458A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3458A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3449A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3449A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3449A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3449A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3449A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3449A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3452A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3449A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3449A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3449A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3449A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3539A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3536A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3329A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3329A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3329A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3329A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3329A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3329A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3329A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3329A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3326A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3326A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3326A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3329A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3326A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3281A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3281A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3278A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3281A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3158A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2774A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2774A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1058A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1058A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3662A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

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
SCV000144829Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Sep 18, 2010) 		germlineclinical testing

SCV004817770All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Jun 8, 2023) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot provided108544not providedclinical testing
Chinesegermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.

Lai KN, Ho WK, Kang IN, Kang PC, Phuah SY, Mariapun S, Yip CH, Mohd Taib NA, Teo SH.

BMC Cancer. 2017 Feb 22;17(1):149. doi: 10.1186/s12885-017-3099-6.

PubMed [citation]
PMID:
28222693
PMCID:
PMC5320733

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.

Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.

PubMed [citation]
PMID:
30287823
PMCID:
PMC6172276
See all PubMed Citations (6)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144829.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
2Chinese1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004817770.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (6)

Description

This missense variant replaces glutamic acid with alanine at codon 1221 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two breast cancer case-control studies in which it was detected in one affected individual and a total of four unaffected individuals (PMID: 28222693, 30287823), and it was also reported in a breast cancer case-control meta-analysis in 9/60466 cases and 6/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_005148). In addition, this variant has been observed in one unaffected control individual in a pancreatic and a prostate cancer case-control study (PMID: 31214711, 32980694). This variant has been identified in 7/251296 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024