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NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) AND not specified

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Jan 3, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000173843.17

Allele description [Variation Report for NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)]

NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
Other names:
p.T790A:ACT>GCT
HGVS:
  • NC_000017.11:g.43093163T>C
  • NG_005905.2:g.124821A>G
  • NM_001407571.1:c.2155A>G
  • NM_001407581.1:c.2368A>G
  • NM_001407582.1:c.2368A>G
  • NM_001407583.1:c.2368A>G
  • NM_001407585.1:c.2368A>G
  • NM_001407587.1:c.2365A>G
  • NM_001407590.1:c.2365A>G
  • NM_001407591.1:c.2365A>G
  • NM_001407593.1:c.2368A>G
  • NM_001407594.1:c.2368A>G
  • NM_001407596.1:c.2368A>G
  • NM_001407597.1:c.2368A>G
  • NM_001407598.1:c.2368A>G
  • NM_001407602.1:c.2368A>G
  • NM_001407603.1:c.2368A>G
  • NM_001407605.1:c.2368A>G
  • NM_001407610.1:c.2365A>G
  • NM_001407611.1:c.2365A>G
  • NM_001407612.1:c.2365A>G
  • NM_001407613.1:c.2365A>G
  • NM_001407614.1:c.2365A>G
  • NM_001407615.1:c.2365A>G
  • NM_001407616.1:c.2368A>G
  • NM_001407617.1:c.2368A>G
  • NM_001407618.1:c.2368A>G
  • NM_001407619.1:c.2368A>G
  • NM_001407620.1:c.2368A>G
  • NM_001407621.1:c.2368A>G
  • NM_001407622.1:c.2368A>G
  • NM_001407623.1:c.2368A>G
  • NM_001407624.1:c.2368A>G
  • NM_001407625.1:c.2368A>G
  • NM_001407626.1:c.2368A>G
  • NM_001407627.1:c.2365A>G
  • NM_001407628.1:c.2365A>G
  • NM_001407629.1:c.2365A>G
  • NM_001407630.1:c.2365A>G
  • NM_001407631.1:c.2365A>G
  • NM_001407632.1:c.2365A>G
  • NM_001407633.1:c.2365A>G
  • NM_001407634.1:c.2365A>G
  • NM_001407635.1:c.2365A>G
  • NM_001407636.1:c.2365A>G
  • NM_001407637.1:c.2365A>G
  • NM_001407638.1:c.2365A>G
  • NM_001407639.1:c.2368A>G
  • NM_001407640.1:c.2368A>G
  • NM_001407641.1:c.2368A>G
  • NM_001407642.1:c.2368A>G
  • NM_001407644.1:c.2365A>G
  • NM_001407645.1:c.2365A>G
  • NM_001407646.1:c.2359A>G
  • NM_001407647.1:c.2359A>G
  • NM_001407648.1:c.2245A>G
  • NM_001407649.1:c.2242A>G
  • NM_001407652.1:c.2368A>G
  • NM_001407653.1:c.2290A>G
  • NM_001407654.1:c.2290A>G
  • NM_001407655.1:c.2290A>G
  • NM_001407656.1:c.2290A>G
  • NM_001407657.1:c.2290A>G
  • NM_001407658.1:c.2290A>G
  • NM_001407659.1:c.2287A>G
  • NM_001407660.1:c.2287A>G
  • NM_001407661.1:c.2287A>G
  • NM_001407662.1:c.2287A>G
  • NM_001407663.1:c.2290A>G
  • NM_001407664.1:c.2245A>G
  • NM_001407665.1:c.2245A>G
  • NM_001407666.1:c.2245A>G
  • NM_001407667.1:c.2245A>G
  • NM_001407668.1:c.2245A>G
  • NM_001407669.1:c.2245A>G
  • NM_001407670.1:c.2242A>G
  • NM_001407671.1:c.2242A>G
  • NM_001407672.1:c.2242A>G
  • NM_001407673.1:c.2242A>G
  • NM_001407674.1:c.2245A>G
  • NM_001407675.1:c.2245A>G
  • NM_001407676.1:c.2245A>G
  • NM_001407677.1:c.2245A>G
  • NM_001407678.1:c.2245A>G
  • NM_001407679.1:c.2245A>G
  • NM_001407680.1:c.2245A>G
  • NM_001407681.1:c.2245A>G
  • NM_001407682.1:c.2245A>G
  • NM_001407683.1:c.2245A>G
  • NM_001407684.1:c.2368A>G
  • NM_001407685.1:c.2242A>G
  • NM_001407686.1:c.2242A>G
  • NM_001407687.1:c.2242A>G
  • NM_001407688.1:c.2242A>G
  • NM_001407689.1:c.2242A>G
  • NM_001407690.1:c.2242A>G
  • NM_001407691.1:c.2242A>G
  • NM_001407692.1:c.2227A>G
  • NM_001407694.1:c.2227A>G
  • NM_001407695.1:c.2227A>G
  • NM_001407696.1:c.2227A>G
  • NM_001407697.1:c.2227A>G
  • NM_001407698.1:c.2227A>G
  • NM_001407724.1:c.2227A>G
  • NM_001407725.1:c.2227A>G
  • NM_001407726.1:c.2227A>G
  • NM_001407727.1:c.2227A>G
  • NM_001407728.1:c.2227A>G
  • NM_001407729.1:c.2227A>G
  • NM_001407730.1:c.2227A>G
  • NM_001407731.1:c.2227A>G
  • NM_001407732.1:c.2227A>G
  • NM_001407733.1:c.2227A>G
  • NM_001407734.1:c.2227A>G
  • NM_001407735.1:c.2227A>G
  • NM_001407736.1:c.2227A>G
  • NM_001407737.1:c.2227A>G
  • NM_001407738.1:c.2227A>G
  • NM_001407739.1:c.2227A>G
  • NM_001407740.1:c.2224A>G
  • NM_001407741.1:c.2224A>G
  • NM_001407742.1:c.2224A>G
  • NM_001407743.1:c.2224A>G
  • NM_001407744.1:c.2224A>G
  • NM_001407745.1:c.2224A>G
  • NM_001407746.1:c.2224A>G
  • NM_001407747.1:c.2224A>G
  • NM_001407748.1:c.2224A>G
  • NM_001407749.1:c.2224A>G
  • NM_001407750.1:c.2227A>G
  • NM_001407751.1:c.2227A>G
  • NM_001407752.1:c.2227A>G
  • NM_001407838.1:c.2224A>G
  • NM_001407839.1:c.2224A>G
  • NM_001407841.1:c.2224A>G
  • NM_001407842.1:c.2224A>G
  • NM_001407843.1:c.2224A>G
  • NM_001407844.1:c.2224A>G
  • NM_001407845.1:c.2224A>G
  • NM_001407846.1:c.2224A>G
  • NM_001407847.1:c.2224A>G
  • NM_001407848.1:c.2224A>G
  • NM_001407849.1:c.2224A>G
  • NM_001407850.1:c.2227A>G
  • NM_001407851.1:c.2227A>G
  • NM_001407852.1:c.2227A>G
  • NM_001407853.1:c.2155A>G
  • NM_001407854.1:c.2368A>G
  • NM_001407858.1:c.2368A>G
  • NM_001407859.1:c.2368A>G
  • NM_001407860.1:c.2365A>G
  • NM_001407861.1:c.2365A>G
  • NM_001407862.1:c.2167A>G
  • NM_001407863.1:c.2245A>G
  • NM_001407874.1:c.2164A>G
  • NM_001407875.1:c.2164A>G
  • NM_001407879.1:c.2158A>G
  • NM_001407881.1:c.2158A>G
  • NM_001407882.1:c.2158A>G
  • NM_001407884.1:c.2158A>G
  • NM_001407885.1:c.2158A>G
  • NM_001407886.1:c.2158A>G
  • NM_001407887.1:c.2158A>G
  • NM_001407889.1:c.2158A>G
  • NM_001407894.1:c.2155A>G
  • NM_001407895.1:c.2155A>G
  • NM_001407896.1:c.2155A>G
  • NM_001407897.1:c.2155A>G
  • NM_001407898.1:c.2155A>G
  • NM_001407899.1:c.2155A>G
  • NM_001407900.1:c.2158A>G
  • NM_001407902.1:c.2158A>G
  • NM_001407904.1:c.2158A>G
  • NM_001407906.1:c.2158A>G
  • NM_001407907.1:c.2158A>G
  • NM_001407908.1:c.2158A>G
  • NM_001407909.1:c.2158A>G
  • NM_001407910.1:c.2158A>G
  • NM_001407915.1:c.2155A>G
  • NM_001407916.1:c.2155A>G
  • NM_001407917.1:c.2155A>G
  • NM_001407918.1:c.2155A>G
  • NM_001407919.1:c.2245A>G
  • NM_001407920.1:c.2104A>G
  • NM_001407921.1:c.2104A>G
  • NM_001407922.1:c.2104A>G
  • NM_001407923.1:c.2104A>G
  • NM_001407924.1:c.2104A>G
  • NM_001407925.1:c.2104A>G
  • NM_001407926.1:c.2104A>G
  • NM_001407927.1:c.2104A>G
  • NM_001407928.1:c.2104A>G
  • NM_001407929.1:c.2104A>G
  • NM_001407930.1:c.2101A>G
  • NM_001407931.1:c.2101A>G
  • NM_001407932.1:c.2101A>G
  • NM_001407933.1:c.2104A>G
  • NM_001407934.1:c.2101A>G
  • NM_001407935.1:c.2104A>G
  • NM_001407936.1:c.2101A>G
  • NM_001407937.1:c.2245A>G
  • NM_001407938.1:c.2245A>G
  • NM_001407939.1:c.2245A>G
  • NM_001407940.1:c.2242A>G
  • NM_001407941.1:c.2242A>G
  • NM_001407942.1:c.2227A>G
  • NM_001407943.1:c.2224A>G
  • NM_001407944.1:c.2227A>G
  • NM_001407945.1:c.2227A>G
  • NM_001407946.1:c.2035A>G
  • NM_001407947.1:c.2035A>G
  • NM_001407948.1:c.2035A>G
  • NM_001407949.1:c.2035A>G
  • NM_001407950.1:c.2035A>G
  • NM_001407951.1:c.2035A>G
  • NM_001407952.1:c.2035A>G
  • NM_001407953.1:c.2035A>G
  • NM_001407954.1:c.2032A>G
  • NM_001407955.1:c.2032A>G
  • NM_001407956.1:c.2032A>G
  • NM_001407957.1:c.2035A>G
  • NM_001407958.1:c.2032A>G
  • NM_001407959.1:c.1987A>G
  • NM_001407960.1:c.1987A>G
  • NM_001407962.1:c.1984A>G
  • NM_001407963.1:c.1987A>G
  • NM_001407964.1:c.2224A>G
  • NM_001407965.1:c.1864A>G
  • NM_001407966.1:c.1480A>G
  • NM_001407967.1:c.1480A>G
  • NM_001407968.1:c.788-1024A>G
  • NM_001407969.1:c.788-1024A>G
  • NM_001407970.1:c.787+1581A>G
  • NM_001407971.1:c.787+1581A>G
  • NM_001407972.1:c.784+1581A>G
  • NM_001407973.1:c.787+1581A>G
  • NM_001407974.1:c.787+1581A>G
  • NM_001407975.1:c.787+1581A>G
  • NM_001407976.1:c.787+1581A>G
  • NM_001407977.1:c.787+1581A>G
  • NM_001407978.1:c.787+1581A>G
  • NM_001407979.1:c.787+1581A>G
  • NM_001407980.1:c.787+1581A>G
  • NM_001407981.1:c.787+1581A>G
  • NM_001407982.1:c.787+1581A>G
  • NM_001407983.1:c.787+1581A>G
  • NM_001407984.1:c.784+1581A>G
  • NM_001407985.1:c.784+1581A>G
  • NM_001407986.1:c.784+1581A>G
  • NM_001407990.1:c.787+1581A>G
  • NM_001407991.1:c.784+1581A>G
  • NM_001407992.1:c.784+1581A>G
  • NM_001407993.1:c.787+1581A>G
  • NM_001408392.1:c.784+1581A>G
  • NM_001408396.1:c.784+1581A>G
  • NM_001408397.1:c.784+1581A>G
  • NM_001408398.1:c.784+1581A>G
  • NM_001408399.1:c.784+1581A>G
  • NM_001408400.1:c.784+1581A>G
  • NM_001408401.1:c.784+1581A>G
  • NM_001408402.1:c.784+1581A>G
  • NM_001408403.1:c.787+1581A>G
  • NM_001408404.1:c.787+1581A>G
  • NM_001408406.1:c.790+1578A>G
  • NM_001408407.1:c.784+1581A>G
  • NM_001408408.1:c.778+1581A>G
  • NM_001408409.1:c.709+1581A>G
  • NM_001408410.1:c.646+1581A>G
  • NM_001408411.1:c.709+1581A>G
  • NM_001408412.1:c.709+1581A>G
  • NM_001408413.1:c.706+1581A>G
  • NM_001408414.1:c.709+1581A>G
  • NM_001408415.1:c.709+1581A>G
  • NM_001408416.1:c.706+1581A>G
  • NM_001408418.1:c.671-2131A>G
  • NM_001408419.1:c.671-2131A>G
  • NM_001408420.1:c.671-2131A>G
  • NM_001408421.1:c.668-2131A>G
  • NM_001408422.1:c.671-2131A>G
  • NM_001408423.1:c.671-2131A>G
  • NM_001408424.1:c.668-2131A>G
  • NM_001408425.1:c.664+1581A>G
  • NM_001408426.1:c.664+1581A>G
  • NM_001408427.1:c.664+1581A>G
  • NM_001408428.1:c.664+1581A>G
  • NM_001408429.1:c.664+1581A>G
  • NM_001408430.1:c.664+1581A>G
  • NM_001408431.1:c.668-2131A>G
  • NM_001408432.1:c.661+1581A>G
  • NM_001408433.1:c.661+1581A>G
  • NM_001408434.1:c.661+1581A>G
  • NM_001408435.1:c.661+1581A>G
  • NM_001408436.1:c.664+1581A>G
  • NM_001408437.1:c.664+1581A>G
  • NM_001408438.1:c.664+1581A>G
  • NM_001408439.1:c.664+1581A>G
  • NM_001408440.1:c.664+1581A>G
  • NM_001408441.1:c.664+1581A>G
  • NM_001408442.1:c.664+1581A>G
  • NM_001408443.1:c.664+1581A>G
  • NM_001408444.1:c.664+1581A>G
  • NM_001408445.1:c.661+1581A>G
  • NM_001408446.1:c.661+1581A>G
  • NM_001408447.1:c.661+1581A>G
  • NM_001408448.1:c.661+1581A>G
  • NM_001408450.1:c.661+1581A>G
  • NM_001408451.1:c.652+1581A>G
  • NM_001408452.1:c.646+1581A>G
  • NM_001408453.1:c.646+1581A>G
  • NM_001408454.1:c.646+1581A>G
  • NM_001408455.1:c.646+1581A>G
  • NM_001408456.1:c.646+1581A>G
  • NM_001408457.1:c.646+1581A>G
  • NM_001408458.1:c.646+1581A>G
  • NM_001408459.1:c.646+1581A>G
  • NM_001408460.1:c.646+1581A>G
  • NM_001408461.1:c.646+1581A>G
  • NM_001408462.1:c.643+1581A>G
  • NM_001408463.1:c.643+1581A>G
  • NM_001408464.1:c.643+1581A>G
  • NM_001408465.1:c.643+1581A>G
  • NM_001408466.1:c.646+1581A>G
  • NM_001408467.1:c.646+1581A>G
  • NM_001408468.1:c.643+1581A>G
  • NM_001408469.1:c.646+1581A>G
  • NM_001408470.1:c.643+1581A>G
  • NM_001408472.1:c.787+1581A>G
  • NM_001408473.1:c.784+1581A>G
  • NM_001408474.1:c.586+1581A>G
  • NM_001408475.1:c.583+1581A>G
  • NM_001408476.1:c.586+1581A>G
  • NM_001408478.1:c.577+1581A>G
  • NM_001408479.1:c.577+1581A>G
  • NM_001408480.1:c.577+1581A>G
  • NM_001408481.1:c.577+1581A>G
  • NM_001408482.1:c.577+1581A>G
  • NM_001408483.1:c.577+1581A>G
  • NM_001408484.1:c.577+1581A>G
  • NM_001408485.1:c.577+1581A>G
  • NM_001408489.1:c.577+1581A>G
  • NM_001408490.1:c.574+1581A>G
  • NM_001408491.1:c.574+1581A>G
  • NM_001408492.1:c.577+1581A>G
  • NM_001408493.1:c.574+1581A>G
  • NM_001408494.1:c.548-2131A>G
  • NM_001408495.1:c.545-2131A>G
  • NM_001408496.1:c.523+1581A>G
  • NM_001408497.1:c.523+1581A>G
  • NM_001408498.1:c.523+1581A>G
  • NM_001408499.1:c.523+1581A>G
  • NM_001408500.1:c.523+1581A>G
  • NM_001408501.1:c.523+1581A>G
  • NM_001408502.1:c.454+1581A>G
  • NM_001408503.1:c.520+1581A>G
  • NM_001408504.1:c.520+1581A>G
  • NM_001408505.1:c.520+1581A>G
  • NM_001408506.1:c.461-2131A>G
  • NM_001408507.1:c.461-2131A>G
  • NM_001408508.1:c.451+1581A>G
  • NM_001408509.1:c.451+1581A>G
  • NM_001408510.1:c.406+1581A>G
  • NM_001408511.1:c.404-2131A>G
  • NM_001408512.1:c.283+1581A>G
  • NM_001408513.1:c.577+1581A>G
  • NM_001408514.1:c.577+1581A>G
  • NM_007294.4:c.2368A>GMANE SELECT
  • NM_007297.4:c.2227A>G
  • NM_007298.4:c.787+1581A>G
  • NM_007299.4:c.787+1581A>G
  • NM_007300.4:c.2368A>G
  • NP_001394500.1:p.Thr719Ala
  • NP_001394510.1:p.Thr790Ala
  • NP_001394511.1:p.Thr790Ala
  • NP_001394512.1:p.Thr790Ala
  • NP_001394514.1:p.Thr790Ala
  • NP_001394516.1:p.Thr789Ala
  • NP_001394519.1:p.Thr789Ala
  • NP_001394520.1:p.Thr789Ala
  • NP_001394522.1:p.Thr790Ala
  • NP_001394523.1:p.Thr790Ala
  • NP_001394525.1:p.Thr790Ala
  • NP_001394526.1:p.Thr790Ala
  • NP_001394527.1:p.Thr790Ala
  • NP_001394531.1:p.Thr790Ala
  • NP_001394532.1:p.Thr790Ala
  • NP_001394534.1:p.Thr790Ala
  • NP_001394539.1:p.Thr789Ala
  • NP_001394540.1:p.Thr789Ala
  • NP_001394541.1:p.Thr789Ala
  • NP_001394542.1:p.Thr789Ala
  • NP_001394543.1:p.Thr789Ala
  • NP_001394544.1:p.Thr789Ala
  • NP_001394545.1:p.Thr790Ala
  • NP_001394546.1:p.Thr790Ala
  • NP_001394547.1:p.Thr790Ala
  • NP_001394548.1:p.Thr790Ala
  • NP_001394549.1:p.Thr790Ala
  • NP_001394550.1:p.Thr790Ala
  • NP_001394551.1:p.Thr790Ala
  • NP_001394552.1:p.Thr790Ala
  • NP_001394553.1:p.Thr790Ala
  • NP_001394554.1:p.Thr790Ala
  • NP_001394555.1:p.Thr790Ala
  • NP_001394556.1:p.Thr789Ala
  • NP_001394557.1:p.Thr789Ala
  • NP_001394558.1:p.Thr789Ala
  • NP_001394559.1:p.Thr789Ala
  • NP_001394560.1:p.Thr789Ala
  • NP_001394561.1:p.Thr789Ala
  • NP_001394562.1:p.Thr789Ala
  • NP_001394563.1:p.Thr789Ala
  • NP_001394564.1:p.Thr789Ala
  • NP_001394565.1:p.Thr789Ala
  • NP_001394566.1:p.Thr789Ala
  • NP_001394567.1:p.Thr789Ala
  • NP_001394568.1:p.Thr790Ala
  • NP_001394569.1:p.Thr790Ala
  • NP_001394570.1:p.Thr790Ala
  • NP_001394571.1:p.Thr790Ala
  • NP_001394573.1:p.Thr789Ala
  • NP_001394574.1:p.Thr789Ala
  • NP_001394575.1:p.Thr787Ala
  • NP_001394576.1:p.Thr787Ala
  • NP_001394577.1:p.Thr749Ala
  • NP_001394578.1:p.Thr748Ala
  • NP_001394581.1:p.Thr790Ala
  • NP_001394582.1:p.Thr764Ala
  • NP_001394583.1:p.Thr764Ala
  • NP_001394584.1:p.Thr764Ala
  • NP_001394585.1:p.Thr764Ala
  • NP_001394586.1:p.Thr764Ala
  • NP_001394587.1:p.Thr764Ala
  • NP_001394588.1:p.Thr763Ala
  • NP_001394589.1:p.Thr763Ala
  • NP_001394590.1:p.Thr763Ala
  • NP_001394591.1:p.Thr763Ala
  • NP_001394592.1:p.Thr764Ala
  • NP_001394593.1:p.Thr749Ala
  • NP_001394594.1:p.Thr749Ala
  • NP_001394595.1:p.Thr749Ala
  • NP_001394596.1:p.Thr749Ala
  • NP_001394597.1:p.Thr749Ala
  • NP_001394598.1:p.Thr749Ala
  • NP_001394599.1:p.Thr748Ala
  • NP_001394600.1:p.Thr748Ala
  • NP_001394601.1:p.Thr748Ala
  • NP_001394602.1:p.Thr748Ala
  • NP_001394603.1:p.Thr749Ala
  • NP_001394604.1:p.Thr749Ala
  • NP_001394605.1:p.Thr749Ala
  • NP_001394606.1:p.Thr749Ala
  • NP_001394607.1:p.Thr749Ala
  • NP_001394608.1:p.Thr749Ala
  • NP_001394609.1:p.Thr749Ala
  • NP_001394610.1:p.Thr749Ala
  • NP_001394611.1:p.Thr749Ala
  • NP_001394612.1:p.Thr749Ala
  • NP_001394613.1:p.Thr790Ala
  • NP_001394614.1:p.Thr748Ala
  • NP_001394615.1:p.Thr748Ala
  • NP_001394616.1:p.Thr748Ala
  • NP_001394617.1:p.Thr748Ala
  • NP_001394618.1:p.Thr748Ala
  • NP_001394619.1:p.Thr748Ala
  • NP_001394620.1:p.Thr748Ala
  • NP_001394621.1:p.Thr743Ala
  • NP_001394623.1:p.Thr743Ala
  • NP_001394624.1:p.Thr743Ala
  • NP_001394625.1:p.Thr743Ala
  • NP_001394626.1:p.Thr743Ala
  • NP_001394627.1:p.Thr743Ala
  • NP_001394653.1:p.Thr743Ala
  • NP_001394654.1:p.Thr743Ala
  • NP_001394655.1:p.Thr743Ala
  • NP_001394656.1:p.Thr743Ala
  • NP_001394657.1:p.Thr743Ala
  • NP_001394658.1:p.Thr743Ala
  • NP_001394659.1:p.Thr743Ala
  • NP_001394660.1:p.Thr743Ala
  • NP_001394661.1:p.Thr743Ala
  • NP_001394662.1:p.Thr743Ala
  • NP_001394663.1:p.Thr743Ala
  • NP_001394664.1:p.Thr743Ala
  • NP_001394665.1:p.Thr743Ala
  • NP_001394666.1:p.Thr743Ala
  • NP_001394667.1:p.Thr743Ala
  • NP_001394668.1:p.Thr743Ala
  • NP_001394669.1:p.Thr742Ala
  • NP_001394670.1:p.Thr742Ala
  • NP_001394671.1:p.Thr742Ala
  • NP_001394672.1:p.Thr742Ala
  • NP_001394673.1:p.Thr742Ala
  • NP_001394674.1:p.Thr742Ala
  • NP_001394675.1:p.Thr742Ala
  • NP_001394676.1:p.Thr742Ala
  • NP_001394677.1:p.Thr742Ala
  • NP_001394678.1:p.Thr742Ala
  • NP_001394679.1:p.Thr743Ala
  • NP_001394680.1:p.Thr743Ala
  • NP_001394681.1:p.Thr743Ala
  • NP_001394767.1:p.Thr742Ala
  • NP_001394768.1:p.Thr742Ala
  • NP_001394770.1:p.Thr742Ala
  • NP_001394771.1:p.Thr742Ala
  • NP_001394772.1:p.Thr742Ala
  • NP_001394773.1:p.Thr742Ala
  • NP_001394774.1:p.Thr742Ala
  • NP_001394775.1:p.Thr742Ala
  • NP_001394776.1:p.Thr742Ala
  • NP_001394777.1:p.Thr742Ala
  • NP_001394778.1:p.Thr742Ala
  • NP_001394779.1:p.Thr743Ala
  • NP_001394780.1:p.Thr743Ala
  • NP_001394781.1:p.Thr743Ala
  • NP_001394782.1:p.Thr719Ala
  • NP_001394783.1:p.Thr790Ala
  • NP_001394787.1:p.Thr790Ala
  • NP_001394788.1:p.Thr790Ala
  • NP_001394789.1:p.Thr789Ala
  • NP_001394790.1:p.Thr789Ala
  • NP_001394791.1:p.Thr723Ala
  • NP_001394792.1:p.Thr749Ala
  • NP_001394803.1:p.Thr722Ala
  • NP_001394804.1:p.Thr722Ala
  • NP_001394808.1:p.Thr720Ala
  • NP_001394810.1:p.Thr720Ala
  • NP_001394811.1:p.Thr720Ala
  • NP_001394813.1:p.Thr720Ala
  • NP_001394814.1:p.Thr720Ala
  • NP_001394815.1:p.Thr720Ala
  • NP_001394816.1:p.Thr720Ala
  • NP_001394818.1:p.Thr720Ala
  • NP_001394823.1:p.Thr719Ala
  • NP_001394824.1:p.Thr719Ala
  • NP_001394825.1:p.Thr719Ala
  • NP_001394826.1:p.Thr719Ala
  • NP_001394827.1:p.Thr719Ala
  • NP_001394828.1:p.Thr719Ala
  • NP_001394829.1:p.Thr720Ala
  • NP_001394831.1:p.Thr720Ala
  • NP_001394833.1:p.Thr720Ala
  • NP_001394835.1:p.Thr720Ala
  • NP_001394836.1:p.Thr720Ala
  • NP_001394837.1:p.Thr720Ala
  • NP_001394838.1:p.Thr720Ala
  • NP_001394839.1:p.Thr720Ala
  • NP_001394844.1:p.Thr719Ala
  • NP_001394845.1:p.Thr719Ala
  • NP_001394846.1:p.Thr719Ala
  • NP_001394847.1:p.Thr719Ala
  • NP_001394848.1:p.Thr749Ala
  • NP_001394849.1:p.Thr702Ala
  • NP_001394850.1:p.Thr702Ala
  • NP_001394851.1:p.Thr702Ala
  • NP_001394852.1:p.Thr702Ala
  • NP_001394853.1:p.Thr702Ala
  • NP_001394854.1:p.Thr702Ala
  • NP_001394855.1:p.Thr702Ala
  • NP_001394856.1:p.Thr702Ala
  • NP_001394857.1:p.Thr702Ala
  • NP_001394858.1:p.Thr702Ala
  • NP_001394859.1:p.Thr701Ala
  • NP_001394860.1:p.Thr701Ala
  • NP_001394861.1:p.Thr701Ala
  • NP_001394862.1:p.Thr702Ala
  • NP_001394863.1:p.Thr701Ala
  • NP_001394864.1:p.Thr702Ala
  • NP_001394865.1:p.Thr701Ala
  • NP_001394866.1:p.Thr749Ala
  • NP_001394867.1:p.Thr749Ala
  • NP_001394868.1:p.Thr749Ala
  • NP_001394869.1:p.Thr748Ala
  • NP_001394870.1:p.Thr748Ala
  • NP_001394871.1:p.Thr743Ala
  • NP_001394872.1:p.Thr742Ala
  • NP_001394873.1:p.Thr743Ala
  • NP_001394874.1:p.Thr743Ala
  • NP_001394875.1:p.Thr679Ala
  • NP_001394876.1:p.Thr679Ala
  • NP_001394877.1:p.Thr679Ala
  • NP_001394878.1:p.Thr679Ala
  • NP_001394879.1:p.Thr679Ala
  • NP_001394880.1:p.Thr679Ala
  • NP_001394881.1:p.Thr679Ala
  • NP_001394882.1:p.Thr679Ala
  • NP_001394883.1:p.Thr678Ala
  • NP_001394884.1:p.Thr678Ala
  • NP_001394885.1:p.Thr678Ala
  • NP_001394886.1:p.Thr679Ala
  • NP_001394887.1:p.Thr678Ala
  • NP_001394888.1:p.Thr663Ala
  • NP_001394889.1:p.Thr663Ala
  • NP_001394891.1:p.Thr662Ala
  • NP_001394892.1:p.Thr663Ala
  • NP_001394893.1:p.Thr742Ala
  • NP_001394894.1:p.Thr622Ala
  • NP_001394895.1:p.Thr494Ala
  • NP_001394896.1:p.Thr494Ala
  • NP_009225.1:p.Thr790Ala
  • NP_009225.1:p.Thr790Ala
  • NP_009228.2:p.Thr743Ala
  • NP_009231.2:p.Thr790Ala
  • LRG_292t1:c.2368A>G
  • LRG_292:g.124821A>G
  • LRG_292p1:p.Thr790Ala
  • NC_000017.10:g.41245180T>C
  • NM_007294.3:c.2368A>G
  • NR_027676.1:n.2504A>G
  • U14680.1:n.2487A>G
  • p.T790A
Nucleotide change:
2487A>G
Protein change:
T494A
Links:
dbSNP: rs41286298
NCBI 1000 Genomes Browser:
rs41286298
Molecular consequence:
  • NM_001407968.1:c.788-1024A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-1024A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1578A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.2359A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.2359A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2287A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2287A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2287A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2287A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2032A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2032A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2032A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2032A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1987A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1987A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1984A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1987A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1864A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1480A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1480A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000916717Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Benign
(Nov 13, 2018)
germlineclinical testing

PubMed (11)
[See all records that cite these PMIDs]

Citation Link,

SCV002070433Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Jan 3, 2022)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women.

Haffty BG, Silber A, Matloff E, Chung J, Lannin D.

J Med Genet. 2006 Feb;43(2):133-7. Epub 2005 Jun 27.

PubMed [citation]
PMID:
15983021
PMCID:
PMC2564628

Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.

Lefevre JH, Bonilla C, Colas C, Winney B, Johnstone E, Tonks S, Day T, Hutnik K, Boumertit A, Soubrier F, Midgley R, Kerr D, Parc Y, Bodmer WF.

J Hum Genet. 2012 Nov 26;57(11):709-716. doi: 10.1038/jhg.2012.99. Epub 2012 Aug 9.

PubMed [citation]
PMID:
22875147
PMCID:
PMC5140019
See all PubMed Citations (12)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000916717.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (11)

Description

Variant summary: BRCA1 c.2368A>G (p.Thr790Ala) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 9.9e-05 in 282008 control chromosomes, predominantly within the African subpopulation at a frequency of 0.001 in the gnomAD database. This frequency is about the same as expected for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer (0.001 vs 0.001), suggesting a benign role for the variant. c.2368A>G has been reported in the literature in several individuals of African and/or African American ancestry affected with Hereditary Breast and Ovarian Cancer. Due to the similarity in the ethnicity between control chromosomes and published reports, these occurrences do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic BRCA1 variants have been reported in the UMD database (c.5324T>G (p.Met1775Arg) in one individual and c.1961dup (p.Tyr655valfsX18) in another), in addition, several co-occurrences with pathogenic BRCA2 variants have also been reported (in the BIC database: c.5946_5946delT (p.Ser1982fsX22) in one individual, and c.8948_8953+5delATTCAGGTAAG in two other individuals; and in LCA internal samples: c.2808delA (p.Lys936fsX24) in one individual and c.5351dupA (p.Asn1784fsX3) in another individual). These multiple co-occurrences strongly support a benign role for the variant. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as Benign (1x) / Likely benign (2x). Based on the evidence outlined above, the variant was re-classified as benign.

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

From Genetic Services Laboratory, University of Chicago, SCV002070433.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 19, 2025