U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:
Mar 1, 2024
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000589797.23

Allele description [Variation Report for NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)]

NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)

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.3055A>G (p.Ile1019Val)
HGVS:
  • NC_000017.11:g.43092476T>C
  • NG_005905.2:g.125508A>G
  • NM_001407571.1:c.2842A>G
  • NM_001407581.1:c.3055A>G
  • NM_001407582.1:c.3055A>G
  • NM_001407583.1:c.3055A>G
  • NM_001407585.1:c.3055A>G
  • NM_001407587.1:c.3052A>G
  • NM_001407590.1:c.3052A>G
  • NM_001407591.1:c.3052A>G
  • NM_001407593.1:c.3055A>G
  • NM_001407594.1:c.3055A>G
  • NM_001407596.1:c.3055A>G
  • NM_001407597.1:c.3055A>G
  • NM_001407598.1:c.3055A>G
  • NM_001407602.1:c.3055A>G
  • NM_001407603.1:c.3055A>G
  • NM_001407605.1:c.3055A>G
  • NM_001407610.1:c.3052A>G
  • NM_001407611.1:c.3052A>G
  • NM_001407612.1:c.3052A>G
  • NM_001407613.1:c.3052A>G
  • NM_001407614.1:c.3052A>G
  • NM_001407615.1:c.3052A>G
  • NM_001407616.1:c.3055A>G
  • NM_001407617.1:c.3055A>G
  • NM_001407618.1:c.3055A>G
  • NM_001407619.1:c.3055A>G
  • NM_001407620.1:c.3055A>G
  • NM_001407621.1:c.3055A>G
  • NM_001407622.1:c.3055A>G
  • NM_001407623.1:c.3055A>G
  • NM_001407624.1:c.3055A>G
  • NM_001407625.1:c.3055A>G
  • NM_001407626.1:c.3055A>G
  • NM_001407627.1:c.3052A>G
  • NM_001407628.1:c.3052A>G
  • NM_001407629.1:c.3052A>G
  • NM_001407630.1:c.3052A>G
  • NM_001407631.1:c.3052A>G
  • NM_001407632.1:c.3052A>G
  • NM_001407633.1:c.3052A>G
  • NM_001407634.1:c.3052A>G
  • NM_001407635.1:c.3052A>G
  • NM_001407636.1:c.3052A>G
  • NM_001407637.1:c.3052A>G
  • NM_001407638.1:c.3052A>G
  • NM_001407639.1:c.3055A>G
  • NM_001407640.1:c.3055A>G
  • NM_001407641.1:c.3055A>G
  • NM_001407642.1:c.3055A>G
  • NM_001407644.1:c.3052A>G
  • NM_001407645.1:c.3052A>G
  • NM_001407646.1:c.3046A>G
  • NM_001407647.1:c.3046A>G
  • NM_001407648.1:c.2932A>G
  • NM_001407649.1:c.2929A>G
  • NM_001407652.1:c.3055A>G
  • NM_001407653.1:c.2977A>G
  • NM_001407654.1:c.2977A>G
  • NM_001407655.1:c.2977A>G
  • NM_001407656.1:c.2977A>G
  • NM_001407657.1:c.2977A>G
  • NM_001407658.1:c.2977A>G
  • NM_001407659.1:c.2974A>G
  • NM_001407660.1:c.2974A>G
  • NM_001407661.1:c.2974A>G
  • NM_001407662.1:c.2974A>G
  • NM_001407663.1:c.2977A>G
  • NM_001407664.1:c.2932A>G
  • NM_001407665.1:c.2932A>G
  • NM_001407666.1:c.2932A>G
  • NM_001407667.1:c.2932A>G
  • NM_001407668.1:c.2932A>G
  • NM_001407669.1:c.2932A>G
  • NM_001407670.1:c.2929A>G
  • NM_001407671.1:c.2929A>G
  • NM_001407672.1:c.2929A>G
  • NM_001407673.1:c.2929A>G
  • NM_001407674.1:c.2932A>G
  • NM_001407675.1:c.2932A>G
  • NM_001407676.1:c.2932A>G
  • NM_001407677.1:c.2932A>G
  • NM_001407678.1:c.2932A>G
  • NM_001407679.1:c.2932A>G
  • NM_001407680.1:c.2932A>G
  • NM_001407681.1:c.2932A>G
  • NM_001407682.1:c.2932A>G
  • NM_001407683.1:c.2932A>G
  • NM_001407684.1:c.3055A>G
  • NM_001407685.1:c.2929A>G
  • NM_001407686.1:c.2929A>G
  • NM_001407687.1:c.2929A>G
  • NM_001407688.1:c.2929A>G
  • NM_001407689.1:c.2929A>G
  • NM_001407690.1:c.2929A>G
  • NM_001407691.1:c.2929A>G
  • NM_001407692.1:c.2914A>G
  • NM_001407694.1:c.2914A>G
  • NM_001407695.1:c.2914A>G
  • NM_001407696.1:c.2914A>G
  • NM_001407697.1:c.2914A>G
  • NM_001407698.1:c.2914A>G
  • NM_001407724.1:c.2914A>G
  • NM_001407725.1:c.2914A>G
  • NM_001407726.1:c.2914A>G
  • NM_001407727.1:c.2914A>G
  • NM_001407728.1:c.2914A>G
  • NM_001407729.1:c.2914A>G
  • NM_001407730.1:c.2914A>G
  • NM_001407731.1:c.2914A>G
  • NM_001407732.1:c.2914A>G
  • NM_001407733.1:c.2914A>G
  • NM_001407734.1:c.2914A>G
  • NM_001407735.1:c.2914A>G
  • NM_001407736.1:c.2914A>G
  • NM_001407737.1:c.2914A>G
  • NM_001407738.1:c.2914A>G
  • NM_001407739.1:c.2914A>G
  • NM_001407740.1:c.2911A>G
  • NM_001407741.1:c.2911A>G
  • NM_001407742.1:c.2911A>G
  • NM_001407743.1:c.2911A>G
  • NM_001407744.1:c.2911A>G
  • NM_001407745.1:c.2911A>G
  • NM_001407746.1:c.2911A>G
  • NM_001407747.1:c.2911A>G
  • NM_001407748.1:c.2911A>G
  • NM_001407749.1:c.2911A>G
  • NM_001407750.1:c.2914A>G
  • NM_001407751.1:c.2914A>G
  • NM_001407752.1:c.2914A>G
  • NM_001407838.1:c.2911A>G
  • NM_001407839.1:c.2911A>G
  • NM_001407841.1:c.2911A>G
  • NM_001407842.1:c.2911A>G
  • NM_001407843.1:c.2911A>G
  • NM_001407844.1:c.2911A>G
  • NM_001407845.1:c.2911A>G
  • NM_001407846.1:c.2911A>G
  • NM_001407847.1:c.2911A>G
  • NM_001407848.1:c.2911A>G
  • NM_001407849.1:c.2911A>G
  • NM_001407850.1:c.2914A>G
  • NM_001407851.1:c.2914A>G
  • NM_001407852.1:c.2914A>G
  • NM_001407853.1:c.2842A>G
  • NM_001407854.1:c.3055A>G
  • NM_001407858.1:c.3055A>G
  • NM_001407859.1:c.3055A>G
  • NM_001407860.1:c.3052A>G
  • NM_001407861.1:c.3052A>G
  • NM_001407862.1:c.2854A>G
  • NM_001407863.1:c.2932A>G
  • NM_001407874.1:c.2851A>G
  • NM_001407875.1:c.2851A>G
  • NM_001407879.1:c.2845A>G
  • NM_001407881.1:c.2845A>G
  • NM_001407882.1:c.2845A>G
  • NM_001407884.1:c.2845A>G
  • NM_001407885.1:c.2845A>G
  • NM_001407886.1:c.2845A>G
  • NM_001407887.1:c.2845A>G
  • NM_001407889.1:c.2845A>G
  • NM_001407894.1:c.2842A>G
  • NM_001407895.1:c.2842A>G
  • NM_001407896.1:c.2842A>G
  • NM_001407897.1:c.2842A>G
  • NM_001407898.1:c.2842A>G
  • NM_001407899.1:c.2842A>G
  • NM_001407900.1:c.2845A>G
  • NM_001407902.1:c.2845A>G
  • NM_001407904.1:c.2845A>G
  • NM_001407906.1:c.2845A>G
  • NM_001407907.1:c.2845A>G
  • NM_001407908.1:c.2845A>G
  • NM_001407909.1:c.2845A>G
  • NM_001407910.1:c.2845A>G
  • NM_001407915.1:c.2842A>G
  • NM_001407916.1:c.2842A>G
  • NM_001407917.1:c.2842A>G
  • NM_001407918.1:c.2842A>G
  • NM_001407919.1:c.2932A>G
  • NM_001407920.1:c.2791A>G
  • NM_001407921.1:c.2791A>G
  • NM_001407922.1:c.2791A>G
  • NM_001407923.1:c.2791A>G
  • NM_001407924.1:c.2791A>G
  • NM_001407925.1:c.2791A>G
  • NM_001407926.1:c.2791A>G
  • NM_001407927.1:c.2791A>G
  • NM_001407928.1:c.2791A>G
  • NM_001407929.1:c.2791A>G
  • NM_001407930.1:c.2788A>G
  • NM_001407931.1:c.2788A>G
  • NM_001407932.1:c.2788A>G
  • NM_001407933.1:c.2791A>G
  • NM_001407934.1:c.2788A>G
  • NM_001407935.1:c.2791A>G
  • NM_001407936.1:c.2788A>G
  • NM_001407937.1:c.2932A>G
  • NM_001407938.1:c.2932A>G
  • NM_001407939.1:c.2932A>G
  • NM_001407940.1:c.2929A>G
  • NM_001407941.1:c.2929A>G
  • NM_001407942.1:c.2914A>G
  • NM_001407943.1:c.2911A>G
  • NM_001407944.1:c.2914A>G
  • NM_001407945.1:c.2914A>G
  • NM_001407946.1:c.2722A>G
  • NM_001407947.1:c.2722A>G
  • NM_001407948.1:c.2722A>G
  • NM_001407949.1:c.2722A>G
  • NM_001407950.1:c.2722A>G
  • NM_001407951.1:c.2722A>G
  • NM_001407952.1:c.2722A>G
  • NM_001407953.1:c.2722A>G
  • NM_001407954.1:c.2719A>G
  • NM_001407955.1:c.2719A>G
  • NM_001407956.1:c.2719A>G
  • NM_001407957.1:c.2722A>G
  • NM_001407958.1:c.2719A>G
  • NM_001407959.1:c.2674A>G
  • NM_001407960.1:c.2674A>G
  • NM_001407962.1:c.2671A>G
  • NM_001407963.1:c.2674A>G
  • NM_001407964.1:c.2911A>G
  • NM_001407965.1:c.2551A>G
  • NM_001407966.1:c.2167A>G
  • NM_001407967.1:c.2167A>G
  • NM_001407968.1:c.788-337A>G
  • NM_001407969.1:c.788-337A>G
  • NM_001407970.1:c.788-1444A>G
  • NM_001407971.1:c.788-1444A>G
  • NM_001407972.1:c.785-1444A>G
  • NM_001407973.1:c.788-1444A>G
  • NM_001407974.1:c.788-1444A>G
  • NM_001407975.1:c.788-1444A>G
  • NM_001407976.1:c.788-1444A>G
  • NM_001407977.1:c.788-1444A>G
  • NM_001407978.1:c.788-1444A>G
  • NM_001407979.1:c.788-1444A>G
  • NM_001407980.1:c.788-1444A>G
  • NM_001407981.1:c.788-1444A>G
  • NM_001407982.1:c.788-1444A>G
  • NM_001407983.1:c.788-1444A>G
  • NM_001407984.1:c.785-1444A>G
  • NM_001407985.1:c.785-1444A>G
  • NM_001407986.1:c.785-1444A>G
  • NM_001407990.1:c.788-1444A>G
  • NM_001407991.1:c.785-1444A>G
  • NM_001407992.1:c.785-1444A>G
  • NM_001407993.1:c.788-1444A>G
  • NM_001408392.1:c.785-1444A>G
  • NM_001408396.1:c.785-1444A>G
  • NM_001408397.1:c.785-1444A>G
  • NM_001408398.1:c.785-1444A>G
  • NM_001408399.1:c.785-1444A>G
  • NM_001408400.1:c.785-1444A>G
  • NM_001408401.1:c.785-1444A>G
  • NM_001408402.1:c.785-1444A>G
  • NM_001408403.1:c.788-1444A>G
  • NM_001408404.1:c.788-1444A>G
  • NM_001408406.1:c.791-1453A>G
  • NM_001408407.1:c.785-1444A>G
  • NM_001408408.1:c.779-1444A>G
  • NM_001408409.1:c.710-1444A>G
  • NM_001408410.1:c.647-1444A>G
  • NM_001408411.1:c.710-1444A>G
  • NM_001408412.1:c.710-1444A>G
  • NM_001408413.1:c.707-1444A>G
  • NM_001408414.1:c.710-1444A>G
  • NM_001408415.1:c.710-1444A>G
  • NM_001408416.1:c.707-1444A>G
  • NM_001408418.1:c.671-1444A>G
  • NM_001408419.1:c.671-1444A>G
  • NM_001408420.1:c.671-1444A>G
  • NM_001408421.1:c.668-1444A>G
  • NM_001408422.1:c.671-1444A>G
  • NM_001408423.1:c.671-1444A>G
  • NM_001408424.1:c.668-1444A>G
  • NM_001408425.1:c.665-1444A>G
  • NM_001408426.1:c.665-1444A>G
  • NM_001408427.1:c.665-1444A>G
  • NM_001408428.1:c.665-1444A>G
  • NM_001408429.1:c.665-1444A>G
  • NM_001408430.1:c.665-1444A>G
  • NM_001408431.1:c.668-1444A>G
  • NM_001408432.1:c.662-1444A>G
  • NM_001408433.1:c.662-1444A>G
  • NM_001408434.1:c.662-1444A>G
  • NM_001408435.1:c.662-1444A>G
  • NM_001408436.1:c.665-1444A>G
  • NM_001408437.1:c.665-1444A>G
  • NM_001408438.1:c.665-1444A>G
  • NM_001408439.1:c.665-1444A>G
  • NM_001408440.1:c.665-1444A>G
  • NM_001408441.1:c.665-1444A>G
  • NM_001408442.1:c.665-1444A>G
  • NM_001408443.1:c.665-1444A>G
  • NM_001408444.1:c.665-1444A>G
  • NM_001408445.1:c.662-1444A>G
  • NM_001408446.1:c.662-1444A>G
  • NM_001408447.1:c.662-1444A>G
  • NM_001408448.1:c.662-1444A>G
  • NM_001408450.1:c.662-1444A>G
  • NM_001408451.1:c.653-1444A>G
  • NM_001408452.1:c.647-1444A>G
  • NM_001408453.1:c.647-1444A>G
  • NM_001408454.1:c.647-1444A>G
  • NM_001408455.1:c.647-1444A>G
  • NM_001408456.1:c.647-1444A>G
  • NM_001408457.1:c.647-1444A>G
  • NM_001408458.1:c.647-1444A>G
  • NM_001408459.1:c.647-1444A>G
  • NM_001408460.1:c.647-1444A>G
  • NM_001408461.1:c.647-1444A>G
  • NM_001408462.1:c.644-1444A>G
  • NM_001408463.1:c.644-1444A>G
  • NM_001408464.1:c.644-1444A>G
  • NM_001408465.1:c.644-1444A>G
  • NM_001408466.1:c.647-1444A>G
  • NM_001408467.1:c.647-1444A>G
  • NM_001408468.1:c.644-1444A>G
  • NM_001408469.1:c.647-1444A>G
  • NM_001408470.1:c.644-1444A>G
  • NM_001408472.1:c.788-1444A>G
  • NM_001408473.1:c.785-1444A>G
  • NM_001408474.1:c.587-1444A>G
  • NM_001408475.1:c.584-1444A>G
  • NM_001408476.1:c.587-1444A>G
  • NM_001408478.1:c.578-1444A>G
  • NM_001408479.1:c.578-1444A>G
  • NM_001408480.1:c.578-1444A>G
  • NM_001408481.1:c.578-1444A>G
  • NM_001408482.1:c.578-1444A>G
  • NM_001408483.1:c.578-1444A>G
  • NM_001408484.1:c.578-1444A>G
  • NM_001408485.1:c.578-1444A>G
  • NM_001408489.1:c.578-1444A>G
  • NM_001408490.1:c.575-1444A>G
  • NM_001408491.1:c.575-1444A>G
  • NM_001408492.1:c.578-1444A>G
  • NM_001408493.1:c.575-1444A>G
  • NM_001408494.1:c.548-1444A>G
  • NM_001408495.1:c.545-1444A>G
  • NM_001408496.1:c.524-1444A>G
  • NM_001408497.1:c.524-1444A>G
  • NM_001408498.1:c.524-1444A>G
  • NM_001408499.1:c.524-1444A>G
  • NM_001408500.1:c.524-1444A>G
  • NM_001408501.1:c.524-1444A>G
  • NM_001408502.1:c.455-1444A>G
  • NM_001408503.1:c.521-1444A>G
  • NM_001408504.1:c.521-1444A>G
  • NM_001408505.1:c.521-1444A>G
  • NM_001408506.1:c.461-1444A>G
  • NM_001408507.1:c.461-1444A>G
  • NM_001408508.1:c.452-1444A>G
  • NM_001408509.1:c.452-1444A>G
  • NM_001408510.1:c.407-1444A>G
  • NM_001408511.1:c.404-1444A>G
  • NM_001408512.1:c.284-1444A>G
  • NM_001408513.1:c.578-1444A>G
  • NM_001408514.1:c.578-1444A>G
  • NM_007294.4:c.3055A>GMANE SELECT
  • NM_007297.4:c.2914A>G
  • NM_007298.4:c.788-1444A>G
  • NM_007299.4:c.788-1444A>G
  • NM_007300.4:c.3055A>G
  • NP_001394500.1:p.Ile948Val
  • NP_001394510.1:p.Ile1019Val
  • NP_001394511.1:p.Ile1019Val
  • NP_001394512.1:p.Ile1019Val
  • NP_001394514.1:p.Ile1019Val
  • NP_001394516.1:p.Ile1018Val
  • NP_001394519.1:p.Ile1018Val
  • NP_001394520.1:p.Ile1018Val
  • NP_001394522.1:p.Ile1019Val
  • NP_001394523.1:p.Ile1019Val
  • NP_001394525.1:p.Ile1019Val
  • NP_001394526.1:p.Ile1019Val
  • NP_001394527.1:p.Ile1019Val
  • NP_001394531.1:p.Ile1019Val
  • NP_001394532.1:p.Ile1019Val
  • NP_001394534.1:p.Ile1019Val
  • NP_001394539.1:p.Ile1018Val
  • NP_001394540.1:p.Ile1018Val
  • NP_001394541.1:p.Ile1018Val
  • NP_001394542.1:p.Ile1018Val
  • NP_001394543.1:p.Ile1018Val
  • NP_001394544.1:p.Ile1018Val
  • NP_001394545.1:p.Ile1019Val
  • NP_001394546.1:p.Ile1019Val
  • NP_001394547.1:p.Ile1019Val
  • NP_001394548.1:p.Ile1019Val
  • NP_001394549.1:p.Ile1019Val
  • NP_001394550.1:p.Ile1019Val
  • NP_001394551.1:p.Ile1019Val
  • NP_001394552.1:p.Ile1019Val
  • NP_001394553.1:p.Ile1019Val
  • NP_001394554.1:p.Ile1019Val
  • NP_001394555.1:p.Ile1019Val
  • NP_001394556.1:p.Ile1018Val
  • NP_001394557.1:p.Ile1018Val
  • NP_001394558.1:p.Ile1018Val
  • NP_001394559.1:p.Ile1018Val
  • NP_001394560.1:p.Ile1018Val
  • NP_001394561.1:p.Ile1018Val
  • NP_001394562.1:p.Ile1018Val
  • NP_001394563.1:p.Ile1018Val
  • NP_001394564.1:p.Ile1018Val
  • NP_001394565.1:p.Ile1018Val
  • NP_001394566.1:p.Ile1018Val
  • NP_001394567.1:p.Ile1018Val
  • NP_001394568.1:p.Ile1019Val
  • NP_001394569.1:p.Ile1019Val
  • NP_001394570.1:p.Ile1019Val
  • NP_001394571.1:p.Ile1019Val
  • NP_001394573.1:p.Ile1018Val
  • NP_001394574.1:p.Ile1018Val
  • NP_001394575.1:p.Ile1016Val
  • NP_001394576.1:p.Ile1016Val
  • NP_001394577.1:p.Ile978Val
  • NP_001394578.1:p.Ile977Val
  • NP_001394581.1:p.Ile1019Val
  • NP_001394582.1:p.Ile993Val
  • NP_001394583.1:p.Ile993Val
  • NP_001394584.1:p.Ile993Val
  • NP_001394585.1:p.Ile993Val
  • NP_001394586.1:p.Ile993Val
  • NP_001394587.1:p.Ile993Val
  • NP_001394588.1:p.Ile992Val
  • NP_001394589.1:p.Ile992Val
  • NP_001394590.1:p.Ile992Val
  • NP_001394591.1:p.Ile992Val
  • NP_001394592.1:p.Ile993Val
  • NP_001394593.1:p.Ile978Val
  • NP_001394594.1:p.Ile978Val
  • NP_001394595.1:p.Ile978Val
  • NP_001394596.1:p.Ile978Val
  • NP_001394597.1:p.Ile978Val
  • NP_001394598.1:p.Ile978Val
  • NP_001394599.1:p.Ile977Val
  • NP_001394600.1:p.Ile977Val
  • NP_001394601.1:p.Ile977Val
  • NP_001394602.1:p.Ile977Val
  • NP_001394603.1:p.Ile978Val
  • NP_001394604.1:p.Ile978Val
  • NP_001394605.1:p.Ile978Val
  • NP_001394606.1:p.Ile978Val
  • NP_001394607.1:p.Ile978Val
  • NP_001394608.1:p.Ile978Val
  • NP_001394609.1:p.Ile978Val
  • NP_001394610.1:p.Ile978Val
  • NP_001394611.1:p.Ile978Val
  • NP_001394612.1:p.Ile978Val
  • NP_001394613.1:p.Ile1019Val
  • NP_001394614.1:p.Ile977Val
  • NP_001394615.1:p.Ile977Val
  • NP_001394616.1:p.Ile977Val
  • NP_001394617.1:p.Ile977Val
  • NP_001394618.1:p.Ile977Val
  • NP_001394619.1:p.Ile977Val
  • NP_001394620.1:p.Ile977Val
  • NP_001394621.1:p.Ile972Val
  • NP_001394623.1:p.Ile972Val
  • NP_001394624.1:p.Ile972Val
  • NP_001394625.1:p.Ile972Val
  • NP_001394626.1:p.Ile972Val
  • NP_001394627.1:p.Ile972Val
  • NP_001394653.1:p.Ile972Val
  • NP_001394654.1:p.Ile972Val
  • NP_001394655.1:p.Ile972Val
  • NP_001394656.1:p.Ile972Val
  • NP_001394657.1:p.Ile972Val
  • NP_001394658.1:p.Ile972Val
  • NP_001394659.1:p.Ile972Val
  • NP_001394660.1:p.Ile972Val
  • NP_001394661.1:p.Ile972Val
  • NP_001394662.1:p.Ile972Val
  • NP_001394663.1:p.Ile972Val
  • NP_001394664.1:p.Ile972Val
  • NP_001394665.1:p.Ile972Val
  • NP_001394666.1:p.Ile972Val
  • NP_001394667.1:p.Ile972Val
  • NP_001394668.1:p.Ile972Val
  • NP_001394669.1:p.Ile971Val
  • NP_001394670.1:p.Ile971Val
  • NP_001394671.1:p.Ile971Val
  • NP_001394672.1:p.Ile971Val
  • NP_001394673.1:p.Ile971Val
  • NP_001394674.1:p.Ile971Val
  • NP_001394675.1:p.Ile971Val
  • NP_001394676.1:p.Ile971Val
  • NP_001394677.1:p.Ile971Val
  • NP_001394678.1:p.Ile971Val
  • NP_001394679.1:p.Ile972Val
  • NP_001394680.1:p.Ile972Val
  • NP_001394681.1:p.Ile972Val
  • NP_001394767.1:p.Ile971Val
  • NP_001394768.1:p.Ile971Val
  • NP_001394770.1:p.Ile971Val
  • NP_001394771.1:p.Ile971Val
  • NP_001394772.1:p.Ile971Val
  • NP_001394773.1:p.Ile971Val
  • NP_001394774.1:p.Ile971Val
  • NP_001394775.1:p.Ile971Val
  • NP_001394776.1:p.Ile971Val
  • NP_001394777.1:p.Ile971Val
  • NP_001394778.1:p.Ile971Val
  • NP_001394779.1:p.Ile972Val
  • NP_001394780.1:p.Ile972Val
  • NP_001394781.1:p.Ile972Val
  • NP_001394782.1:p.Ile948Val
  • NP_001394783.1:p.Ile1019Val
  • NP_001394787.1:p.Ile1019Val
  • NP_001394788.1:p.Ile1019Val
  • NP_001394789.1:p.Ile1018Val
  • NP_001394790.1:p.Ile1018Val
  • NP_001394791.1:p.Ile952Val
  • NP_001394792.1:p.Ile978Val
  • NP_001394803.1:p.Ile951Val
  • NP_001394804.1:p.Ile951Val
  • NP_001394808.1:p.Ile949Val
  • NP_001394810.1:p.Ile949Val
  • NP_001394811.1:p.Ile949Val
  • NP_001394813.1:p.Ile949Val
  • NP_001394814.1:p.Ile949Val
  • NP_001394815.1:p.Ile949Val
  • NP_001394816.1:p.Ile949Val
  • NP_001394818.1:p.Ile949Val
  • NP_001394823.1:p.Ile948Val
  • NP_001394824.1:p.Ile948Val
  • NP_001394825.1:p.Ile948Val
  • NP_001394826.1:p.Ile948Val
  • NP_001394827.1:p.Ile948Val
  • NP_001394828.1:p.Ile948Val
  • NP_001394829.1:p.Ile949Val
  • NP_001394831.1:p.Ile949Val
  • NP_001394833.1:p.Ile949Val
  • NP_001394835.1:p.Ile949Val
  • NP_001394836.1:p.Ile949Val
  • NP_001394837.1:p.Ile949Val
  • NP_001394838.1:p.Ile949Val
  • NP_001394839.1:p.Ile949Val
  • NP_001394844.1:p.Ile948Val
  • NP_001394845.1:p.Ile948Val
  • NP_001394846.1:p.Ile948Val
  • NP_001394847.1:p.Ile948Val
  • NP_001394848.1:p.Ile978Val
  • NP_001394849.1:p.Ile931Val
  • NP_001394850.1:p.Ile931Val
  • NP_001394851.1:p.Ile931Val
  • NP_001394852.1:p.Ile931Val
  • NP_001394853.1:p.Ile931Val
  • NP_001394854.1:p.Ile931Val
  • NP_001394855.1:p.Ile931Val
  • NP_001394856.1:p.Ile931Val
  • NP_001394857.1:p.Ile931Val
  • NP_001394858.1:p.Ile931Val
  • NP_001394859.1:p.Ile930Val
  • NP_001394860.1:p.Ile930Val
  • NP_001394861.1:p.Ile930Val
  • NP_001394862.1:p.Ile931Val
  • NP_001394863.1:p.Ile930Val
  • NP_001394864.1:p.Ile931Val
  • NP_001394865.1:p.Ile930Val
  • NP_001394866.1:p.Ile978Val
  • NP_001394867.1:p.Ile978Val
  • NP_001394868.1:p.Ile978Val
  • NP_001394869.1:p.Ile977Val
  • NP_001394870.1:p.Ile977Val
  • NP_001394871.1:p.Ile972Val
  • NP_001394872.1:p.Ile971Val
  • NP_001394873.1:p.Ile972Val
  • NP_001394874.1:p.Ile972Val
  • NP_001394875.1:p.Ile908Val
  • NP_001394876.1:p.Ile908Val
  • NP_001394877.1:p.Ile908Val
  • NP_001394878.1:p.Ile908Val
  • NP_001394879.1:p.Ile908Val
  • NP_001394880.1:p.Ile908Val
  • NP_001394881.1:p.Ile908Val
  • NP_001394882.1:p.Ile908Val
  • NP_001394883.1:p.Ile907Val
  • NP_001394884.1:p.Ile907Val
  • NP_001394885.1:p.Ile907Val
  • NP_001394886.1:p.Ile908Val
  • NP_001394887.1:p.Ile907Val
  • NP_001394888.1:p.Ile892Val
  • NP_001394889.1:p.Ile892Val
  • NP_001394891.1:p.Ile891Val
  • NP_001394892.1:p.Ile892Val
  • NP_001394893.1:p.Ile971Val
  • NP_001394894.1:p.Ile851Val
  • NP_001394895.1:p.Ile723Val
  • NP_001394896.1:p.Ile723Val
  • NP_009225.1:p.Ile1019Val
  • NP_009225.1:p.Ile1019Val
  • NP_009228.2:p.Ile972Val
  • NP_009231.2:p.Ile1019Val
  • LRG_292t1:c.3055A>G
  • LRG_292:g.125508A>G
  • LRG_292p1:p.Ile1019Val
  • NC_000017.10:g.41244493T>C
  • NM_007294.3:c.3055A>G
  • NR_027676.1:n.3191A>G
  • U14680.1:n.3174A>G
  • p.I1019V
Nucleotide change:
3174A>G
Protein change:
I1016V
Links:
dbSNP: rs80357311
NCBI 1000 Genomes Browser:
rs80357311
Molecular consequence:
  • NM_001407968.1:c.788-337A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-337A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1453A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3046A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3046A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2854A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2719A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2719A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2719A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2719A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2674A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2674A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2671A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2674A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2551A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000516821GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Aug 24, 2020) 		germlineclinical testing

Citation Link,

SCV000699000Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Dec 27, 2016) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001133546Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely benign
(Jun 27, 2023) 		unknownclinical testing

PubMed (9)
[See all records that cite these PMIDs]

SCV004811444CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Mar 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, et al.

Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

PubMed [citation]
PMID:
26689913
PMCID:
PMC4703835

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

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

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

PubMed [citation]
PMID:
16267036
See all PubMed Citations (9)

Details of each submission

From GeneDx, SCV000516821.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 15385441, 22722201, 17724471, 15235020, 16267036, 26689913)

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699000.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: The BRCA1 c.3055A>G (p.Ile1019Val) variant located in the DNA binding domain (via Lu_2015) causes a missense change, which 4/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a benign outcome. A functional study, Lu_2015 found that the variant of interest acted comparably to the wild type for HDR activity. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 1/121332, which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA1 variant of 1/1000. Multiple publications have cited the variant in an affected individual, although limited information was provided (ie, lack of cosegregation and/or co-occurrence). Multiple clinical diagnostic laboratories have cited the variant as "likely benign." Therefore, the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign," until additional information becomes available.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133546.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004811444.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

BRCA1: PM2:Supporting, BP4, BS3:Supporting

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

Last Updated: Oct 26, 2024