NM_007294.4(BRCA1):c.366T>G (p.Val122=) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Likely benign (3 submissions)
- Last evaluated:
- Aug 3, 2021
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000164590.7
Allele description [Variation Report for NM_007294.4(BRCA1):c.366T>G (p.Val122=)]
NM_007294.4(BRCA1):c.366T>G (p.Val122=)
- 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.366T>G (p.Val122=)
- HGVS:
- NC_000017.11:g.43104197A>C
- NG_005905.2:g.113787T>G
- NM_001407571.1:c.156T>G
- NM_001407581.1:c.366T>G
- NM_001407582.1:c.366T>G
- NM_001407583.1:c.366T>G
- NM_001407585.1:c.366T>G
- NM_001407587.1:c.366T>G
- NM_001407590.1:c.366T>G
- NM_001407591.1:c.366T>G
- NM_001407593.1:c.366T>G
- NM_001407594.1:c.366T>G
- NM_001407596.1:c.366T>G
- NM_001407597.1:c.366T>G
- NM_001407598.1:c.366T>G
- NM_001407602.1:c.366T>G
- NM_001407603.1:c.366T>G
- NM_001407605.1:c.366T>G
- NM_001407610.1:c.366T>G
- NM_001407611.1:c.366T>G
- NM_001407612.1:c.366T>G
- NM_001407613.1:c.366T>G
- NM_001407614.1:c.366T>G
- NM_001407615.1:c.366T>G
- NM_001407616.1:c.366T>G
- NM_001407617.1:c.366T>G
- NM_001407618.1:c.366T>G
- NM_001407619.1:c.366T>G
- NM_001407620.1:c.366T>G
- NM_001407621.1:c.366T>G
- NM_001407622.1:c.366T>G
- NM_001407623.1:c.366T>G
- NM_001407624.1:c.366T>G
- NM_001407625.1:c.366T>G
- NM_001407626.1:c.366T>G
- NM_001407627.1:c.366T>G
- NM_001407628.1:c.366T>G
- NM_001407629.1:c.366T>G
- NM_001407630.1:c.366T>G
- NM_001407631.1:c.366T>G
- NM_001407632.1:c.366T>G
- NM_001407633.1:c.366T>G
- NM_001407634.1:c.366T>G
- NM_001407635.1:c.366T>G
- NM_001407636.1:c.366T>G
- NM_001407637.1:c.366T>G
- NM_001407638.1:c.366T>G
- NM_001407639.1:c.366T>G
- NM_001407640.1:c.366T>G
- NM_001407641.1:c.366T>G
- NM_001407642.1:c.366T>G
- NM_001407644.1:c.366T>G
- NM_001407645.1:c.366T>G
- NM_001407646.1:c.357T>G
- NM_001407647.1:c.357T>G
- NM_001407648.1:c.366T>G
- NM_001407649.1:c.366T>G
- NM_001407652.1:c.366T>G
- NM_001407653.1:c.288T>G
- NM_001407654.1:c.288T>G
- NM_001407655.1:c.288T>G
- NM_001407656.1:c.288T>G
- NM_001407657.1:c.288T>G
- NM_001407658.1:c.288T>G
- NM_001407659.1:c.288T>G
- NM_001407660.1:c.288T>G
- NM_001407661.1:c.288T>G
- NM_001407662.1:c.288T>G
- NM_001407663.1:c.288T>G
- NM_001407664.1:c.366T>G
- NM_001407665.1:c.366T>G
- NM_001407666.1:c.366T>G
- NM_001407667.1:c.366T>G
- NM_001407668.1:c.366T>G
- NM_001407669.1:c.366T>G
- NM_001407670.1:c.366T>G
- NM_001407671.1:c.366T>G
- NM_001407672.1:c.366T>G
- NM_001407673.1:c.366T>G
- NM_001407674.1:c.366T>G
- NM_001407675.1:c.366T>G
- NM_001407676.1:c.366T>G
- NM_001407677.1:c.366T>G
- NM_001407678.1:c.366T>G
- NM_001407679.1:c.366T>G
- NM_001407680.1:c.366T>G
- NM_001407681.1:c.366T>G
- NM_001407682.1:c.366T>G
- NM_001407683.1:c.366T>G
- NM_001407684.1:c.366T>G
- NM_001407685.1:c.366T>G
- NM_001407686.1:c.366T>G
- NM_001407687.1:c.366T>G
- NM_001407688.1:c.366T>G
- NM_001407689.1:c.366T>G
- NM_001407690.1:c.366T>G
- NM_001407691.1:c.366T>G
- NM_001407692.1:c.225T>G
- NM_001407694.1:c.225T>G
- NM_001407695.1:c.225T>G
- NM_001407696.1:c.225T>G
- NM_001407697.1:c.225T>G
- NM_001407698.1:c.225T>G
- NM_001407724.1:c.225T>G
- NM_001407725.1:c.225T>G
- NM_001407726.1:c.225T>G
- NM_001407727.1:c.225T>G
- NM_001407728.1:c.225T>G
- NM_001407729.1:c.225T>G
- NM_001407730.1:c.225T>G
- NM_001407731.1:c.225T>G
- NM_001407732.1:c.225T>G
- NM_001407733.1:c.225T>G
- NM_001407734.1:c.225T>G
- NM_001407735.1:c.225T>G
- NM_001407736.1:c.225T>G
- NM_001407737.1:c.225T>G
- NM_001407738.1:c.225T>G
- NM_001407739.1:c.225T>G
- NM_001407740.1:c.225T>G
- NM_001407741.1:c.225T>G
- NM_001407742.1:c.225T>G
- NM_001407743.1:c.225T>G
- NM_001407744.1:c.225T>G
- NM_001407745.1:c.225T>G
- NM_001407746.1:c.225T>G
- NM_001407747.1:c.225T>G
- NM_001407748.1:c.225T>G
- NM_001407749.1:c.225T>G
- NM_001407750.1:c.225T>G
- NM_001407751.1:c.225T>G
- NM_001407752.1:c.225T>G
- NM_001407838.1:c.225T>G
- NM_001407839.1:c.225T>G
- NM_001407841.1:c.225T>G
- NM_001407842.1:c.225T>G
- NM_001407843.1:c.225T>G
- NM_001407844.1:c.225T>G
- NM_001407845.1:c.225T>G
- NM_001407846.1:c.225T>G
- NM_001407847.1:c.225T>G
- NM_001407848.1:c.225T>G
- NM_001407849.1:c.225T>G
- NM_001407850.1:c.225T>G
- NM_001407851.1:c.225T>G
- NM_001407852.1:c.225T>G
- NM_001407853.1:c.156T>G
- NM_001407854.1:c.366T>G
- NM_001407858.1:c.366T>G
- NM_001407859.1:c.366T>G
- NM_001407860.1:c.366T>G
- NM_001407861.1:c.366T>G
- NM_001407862.1:c.288T>G
- NM_001407863.1:c.366T>G
- NM_001407874.1:c.288T>G
- NM_001407875.1:c.288T>G
- NM_001407879.1:c.156T>G
- NM_001407881.1:c.156T>G
- NM_001407882.1:c.156T>G
- NM_001407884.1:c.156T>G
- NM_001407885.1:c.156T>G
- NM_001407886.1:c.156T>G
- NM_001407887.1:c.156T>G
- NM_001407889.1:c.156T>G
- NM_001407894.1:c.156T>G
- NM_001407895.1:c.156T>G
- NM_001407896.1:c.156T>G
- NM_001407897.1:c.156T>G
- NM_001407898.1:c.156T>G
- NM_001407899.1:c.156T>G
- NM_001407900.1:c.156T>G
- NM_001407902.1:c.156T>G
- NM_001407904.1:c.156T>G
- NM_001407906.1:c.156T>G
- NM_001407907.1:c.156T>G
- NM_001407908.1:c.156T>G
- NM_001407909.1:c.156T>G
- NM_001407910.1:c.156T>G
- NM_001407915.1:c.156T>G
- NM_001407916.1:c.156T>G
- NM_001407917.1:c.156T>G
- NM_001407918.1:c.156T>G
- NM_001407919.1:c.366T>G
- NM_001407920.1:c.225T>G
- NM_001407921.1:c.225T>G
- NM_001407922.1:c.225T>G
- NM_001407923.1:c.225T>G
- NM_001407924.1:c.225T>G
- NM_001407925.1:c.225T>G
- NM_001407926.1:c.225T>G
- NM_001407927.1:c.225T>G
- NM_001407928.1:c.225T>G
- NM_001407929.1:c.225T>G
- NM_001407930.1:c.225T>G
- NM_001407931.1:c.225T>G
- NM_001407932.1:c.225T>G
- NM_001407933.1:c.225T>G
- NM_001407934.1:c.225T>G
- NM_001407935.1:c.225T>G
- NM_001407936.1:c.225T>G
- NM_001407937.1:c.366T>G
- NM_001407938.1:c.366T>G
- NM_001407939.1:c.366T>G
- NM_001407940.1:c.366T>G
- NM_001407941.1:c.366T>G
- NM_001407942.1:c.225T>G
- NM_001407943.1:c.225T>G
- NM_001407944.1:c.225T>G
- NM_001407945.1:c.225T>G
- NM_001407946.1:c.156T>G
- NM_001407947.1:c.156T>G
- NM_001407948.1:c.156T>G
- NM_001407949.1:c.156T>G
- NM_001407950.1:c.156T>G
- NM_001407951.1:c.156T>G
- NM_001407952.1:c.156T>G
- NM_001407953.1:c.156T>G
- NM_001407954.1:c.156T>G
- NM_001407955.1:c.156T>G
- NM_001407956.1:c.156T>G
- NM_001407957.1:c.156T>G
- NM_001407958.1:c.156T>G
- NM_001407959.1:c.-16T>G
- NM_001407960.1:c.-16T>G
- NM_001407962.1:c.-16T>G
- NM_001407963.1:c.-16T>G
- NM_001407964.1:c.225T>G
- NM_001407965.1:c.-16T>G
- NM_001407966.1:c.-218-9337T>G
- NM_001407967.1:c.-218-9337T>G
- NM_001407968.1:c.366T>G
- NM_001407969.1:c.366T>G
- NM_001407970.1:c.366T>G
- NM_001407971.1:c.366T>G
- NM_001407972.1:c.366T>G
- NM_001407973.1:c.366T>G
- NM_001407974.1:c.366T>G
- NM_001407975.1:c.366T>G
- NM_001407976.1:c.366T>G
- NM_001407977.1:c.366T>G
- NM_001407978.1:c.366T>G
- NM_001407979.1:c.366T>G
- NM_001407980.1:c.366T>G
- NM_001407981.1:c.366T>G
- NM_001407982.1:c.366T>G
- NM_001407983.1:c.366T>G
- NM_001407984.1:c.366T>G
- NM_001407985.1:c.366T>G
- NM_001407986.1:c.366T>G
- NM_001407990.1:c.366T>G
- NM_001407991.1:c.366T>G
- NM_001407992.1:c.366T>G
- NM_001407993.1:c.366T>G
- NM_001408392.1:c.366T>G
- NM_001408396.1:c.366T>G
- NM_001408397.1:c.366T>G
- NM_001408398.1:c.366T>G
- NM_001408399.1:c.366T>G
- NM_001408400.1:c.366T>G
- NM_001408401.1:c.366T>G
- NM_001408402.1:c.366T>G
- NM_001408403.1:c.366T>G
- NM_001408404.1:c.366T>G
- NM_001408406.1:c.366T>G
- NM_001408407.1:c.366T>G
- NM_001408408.1:c.357T>G
- NM_001408409.1:c.288T>G
- NM_001408410.1:c.225T>G
- NM_001408411.1:c.288T>G
- NM_001408412.1:c.288T>G
- NM_001408413.1:c.288T>G
- NM_001408414.1:c.288T>G
- NM_001408415.1:c.288T>G
- NM_001408416.1:c.288T>G
- NM_001408418.1:c.366T>G
- NM_001408419.1:c.366T>G
- NM_001408420.1:c.366T>G
- NM_001408421.1:c.366T>G
- NM_001408422.1:c.366T>G
- NM_001408423.1:c.366T>G
- NM_001408424.1:c.366T>G
- NM_001408425.1:c.366T>G
- NM_001408426.1:c.366T>G
- NM_001408427.1:c.366T>G
- NM_001408428.1:c.366T>G
- NM_001408429.1:c.366T>G
- NM_001408430.1:c.366T>G
- NM_001408431.1:c.366T>G
- NM_001408432.1:c.366T>G
- NM_001408433.1:c.366T>G
- NM_001408434.1:c.366T>G
- NM_001408435.1:c.366T>G
- NM_001408436.1:c.366T>G
- NM_001408437.1:c.366T>G
- NM_001408438.1:c.366T>G
- NM_001408439.1:c.366T>G
- NM_001408440.1:c.366T>G
- NM_001408441.1:c.366T>G
- NM_001408442.1:c.366T>G
- NM_001408443.1:c.366T>G
- NM_001408444.1:c.366T>G
- NM_001408445.1:c.366T>G
- NM_001408446.1:c.366T>G
- NM_001408447.1:c.366T>G
- NM_001408448.1:c.366T>G
- NM_001408450.1:c.366T>G
- NM_001408451.1:c.234T>G
- NM_001408452.1:c.225T>G
- NM_001408453.1:c.225T>G
- NM_001408454.1:c.225T>G
- NM_001408455.1:c.225T>G
- NM_001408456.1:c.225T>G
- NM_001408457.1:c.225T>G
- NM_001408458.1:c.225T>G
- NM_001408459.1:c.225T>G
- NM_001408460.1:c.225T>G
- NM_001408461.1:c.225T>G
- NM_001408462.1:c.225T>G
- NM_001408463.1:c.225T>G
- NM_001408464.1:c.225T>G
- NM_001408465.1:c.225T>G
- NM_001408466.1:c.225T>G
- NM_001408467.1:c.225T>G
- NM_001408468.1:c.225T>G
- NM_001408469.1:c.225T>G
- NM_001408470.1:c.225T>G
- NM_001408472.1:c.366T>G
- NM_001408473.1:c.366T>G
- NM_001408474.1:c.288T>G
- NM_001408475.1:c.288T>G
- NM_001408476.1:c.288T>G
- NM_001408478.1:c.156T>G
- NM_001408479.1:c.156T>G
- NM_001408480.1:c.156T>G
- NM_001408481.1:c.156T>G
- NM_001408482.1:c.156T>G
- NM_001408483.1:c.156T>G
- NM_001408484.1:c.156T>G
- NM_001408485.1:c.156T>G
- NM_001408489.1:c.156T>G
- NM_001408490.1:c.156T>G
- NM_001408491.1:c.156T>G
- NM_001408492.1:c.156T>G
- NM_001408493.1:c.156T>G
- NM_001408494.1:c.366T>G
- NM_001408495.1:c.366T>G
- NM_001408496.1:c.225T>G
- NM_001408497.1:c.225T>G
- NM_001408498.1:c.225T>G
- NM_001408499.1:c.225T>G
- NM_001408500.1:c.225T>G
- NM_001408501.1:c.225T>G
- NM_001408502.1:c.156T>G
- NM_001408503.1:c.225T>G
- NM_001408504.1:c.225T>G
- NM_001408505.1:c.225T>G
- NM_001408506.1:c.156T>G
- NM_001408507.1:c.156T>G
- NM_001408508.1:c.156T>G
- NM_001408509.1:c.156T>G
- NM_001408510.1:c.-16T>G
- NM_001408511.1:c.225T>G
- NM_001408512.1:c.-16T>G
- NM_001408513.1:c.156T>G
- NM_001408514.1:c.156T>G
- NM_007294.4:c.366T>GMANE SELECT
- NM_007297.4:c.225T>G
- NM_007298.4:c.366T>G
- NM_007299.4:c.366T>G
- NM_007300.4:c.366T>G
- NM_007304.2:c.366T>G
- NP_001394500.1:p.Val52=
- NP_001394510.1:p.Val122=
- NP_001394511.1:p.Val122=
- NP_001394512.1:p.Val122=
- NP_001394514.1:p.Val122=
- NP_001394516.1:p.Val122=
- NP_001394519.1:p.Val122=
- NP_001394520.1:p.Val122=
- NP_001394522.1:p.Val122=
- NP_001394523.1:p.Val122=
- NP_001394525.1:p.Val122=
- NP_001394526.1:p.Val122=
- NP_001394527.1:p.Val122=
- NP_001394531.1:p.Val122=
- NP_001394532.1:p.Val122=
- NP_001394534.1:p.Val122=
- NP_001394539.1:p.Val122=
- NP_001394540.1:p.Val122=
- NP_001394541.1:p.Val122=
- NP_001394542.1:p.Val122=
- NP_001394543.1:p.Val122=
- NP_001394544.1:p.Val122=
- NP_001394545.1:p.Val122=
- NP_001394546.1:p.Val122=
- NP_001394547.1:p.Val122=
- NP_001394548.1:p.Val122=
- NP_001394549.1:p.Val122=
- NP_001394550.1:p.Val122=
- NP_001394551.1:p.Val122=
- NP_001394552.1:p.Val122=
- NP_001394553.1:p.Val122=
- NP_001394554.1:p.Val122=
- NP_001394555.1:p.Val122=
- NP_001394556.1:p.Val122=
- NP_001394557.1:p.Val122=
- NP_001394558.1:p.Val122=
- NP_001394559.1:p.Val122=
- NP_001394560.1:p.Val122=
- NP_001394561.1:p.Val122=
- NP_001394562.1:p.Val122=
- NP_001394563.1:p.Val122=
- NP_001394564.1:p.Val122=
- NP_001394565.1:p.Val122=
- NP_001394566.1:p.Val122=
- NP_001394567.1:p.Val122=
- NP_001394568.1:p.Val122=
- NP_001394569.1:p.Val122=
- NP_001394570.1:p.Val122=
- NP_001394571.1:p.Val122=
- NP_001394573.1:p.Val122=
- NP_001394574.1:p.Val122=
- NP_001394575.1:p.Val119=
- NP_001394576.1:p.Val119=
- NP_001394577.1:p.Val122=
- NP_001394578.1:p.Val122=
- NP_001394581.1:p.Val122=
- NP_001394582.1:p.Val96=
- NP_001394583.1:p.Val96=
- NP_001394584.1:p.Val96=
- NP_001394585.1:p.Val96=
- NP_001394586.1:p.Val96=
- NP_001394587.1:p.Val96=
- NP_001394588.1:p.Val96=
- NP_001394589.1:p.Val96=
- NP_001394590.1:p.Val96=
- NP_001394591.1:p.Val96=
- NP_001394592.1:p.Val96=
- NP_001394593.1:p.Val122=
- NP_001394594.1:p.Val122=
- NP_001394595.1:p.Val122=
- NP_001394596.1:p.Val122=
- NP_001394597.1:p.Val122=
- NP_001394598.1:p.Val122=
- NP_001394599.1:p.Val122=
- NP_001394600.1:p.Val122=
- NP_001394601.1:p.Val122=
- NP_001394602.1:p.Val122=
- NP_001394603.1:p.Val122=
- NP_001394604.1:p.Val122=
- NP_001394605.1:p.Val122=
- NP_001394606.1:p.Val122=
- NP_001394607.1:p.Val122=
- NP_001394608.1:p.Val122=
- NP_001394609.1:p.Val122=
- NP_001394610.1:p.Val122=
- NP_001394611.1:p.Val122=
- NP_001394612.1:p.Val122=
- NP_001394613.1:p.Val122=
- NP_001394614.1:p.Val122=
- NP_001394615.1:p.Val122=
- NP_001394616.1:p.Val122=
- NP_001394617.1:p.Val122=
- NP_001394618.1:p.Val122=
- NP_001394619.1:p.Val122=
- NP_001394620.1:p.Val122=
- NP_001394621.1:p.Val75=
- NP_001394623.1:p.Val75=
- NP_001394624.1:p.Val75=
- NP_001394625.1:p.Val75=
- NP_001394626.1:p.Val75=
- NP_001394627.1:p.Val75=
- NP_001394653.1:p.Val75=
- NP_001394654.1:p.Val75=
- NP_001394655.1:p.Val75=
- NP_001394656.1:p.Val75=
- NP_001394657.1:p.Val75=
- NP_001394658.1:p.Val75=
- NP_001394659.1:p.Val75=
- NP_001394660.1:p.Val75=
- NP_001394661.1:p.Val75=
- NP_001394662.1:p.Val75=
- NP_001394663.1:p.Val75=
- NP_001394664.1:p.Val75=
- NP_001394665.1:p.Val75=
- NP_001394666.1:p.Val75=
- NP_001394667.1:p.Val75=
- NP_001394668.1:p.Val75=
- NP_001394669.1:p.Val75=
- NP_001394670.1:p.Val75=
- NP_001394671.1:p.Val75=
- NP_001394672.1:p.Val75=
- NP_001394673.1:p.Val75=
- NP_001394674.1:p.Val75=
- NP_001394675.1:p.Val75=
- NP_001394676.1:p.Val75=
- NP_001394677.1:p.Val75=
- NP_001394678.1:p.Val75=
- NP_001394679.1:p.Val75=
- NP_001394680.1:p.Val75=
- NP_001394681.1:p.Val75=
- NP_001394767.1:p.Val75=
- NP_001394768.1:p.Val75=
- NP_001394770.1:p.Val75=
- NP_001394771.1:p.Val75=
- NP_001394772.1:p.Val75=
- NP_001394773.1:p.Val75=
- NP_001394774.1:p.Val75=
- NP_001394775.1:p.Val75=
- NP_001394776.1:p.Val75=
- NP_001394777.1:p.Val75=
- NP_001394778.1:p.Val75=
- NP_001394779.1:p.Val75=
- NP_001394780.1:p.Val75=
- NP_001394781.1:p.Val75=
- NP_001394782.1:p.Val52=
- NP_001394783.1:p.Val122=
- NP_001394787.1:p.Val122=
- NP_001394788.1:p.Val122=
- NP_001394789.1:p.Val122=
- NP_001394790.1:p.Val122=
- NP_001394791.1:p.Val96=
- NP_001394792.1:p.Val122=
- NP_001394803.1:p.Val96=
- NP_001394804.1:p.Val96=
- NP_001394808.1:p.Val52=
- NP_001394810.1:p.Val52=
- NP_001394811.1:p.Val52=
- NP_001394813.1:p.Val52=
- NP_001394814.1:p.Val52=
- NP_001394815.1:p.Val52=
- NP_001394816.1:p.Val52=
- NP_001394818.1:p.Val52=
- NP_001394823.1:p.Val52=
- NP_001394824.1:p.Val52=
- NP_001394825.1:p.Val52=
- NP_001394826.1:p.Val52=
- NP_001394827.1:p.Val52=
- NP_001394828.1:p.Val52=
- NP_001394829.1:p.Val52=
- NP_001394831.1:p.Val52=
- NP_001394833.1:p.Val52=
- NP_001394835.1:p.Val52=
- NP_001394836.1:p.Val52=
- NP_001394837.1:p.Val52=
- NP_001394838.1:p.Val52=
- NP_001394839.1:p.Val52=
- NP_001394844.1:p.Val52=
- NP_001394845.1:p.Val52=
- NP_001394846.1:p.Val52=
- NP_001394847.1:p.Val52=
- NP_001394848.1:p.Val122=
- NP_001394849.1:p.Val75=
- NP_001394850.1:p.Val75=
- NP_001394851.1:p.Val75=
- NP_001394852.1:p.Val75=
- NP_001394853.1:p.Val75=
- NP_001394854.1:p.Val75=
- NP_001394855.1:p.Val75=
- NP_001394856.1:p.Val75=
- NP_001394857.1:p.Val75=
- NP_001394858.1:p.Val75=
- NP_001394859.1:p.Val75=
- NP_001394860.1:p.Val75=
- NP_001394861.1:p.Val75=
- NP_001394862.1:p.Val75=
- NP_001394863.1:p.Val75=
- NP_001394864.1:p.Val75=
- NP_001394865.1:p.Val75=
- NP_001394866.1:p.Val122=
- NP_001394867.1:p.Val122=
- NP_001394868.1:p.Val122=
- NP_001394869.1:p.Val122=
- NP_001394870.1:p.Val122=
- NP_001394871.1:p.Val75=
- NP_001394872.1:p.Val75=
- NP_001394873.1:p.Val75=
- NP_001394874.1:p.Val75=
- NP_001394875.1:p.Val52=
- NP_001394876.1:p.Val52=
- NP_001394877.1:p.Val52=
- NP_001394878.1:p.Val52=
- NP_001394879.1:p.Val52=
- NP_001394880.1:p.Val52=
- NP_001394881.1:p.Val52=
- NP_001394882.1:p.Val52=
- NP_001394883.1:p.Val52=
- NP_001394884.1:p.Val52=
- NP_001394885.1:p.Val52=
- NP_001394886.1:p.Val52=
- NP_001394887.1:p.Val52=
- NP_001394893.1:p.Val75=
- NP_001394897.1:p.Val122=
- NP_001394898.1:p.Val122=
- NP_001394899.1:p.Val122=
- NP_001394900.1:p.Val122=
- NP_001394901.1:p.Val122=
- NP_001394902.1:p.Val122=
- NP_001394903.1:p.Val122=
- NP_001394904.1:p.Val122=
- NP_001394905.1:p.Val122=
- NP_001394906.1:p.Val122=
- NP_001394907.1:p.Val122=
- NP_001394908.1:p.Val122=
- NP_001394909.1:p.Val122=
- NP_001394910.1:p.Val122=
- NP_001394911.1:p.Val122=
- NP_001394912.1:p.Val122=
- NP_001394913.1:p.Val122=
- NP_001394914.1:p.Val122=
- NP_001394915.1:p.Val122=
- NP_001394919.1:p.Val122=
- NP_001394920.1:p.Val122=
- NP_001394921.1:p.Val122=
- NP_001394922.1:p.Val122=
- NP_001395321.1:p.Val122=
- NP_001395325.1:p.Val122=
- NP_001395326.1:p.Val122=
- NP_001395327.1:p.Val122=
- NP_001395328.1:p.Val122=
- NP_001395329.1:p.Val122=
- NP_001395330.1:p.Val122=
- NP_001395331.1:p.Val122=
- NP_001395332.1:p.Val122=
- NP_001395333.1:p.Val122=
- NP_001395335.1:p.Val122=
- NP_001395336.1:p.Val122=
- NP_001395337.1:p.Val119=
- NP_001395338.1:p.Val96=
- NP_001395339.1:p.Val75=
- NP_001395340.1:p.Val96=
- NP_001395341.1:p.Val96=
- NP_001395342.1:p.Val96=
- NP_001395343.1:p.Val96=
- NP_001395344.1:p.Val96=
- NP_001395345.1:p.Val96=
- NP_001395347.1:p.Val122=
- NP_001395348.1:p.Val122=
- NP_001395349.1:p.Val122=
- NP_001395350.1:p.Val122=
- NP_001395351.1:p.Val122=
- NP_001395352.1:p.Val122=
- NP_001395353.1:p.Val122=
- NP_001395354.1:p.Val122=
- NP_001395355.1:p.Val122=
- NP_001395356.1:p.Val122=
- NP_001395357.1:p.Val122=
- NP_001395358.1:p.Val122=
- NP_001395359.1:p.Val122=
- NP_001395360.1:p.Val122=
- NP_001395361.1:p.Val122=
- NP_001395362.1:p.Val122=
- NP_001395363.1:p.Val122=
- NP_001395364.1:p.Val122=
- NP_001395365.1:p.Val122=
- NP_001395366.1:p.Val122=
- NP_001395367.1:p.Val122=
- NP_001395368.1:p.Val122=
- NP_001395369.1:p.Val122=
- NP_001395370.1:p.Val122=
- NP_001395371.1:p.Val122=
- NP_001395372.1:p.Val122=
- NP_001395373.1:p.Val122=
- NP_001395374.1:p.Val122=
- NP_001395375.1:p.Val122=
- NP_001395376.1:p.Val122=
- NP_001395377.1:p.Val122=
- NP_001395379.1:p.Val122=
- NP_001395380.1:p.Val78=
- NP_001395381.1:p.Val75=
- NP_001395382.1:p.Val75=
- NP_001395383.1:p.Val75=
- NP_001395384.1:p.Val75=
- NP_001395385.1:p.Val75=
- NP_001395386.1:p.Val75=
- NP_001395387.1:p.Val75=
- NP_001395388.1:p.Val75=
- NP_001395389.1:p.Val75=
- NP_001395390.1:p.Val75=
- NP_001395391.1:p.Val75=
- NP_001395392.1:p.Val75=
- NP_001395393.1:p.Val75=
- NP_001395394.1:p.Val75=
- NP_001395395.1:p.Val75=
- NP_001395396.1:p.Val75=
- NP_001395397.1:p.Val75=
- NP_001395398.1:p.Val75=
- NP_001395399.1:p.Val75=
- NP_001395401.1:p.Val122=
- NP_001395402.1:p.Val122=
- NP_001395403.1:p.Val96=
- NP_001395404.1:p.Val96=
- NP_001395405.1:p.Val96=
- NP_001395407.1:p.Val52=
- NP_001395408.1:p.Val52=
- NP_001395409.1:p.Val52=
- NP_001395410.1:p.Val52=
- NP_001395411.1:p.Val52=
- NP_001395412.1:p.Val52=
- NP_001395413.1:p.Val52=
- NP_001395414.1:p.Val52=
- NP_001395418.1:p.Val52=
- NP_001395419.1:p.Val52=
- NP_001395420.1:p.Val52=
- NP_001395421.1:p.Val52=
- NP_001395422.1:p.Val52=
- NP_001395423.1:p.Val122=
- NP_001395424.1:p.Val122=
- NP_001395425.1:p.Val75=
- NP_001395426.1:p.Val75=
- NP_001395427.1:p.Val75=
- NP_001395428.1:p.Val75=
- NP_001395429.1:p.Val75=
- NP_001395430.1:p.Val75=
- NP_001395431.1:p.Val52=
- NP_001395432.1:p.Val75=
- NP_001395433.1:p.Val75=
- NP_001395434.1:p.Val75=
- NP_001395435.1:p.Val52=
- NP_001395436.1:p.Val52=
- NP_001395437.1:p.Val52=
- NP_001395438.1:p.Val52=
- NP_001395440.1:p.Val75=
- NP_001395442.1:p.Val52=
- NP_001395443.1:p.Val52=
- NP_009225.1:p.Val122=
- NP_009225.1:p.Val122=
- NP_009228.2:p.Val75=
- NP_009229.2:p.Val122=
- NP_009230.2:p.Val122=
- NP_009231.2:p.Val122=
- NP_009235.2:p.Val122=
- LRG_292t1:c.366T>G
- LRG_292:g.113787T>G
- LRG_292p1:p.Val122=
- NC_000017.10:g.41256214A>C
- NM_007294.3:c.366T>G
- NR_027676.2:n.546T>G
- p.V122V
- p.Val122Val
This HGVS expression did not pass validation- Links:
- dbSNP: rs190900046
- NCBI 1000 Genomes Browser:
- rs190900046
- Molecular consequence:
- NM_001407959.1:c.-16T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407960.1:c.-16T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407962.1:c.-16T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407963.1:c.-16T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407965.1:c.-16T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408510.1:c.-16T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408512.1:c.-16T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407966.1:c.-218-9337T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407967.1:c.-218-9337T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407581.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407582.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407583.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407585.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407587.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407590.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407591.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407593.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407594.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407596.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407597.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407598.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407602.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407603.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407605.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407610.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407611.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407612.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407613.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407614.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407615.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407616.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407617.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407618.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407619.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407620.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407621.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407622.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407623.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407624.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407625.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407626.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407627.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407628.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407629.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407630.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407631.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407632.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407633.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407634.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407635.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407636.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407637.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407638.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407639.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407640.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407641.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407642.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407644.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407645.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407646.1:c.357T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407647.1:c.357T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407648.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407649.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407652.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407653.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407654.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407655.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407656.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407657.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407658.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407659.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407660.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407661.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407662.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407663.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407664.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407665.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407666.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407667.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407668.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407669.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407670.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407671.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407672.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407673.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407674.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407675.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407676.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407677.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407678.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407679.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407680.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407681.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407682.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407683.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407684.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407685.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407686.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407687.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407688.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407689.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407690.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407691.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407692.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407694.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407695.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407696.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407697.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407698.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407724.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407725.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407726.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407727.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407728.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407729.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407730.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407731.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407732.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407733.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407734.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407735.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407736.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407737.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407738.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407739.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407740.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407741.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407742.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407743.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407744.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407745.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407746.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407747.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407748.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407749.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407750.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407751.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407752.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407838.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407839.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407841.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407842.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407843.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407844.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407845.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407846.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407847.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407848.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407849.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407850.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407851.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407852.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407853.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407854.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407858.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407859.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407860.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407861.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407862.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407863.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407874.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407875.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407879.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407881.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407882.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407884.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407885.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407886.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407887.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407889.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407894.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407895.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407896.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407897.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407898.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407899.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407900.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407902.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407904.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407906.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407907.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407908.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407909.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407910.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407915.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407916.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407917.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407918.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407919.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407920.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407921.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407922.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407923.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407924.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407925.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407926.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407927.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407928.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407929.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407930.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407931.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407932.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407933.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407934.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407935.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407936.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407937.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407938.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407939.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407940.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407941.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407942.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407943.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407944.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407945.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407946.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407947.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407948.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407949.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407950.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407951.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407952.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407953.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407954.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407955.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407956.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407957.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407958.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407964.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407968.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407969.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407970.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407971.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407972.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407973.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407974.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407975.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407976.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407977.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407978.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407979.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407980.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407981.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407982.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407983.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407984.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407985.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407986.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407990.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407991.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407992.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407993.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408392.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408396.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408397.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408398.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408399.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408400.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408401.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408402.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408403.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408404.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408406.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408407.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408408.1:c.357T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408409.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408410.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408411.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408412.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408413.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408414.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408415.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408416.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408418.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408419.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408420.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408421.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408422.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408423.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408424.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408425.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408426.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408427.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408428.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408429.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408430.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408431.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408432.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408433.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408434.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408435.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408436.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408437.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408438.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408439.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408440.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408441.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408442.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408443.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408444.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408445.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408446.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408447.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408448.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408450.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408451.1:c.234T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408452.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408453.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408454.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408455.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408456.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408457.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408458.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408459.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408460.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408461.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408462.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408463.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408464.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408465.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408466.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408467.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408468.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408469.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408470.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408472.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408473.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408474.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408475.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408476.1:c.288T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408478.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408479.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408480.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408481.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408482.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408483.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408484.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408485.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408489.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408490.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408491.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408492.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408493.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408494.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408495.1:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408496.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408497.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408498.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408499.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408500.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408501.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408502.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408503.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408504.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408505.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408506.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408507.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408508.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408509.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408511.1:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408513.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408514.1:c.156T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007294.4:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007297.4:c.225T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007298.4:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007299.4:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007300.4:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007304.2:c.366T>G - synonymous variant - [Sequence Ontology: SO:0001819]
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
unnamed protein product, partial [Homo sapiens]
unnamed protein product, partial [Homo sapiens]gi|32364|emb|CAA27420.1|Protein
-
Determining the Necessity of Laboratory Dogs in Biomedical Research Funded by or...
Determining the Necessity of Laboratory Dogs in Biomedical Research Funded by or Conducted at the U.S. Department of Veterans Affairs - Necessity, Use, and Care of Laboratory Dogs at the U.S. Department of Veterans Affairs
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000215249 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Likely benign (Oct 23, 2014) | germline | clinical testing | |
SCV000688447 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely benign (Sep 11, 2017) | germline | clinical testing | |
SCV002538227 | Sema4, Sema4 | criteria provided, single submitter (Sema4 Curation Guidelines) | Likely benign (Aug 3, 2021) | germline | curation |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing, curation |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From Ambry Genetics, SCV000215249.6
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Color Diagnostics, LLC DBA Color Health, SCV000688447.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Sema4, Sema4, SCV002538227.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Sep 29, 2024