NM_007294.4(BRCA1):c.3058C>G (p.Pro1020Ala) AND Hereditary breast ovarian cancer syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 15, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002837971.2

Allele description

NM_007294.4(BRCA1):c.3058C>G (p.Pro1020Ala)

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.3058C>G (p.Pro1020Ala)

HGVS:

NC_000017.11:g.43092473G>C
NG_005905.2:g.125511C>G
NM_001407571.1:c.2845C>G
NM_001407581.1:c.3058C>G
NM_001407582.1:c.3058C>G
NM_001407583.1:c.3058C>G
NM_001407585.1:c.3058C>G
NM_001407587.1:c.3055C>G
NM_001407590.1:c.3055C>G
NM_001407591.1:c.3055C>G
NM_001407593.1:c.3058C>G
NM_001407594.1:c.3058C>G
NM_001407596.1:c.3058C>G
NM_001407597.1:c.3058C>G
NM_001407598.1:c.3058C>G
NM_001407602.1:c.3058C>G
NM_001407603.1:c.3058C>G
NM_001407605.1:c.3058C>G
NM_001407610.1:c.3055C>G
NM_001407611.1:c.3055C>G
NM_001407612.1:c.3055C>G
NM_001407613.1:c.3055C>G
NM_001407614.1:c.3055C>G
NM_001407615.1:c.3055C>G
NM_001407616.1:c.3058C>G
NM_001407617.1:c.3058C>G
NM_001407618.1:c.3058C>G
NM_001407619.1:c.3058C>G
NM_001407620.1:c.3058C>G
NM_001407621.1:c.3058C>G
NM_001407622.1:c.3058C>G
NM_001407623.1:c.3058C>G
NM_001407624.1:c.3058C>G
NM_001407625.1:c.3058C>G
NM_001407626.1:c.3058C>G
NM_001407627.1:c.3055C>G
NM_001407628.1:c.3055C>G
NM_001407629.1:c.3055C>G
NM_001407630.1:c.3055C>G
NM_001407631.1:c.3055C>G
NM_001407632.1:c.3055C>G
NM_001407633.1:c.3055C>G
NM_001407634.1:c.3055C>G
NM_001407635.1:c.3055C>G
NM_001407636.1:c.3055C>G
NM_001407637.1:c.3055C>G
NM_001407638.1:c.3055C>G
NM_001407639.1:c.3058C>G
NM_001407640.1:c.3058C>G
NM_001407641.1:c.3058C>G
NM_001407642.1:c.3058C>G
NM_001407644.1:c.3055C>G
NM_001407645.1:c.3055C>G
NM_001407646.1:c.3049C>G
NM_001407647.1:c.3049C>G
NM_001407648.1:c.2935C>G
NM_001407649.1:c.2932C>G
NM_001407652.1:c.3058C>G
NM_001407653.1:c.2980C>G
NM_001407654.1:c.2980C>G
NM_001407655.1:c.2980C>G
NM_001407656.1:c.2980C>G
NM_001407657.1:c.2980C>G
NM_001407658.1:c.2980C>G
NM_001407659.1:c.2977C>G
NM_001407660.1:c.2977C>G
NM_001407661.1:c.2977C>G
NM_001407662.1:c.2977C>G
NM_001407663.1:c.2980C>G
NM_001407664.1:c.2935C>G
NM_001407665.1:c.2935C>G
NM_001407666.1:c.2935C>G
NM_001407667.1:c.2935C>G
NM_001407668.1:c.2935C>G
NM_001407669.1:c.2935C>G
NM_001407670.1:c.2932C>G
NM_001407671.1:c.2932C>G
NM_001407672.1:c.2932C>G
NM_001407673.1:c.2932C>G
NM_001407674.1:c.2935C>G
NM_001407675.1:c.2935C>G
NM_001407676.1:c.2935C>G
NM_001407677.1:c.2935C>G
NM_001407678.1:c.2935C>G
NM_001407679.1:c.2935C>G
NM_001407680.1:c.2935C>G
NM_001407681.1:c.2935C>G
NM_001407682.1:c.2935C>G
NM_001407683.1:c.2935C>G
NM_001407684.1:c.3058C>G
NM_001407685.1:c.2932C>G
NM_001407686.1:c.2932C>G
NM_001407687.1:c.2932C>G
NM_001407688.1:c.2932C>G
NM_001407689.1:c.2932C>G
NM_001407690.1:c.2932C>G
NM_001407691.1:c.2932C>G
NM_001407692.1:c.2917C>G
NM_001407694.1:c.2917C>G
NM_001407695.1:c.2917C>G
NM_001407696.1:c.2917C>G
NM_001407697.1:c.2917C>G
NM_001407698.1:c.2917C>G
NM_001407724.1:c.2917C>G
NM_001407725.1:c.2917C>G
NM_001407726.1:c.2917C>G
NM_001407727.1:c.2917C>G
NM_001407728.1:c.2917C>G
NM_001407729.1:c.2917C>G
NM_001407730.1:c.2917C>G
NM_001407731.1:c.2917C>G
NM_001407732.1:c.2917C>G
NM_001407733.1:c.2917C>G
NM_001407734.1:c.2917C>G
NM_001407735.1:c.2917C>G
NM_001407736.1:c.2917C>G
NM_001407737.1:c.2917C>G
NM_001407738.1:c.2917C>G
NM_001407739.1:c.2917C>G
NM_001407740.1:c.2914C>G
NM_001407741.1:c.2914C>G
NM_001407742.1:c.2914C>G
NM_001407743.1:c.2914C>G
NM_001407744.1:c.2914C>G
NM_001407745.1:c.2914C>G
NM_001407746.1:c.2914C>G
NM_001407747.1:c.2914C>G
NM_001407748.1:c.2914C>G
NM_001407749.1:c.2914C>G
NM_001407750.1:c.2917C>G
NM_001407751.1:c.2917C>G
NM_001407752.1:c.2917C>G
NM_001407838.1:c.2914C>G
NM_001407839.1:c.2914C>G
NM_001407841.1:c.2914C>G
NM_001407842.1:c.2914C>G
NM_001407843.1:c.2914C>G
NM_001407844.1:c.2914C>G
NM_001407845.1:c.2914C>G
NM_001407846.1:c.2914C>G
NM_001407847.1:c.2914C>G
NM_001407848.1:c.2914C>G
NM_001407849.1:c.2914C>G
NM_001407850.1:c.2917C>G
NM_001407851.1:c.2917C>G
NM_001407852.1:c.2917C>G
NM_001407853.1:c.2845C>G
NM_001407854.1:c.3058C>G
NM_001407858.1:c.3058C>G
NM_001407859.1:c.3058C>G
NM_001407860.1:c.3055C>G
NM_001407861.1:c.3055C>G
NM_001407862.1:c.2857C>G
NM_001407863.1:c.2935C>G
NM_001407874.1:c.2854C>G
NM_001407875.1:c.2854C>G
NM_001407879.1:c.2848C>G
NM_001407881.1:c.2848C>G
NM_001407882.1:c.2848C>G
NM_001407884.1:c.2848C>G
NM_001407885.1:c.2848C>G
NM_001407886.1:c.2848C>G
NM_001407887.1:c.2848C>G
NM_001407889.1:c.2848C>G
NM_001407894.1:c.2845C>G
NM_001407895.1:c.2845C>G
NM_001407896.1:c.2845C>G
NM_001407897.1:c.2845C>G
NM_001407898.1:c.2845C>G
NM_001407899.1:c.2845C>G
NM_001407900.1:c.2848C>G
NM_001407902.1:c.2848C>G
NM_001407904.1:c.2848C>G
NM_001407906.1:c.2848C>G
NM_001407907.1:c.2848C>G
NM_001407908.1:c.2848C>G
NM_001407909.1:c.2848C>G
NM_001407910.1:c.2848C>G
NM_001407915.1:c.2845C>G
NM_001407916.1:c.2845C>G
NM_001407917.1:c.2845C>G
NM_001407918.1:c.2845C>G
NM_001407919.1:c.2935C>G
NM_001407920.1:c.2794C>G
NM_001407921.1:c.2794C>G
NM_001407922.1:c.2794C>G
NM_001407923.1:c.2794C>G
NM_001407924.1:c.2794C>G
NM_001407925.1:c.2794C>G
NM_001407926.1:c.2794C>G
NM_001407927.1:c.2794C>G
NM_001407928.1:c.2794C>G
NM_001407929.1:c.2794C>G
NM_001407930.1:c.2791C>G
NM_001407931.1:c.2791C>G
NM_001407932.1:c.2791C>G
NM_001407933.1:c.2794C>G
NM_001407934.1:c.2791C>G
NM_001407935.1:c.2794C>G
NM_001407936.1:c.2791C>G
NM_001407937.1:c.2935C>G
NM_001407938.1:c.2935C>G
NM_001407939.1:c.2935C>G
NM_001407940.1:c.2932C>G
NM_001407941.1:c.2932C>G
NM_001407942.1:c.2917C>G
NM_001407943.1:c.2914C>G
NM_001407944.1:c.2917C>G
NM_001407945.1:c.2917C>G
NM_001407946.1:c.2725C>G
NM_001407947.1:c.2725C>G
NM_001407948.1:c.2725C>G
NM_001407949.1:c.2725C>G
NM_001407950.1:c.2725C>G
NM_001407951.1:c.2725C>G
NM_001407952.1:c.2725C>G
NM_001407953.1:c.2725C>G
NM_001407954.1:c.2722C>G
NM_001407955.1:c.2722C>G
NM_001407956.1:c.2722C>G
NM_001407957.1:c.2725C>G
NM_001407958.1:c.2722C>G
NM_001407959.1:c.2677C>G
NM_001407960.1:c.2677C>G
NM_001407962.1:c.2674C>G
NM_001407963.1:c.2677C>G
NM_001407964.1:c.2914C>G
NM_001407965.1:c.2554C>G
NM_001407966.1:c.2170C>G
NM_001407967.1:c.2170C>G
NM_001407968.1:c.788-334C>G
NM_001407969.1:c.788-334C>G
NM_001407970.1:c.788-1441C>G
NM_001407971.1:c.788-1441C>G
NM_001407972.1:c.785-1441C>G
NM_001407973.1:c.788-1441C>G
NM_001407974.1:c.788-1441C>G
NM_001407975.1:c.788-1441C>G
NM_001407976.1:c.788-1441C>G
NM_001407977.1:c.788-1441C>G
NM_001407978.1:c.788-1441C>G
NM_001407979.1:c.788-1441C>G
NM_001407980.1:c.788-1441C>G
NM_001407981.1:c.788-1441C>G
NM_001407982.1:c.788-1441C>G
NM_001407983.1:c.788-1441C>G
NM_001407984.1:c.785-1441C>G
NM_001407985.1:c.785-1441C>G
NM_001407986.1:c.785-1441C>G
NM_001407990.1:c.788-1441C>G
NM_001407991.1:c.785-1441C>G
NM_001407992.1:c.785-1441C>G
NM_001407993.1:c.788-1441C>G
NM_001408392.1:c.785-1441C>G
NM_001408396.1:c.785-1441C>G
NM_001408397.1:c.785-1441C>G
NM_001408398.1:c.785-1441C>G
NM_001408399.1:c.785-1441C>G
NM_001408400.1:c.785-1441C>G
NM_001408401.1:c.785-1441C>G
NM_001408402.1:c.785-1441C>G
NM_001408403.1:c.788-1441C>G
NM_001408404.1:c.788-1441C>G
NM_001408406.1:c.791-1450C>G
NM_001408407.1:c.785-1441C>G
NM_001408408.1:c.779-1441C>G
NM_001408409.1:c.710-1441C>G
NM_001408410.1:c.647-1441C>G
NM_001408411.1:c.710-1441C>G
NM_001408412.1:c.710-1441C>G
NM_001408413.1:c.707-1441C>G
NM_001408414.1:c.710-1441C>G
NM_001408415.1:c.710-1441C>G
NM_001408416.1:c.707-1441C>G
NM_001408418.1:c.671-1441C>G
NM_001408419.1:c.671-1441C>G
NM_001408420.1:c.671-1441C>G
NM_001408421.1:c.668-1441C>G
NM_001408422.1:c.671-1441C>G
NM_001408423.1:c.671-1441C>G
NM_001408424.1:c.668-1441C>G
NM_001408425.1:c.665-1441C>G
NM_001408426.1:c.665-1441C>G
NM_001408427.1:c.665-1441C>G
NM_001408428.1:c.665-1441C>G
NM_001408429.1:c.665-1441C>G
NM_001408430.1:c.665-1441C>G
NM_001408431.1:c.668-1441C>G
NM_001408432.1:c.662-1441C>G
NM_001408433.1:c.662-1441C>G
NM_001408434.1:c.662-1441C>G
NM_001408435.1:c.662-1441C>G
NM_001408436.1:c.665-1441C>G
NM_001408437.1:c.665-1441C>G
NM_001408438.1:c.665-1441C>G
NM_001408439.1:c.665-1441C>G
NM_001408440.1:c.665-1441C>G
NM_001408441.1:c.665-1441C>G
NM_001408442.1:c.665-1441C>G
NM_001408443.1:c.665-1441C>G
NM_001408444.1:c.665-1441C>G
NM_001408445.1:c.662-1441C>G
NM_001408446.1:c.662-1441C>G
NM_001408447.1:c.662-1441C>G
NM_001408448.1:c.662-1441C>G
NM_001408450.1:c.662-1441C>G
NM_001408451.1:c.653-1441C>G
NM_001408452.1:c.647-1441C>G
NM_001408453.1:c.647-1441C>G
NM_001408454.1:c.647-1441C>G
NM_001408455.1:c.647-1441C>G
NM_001408456.1:c.647-1441C>G
NM_001408457.1:c.647-1441C>G
NM_001408458.1:c.647-1441C>G
NM_001408459.1:c.647-1441C>G
NM_001408460.1:c.647-1441C>G
NM_001408461.1:c.647-1441C>G
NM_001408462.1:c.644-1441C>G
NM_001408463.1:c.644-1441C>G
NM_001408464.1:c.644-1441C>G
NM_001408465.1:c.644-1441C>G
NM_001408466.1:c.647-1441C>G
NM_001408467.1:c.647-1441C>G
NM_001408468.1:c.644-1441C>G
NM_001408469.1:c.647-1441C>G
NM_001408470.1:c.644-1441C>G
NM_001408472.1:c.788-1441C>G
NM_001408473.1:c.785-1441C>G
NM_001408474.1:c.587-1441C>G
NM_001408475.1:c.584-1441C>G
NM_001408476.1:c.587-1441C>G
NM_001408478.1:c.578-1441C>G
NM_001408479.1:c.578-1441C>G
NM_001408480.1:c.578-1441C>G
NM_001408481.1:c.578-1441C>G
NM_001408482.1:c.578-1441C>G
NM_001408483.1:c.578-1441C>G
NM_001408484.1:c.578-1441C>G
NM_001408485.1:c.578-1441C>G
NM_001408489.1:c.578-1441C>G
NM_001408490.1:c.575-1441C>G
NM_001408491.1:c.575-1441C>G
NM_001408492.1:c.578-1441C>G
NM_001408493.1:c.575-1441C>G
NM_001408494.1:c.548-1441C>G
NM_001408495.1:c.545-1441C>G
NM_001408496.1:c.524-1441C>G
NM_001408497.1:c.524-1441C>G
NM_001408498.1:c.524-1441C>G
NM_001408499.1:c.524-1441C>G
NM_001408500.1:c.524-1441C>G
NM_001408501.1:c.524-1441C>G
NM_001408502.1:c.455-1441C>G
NM_001408503.1:c.521-1441C>G
NM_001408504.1:c.521-1441C>G
NM_001408505.1:c.521-1441C>G
NM_001408506.1:c.461-1441C>G
NM_001408507.1:c.461-1441C>G
NM_001408508.1:c.452-1441C>G
NM_001408509.1:c.452-1441C>G
NM_001408510.1:c.407-1441C>G
NM_001408511.1:c.404-1441C>G
NM_001408512.1:c.284-1441C>G
NM_001408513.1:c.578-1441C>G
NM_001408514.1:c.578-1441C>G
NM_007294.4:c.3058C>GMANE SELECT
NM_007297.4:c.2917C>G
NM_007298.4:c.788-1441C>G
NM_007299.4:c.788-1441C>G
NM_007300.4:c.3058C>G
NP_001394500.1:p.Pro949Ala
NP_001394510.1:p.Pro1020Ala
NP_001394511.1:p.Pro1020Ala
NP_001394512.1:p.Pro1020Ala
NP_001394514.1:p.Pro1020Ala
NP_001394516.1:p.Pro1019Ala
NP_001394519.1:p.Pro1019Ala
NP_001394520.1:p.Pro1019Ala
NP_001394522.1:p.Pro1020Ala
NP_001394523.1:p.Pro1020Ala
NP_001394525.1:p.Pro1020Ala
NP_001394526.1:p.Pro1020Ala
NP_001394527.1:p.Pro1020Ala
NP_001394531.1:p.Pro1020Ala
NP_001394532.1:p.Pro1020Ala
NP_001394534.1:p.Pro1020Ala
NP_001394539.1:p.Pro1019Ala
NP_001394540.1:p.Pro1019Ala
NP_001394541.1:p.Pro1019Ala
NP_001394542.1:p.Pro1019Ala
NP_001394543.1:p.Pro1019Ala
NP_001394544.1:p.Pro1019Ala
NP_001394545.1:p.Pro1020Ala
NP_001394546.1:p.Pro1020Ala
NP_001394547.1:p.Pro1020Ala
NP_001394548.1:p.Pro1020Ala
NP_001394549.1:p.Pro1020Ala
NP_001394550.1:p.Pro1020Ala
NP_001394551.1:p.Pro1020Ala
NP_001394552.1:p.Pro1020Ala
NP_001394553.1:p.Pro1020Ala
NP_001394554.1:p.Pro1020Ala
NP_001394555.1:p.Pro1020Ala
NP_001394556.1:p.Pro1019Ala
NP_001394557.1:p.Pro1019Ala
NP_001394558.1:p.Pro1019Ala
NP_001394559.1:p.Pro1019Ala
NP_001394560.1:p.Pro1019Ala
NP_001394561.1:p.Pro1019Ala
NP_001394562.1:p.Pro1019Ala
NP_001394563.1:p.Pro1019Ala
NP_001394564.1:p.Pro1019Ala
NP_001394565.1:p.Pro1019Ala
NP_001394566.1:p.Pro1019Ala
NP_001394567.1:p.Pro1019Ala
NP_001394568.1:p.Pro1020Ala
NP_001394569.1:p.Pro1020Ala
NP_001394570.1:p.Pro1020Ala
NP_001394571.1:p.Pro1020Ala
NP_001394573.1:p.Pro1019Ala
NP_001394574.1:p.Pro1019Ala
NP_001394575.1:p.Pro1017Ala
NP_001394576.1:p.Pro1017Ala
NP_001394577.1:p.Pro979Ala
NP_001394578.1:p.Pro978Ala
NP_001394581.1:p.Pro1020Ala
NP_001394582.1:p.Pro994Ala
NP_001394583.1:p.Pro994Ala
NP_001394584.1:p.Pro994Ala
NP_001394585.1:p.Pro994Ala
NP_001394586.1:p.Pro994Ala
NP_001394587.1:p.Pro994Ala
NP_001394588.1:p.Pro993Ala
NP_001394589.1:p.Pro993Ala
NP_001394590.1:p.Pro993Ala
NP_001394591.1:p.Pro993Ala
NP_001394592.1:p.Pro994Ala
NP_001394593.1:p.Pro979Ala
NP_001394594.1:p.Pro979Ala
NP_001394595.1:p.Pro979Ala
NP_001394596.1:p.Pro979Ala
NP_001394597.1:p.Pro979Ala
NP_001394598.1:p.Pro979Ala
NP_001394599.1:p.Pro978Ala
NP_001394600.1:p.Pro978Ala
NP_001394601.1:p.Pro978Ala
NP_001394602.1:p.Pro978Ala
NP_001394603.1:p.Pro979Ala
NP_001394604.1:p.Pro979Ala
NP_001394605.1:p.Pro979Ala
NP_001394606.1:p.Pro979Ala
NP_001394607.1:p.Pro979Ala
NP_001394608.1:p.Pro979Ala
NP_001394609.1:p.Pro979Ala
NP_001394610.1:p.Pro979Ala
NP_001394611.1:p.Pro979Ala
NP_001394612.1:p.Pro979Ala
NP_001394613.1:p.Pro1020Ala
NP_001394614.1:p.Pro978Ala
NP_001394615.1:p.Pro978Ala
NP_001394616.1:p.Pro978Ala
NP_001394617.1:p.Pro978Ala
NP_001394618.1:p.Pro978Ala
NP_001394619.1:p.Pro978Ala
NP_001394620.1:p.Pro978Ala
NP_001394621.1:p.Pro973Ala
NP_001394623.1:p.Pro973Ala
NP_001394624.1:p.Pro973Ala
NP_001394625.1:p.Pro973Ala
NP_001394626.1:p.Pro973Ala
NP_001394627.1:p.Pro973Ala
NP_001394653.1:p.Pro973Ala
NP_001394654.1:p.Pro973Ala
NP_001394655.1:p.Pro973Ala
NP_001394656.1:p.Pro973Ala
NP_001394657.1:p.Pro973Ala
NP_001394658.1:p.Pro973Ala
NP_001394659.1:p.Pro973Ala
NP_001394660.1:p.Pro973Ala
NP_001394661.1:p.Pro973Ala
NP_001394662.1:p.Pro973Ala
NP_001394663.1:p.Pro973Ala
NP_001394664.1:p.Pro973Ala
NP_001394665.1:p.Pro973Ala
NP_001394666.1:p.Pro973Ala
NP_001394667.1:p.Pro973Ala
NP_001394668.1:p.Pro973Ala
NP_001394669.1:p.Pro972Ala
NP_001394670.1:p.Pro972Ala
NP_001394671.1:p.Pro972Ala
NP_001394672.1:p.Pro972Ala
NP_001394673.1:p.Pro972Ala
NP_001394674.1:p.Pro972Ala
NP_001394675.1:p.Pro972Ala
NP_001394676.1:p.Pro972Ala
NP_001394677.1:p.Pro972Ala
NP_001394678.1:p.Pro972Ala
NP_001394679.1:p.Pro973Ala
NP_001394680.1:p.Pro973Ala
NP_001394681.1:p.Pro973Ala
NP_001394767.1:p.Pro972Ala
NP_001394768.1:p.Pro972Ala
NP_001394770.1:p.Pro972Ala
NP_001394771.1:p.Pro972Ala
NP_001394772.1:p.Pro972Ala
NP_001394773.1:p.Pro972Ala
NP_001394774.1:p.Pro972Ala
NP_001394775.1:p.Pro972Ala
NP_001394776.1:p.Pro972Ala
NP_001394777.1:p.Pro972Ala
NP_001394778.1:p.Pro972Ala
NP_001394779.1:p.Pro973Ala
NP_001394780.1:p.Pro973Ala
NP_001394781.1:p.Pro973Ala
NP_001394782.1:p.Pro949Ala
NP_001394783.1:p.Pro1020Ala
NP_001394787.1:p.Pro1020Ala
NP_001394788.1:p.Pro1020Ala
NP_001394789.1:p.Pro1019Ala
NP_001394790.1:p.Pro1019Ala
NP_001394791.1:p.Pro953Ala
NP_001394792.1:p.Pro979Ala
NP_001394803.1:p.Pro952Ala
NP_001394804.1:p.Pro952Ala
NP_001394808.1:p.Pro950Ala
NP_001394810.1:p.Pro950Ala
NP_001394811.1:p.Pro950Ala
NP_001394813.1:p.Pro950Ala
NP_001394814.1:p.Pro950Ala
NP_001394815.1:p.Pro950Ala
NP_001394816.1:p.Pro950Ala
NP_001394818.1:p.Pro950Ala
NP_001394823.1:p.Pro949Ala
NP_001394824.1:p.Pro949Ala
NP_001394825.1:p.Pro949Ala
NP_001394826.1:p.Pro949Ala
NP_001394827.1:p.Pro949Ala
NP_001394828.1:p.Pro949Ala
NP_001394829.1:p.Pro950Ala
NP_001394831.1:p.Pro950Ala
NP_001394833.1:p.Pro950Ala
NP_001394835.1:p.Pro950Ala
NP_001394836.1:p.Pro950Ala
NP_001394837.1:p.Pro950Ala
NP_001394838.1:p.Pro950Ala
NP_001394839.1:p.Pro950Ala
NP_001394844.1:p.Pro949Ala
NP_001394845.1:p.Pro949Ala
NP_001394846.1:p.Pro949Ala
NP_001394847.1:p.Pro949Ala
NP_001394848.1:p.Pro979Ala
NP_001394849.1:p.Pro932Ala
NP_001394850.1:p.Pro932Ala
NP_001394851.1:p.Pro932Ala
NP_001394852.1:p.Pro932Ala
NP_001394853.1:p.Pro932Ala
NP_001394854.1:p.Pro932Ala
NP_001394855.1:p.Pro932Ala
NP_001394856.1:p.Pro932Ala
NP_001394857.1:p.Pro932Ala
NP_001394858.1:p.Pro932Ala
NP_001394859.1:p.Pro931Ala
NP_001394860.1:p.Pro931Ala
NP_001394861.1:p.Pro931Ala
NP_001394862.1:p.Pro932Ala
NP_001394863.1:p.Pro931Ala
NP_001394864.1:p.Pro932Ala
NP_001394865.1:p.Pro931Ala
NP_001394866.1:p.Pro979Ala
NP_001394867.1:p.Pro979Ala
NP_001394868.1:p.Pro979Ala
NP_001394869.1:p.Pro978Ala
NP_001394870.1:p.Pro978Ala
NP_001394871.1:p.Pro973Ala
NP_001394872.1:p.Pro972Ala
NP_001394873.1:p.Pro973Ala
NP_001394874.1:p.Pro973Ala
NP_001394875.1:p.Pro909Ala
NP_001394876.1:p.Pro909Ala
NP_001394877.1:p.Pro909Ala
NP_001394878.1:p.Pro909Ala
NP_001394879.1:p.Pro909Ala
NP_001394880.1:p.Pro909Ala
NP_001394881.1:p.Pro909Ala
NP_001394882.1:p.Pro909Ala
NP_001394883.1:p.Pro908Ala
NP_001394884.1:p.Pro908Ala
NP_001394885.1:p.Pro908Ala
NP_001394886.1:p.Pro909Ala
NP_001394887.1:p.Pro908Ala
NP_001394888.1:p.Pro893Ala
NP_001394889.1:p.Pro893Ala
NP_001394891.1:p.Pro892Ala
NP_001394892.1:p.Pro893Ala
NP_001394893.1:p.Pro972Ala
NP_001394894.1:p.Pro852Ala
NP_001394895.1:p.Pro724Ala
NP_001394896.1:p.Pro724Ala
NP_009225.1:p.Pro1020Ala
NP_009225.1:p.Pro1020Ala
NP_009228.2:p.Pro973Ala
NP_009231.2:p.Pro1020Ala
LRG_292t1:c.3058C>G
LRG_292:g.125511C>G
LRG_292p1:p.Pro1020Ala
NC_000017.10:g.41244490G>C
NM_007294.3:c.3058C>G
NR_027676.1:n.3194C>G

Protein change:

P1017A

Molecular consequence:

NM_001407968.1:c.788-334C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-334C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1450C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1441C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3049C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3049C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.2980C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.2980C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.2980C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.2980C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.2980C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.2980C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.2977C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.2977C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.2977C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.2977C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.2980C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.2845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3055C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.2857C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.2854C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.2854C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.2845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.2845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.2845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.2845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.2845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.2845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.2848C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.2845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.2845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.2845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.2845C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.2794C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.2794C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.2794C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.2794C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.2794C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.2794C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.2794C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.2794C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.2794C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.2794C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.2791C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.2791C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.2791C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.2794C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.2791C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.2794C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.2791C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.2935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.2932C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.2725C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.2725C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.2725C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.2725C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.2725C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.2725C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.2725C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.2725C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.2722C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.2722C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.2722C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.2725C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.2722C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.2677C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.2677C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.2674C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.2677C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.2914C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.2554C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2170C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2170C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.2917C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3058C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

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PREDICTED: Oncorhynchus gorbuscha C1GALT1-specific chaperone 1-like (LOC12401168...
PREDICTED: Oncorhynchus gorbuscha C1GALT1-specific chaperone 1-like (LOC124011680), transcript variant X2, mRNA
gi|2186742675|ref|XM_046325162.1|

Nucleotide
cytosolic acyl coenzyme A thioester hydrolase isoform X1 [Bufo gargarizans]
cytosolic acyl coenzyme A thioester hydrolase isoform X1 [Bufo gargarizans]
gi|2113560735|ref|XP_044138073.1|

Protein
PREDICTED: Chelonia mydas ADP-ribosyltransferase 1 (ART1), transcript variant X2...
PREDICTED: Chelonia mydas ADP-ribosyltransferase 1 (ART1), transcript variant X2, mRNA
gi|1935033737|ref|XM_037889655.1|

Nucleotide
PREDICTED: Cucumis melo cyclin-dependent kinase C-2-like (LOC103491610), transcr...
PREDICTED: Cucumis melo cyclin-dependent kinase C-2-like (LOC103491610), transcript variant X1, mRNA
gi|2316554972|ref|XM_008451636.3|

Nucleotide
Profile neighbors for GEO Profiles (Select 67890445) (14)
GEO Profiles

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003208689	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 15, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003208689

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 15, 2022)

germline

clinical testing

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

Help

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV003208689.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1020 of the BRCA1 protein (p.Pro1020Ala).

#	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: Jul 15, 2024

ClinVar

Relating variation to medicine