NM_007294.4(BRCA1):c.84G>T (p.Leu28=) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 1, 2020
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- 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:
- RCV001254341.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.84G>T (p.Leu28=)]
NM_007294.4(BRCA1):c.84G>T (p.Leu28=)
- 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.84G>T (p.Leu28=)
- HGVS:
- NC_000017.11:g.43115776C>A
- NG_005905.2:g.102208G>T
- NM_001407571.1:c.-105G>T
- NM_001407581.1:c.84G>T
- NM_001407582.1:c.84G>T
- NM_001407583.1:c.84G>T
- NM_001407585.1:c.84G>T
- NM_001407587.1:c.84G>T
- NM_001407590.1:c.84G>T
- NM_001407591.1:c.84G>T
- NM_001407593.1:c.84G>T
- NM_001407594.1:c.84G>T
- NM_001407596.1:c.84G>T
- NM_001407597.1:c.84G>T
- NM_001407598.1:c.84G>T
- NM_001407602.1:c.84G>T
- NM_001407603.1:c.84G>T
- NM_001407605.1:c.84G>T
- NM_001407610.1:c.84G>T
- NM_001407611.1:c.84G>T
- NM_001407612.1:c.84G>T
- NM_001407613.1:c.84G>T
- NM_001407614.1:c.84G>T
- NM_001407615.1:c.84G>T
- NM_001407616.1:c.84G>T
- NM_001407617.1:c.84G>T
- NM_001407618.1:c.84G>T
- NM_001407619.1:c.84G>T
- NM_001407620.1:c.84G>T
- NM_001407621.1:c.84G>T
- NM_001407622.1:c.84G>T
- NM_001407623.1:c.84G>T
- NM_001407624.1:c.84G>T
- NM_001407625.1:c.84G>T
- NM_001407626.1:c.84G>T
- NM_001407627.1:c.84G>T
- NM_001407628.1:c.84G>T
- NM_001407629.1:c.84G>T
- NM_001407630.1:c.84G>T
- NM_001407631.1:c.84G>T
- NM_001407632.1:c.84G>T
- NM_001407633.1:c.84G>T
- NM_001407634.1:c.84G>T
- NM_001407635.1:c.84G>T
- NM_001407636.1:c.84G>T
- NM_001407637.1:c.84G>T
- NM_001407638.1:c.84G>T
- NM_001407639.1:c.84G>T
- NM_001407640.1:c.84G>T
- NM_001407641.1:c.84G>T
- NM_001407642.1:c.84G>T
- NM_001407644.1:c.84G>T
- NM_001407645.1:c.84G>T
- NM_001407646.1:c.84G>T
- NM_001407647.1:c.84G>T
- NM_001407648.1:c.84G>T
- NM_001407649.1:c.84G>T
- NM_001407652.1:c.84G>T
- NM_001407653.1:c.84G>T
- NM_001407654.1:c.84G>T
- NM_001407655.1:c.84G>T
- NM_001407656.1:c.84G>T
- NM_001407657.1:c.84G>T
- NM_001407658.1:c.84G>T
- NM_001407659.1:c.84G>T
- NM_001407660.1:c.84G>T
- NM_001407661.1:c.84G>T
- NM_001407662.1:c.84G>T
- NM_001407663.1:c.84G>T
- NM_001407664.1:c.84G>T
- NM_001407665.1:c.84G>T
- NM_001407666.1:c.84G>T
- NM_001407667.1:c.84G>T
- NM_001407668.1:c.84G>T
- NM_001407669.1:c.84G>T
- NM_001407670.1:c.84G>T
- NM_001407671.1:c.84G>T
- NM_001407672.1:c.84G>T
- NM_001407673.1:c.84G>T
- NM_001407674.1:c.84G>T
- NM_001407675.1:c.84G>T
- NM_001407676.1:c.84G>T
- NM_001407677.1:c.84G>T
- NM_001407678.1:c.84G>T
- NM_001407679.1:c.84G>T
- NM_001407680.1:c.84G>T
- NM_001407681.1:c.84G>T
- NM_001407682.1:c.84G>T
- NM_001407683.1:c.84G>T
- NM_001407684.1:c.84G>T
- NM_001407685.1:c.84G>T
- NM_001407686.1:c.84G>T
- NM_001407687.1:c.84G>T
- NM_001407688.1:c.84G>T
- NM_001407689.1:c.84G>T
- NM_001407690.1:c.84G>T
- NM_001407691.1:c.84G>T
- NM_001407692.1:c.-7-9243G>T
- NM_001407694.1:c.-174G>T
- NM_001407695.1:c.-178G>T
- NM_001407696.1:c.-174G>T
- NM_001407697.1:c.-58G>T
- NM_001407698.1:c.-8+8241G>T
- NM_001407724.1:c.-174G>T
- NM_001407725.1:c.-58G>T
- NM_001407726.1:c.-8+5782G>T
- NM_001407727.1:c.-174G>T
- NM_001407728.1:c.-58G>T
- NM_001407729.1:c.-58G>T
- NM_001407730.1:c.-58G>T
- NM_001407731.1:c.-174G>T
- NM_001407732.1:c.-8+8241G>T
- NM_001407733.1:c.-174G>T
- NM_001407734.1:c.-58G>T
- NM_001407735.1:c.-58G>T
- NM_001407736.1:c.-8+8241G>T
- NM_001407737.1:c.-58G>T
- NM_001407738.1:c.-8+8241G>T
- NM_001407739.1:c.-58G>T
- NM_001407740.1:c.-58G>T
- NM_001407741.1:c.-58G>T
- NM_001407742.1:c.-8+8241G>T
- NM_001407743.1:c.-58G>T
- NM_001407744.1:c.-8+8241G>T
- NM_001407745.1:c.-58G>T
- NM_001407746.1:c.-174G>T
- NM_001407747.1:c.-7-9243G>T
- NM_001407748.1:c.-58G>T
- NM_001407749.1:c.-174G>T
- NM_001407750.1:c.-8+8241G>T
- NM_001407751.1:c.-8+5782G>T
- NM_001407752.1:c.-58G>T
- NM_001407838.1:c.-58G>T
- NM_001407839.1:c.-58G>T
- NM_001407841.1:c.-54G>T
- NM_001407842.1:c.-174G>T
- NM_001407843.1:c.-174G>T
- NM_001407844.1:c.-58G>T
- NM_001407845.1:c.-8+8241G>T
- NM_001407846.1:c.-58G>T
- NM_001407847.1:c.-58G>T
- NM_001407848.1:c.-58G>T
- NM_001407849.1:c.-8+8241G>T
- NM_001407850.1:c.-58G>T
- NM_001407851.1:c.-58G>T
- NM_001407852.1:c.-8+8241G>T
- NM_001407853.1:c.-105G>T
- NM_001407854.1:c.84G>T
- NM_001407858.1:c.84G>T
- NM_001407859.1:c.84G>T
- NM_001407860.1:c.84G>T
- NM_001407861.1:c.84G>T
- NM_001407862.1:c.84G>T
- NM_001407863.1:c.84G>T
- NM_001407874.1:c.84G>T
- NM_001407875.1:c.84G>T
- NM_001407879.1:c.-105G>T
- NM_001407881.1:c.-55+8241G>T
- NM_001407882.1:c.-105G>T
- NM_001407884.1:c.-105G>T
- NM_001407885.1:c.-105G>T
- NM_001407886.1:c.-105G>T
- NM_001407887.1:c.-105G>T
- NM_001407889.1:c.-221G>T
- NM_001407894.1:c.-105G>T
- NM_001407895.1:c.-105G>T
- NM_001407896.1:c.-105G>T
- NM_001407897.1:c.-105G>T
- NM_001407898.1:c.-55+8241G>T
- NM_001407899.1:c.-105G>T
- NM_001407900.1:c.-221G>T
- NM_001407902.1:c.-55+8241G>T
- NM_001407904.1:c.-105G>T
- NM_001407906.1:c.-105G>T
- NM_001407907.1:c.-105G>T
- NM_001407908.1:c.-105G>T
- NM_001407909.1:c.-105G>T
- NM_001407910.1:c.-105G>T
- NM_001407915.1:c.-105G>T
- NM_001407916.1:c.-105G>T
- NM_001407917.1:c.-105G>T
- NM_001407918.1:c.-105G>T
- NM_001407919.1:c.84G>T
- NM_001407920.1:c.-58G>T
- NM_001407921.1:c.-58G>T
- NM_001407922.1:c.-58G>T
- NM_001407923.1:c.-58G>T
- NM_001407924.1:c.-8+8241G>T
- NM_001407925.1:c.-8+8241G>T
- NM_001407926.1:c.-58G>T
- NM_001407927.1:c.-58G>T
- NM_001407928.1:c.-8+8241G>T
- NM_001407929.1:c.-8+8241G>T
- NM_001407930.1:c.-174G>T
- NM_001407931.1:c.-7-9243G>T
- NM_001407932.1:c.-8+8241G>T
- NM_001407933.1:c.-58G>T
- NM_001407934.1:c.-58G>T
- NM_001407935.1:c.-58G>T
- NM_001407936.1:c.-8+8241G>T
- NM_001407937.1:c.84G>T
- NM_001407938.1:c.84G>T
- NM_001407939.1:c.84G>T
- NM_001407940.1:c.84G>T
- NM_001407941.1:c.84G>T
- NM_001407942.1:c.-174G>T
- NM_001407943.1:c.-58G>T
- NM_001407944.1:c.-58G>T
- NM_001407945.1:c.-8+8241G>T
- NM_001407946.1:c.-105G>T
- NM_001407947.1:c.-105G>T
- NM_001407948.1:c.-105G>T
- NM_001407949.1:c.-105G>T
- NM_001407950.1:c.-105G>T
- NM_001407951.1:c.-105G>T
- NM_001407952.1:c.-105G>T
- NM_001407953.1:c.-105G>T
- NM_001407954.1:c.-105G>T
- NM_001407955.1:c.-105G>T
- NM_001407956.1:c.-105G>T
- NM_001407957.1:c.-105G>T
- NM_001407958.1:c.-105G>T
- NM_001407959.1:c.-170+9501G>T
- NM_001407960.1:c.-220G>T
- NM_001407962.1:c.-220G>T
- NM_001407963.1:c.-170+9495G>T
- NM_001407964.1:c.-58G>T
- NM_001407965.1:c.-336G>T
- NM_001407966.1:c.-219+9495G>T
- NM_001407967.1:c.-219+9501G>T
- NM_001407968.1:c.84G>T
- NM_001407969.1:c.84G>T
- NM_001407970.1:c.84G>T
- NM_001407971.1:c.84G>T
- NM_001407972.1:c.84G>T
- NM_001407973.1:c.84G>T
- NM_001407974.1:c.84G>T
- NM_001407975.1:c.84G>T
- NM_001407976.1:c.84G>T
- NM_001407977.1:c.84G>T
- NM_001407978.1:c.84G>T
- NM_001407979.1:c.84G>T
- NM_001407980.1:c.84G>T
- NM_001407981.1:c.84G>T
- NM_001407982.1:c.84G>T
- NM_001407983.1:c.84G>T
- NM_001407984.1:c.84G>T
- NM_001407985.1:c.84G>T
- NM_001407986.1:c.84G>T
- NM_001407990.1:c.84G>T
- NM_001407991.1:c.84G>T
- NM_001407992.1:c.84G>T
- NM_001407993.1:c.84G>T
- NM_001408392.1:c.84G>T
- NM_001408396.1:c.84G>T
- NM_001408397.1:c.84G>T
- NM_001408398.1:c.84G>T
- NM_001408399.1:c.84G>T
- NM_001408400.1:c.84G>T
- NM_001408401.1:c.84G>T
- NM_001408402.1:c.84G>T
- NM_001408403.1:c.84G>T
- NM_001408404.1:c.84G>T
- NM_001408406.1:c.84G>T
- NM_001408407.1:c.84G>T
- NM_001408408.1:c.84G>T
- NM_001408409.1:c.84G>T
- NM_001408410.1:c.-58G>T
- NM_001408411.1:c.84G>T
- NM_001408412.1:c.84G>T
- NM_001408413.1:c.84G>T
- NM_001408414.1:c.84G>T
- NM_001408415.1:c.84G>T
- NM_001408416.1:c.84G>T
- NM_001408418.1:c.84G>T
- NM_001408419.1:c.84G>T
- NM_001408420.1:c.84G>T
- NM_001408421.1:c.84G>T
- NM_001408422.1:c.84G>T
- NM_001408423.1:c.84G>T
- NM_001408424.1:c.84G>T
- NM_001408425.1:c.84G>T
- NM_001408426.1:c.84G>T
- NM_001408427.1:c.84G>T
- NM_001408428.1:c.84G>T
- NM_001408429.1:c.84G>T
- NM_001408430.1:c.84G>T
- NM_001408431.1:c.84G>T
- NM_001408432.1:c.84G>T
- NM_001408433.1:c.84G>T
- NM_001408434.1:c.84G>T
- NM_001408435.1:c.84G>T
- NM_001408436.1:c.84G>T
- NM_001408437.1:c.84G>T
- NM_001408438.1:c.84G>T
- NM_001408439.1:c.84G>T
- NM_001408440.1:c.84G>T
- NM_001408441.1:c.84G>T
- NM_001408442.1:c.84G>T
- NM_001408443.1:c.84G>T
- NM_001408444.1:c.84G>T
- NM_001408445.1:c.84G>T
- NM_001408446.1:c.84G>T
- NM_001408447.1:c.84G>T
- NM_001408448.1:c.84G>T
- NM_001408450.1:c.84G>T
- NM_001408451.1:c.80+8241G>T
- NM_001408452.1:c.-58G>T
- NM_001408453.1:c.-58G>T
- NM_001408454.1:c.-8+8241G>T
- NM_001408455.1:c.-174G>T
- NM_001408456.1:c.-174G>T
- NM_001408457.1:c.-7-9243G>T
- NM_001408458.1:c.-58G>T
- NM_001408459.1:c.-8+8241G>T
- NM_001408460.1:c.-8+8241G>T
- NM_001408461.1:c.-8+8241G>T
- NM_001408462.1:c.-58G>T
- NM_001408463.1:c.-58G>T
- NM_001408464.1:c.-8+8241G>T
- NM_001408465.1:c.-178G>T
- NM_001408466.1:c.-58G>T
- NM_001408467.1:c.-8+8241G>T
- NM_001408468.1:c.-174G>T
- NM_001408469.1:c.-58G>T
- NM_001408470.1:c.-58G>T
- NM_001408472.1:c.84G>T
- NM_001408473.1:c.84G>T
- NM_001408474.1:c.84G>T
- NM_001408475.1:c.84G>T
- NM_001408476.1:c.84G>T
- NM_001408478.1:c.-105G>T
- NM_001408479.1:c.-105G>T
- NM_001408480.1:c.-105G>T
- NM_001408481.1:c.-105G>T
- NM_001408482.1:c.-105G>T
- NM_001408483.1:c.-105G>T
- NM_001408484.1:c.-105G>T
- NM_001408485.1:c.-105G>T
- NM_001408489.1:c.-105G>T
- NM_001408490.1:c.-105G>T
- NM_001408491.1:c.-105G>T
- NM_001408492.1:c.-221G>T
- NM_001408493.1:c.-105G>T
- NM_001408494.1:c.84G>T
- NM_001408495.1:c.84G>T
- NM_001408496.1:c.-8+8241G>T
- NM_001408497.1:c.-58G>T
- NM_001408498.1:c.-8+8241G>T
- NM_001408499.1:c.-58G>T
- NM_001408500.1:c.-58G>T
- NM_001408501.1:c.-174G>T
- NM_001408502.1:c.-105G>T
- NM_001408503.1:c.-58G>T
- NM_001408504.1:c.-58G>T
- NM_001408505.1:c.-58G>T
- NM_001408506.1:c.-105G>T
- NM_001408507.1:c.-105G>T
- NM_001408508.1:c.-105G>T
- NM_001408509.1:c.-105G>T
- NM_001408510.1:c.-220G>T
- NM_001408511.1:c.-7-9243G>T
- NM_001408512.1:c.-220G>T
- NM_001408513.1:c.-105G>T
- NM_001408514.1:c.-105G>T
- NM_007294.4:c.84G>TMANE SELECT
- NM_007297.4:c.-8+8241G>T
- NM_007298.4:c.84G>T
- NM_007299.4:c.84G>T
- NM_007300.4:c.84G>T
- NM_007304.2:c.84G>T
- NP_001394510.1:p.Leu28=
- NP_001394511.1:p.Leu28=
- NP_001394512.1:p.Leu28=
- NP_001394514.1:p.Leu28=
- NP_001394516.1:p.Leu28=
- NP_001394519.1:p.Leu28=
- NP_001394520.1:p.Leu28=
- NP_001394522.1:p.Leu28=
- NP_001394523.1:p.Leu28=
- NP_001394525.1:p.Leu28=
- NP_001394526.1:p.Leu28=
- NP_001394527.1:p.Leu28=
- NP_001394531.1:p.Leu28=
- NP_001394532.1:p.Leu28=
- NP_001394534.1:p.Leu28=
- NP_001394539.1:p.Leu28=
- NP_001394540.1:p.Leu28=
- NP_001394541.1:p.Leu28=
- NP_001394542.1:p.Leu28=
- NP_001394543.1:p.Leu28=
- NP_001394544.1:p.Leu28=
- NP_001394545.1:p.Leu28=
- NP_001394546.1:p.Leu28=
- NP_001394547.1:p.Leu28=
- NP_001394548.1:p.Leu28=
- NP_001394549.1:p.Leu28=
- NP_001394550.1:p.Leu28=
- NP_001394551.1:p.Leu28=
- NP_001394552.1:p.Leu28=
- NP_001394553.1:p.Leu28=
- NP_001394554.1:p.Leu28=
- NP_001394555.1:p.Leu28=
- NP_001394556.1:p.Leu28=
- NP_001394557.1:p.Leu28=
- NP_001394558.1:p.Leu28=
- NP_001394559.1:p.Leu28=
- NP_001394560.1:p.Leu28=
- NP_001394561.1:p.Leu28=
- NP_001394562.1:p.Leu28=
- NP_001394563.1:p.Leu28=
- NP_001394564.1:p.Leu28=
- NP_001394565.1:p.Leu28=
- NP_001394566.1:p.Leu28=
- NP_001394567.1:p.Leu28=
- NP_001394568.1:p.Leu28=
- NP_001394569.1:p.Leu28=
- NP_001394570.1:p.Leu28=
- NP_001394571.1:p.Leu28=
- NP_001394573.1:p.Leu28=
- NP_001394574.1:p.Leu28=
- NP_001394575.1:p.Leu28=
- NP_001394576.1:p.Leu28=
- NP_001394577.1:p.Leu28=
- NP_001394578.1:p.Leu28=
- NP_001394581.1:p.Leu28=
- NP_001394582.1:p.Leu28=
- NP_001394583.1:p.Leu28=
- NP_001394584.1:p.Leu28=
- NP_001394585.1:p.Leu28=
- NP_001394586.1:p.Leu28=
- NP_001394587.1:p.Leu28=
- NP_001394588.1:p.Leu28=
- NP_001394589.1:p.Leu28=
- NP_001394590.1:p.Leu28=
- NP_001394591.1:p.Leu28=
- NP_001394592.1:p.Leu28=
- NP_001394593.1:p.Leu28=
- NP_001394594.1:p.Leu28=
- NP_001394595.1:p.Leu28=
- NP_001394596.1:p.Leu28=
- NP_001394597.1:p.Leu28=
- NP_001394598.1:p.Leu28=
- NP_001394599.1:p.Leu28=
- NP_001394600.1:p.Leu28=
- NP_001394601.1:p.Leu28=
- NP_001394602.1:p.Leu28=
- NP_001394603.1:p.Leu28=
- NP_001394604.1:p.Leu28=
- NP_001394605.1:p.Leu28=
- NP_001394606.1:p.Leu28=
- NP_001394607.1:p.Leu28=
- NP_001394608.1:p.Leu28=
- NP_001394609.1:p.Leu28=
- NP_001394610.1:p.Leu28=
- NP_001394611.1:p.Leu28=
- NP_001394612.1:p.Leu28=
- NP_001394613.1:p.Leu28=
- NP_001394614.1:p.Leu28=
- NP_001394615.1:p.Leu28=
- NP_001394616.1:p.Leu28=
- NP_001394617.1:p.Leu28=
- NP_001394618.1:p.Leu28=
- NP_001394619.1:p.Leu28=
- NP_001394620.1:p.Leu28=
- NP_001394783.1:p.Leu28=
- NP_001394787.1:p.Leu28=
- NP_001394788.1:p.Leu28=
- NP_001394789.1:p.Leu28=
- NP_001394790.1:p.Leu28=
- NP_001394791.1:p.Leu28=
- NP_001394792.1:p.Leu28=
- NP_001394803.1:p.Leu28=
- NP_001394804.1:p.Leu28=
- NP_001394848.1:p.Leu28=
- NP_001394866.1:p.Leu28=
- NP_001394867.1:p.Leu28=
- NP_001394868.1:p.Leu28=
- NP_001394869.1:p.Leu28=
- NP_001394870.1:p.Leu28=
- NP_001394897.1:p.Leu28=
- NP_001394898.1:p.Leu28=
- NP_001394899.1:p.Leu28=
- NP_001394900.1:p.Leu28=
- NP_001394901.1:p.Leu28=
- NP_001394902.1:p.Leu28=
- NP_001394903.1:p.Leu28=
- NP_001394904.1:p.Leu28=
- NP_001394905.1:p.Leu28=
- NP_001394906.1:p.Leu28=
- NP_001394907.1:p.Leu28=
- NP_001394908.1:p.Leu28=
- NP_001394909.1:p.Leu28=
- NP_001394910.1:p.Leu28=
- NP_001394911.1:p.Leu28=
- NP_001394912.1:p.Leu28=
- NP_001394913.1:p.Leu28=
- NP_001394914.1:p.Leu28=
- NP_001394915.1:p.Leu28=
- NP_001394919.1:p.Leu28=
- NP_001394920.1:p.Leu28=
- NP_001394921.1:p.Leu28=
- NP_001394922.1:p.Leu28=
- NP_001395321.1:p.Leu28=
- NP_001395325.1:p.Leu28=
- NP_001395326.1:p.Leu28=
- NP_001395327.1:p.Leu28=
- NP_001395328.1:p.Leu28=
- NP_001395329.1:p.Leu28=
- NP_001395330.1:p.Leu28=
- NP_001395331.1:p.Leu28=
- NP_001395332.1:p.Leu28=
- NP_001395333.1:p.Leu28=
- NP_001395335.1:p.Leu28=
- NP_001395336.1:p.Leu28=
- NP_001395337.1:p.Leu28=
- NP_001395338.1:p.Leu28=
- NP_001395340.1:p.Leu28=
- NP_001395341.1:p.Leu28=
- NP_001395342.1:p.Leu28=
- NP_001395343.1:p.Leu28=
- NP_001395344.1:p.Leu28=
- NP_001395345.1:p.Leu28=
- NP_001395347.1:p.Leu28=
- NP_001395348.1:p.Leu28=
- NP_001395349.1:p.Leu28=
- NP_001395350.1:p.Leu28=
- NP_001395351.1:p.Leu28=
- NP_001395352.1:p.Leu28=
- NP_001395353.1:p.Leu28=
- NP_001395354.1:p.Leu28=
- NP_001395355.1:p.Leu28=
- NP_001395356.1:p.Leu28=
- NP_001395357.1:p.Leu28=
- NP_001395358.1:p.Leu28=
- NP_001395359.1:p.Leu28=
- NP_001395360.1:p.Leu28=
- NP_001395361.1:p.Leu28=
- NP_001395362.1:p.Leu28=
- NP_001395363.1:p.Leu28=
- NP_001395364.1:p.Leu28=
- NP_001395365.1:p.Leu28=
- NP_001395366.1:p.Leu28=
- NP_001395367.1:p.Leu28=
- NP_001395368.1:p.Leu28=
- NP_001395369.1:p.Leu28=
- NP_001395370.1:p.Leu28=
- NP_001395371.1:p.Leu28=
- NP_001395372.1:p.Leu28=
- NP_001395373.1:p.Leu28=
- NP_001395374.1:p.Leu28=
- NP_001395375.1:p.Leu28=
- NP_001395376.1:p.Leu28=
- NP_001395377.1:p.Leu28=
- NP_001395379.1:p.Leu28=
- NP_001395401.1:p.Leu28=
- NP_001395402.1:p.Leu28=
- NP_001395403.1:p.Leu28=
- NP_001395404.1:p.Leu28=
- NP_001395405.1:p.Leu28=
- NP_001395423.1:p.Leu28=
- NP_001395424.1:p.Leu28=
- NP_009225.1:p.Leu28=
- NP_009225.1:p.Leu28=
- NP_009229.2:p.Leu28=
- NP_009230.2:p.Leu28=
- NP_009231.2:p.Leu28=
- NP_009235.2:p.Leu28=
- LRG_292t1:c.84G>T
- LRG_292:g.102208G>T
- LRG_292p1:p.Leu28=
- NC_000017.10:g.41267793C>A
- NM_007294.3:c.84G>T
- NR_027676.2:n.286G>T
This HGVS expression did not pass validation- Links:
- dbSNP: rs1555599278
- NCBI 1000 Genomes Browser:
- rs1555599278
- Molecular consequence:
- NM_001407571.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407694.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407695.1:c.-178G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407696.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407697.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407724.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407725.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407727.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407728.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407729.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407730.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407731.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407733.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407734.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407735.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407737.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407739.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407740.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407741.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407743.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407745.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407746.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407748.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407749.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407752.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407838.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407839.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407841.1:c.-54G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407842.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407843.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407844.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407846.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407847.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407848.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407850.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407851.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407853.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407879.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407882.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407884.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407885.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407886.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407887.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407889.1:c.-221G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407894.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407895.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407896.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407897.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407899.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407900.1:c.-221G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407904.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407906.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407907.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407908.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407909.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407910.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407915.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407916.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407917.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407918.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407920.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407921.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407922.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407923.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407926.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407927.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407930.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407933.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407934.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407935.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407942.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407943.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407944.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407946.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407947.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407948.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407949.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407950.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407951.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407952.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407953.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407954.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407955.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407956.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407957.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407958.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407960.1:c.-220G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407962.1:c.-220G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407964.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407965.1:c.-336G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408410.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408452.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408453.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408455.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408456.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408458.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408462.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408463.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408465.1:c.-178G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408466.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408468.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408469.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408470.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408478.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408479.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408480.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408481.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408482.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408483.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408484.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408485.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408489.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408490.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408491.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408492.1:c.-221G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408493.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408497.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408499.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408500.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408501.1:c.-174G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408502.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408503.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408504.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408505.1:c.-58G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408506.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408507.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408508.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408509.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408510.1:c.-220G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408512.1:c.-220G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408513.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001408514.1:c.-105G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001407692.1:c.-7-9243G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407698.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407726.1:c.-8+5782G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407732.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407736.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407738.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407742.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407744.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407747.1:c.-7-9243G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407750.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407751.1:c.-8+5782G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407845.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407849.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407852.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407881.1:c.-55+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407898.1:c.-55+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407902.1:c.-55+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407924.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407925.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407928.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407929.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407931.1:c.-7-9243G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407932.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407936.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407945.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407959.1:c.-170+9501G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407963.1:c.-170+9495G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407966.1:c.-219+9495G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407967.1:c.-219+9501G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.80+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.-7-9243G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.-7-9243G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007297.4:c.-8+8241G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407582.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407583.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407585.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407587.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407590.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407591.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407593.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407594.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407596.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407597.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407598.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407602.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407603.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407605.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407610.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407611.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407612.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407613.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407614.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407615.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407616.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407617.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407618.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407619.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407620.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407621.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407622.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407623.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407624.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407625.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407626.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407627.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407628.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407629.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407630.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407631.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407632.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407633.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407634.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407635.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407636.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407637.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407638.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407639.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407640.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407641.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407642.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407644.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407645.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407646.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407647.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407648.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407649.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407652.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407653.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407654.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407655.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407656.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407657.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407658.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407659.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407660.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407661.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407662.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407663.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407664.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407665.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407666.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407667.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407668.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407669.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407670.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407671.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407672.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407673.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407674.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407675.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407676.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407677.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407678.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407679.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407680.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407681.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407682.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407683.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407684.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407685.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407686.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407687.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407688.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407689.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407690.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407691.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407854.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407858.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407859.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407860.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407861.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407862.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407863.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407874.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407875.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407919.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407937.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407938.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407939.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407940.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407941.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407968.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407969.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407970.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407971.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407972.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407973.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407974.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407975.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407976.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407977.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407978.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407979.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407980.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407981.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407982.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407983.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407984.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407985.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407986.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407990.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407991.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407992.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407993.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408392.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408396.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408397.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408398.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408399.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408400.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408401.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408402.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408403.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408404.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408406.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408407.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408408.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408409.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408411.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408412.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408413.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408414.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408415.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408416.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408418.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408419.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408420.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408421.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408422.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408423.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408424.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408425.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408426.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408427.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408428.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408429.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408430.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408431.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408432.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408433.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408434.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408435.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408436.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408437.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408438.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408439.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408440.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408441.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408442.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408443.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408444.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408445.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408446.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408447.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408448.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408450.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408472.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408473.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408474.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408475.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408476.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408494.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408495.1:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007294.4:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007298.4:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007299.4:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007300.4:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007304.2:c.84G>T - synonymous variant - [Sequence Ontology: SO:0001819]
- Functional consequence:
- functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.84G>T, a SYNONYMOUS variant, produced a function score of -0.41, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
- Observations:
- 1
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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001430327 | Breast Center, Key Laboratory of Carcinogenesis and Translational Research | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (May 1, 2020) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
Chinese | germline | unknown | 1 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.
Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.
PubMed [citation]
- PMID:
- 30209399
- PMCID:
- PMC6181777
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.
PubMed [citation]
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From Breast Center, Key Laboratory of Carcinogenesis and Translational Research, SCV001430327.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | Chinese | 1 | not provided | not provided | clinical testing | PubMed (2) |
# | 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 | 1 | not provided | not provided | not provided |
Last Updated: Jul 15, 2024