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NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 3, 2023
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:
RCV001344408.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr)]

NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr)

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.4199T>C (p.Met1400Thr)
HGVS:
  • NC_000017.11:g.43082562A>G
  • NG_005905.2:g.135422T>C
  • NM_001407571.1:c.3986T>C
  • NM_001407581.1:c.4199T>C
  • NM_001407582.1:c.4199T>C
  • NM_001407583.1:c.4199T>C
  • NM_001407585.1:c.4199T>C
  • NM_001407587.1:c.4196T>C
  • NM_001407590.1:c.4196T>C
  • NM_001407591.1:c.4196T>C
  • NM_001407593.1:c.4199T>C
  • NM_001407594.1:c.4199T>C
  • NM_001407596.1:c.4199T>C
  • NM_001407597.1:c.4199T>C
  • NM_001407598.1:c.4199T>C
  • NM_001407602.1:c.4199T>C
  • NM_001407603.1:c.4199T>C
  • NM_001407605.1:c.4199T>C
  • NM_001407610.1:c.4196T>C
  • NM_001407611.1:c.4196T>C
  • NM_001407612.1:c.4196T>C
  • NM_001407613.1:c.4196T>C
  • NM_001407614.1:c.4196T>C
  • NM_001407615.1:c.4196T>C
  • NM_001407616.1:c.4199T>C
  • NM_001407617.1:c.4199T>C
  • NM_001407618.1:c.4199T>C
  • NM_001407619.1:c.4199T>C
  • NM_001407620.1:c.4199T>C
  • NM_001407621.1:c.4199T>C
  • NM_001407622.1:c.4199T>C
  • NM_001407623.1:c.4199T>C
  • NM_001407624.1:c.4196T>C
  • NM_001407625.1:c.4196T>C
  • NM_001407626.1:c.4196T>C
  • NM_001407627.1:c.4193T>C
  • NM_001407628.1:c.4193T>C
  • NM_001407629.1:c.4193T>C
  • NM_001407630.1:c.4193T>C
  • NM_001407631.1:c.4193T>C
  • NM_001407632.1:c.4193T>C
  • NM_001407633.1:c.4196T>C
  • NM_001407634.1:c.4196T>C
  • NM_001407635.1:c.4196T>C
  • NM_001407636.1:c.4196T>C
  • NM_001407637.1:c.4196T>C
  • NM_001407638.1:c.4196T>C
  • NM_001407639.1:c.4196T>C
  • NM_001407640.1:c.4196T>C
  • NM_001407641.1:c.4196T>C
  • NM_001407642.1:c.4196T>C
  • NM_001407644.1:c.4193T>C
  • NM_001407645.1:c.4193T>C
  • NM_001407646.1:c.4187T>C
  • NM_001407647.1:c.4187T>C
  • NM_001407648.1:c.4076T>C
  • NM_001407649.1:c.4073T>C
  • NM_001407652.1:c.4199T>C
  • NM_001407653.1:c.4121T>C
  • NM_001407654.1:c.4121T>C
  • NM_001407655.1:c.4121T>C
  • NM_001407656.1:c.4118T>C
  • NM_001407657.1:c.4121T>C
  • NM_001407658.1:c.4121T>C
  • NM_001407659.1:c.4115T>C
  • NM_001407660.1:c.4115T>C
  • NM_001407661.1:c.4118T>C
  • NM_001407662.1:c.4118T>C
  • NM_001407663.1:c.4118T>C
  • NM_001407664.1:c.4076T>C
  • NM_001407665.1:c.4076T>C
  • NM_001407666.1:c.4076T>C
  • NM_001407667.1:c.4076T>C
  • NM_001407668.1:c.4076T>C
  • NM_001407669.1:c.4076T>C
  • NM_001407670.1:c.4073T>C
  • NM_001407671.1:c.4073T>C
  • NM_001407672.1:c.4073T>C
  • NM_001407673.1:c.4073T>C
  • NM_001407674.1:c.4073T>C
  • NM_001407675.1:c.4073T>C
  • NM_001407676.1:c.4073T>C
  • NM_001407677.1:c.4076T>C
  • NM_001407678.1:c.4076T>C
  • NM_001407679.1:c.4076T>C
  • NM_001407680.1:c.4076T>C
  • NM_001407681.1:c.4073T>C
  • NM_001407682.1:c.4073T>C
  • NM_001407683.1:c.4073T>C
  • NM_001407684.1:c.4199T>C
  • NM_001407685.1:c.4070T>C
  • NM_001407686.1:c.4070T>C
  • NM_001407687.1:c.4070T>C
  • NM_001407688.1:c.4073T>C
  • NM_001407689.1:c.4073T>C
  • NM_001407690.1:c.4070T>C
  • NM_001407691.1:c.4070T>C
  • NM_001407692.1:c.4058T>C
  • NM_001407694.1:c.4058T>C
  • NM_001407695.1:c.4058T>C
  • NM_001407696.1:c.4058T>C
  • NM_001407697.1:c.4058T>C
  • NM_001407698.1:c.4058T>C
  • NM_001407724.1:c.4058T>C
  • NM_001407725.1:c.4058T>C
  • NM_001407726.1:c.4058T>C
  • NM_001407727.1:c.4058T>C
  • NM_001407728.1:c.4058T>C
  • NM_001407729.1:c.4058T>C
  • NM_001407730.1:c.4058T>C
  • NM_001407731.1:c.4058T>C
  • NM_001407732.1:c.4058T>C
  • NM_001407733.1:c.4058T>C
  • NM_001407734.1:c.4058T>C
  • NM_001407735.1:c.4058T>C
  • NM_001407736.1:c.4058T>C
  • NM_001407737.1:c.4058T>C
  • NM_001407738.1:c.4058T>C
  • NM_001407739.1:c.4058T>C
  • NM_001407740.1:c.4055T>C
  • NM_001407741.1:c.4055T>C
  • NM_001407742.1:c.4055T>C
  • NM_001407743.1:c.4055T>C
  • NM_001407744.1:c.4055T>C
  • NM_001407745.1:c.4055T>C
  • NM_001407746.1:c.4055T>C
  • NM_001407747.1:c.4055T>C
  • NM_001407748.1:c.4055T>C
  • NM_001407749.1:c.4055T>C
  • NM_001407750.1:c.4055T>C
  • NM_001407751.1:c.4055T>C
  • NM_001407752.1:c.4055T>C
  • NM_001407838.1:c.4055T>C
  • NM_001407839.1:c.4055T>C
  • NM_001407841.1:c.4055T>C
  • NM_001407842.1:c.4055T>C
  • NM_001407843.1:c.4055T>C
  • NM_001407844.1:c.4055T>C
  • NM_001407845.1:c.4055T>C
  • NM_001407846.1:c.4055T>C
  • NM_001407847.1:c.4052T>C
  • NM_001407848.1:c.4052T>C
  • NM_001407849.1:c.4052T>C
  • NM_001407850.1:c.4055T>C
  • NM_001407851.1:c.4055T>C
  • NM_001407852.1:c.4055T>C
  • NM_001407853.1:c.3986T>C
  • NM_001407854.1:c.4199T>C
  • NM_001407858.1:c.4199T>C
  • NM_001407859.1:c.4199T>C
  • NM_001407860.1:c.4196T>C
  • NM_001407861.1:c.4196T>C
  • NM_001407862.1:c.3998T>C
  • NM_001407863.1:c.4076T>C
  • NM_001407874.1:c.3995T>C
  • NM_001407875.1:c.3995T>C
  • NM_001407879.1:c.3989T>C
  • NM_001407881.1:c.3989T>C
  • NM_001407882.1:c.3989T>C
  • NM_001407884.1:c.3989T>C
  • NM_001407885.1:c.3989T>C
  • NM_001407886.1:c.3989T>C
  • NM_001407887.1:c.3989T>C
  • NM_001407889.1:c.3989T>C
  • NM_001407894.1:c.3986T>C
  • NM_001407895.1:c.3986T>C
  • NM_001407896.1:c.3986T>C
  • NM_001407897.1:c.3986T>C
  • NM_001407898.1:c.3986T>C
  • NM_001407899.1:c.3986T>C
  • NM_001407900.1:c.3989T>C
  • NM_001407902.1:c.3989T>C
  • NM_001407904.1:c.3989T>C
  • NM_001407906.1:c.3989T>C
  • NM_001407907.1:c.3986T>C
  • NM_001407908.1:c.3986T>C
  • NM_001407909.1:c.3986T>C
  • NM_001407910.1:c.3986T>C
  • NM_001407915.1:c.3983T>C
  • NM_001407916.1:c.3986T>C
  • NM_001407917.1:c.3986T>C
  • NM_001407918.1:c.3986T>C
  • NM_001407919.1:c.4076T>C
  • NM_001407920.1:c.3935T>C
  • NM_001407921.1:c.3935T>C
  • NM_001407922.1:c.3935T>C
  • NM_001407923.1:c.3935T>C
  • NM_001407924.1:c.3935T>C
  • NM_001407925.1:c.3935T>C
  • NM_001407926.1:c.3935T>C
  • NM_001407927.1:c.3935T>C
  • NM_001407928.1:c.3935T>C
  • NM_001407929.1:c.3935T>C
  • NM_001407930.1:c.3932T>C
  • NM_001407931.1:c.3932T>C
  • NM_001407932.1:c.3932T>C
  • NM_001407933.1:c.3932T>C
  • NM_001407934.1:c.3929T>C
  • NM_001407935.1:c.3932T>C
  • NM_001407936.1:c.3932T>C
  • NM_001407937.1:c.4076T>C
  • NM_001407938.1:c.4076T>C
  • NM_001407939.1:c.4076T>C
  • NM_001407940.1:c.4073T>C
  • NM_001407941.1:c.4073T>C
  • NM_001407942.1:c.4058T>C
  • NM_001407943.1:c.4055T>C
  • NM_001407944.1:c.4058T>C
  • NM_001407945.1:c.4058T>C
  • NM_001407946.1:c.3866T>C
  • NM_001407947.1:c.3866T>C
  • NM_001407948.1:c.3866T>C
  • NM_001407949.1:c.3866T>C
  • NM_001407950.1:c.3866T>C
  • NM_001407951.1:c.3866T>C
  • NM_001407952.1:c.3863T>C
  • NM_001407953.1:c.3863T>C
  • NM_001407954.1:c.3863T>C
  • NM_001407955.1:c.3863T>C
  • NM_001407956.1:c.3860T>C
  • NM_001407957.1:c.3863T>C
  • NM_001407958.1:c.3863T>C
  • NM_001407959.1:c.3818T>C
  • NM_001407960.1:c.3818T>C
  • NM_001407962.1:c.3815T>C
  • NM_001407963.1:c.3815T>C
  • NM_001407964.1:c.4055T>C
  • NM_001407965.1:c.3692T>C
  • NM_001407966.1:c.3311T>C
  • NM_001407967.1:c.3311T>C
  • NM_001407968.1:c.1595T>C
  • NM_001407969.1:c.1592T>C
  • NM_001407970.1:c.890T>C
  • NM_001407971.1:c.890T>C
  • NM_001407972.1:c.887T>C
  • NM_001407973.1:c.890T>C
  • NM_001407974.1:c.890T>C
  • NM_001407975.1:c.890T>C
  • NM_001407976.1:c.890T>C
  • NM_001407977.1:c.890T>C
  • NM_001407978.1:c.890T>C
  • NM_001407979.1:c.887T>C
  • NM_001407980.1:c.887T>C
  • NM_001407981.1:c.887T>C
  • NM_001407982.1:c.887T>C
  • NM_001407983.1:c.887T>C
  • NM_001407984.1:c.887T>C
  • NM_001407985.1:c.887T>C
  • NM_001407986.1:c.887T>C
  • NM_001407990.1:c.887T>C
  • NM_001407991.1:c.887T>C
  • NM_001407992.1:c.887T>C
  • NM_001407993.1:c.890T>C
  • NM_001408392.1:c.887T>C
  • NM_001408396.1:c.887T>C
  • NM_001408397.1:c.887T>C
  • NM_001408398.1:c.887T>C
  • NM_001408399.1:c.887T>C
  • NM_001408400.1:c.884T>C
  • NM_001408401.1:c.884T>C
  • NM_001408402.1:c.884T>C
  • NM_001408403.1:c.887T>C
  • NM_001408404.1:c.887T>C
  • NM_001408406.1:c.881T>C
  • NM_001408407.1:c.884T>C
  • NM_001408408.1:c.881T>C
  • NM_001408409.1:c.812T>C
  • NM_001408410.1:c.749T>C
  • NM_001408411.1:c.812T>C
  • NM_001408412.1:c.812T>C
  • NM_001408413.1:c.809T>C
  • NM_001408414.1:c.812T>C
  • NM_001408415.1:c.812T>C
  • NM_001408416.1:c.809T>C
  • NM_001408418.1:c.773T>C
  • NM_001408419.1:c.773T>C
  • NM_001408420.1:c.773T>C
  • NM_001408421.1:c.770T>C
  • NM_001408422.1:c.773T>C
  • NM_001408423.1:c.773T>C
  • NM_001408424.1:c.770T>C
  • NM_001408425.1:c.767T>C
  • NM_001408426.1:c.767T>C
  • NM_001408427.1:c.767T>C
  • NM_001408428.1:c.767T>C
  • NM_001408429.1:c.767T>C
  • NM_001408430.1:c.767T>C
  • NM_001408431.1:c.770T>C
  • NM_001408432.1:c.764T>C
  • NM_001408433.1:c.764T>C
  • NM_001408434.1:c.764T>C
  • NM_001408435.1:c.764T>C
  • NM_001408436.1:c.767T>C
  • NM_001408437.1:c.767T>C
  • NM_001408438.1:c.767T>C
  • NM_001408439.1:c.767T>C
  • NM_001408440.1:c.767T>C
  • NM_001408441.1:c.764T>C
  • NM_001408442.1:c.764T>C
  • NM_001408443.1:c.764T>C
  • NM_001408444.1:c.764T>C
  • NM_001408445.1:c.764T>C
  • NM_001408446.1:c.764T>C
  • NM_001408447.1:c.764T>C
  • NM_001408448.1:c.764T>C
  • NM_001408450.1:c.764T>C
  • NM_001408451.1:c.755T>C
  • NM_001408452.1:c.749T>C
  • NM_001408453.1:c.749T>C
  • NM_001408454.1:c.749T>C
  • NM_001408455.1:c.749T>C
  • NM_001408456.1:c.749T>C
  • NM_001408457.1:c.749T>C
  • NM_001408458.1:c.749T>C
  • NM_001408459.1:c.749T>C
  • NM_001408460.1:c.749T>C
  • NM_001408461.1:c.749T>C
  • NM_001408462.1:c.746T>C
  • NM_001408463.1:c.746T>C
  • NM_001408464.1:c.746T>C
  • NM_001408465.1:c.746T>C
  • NM_001408466.1:c.746T>C
  • NM_001408467.1:c.746T>C
  • NM_001408468.1:c.746T>C
  • NM_001408469.1:c.746T>C
  • NM_001408470.1:c.743T>C
  • NM_001408472.1:c.887T>C
  • NM_001408473.1:c.887T>C
  • NM_001408474.1:c.689T>C
  • NM_001408475.1:c.686T>C
  • NM_001408476.1:c.689T>C
  • NM_001408478.1:c.680T>C
  • NM_001408479.1:c.680T>C
  • NM_001408480.1:c.680T>C
  • NM_001408481.1:c.680T>C
  • NM_001408482.1:c.680T>C
  • NM_001408483.1:c.680T>C
  • NM_001408484.1:c.680T>C
  • NM_001408485.1:c.680T>C
  • NM_001408489.1:c.677T>C
  • NM_001408490.1:c.677T>C
  • NM_001408491.1:c.677T>C
  • NM_001408492.1:c.677T>C
  • NM_001408493.1:c.677T>C
  • NM_001408494.1:c.650T>C
  • NM_001408495.1:c.647T>C
  • NM_001408496.1:c.626T>C
  • NM_001408497.1:c.626T>C
  • NM_001408498.1:c.626T>C
  • NM_001408499.1:c.626T>C
  • NM_001408500.1:c.626T>C
  • NM_001408501.1:c.626T>C
  • NM_001408502.1:c.557T>C
  • NM_001408503.1:c.623T>C
  • NM_001408504.1:c.623T>C
  • NM_001408505.1:c.623T>C
  • NM_001408506.1:c.563T>C
  • NM_001408507.1:c.560T>C
  • NM_001408508.1:c.551T>C
  • NM_001408509.1:c.551T>C
  • NM_001408510.1:c.509T>C
  • NM_001408511.1:c.506T>C
  • NM_001408512.1:c.386T>C
  • NM_001408513.1:c.677T>C
  • NM_001408514.1:c.680T>C
  • NM_007294.4:c.4199T>CMANE SELECT
  • NM_007297.4:c.4058T>C
  • NM_007298.4:c.890T>C
  • NM_007299.4:c.890T>C
  • NM_007300.4:c.4199T>C
  • NM_007304.2:c.890T>C
  • NP_001394500.1:p.Met1329Thr
  • NP_001394510.1:p.Met1400Thr
  • NP_001394511.1:p.Met1400Thr
  • NP_001394512.1:p.Met1400Thr
  • NP_001394514.1:p.Met1400Thr
  • NP_001394516.1:p.Met1399Thr
  • NP_001394519.1:p.Met1399Thr
  • NP_001394520.1:p.Met1399Thr
  • NP_001394522.1:p.Met1400Thr
  • NP_001394523.1:p.Met1400Thr
  • NP_001394525.1:p.Met1400Thr
  • NP_001394526.1:p.Met1400Thr
  • NP_001394527.1:p.Met1400Thr
  • NP_001394531.1:p.Met1400Thr
  • NP_001394532.1:p.Met1400Thr
  • NP_001394534.1:p.Met1400Thr
  • NP_001394539.1:p.Met1399Thr
  • NP_001394540.1:p.Met1399Thr
  • NP_001394541.1:p.Met1399Thr
  • NP_001394542.1:p.Met1399Thr
  • NP_001394543.1:p.Met1399Thr
  • NP_001394544.1:p.Met1399Thr
  • NP_001394545.1:p.Met1400Thr
  • NP_001394546.1:p.Met1400Thr
  • NP_001394547.1:p.Met1400Thr
  • NP_001394548.1:p.Met1400Thr
  • NP_001394549.1:p.Met1400Thr
  • NP_001394550.1:p.Met1400Thr
  • NP_001394551.1:p.Met1400Thr
  • NP_001394552.1:p.Met1400Thr
  • NP_001394553.1:p.Met1399Thr
  • NP_001394554.1:p.Met1399Thr
  • NP_001394555.1:p.Met1399Thr
  • NP_001394556.1:p.Met1398Thr
  • NP_001394557.1:p.Met1398Thr
  • NP_001394558.1:p.Met1398Thr
  • NP_001394559.1:p.Met1398Thr
  • NP_001394560.1:p.Met1398Thr
  • NP_001394561.1:p.Met1398Thr
  • NP_001394562.1:p.Met1399Thr
  • NP_001394563.1:p.Met1399Thr
  • NP_001394564.1:p.Met1399Thr
  • NP_001394565.1:p.Met1399Thr
  • NP_001394566.1:p.Met1399Thr
  • NP_001394567.1:p.Met1399Thr
  • NP_001394568.1:p.Met1399Thr
  • NP_001394569.1:p.Met1399Thr
  • NP_001394570.1:p.Met1399Thr
  • NP_001394571.1:p.Met1399Thr
  • NP_001394573.1:p.Met1398Thr
  • NP_001394574.1:p.Met1398Thr
  • NP_001394575.1:p.Met1396Thr
  • NP_001394576.1:p.Met1396Thr
  • NP_001394577.1:p.Met1359Thr
  • NP_001394578.1:p.Met1358Thr
  • NP_001394581.1:p.Met1400Thr
  • NP_001394582.1:p.Met1374Thr
  • NP_001394583.1:p.Met1374Thr
  • NP_001394584.1:p.Met1374Thr
  • NP_001394585.1:p.Met1373Thr
  • NP_001394586.1:p.Met1374Thr
  • NP_001394587.1:p.Met1374Thr
  • NP_001394588.1:p.Met1372Thr
  • NP_001394589.1:p.Met1372Thr
  • NP_001394590.1:p.Met1373Thr
  • NP_001394591.1:p.Met1373Thr
  • NP_001394592.1:p.Met1373Thr
  • NP_001394593.1:p.Met1359Thr
  • NP_001394594.1:p.Met1359Thr
  • NP_001394595.1:p.Met1359Thr
  • NP_001394596.1:p.Met1359Thr
  • NP_001394597.1:p.Met1359Thr
  • NP_001394598.1:p.Met1359Thr
  • NP_001394599.1:p.Met1358Thr
  • NP_001394600.1:p.Met1358Thr
  • NP_001394601.1:p.Met1358Thr
  • NP_001394602.1:p.Met1358Thr
  • NP_001394603.1:p.Met1358Thr
  • NP_001394604.1:p.Met1358Thr
  • NP_001394605.1:p.Met1358Thr
  • NP_001394606.1:p.Met1359Thr
  • NP_001394607.1:p.Met1359Thr
  • NP_001394608.1:p.Met1359Thr
  • NP_001394609.1:p.Met1359Thr
  • NP_001394610.1:p.Met1358Thr
  • NP_001394611.1:p.Met1358Thr
  • NP_001394612.1:p.Met1358Thr
  • NP_001394613.1:p.Met1400Thr
  • NP_001394614.1:p.Met1357Thr
  • NP_001394615.1:p.Met1357Thr
  • NP_001394616.1:p.Met1357Thr
  • NP_001394617.1:p.Met1358Thr
  • NP_001394618.1:p.Met1358Thr
  • NP_001394619.1:p.Met1357Thr
  • NP_001394620.1:p.Met1357Thr
  • NP_001394621.1:p.Met1353Thr
  • NP_001394623.1:p.Met1353Thr
  • NP_001394624.1:p.Met1353Thr
  • NP_001394625.1:p.Met1353Thr
  • NP_001394626.1:p.Met1353Thr
  • NP_001394627.1:p.Met1353Thr
  • NP_001394653.1:p.Met1353Thr
  • NP_001394654.1:p.Met1353Thr
  • NP_001394655.1:p.Met1353Thr
  • NP_001394656.1:p.Met1353Thr
  • NP_001394657.1:p.Met1353Thr
  • NP_001394658.1:p.Met1353Thr
  • NP_001394659.1:p.Met1353Thr
  • NP_001394660.1:p.Met1353Thr
  • NP_001394661.1:p.Met1353Thr
  • NP_001394662.1:p.Met1353Thr
  • NP_001394663.1:p.Met1353Thr
  • NP_001394664.1:p.Met1353Thr
  • NP_001394665.1:p.Met1353Thr
  • NP_001394666.1:p.Met1353Thr
  • NP_001394667.1:p.Met1353Thr
  • NP_001394668.1:p.Met1353Thr
  • NP_001394669.1:p.Met1352Thr
  • NP_001394670.1:p.Met1352Thr
  • NP_001394671.1:p.Met1352Thr
  • NP_001394672.1:p.Met1352Thr
  • NP_001394673.1:p.Met1352Thr
  • NP_001394674.1:p.Met1352Thr
  • NP_001394675.1:p.Met1352Thr
  • NP_001394676.1:p.Met1352Thr
  • NP_001394677.1:p.Met1352Thr
  • NP_001394678.1:p.Met1352Thr
  • NP_001394679.1:p.Met1352Thr
  • NP_001394680.1:p.Met1352Thr
  • NP_001394681.1:p.Met1352Thr
  • NP_001394767.1:p.Met1352Thr
  • NP_001394768.1:p.Met1352Thr
  • NP_001394770.1:p.Met1352Thr
  • NP_001394771.1:p.Met1352Thr
  • NP_001394772.1:p.Met1352Thr
  • NP_001394773.1:p.Met1352Thr
  • NP_001394774.1:p.Met1352Thr
  • NP_001394775.1:p.Met1352Thr
  • NP_001394776.1:p.Met1351Thr
  • NP_001394777.1:p.Met1351Thr
  • NP_001394778.1:p.Met1351Thr
  • NP_001394779.1:p.Met1352Thr
  • NP_001394780.1:p.Met1352Thr
  • NP_001394781.1:p.Met1352Thr
  • NP_001394782.1:p.Met1329Thr
  • NP_001394783.1:p.Met1400Thr
  • NP_001394787.1:p.Met1400Thr
  • NP_001394788.1:p.Met1400Thr
  • NP_001394789.1:p.Met1399Thr
  • NP_001394790.1:p.Met1399Thr
  • NP_001394791.1:p.Met1333Thr
  • NP_001394792.1:p.Met1359Thr
  • NP_001394803.1:p.Met1332Thr
  • NP_001394804.1:p.Met1332Thr
  • NP_001394808.1:p.Met1330Thr
  • NP_001394810.1:p.Met1330Thr
  • NP_001394811.1:p.Met1330Thr
  • NP_001394813.1:p.Met1330Thr
  • NP_001394814.1:p.Met1330Thr
  • NP_001394815.1:p.Met1330Thr
  • NP_001394816.1:p.Met1330Thr
  • NP_001394818.1:p.Met1330Thr
  • NP_001394823.1:p.Met1329Thr
  • NP_001394824.1:p.Met1329Thr
  • NP_001394825.1:p.Met1329Thr
  • NP_001394826.1:p.Met1329Thr
  • NP_001394827.1:p.Met1329Thr
  • NP_001394828.1:p.Met1329Thr
  • NP_001394829.1:p.Met1330Thr
  • NP_001394831.1:p.Met1330Thr
  • NP_001394833.1:p.Met1330Thr
  • NP_001394835.1:p.Met1330Thr
  • NP_001394836.1:p.Met1329Thr
  • NP_001394837.1:p.Met1329Thr
  • NP_001394838.1:p.Met1329Thr
  • NP_001394839.1:p.Met1329Thr
  • NP_001394844.1:p.Met1328Thr
  • NP_001394845.1:p.Met1329Thr
  • NP_001394846.1:p.Met1329Thr
  • NP_001394847.1:p.Met1329Thr
  • NP_001394848.1:p.Met1359Thr
  • NP_001394849.1:p.Met1312Thr
  • NP_001394850.1:p.Met1312Thr
  • NP_001394851.1:p.Met1312Thr
  • NP_001394852.1:p.Met1312Thr
  • NP_001394853.1:p.Met1312Thr
  • NP_001394854.1:p.Met1312Thr
  • NP_001394855.1:p.Met1312Thr
  • NP_001394856.1:p.Met1312Thr
  • NP_001394857.1:p.Met1312Thr
  • NP_001394858.1:p.Met1312Thr
  • NP_001394859.1:p.Met1311Thr
  • NP_001394860.1:p.Met1311Thr
  • NP_001394861.1:p.Met1311Thr
  • NP_001394862.1:p.Met1311Thr
  • NP_001394863.1:p.Met1310Thr
  • NP_001394864.1:p.Met1311Thr
  • NP_001394865.1:p.Met1311Thr
  • NP_001394866.1:p.Met1359Thr
  • NP_001394867.1:p.Met1359Thr
  • NP_001394868.1:p.Met1359Thr
  • NP_001394869.1:p.Met1358Thr
  • NP_001394870.1:p.Met1358Thr
  • NP_001394871.1:p.Met1353Thr
  • NP_001394872.1:p.Met1352Thr
  • NP_001394873.1:p.Met1353Thr
  • NP_001394874.1:p.Met1353Thr
  • NP_001394875.1:p.Met1289Thr
  • NP_001394876.1:p.Met1289Thr
  • NP_001394877.1:p.Met1289Thr
  • NP_001394878.1:p.Met1289Thr
  • NP_001394879.1:p.Met1289Thr
  • NP_001394880.1:p.Met1289Thr
  • NP_001394881.1:p.Met1288Thr
  • NP_001394882.1:p.Met1288Thr
  • NP_001394883.1:p.Met1288Thr
  • NP_001394884.1:p.Met1288Thr
  • NP_001394885.1:p.Met1287Thr
  • NP_001394886.1:p.Met1288Thr
  • NP_001394887.1:p.Met1288Thr
  • NP_001394888.1:p.Met1273Thr
  • NP_001394889.1:p.Met1273Thr
  • NP_001394891.1:p.Met1272Thr
  • NP_001394892.1:p.Met1272Thr
  • NP_001394893.1:p.Met1352Thr
  • NP_001394894.1:p.Met1231Thr
  • NP_001394895.1:p.Met1104Thr
  • NP_001394896.1:p.Met1104Thr
  • NP_001394897.1:p.Met532Thr
  • NP_001394898.1:p.Met531Thr
  • NP_001394899.1:p.Met297Thr
  • NP_001394900.1:p.Met297Thr
  • NP_001394901.1:p.Met296Thr
  • NP_001394902.1:p.Met297Thr
  • NP_001394903.1:p.Met297Thr
  • NP_001394904.1:p.Met297Thr
  • NP_001394905.1:p.Met297Thr
  • NP_001394906.1:p.Met297Thr
  • NP_001394907.1:p.Met297Thr
  • NP_001394908.1:p.Met296Thr
  • NP_001394909.1:p.Met296Thr
  • NP_001394910.1:p.Met296Thr
  • NP_001394911.1:p.Met296Thr
  • NP_001394912.1:p.Met296Thr
  • NP_001394913.1:p.Met296Thr
  • NP_001394914.1:p.Met296Thr
  • NP_001394915.1:p.Met296Thr
  • NP_001394919.1:p.Met296Thr
  • NP_001394920.1:p.Met296Thr
  • NP_001394921.1:p.Met296Thr
  • NP_001394922.1:p.Met297Thr
  • NP_001395321.1:p.Met296Thr
  • NP_001395325.1:p.Met296Thr
  • NP_001395326.1:p.Met296Thr
  • NP_001395327.1:p.Met296Thr
  • NP_001395328.1:p.Met296Thr
  • NP_001395329.1:p.Met295Thr
  • NP_001395330.1:p.Met295Thr
  • NP_001395331.1:p.Met295Thr
  • NP_001395332.1:p.Met296Thr
  • NP_001395333.1:p.Met296Thr
  • NP_001395335.1:p.Met294Thr
  • NP_001395336.1:p.Met295Thr
  • NP_001395337.1:p.Met294Thr
  • NP_001395338.1:p.Met271Thr
  • NP_001395339.1:p.Met250Thr
  • NP_001395340.1:p.Met271Thr
  • NP_001395341.1:p.Met271Thr
  • NP_001395342.1:p.Met270Thr
  • NP_001395343.1:p.Met271Thr
  • NP_001395344.1:p.Met271Thr
  • NP_001395345.1:p.Met270Thr
  • NP_001395347.1:p.Met258Thr
  • NP_001395348.1:p.Met258Thr
  • NP_001395349.1:p.Met258Thr
  • NP_001395350.1:p.Met257Thr
  • NP_001395351.1:p.Met258Thr
  • NP_001395352.1:p.Met258Thr
  • NP_001395353.1:p.Met257Thr
  • NP_001395354.1:p.Met256Thr
  • NP_001395355.1:p.Met256Thr
  • NP_001395356.1:p.Met256Thr
  • NP_001395357.1:p.Met256Thr
  • NP_001395358.1:p.Met256Thr
  • NP_001395359.1:p.Met256Thr
  • NP_001395360.1:p.Met257Thr
  • NP_001395361.1:p.Met255Thr
  • NP_001395362.1:p.Met255Thr
  • NP_001395363.1:p.Met255Thr
  • NP_001395364.1:p.Met255Thr
  • NP_001395365.1:p.Met256Thr
  • NP_001395366.1:p.Met256Thr
  • NP_001395367.1:p.Met256Thr
  • NP_001395368.1:p.Met256Thr
  • NP_001395369.1:p.Met256Thr
  • NP_001395370.1:p.Met255Thr
  • NP_001395371.1:p.Met255Thr
  • NP_001395372.1:p.Met255Thr
  • NP_001395373.1:p.Met255Thr
  • NP_001395374.1:p.Met255Thr
  • NP_001395375.1:p.Met255Thr
  • NP_001395376.1:p.Met255Thr
  • NP_001395377.1:p.Met255Thr
  • NP_001395379.1:p.Met255Thr
  • NP_001395380.1:p.Met252Thr
  • NP_001395381.1:p.Met250Thr
  • NP_001395382.1:p.Met250Thr
  • NP_001395383.1:p.Met250Thr
  • NP_001395384.1:p.Met250Thr
  • NP_001395385.1:p.Met250Thr
  • NP_001395386.1:p.Met250Thr
  • NP_001395387.1:p.Met250Thr
  • NP_001395388.1:p.Met250Thr
  • NP_001395389.1:p.Met250Thr
  • NP_001395390.1:p.Met250Thr
  • NP_001395391.1:p.Met249Thr
  • NP_001395392.1:p.Met249Thr
  • NP_001395393.1:p.Met249Thr
  • NP_001395394.1:p.Met249Thr
  • NP_001395395.1:p.Met249Thr
  • NP_001395396.1:p.Met249Thr
  • NP_001395397.1:p.Met249Thr
  • NP_001395398.1:p.Met249Thr
  • NP_001395399.1:p.Met248Thr
  • NP_001395401.1:p.Met296Thr
  • NP_001395402.1:p.Met296Thr
  • NP_001395403.1:p.Met230Thr
  • NP_001395404.1:p.Met229Thr
  • NP_001395405.1:p.Met230Thr
  • NP_001395407.1:p.Met227Thr
  • NP_001395408.1:p.Met227Thr
  • NP_001395409.1:p.Met227Thr
  • NP_001395410.1:p.Met227Thr
  • NP_001395411.1:p.Met227Thr
  • NP_001395412.1:p.Met227Thr
  • NP_001395413.1:p.Met227Thr
  • NP_001395414.1:p.Met227Thr
  • NP_001395418.1:p.Met226Thr
  • NP_001395419.1:p.Met226Thr
  • NP_001395420.1:p.Met226Thr
  • NP_001395421.1:p.Met226Thr
  • NP_001395422.1:p.Met226Thr
  • NP_001395423.1:p.Met217Thr
  • NP_001395424.1:p.Met216Thr
  • NP_001395425.1:p.Met209Thr
  • NP_001395426.1:p.Met209Thr
  • NP_001395427.1:p.Met209Thr
  • NP_001395428.1:p.Met209Thr
  • NP_001395429.1:p.Met209Thr
  • NP_001395430.1:p.Met209Thr
  • NP_001395431.1:p.Met186Thr
  • NP_001395432.1:p.Met208Thr
  • NP_001395433.1:p.Met208Thr
  • NP_001395434.1:p.Met208Thr
  • NP_001395435.1:p.Met188Thr
  • NP_001395436.1:p.Met187Thr
  • NP_001395437.1:p.Met184Thr
  • NP_001395438.1:p.Met184Thr
  • NP_001395439.1:p.Met170Thr
  • NP_001395440.1:p.Met169Thr
  • NP_001395441.1:p.Met129Thr
  • NP_001395442.1:p.Met226Thr
  • NP_001395443.1:p.Met227Thr
  • NP_009225.1:p.Met1400Thr
  • NP_009225.1:p.Met1400Thr
  • NP_009228.2:p.Met1353Thr
  • NP_009229.2:p.Met297Thr
  • NP_009229.2:p.Met297Thr
  • NP_009230.2:p.Met297Thr
  • NP_009231.2:p.Met1400Thr
  • NP_009235.2:p.Met297Thr
  • LRG_292t1:c.4199T>C
  • LRG_292:g.135422T>C
  • LRG_292p1:p.Met1400Thr
  • NC_000017.10:g.41234579A>G
  • NM_007294.3:c.4199T>C
  • NM_007298.3:c.890T>C
  • NR_027676.2:n.4376T>C
  • U14680.1:n.4318T>C
Protein change:
M1104T
Links:
dbSNP: rs80357473
NCBI 1000 Genomes Browser:
rs80357473
Molecular consequence:
  • NM_001407571.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4193T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4193T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4193T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4193T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4193T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4193T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4193T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4193T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4187T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4187T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4121T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4121T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4121T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4121T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4121T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4115T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4070T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4070T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4070T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4070T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4070T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3998T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3995T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3995T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3983T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3860T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3818T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3818T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3815T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3815T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3692T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3311T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3311T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1595T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1592T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.884T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.884T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.884T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.881T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.884T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.881T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.812T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.812T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.812T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.812T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.812T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.773T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.773T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.773T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.773T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.773T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.755T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.746T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.746T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.746T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.746T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.746T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.746T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.746T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.746T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.689T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.686T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.689T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.677T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.677T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.677T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.677T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.677T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.650T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.647T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.626T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.626T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.626T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.626T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.626T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.626T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.557T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.623T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.623T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.623T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.563T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.560T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.551T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.551T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.509T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.506T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.386T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.677T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.680T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4376T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001538460Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 3, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Woods NT, Baskin R, Golubeva V, Jhuraney A, De-Gregoriis G, Vaclova T, Goldgar DE, Couch FJ, Carvalho MA, Iversen ES, Monteiro AN.

NPJ Genom Med. 2016;1. doi:pii: 16001. 10.1038/npjgenmed.2016.1. Epub 2016 Mar 2.

PubMed [citation]
PMID:
28781887
PMCID:
PMC5539989

Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.

Fernandes VC, Golubeva VA, Di Pietro G, Shields C, Amankwah K, Nepomuceno TC, de Gregoriis G, Abreu RBV, Harro C, Gomes TT, Silva RF, Suarez-Kurtz G, Couch FJ, Iversen ES, Monteiro ANA, Carvalho MA.

J Biol Chem. 2019 Apr 12;294(15):5980-5992. doi: 10.1074/jbc.RA118.005274. Epub 2019 Feb 14.

PubMed [citation]
PMID:
30765603
PMCID:
PMC6463708
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001538460.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

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. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 28781887, 30765603). 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 expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 55138). This missense change has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1400 of the BRCA1 protein (p.Met1400Thr).

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

Last Updated: Nov 10, 2024