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NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (3 submissions)
Last evaluated:
Mar 23, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000130064.20

Allele description [Variation Report for NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)]

NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)

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.2006T>C (p.Met669Thr)
HGVS:
  • NC_000017.11:g.43093525A>G
  • NG_005905.2:g.124459T>C
  • NM_001407571.1:c.1793T>C
  • NM_001407581.1:c.2006T>C
  • NM_001407582.1:c.2006T>C
  • NM_001407583.1:c.2006T>C
  • NM_001407585.1:c.2006T>C
  • NM_001407587.1:c.2003T>C
  • NM_001407590.1:c.2003T>C
  • NM_001407591.1:c.2003T>C
  • NM_001407593.1:c.2006T>C
  • NM_001407594.1:c.2006T>C
  • NM_001407596.1:c.2006T>C
  • NM_001407597.1:c.2006T>C
  • NM_001407598.1:c.2006T>C
  • NM_001407602.1:c.2006T>C
  • NM_001407603.1:c.2006T>C
  • NM_001407605.1:c.2006T>C
  • NM_001407610.1:c.2003T>C
  • NM_001407611.1:c.2003T>C
  • NM_001407612.1:c.2003T>C
  • NM_001407613.1:c.2003T>C
  • NM_001407614.1:c.2003T>C
  • NM_001407615.1:c.2003T>C
  • NM_001407616.1:c.2006T>C
  • NM_001407617.1:c.2006T>C
  • NM_001407618.1:c.2006T>C
  • NM_001407619.1:c.2006T>C
  • NM_001407620.1:c.2006T>C
  • NM_001407621.1:c.2006T>C
  • NM_001407622.1:c.2006T>C
  • NM_001407623.1:c.2006T>C
  • NM_001407624.1:c.2006T>C
  • NM_001407625.1:c.2006T>C
  • NM_001407626.1:c.2006T>C
  • NM_001407627.1:c.2003T>C
  • NM_001407628.1:c.2003T>C
  • NM_001407629.1:c.2003T>C
  • NM_001407630.1:c.2003T>C
  • NM_001407631.1:c.2003T>C
  • NM_001407632.1:c.2003T>C
  • NM_001407633.1:c.2003T>C
  • NM_001407634.1:c.2003T>C
  • NM_001407635.1:c.2003T>C
  • NM_001407636.1:c.2003T>C
  • NM_001407637.1:c.2003T>C
  • NM_001407638.1:c.2003T>C
  • NM_001407639.1:c.2006T>C
  • NM_001407640.1:c.2006T>C
  • NM_001407641.1:c.2006T>C
  • NM_001407642.1:c.2006T>C
  • NM_001407644.1:c.2003T>C
  • NM_001407645.1:c.2003T>C
  • NM_001407646.1:c.1997T>C
  • NM_001407647.1:c.1997T>C
  • NM_001407648.1:c.1883T>C
  • NM_001407649.1:c.1880T>C
  • NM_001407652.1:c.2006T>C
  • NM_001407653.1:c.1928T>C
  • NM_001407654.1:c.1928T>C
  • NM_001407655.1:c.1928T>C
  • NM_001407656.1:c.1928T>C
  • NM_001407657.1:c.1928T>C
  • NM_001407658.1:c.1928T>C
  • NM_001407659.1:c.1925T>C
  • NM_001407660.1:c.1925T>C
  • NM_001407661.1:c.1925T>C
  • NM_001407662.1:c.1925T>C
  • NM_001407663.1:c.1928T>C
  • NM_001407664.1:c.1883T>C
  • NM_001407665.1:c.1883T>C
  • NM_001407666.1:c.1883T>C
  • NM_001407667.1:c.1883T>C
  • NM_001407668.1:c.1883T>C
  • NM_001407669.1:c.1883T>C
  • NM_001407670.1:c.1880T>C
  • NM_001407671.1:c.1880T>C
  • NM_001407672.1:c.1880T>C
  • NM_001407673.1:c.1880T>C
  • NM_001407674.1:c.1883T>C
  • NM_001407675.1:c.1883T>C
  • NM_001407676.1:c.1883T>C
  • NM_001407677.1:c.1883T>C
  • NM_001407678.1:c.1883T>C
  • NM_001407679.1:c.1883T>C
  • NM_001407680.1:c.1883T>C
  • NM_001407681.1:c.1883T>C
  • NM_001407682.1:c.1883T>C
  • NM_001407683.1:c.1883T>C
  • NM_001407684.1:c.2006T>C
  • NM_001407685.1:c.1880T>C
  • NM_001407686.1:c.1880T>C
  • NM_001407687.1:c.1880T>C
  • NM_001407688.1:c.1880T>C
  • NM_001407689.1:c.1880T>C
  • NM_001407690.1:c.1880T>C
  • NM_001407691.1:c.1880T>C
  • NM_001407692.1:c.1865T>C
  • NM_001407694.1:c.1865T>C
  • NM_001407695.1:c.1865T>C
  • NM_001407696.1:c.1865T>C
  • NM_001407697.1:c.1865T>C
  • NM_001407698.1:c.1865T>C
  • NM_001407724.1:c.1865T>C
  • NM_001407725.1:c.1865T>C
  • NM_001407726.1:c.1865T>C
  • NM_001407727.1:c.1865T>C
  • NM_001407728.1:c.1865T>C
  • NM_001407729.1:c.1865T>C
  • NM_001407730.1:c.1865T>C
  • NM_001407731.1:c.1865T>C
  • NM_001407732.1:c.1865T>C
  • NM_001407733.1:c.1865T>C
  • NM_001407734.1:c.1865T>C
  • NM_001407735.1:c.1865T>C
  • NM_001407736.1:c.1865T>C
  • NM_001407737.1:c.1865T>C
  • NM_001407738.1:c.1865T>C
  • NM_001407739.1:c.1865T>C
  • NM_001407740.1:c.1862T>C
  • NM_001407741.1:c.1862T>C
  • NM_001407742.1:c.1862T>C
  • NM_001407743.1:c.1862T>C
  • NM_001407744.1:c.1862T>C
  • NM_001407745.1:c.1862T>C
  • NM_001407746.1:c.1862T>C
  • NM_001407747.1:c.1862T>C
  • NM_001407748.1:c.1862T>C
  • NM_001407749.1:c.1862T>C
  • NM_001407750.1:c.1865T>C
  • NM_001407751.1:c.1865T>C
  • NM_001407752.1:c.1865T>C
  • NM_001407838.1:c.1862T>C
  • NM_001407839.1:c.1862T>C
  • NM_001407841.1:c.1862T>C
  • NM_001407842.1:c.1862T>C
  • NM_001407843.1:c.1862T>C
  • NM_001407844.1:c.1862T>C
  • NM_001407845.1:c.1862T>C
  • NM_001407846.1:c.1862T>C
  • NM_001407847.1:c.1862T>C
  • NM_001407848.1:c.1862T>C
  • NM_001407849.1:c.1862T>C
  • NM_001407850.1:c.1865T>C
  • NM_001407851.1:c.1865T>C
  • NM_001407852.1:c.1865T>C
  • NM_001407853.1:c.1793T>C
  • NM_001407854.1:c.2006T>C
  • NM_001407858.1:c.2006T>C
  • NM_001407859.1:c.2006T>C
  • NM_001407860.1:c.2003T>C
  • NM_001407861.1:c.2003T>C
  • NM_001407862.1:c.1805T>C
  • NM_001407863.1:c.1883T>C
  • NM_001407874.1:c.1802T>C
  • NM_001407875.1:c.1802T>C
  • NM_001407879.1:c.1796T>C
  • NM_001407881.1:c.1796T>C
  • NM_001407882.1:c.1796T>C
  • NM_001407884.1:c.1796T>C
  • NM_001407885.1:c.1796T>C
  • NM_001407886.1:c.1796T>C
  • NM_001407887.1:c.1796T>C
  • NM_001407889.1:c.1796T>C
  • NM_001407894.1:c.1793T>C
  • NM_001407895.1:c.1793T>C
  • NM_001407896.1:c.1793T>C
  • NM_001407897.1:c.1793T>C
  • NM_001407898.1:c.1793T>C
  • NM_001407899.1:c.1793T>C
  • NM_001407900.1:c.1796T>C
  • NM_001407902.1:c.1796T>C
  • NM_001407904.1:c.1796T>C
  • NM_001407906.1:c.1796T>C
  • NM_001407907.1:c.1796T>C
  • NM_001407908.1:c.1796T>C
  • NM_001407909.1:c.1796T>C
  • NM_001407910.1:c.1796T>C
  • NM_001407915.1:c.1793T>C
  • NM_001407916.1:c.1793T>C
  • NM_001407917.1:c.1793T>C
  • NM_001407918.1:c.1793T>C
  • NM_001407919.1:c.1883T>C
  • NM_001407920.1:c.1742T>C
  • NM_001407921.1:c.1742T>C
  • NM_001407922.1:c.1742T>C
  • NM_001407923.1:c.1742T>C
  • NM_001407924.1:c.1742T>C
  • NM_001407925.1:c.1742T>C
  • NM_001407926.1:c.1742T>C
  • NM_001407927.1:c.1742T>C
  • NM_001407928.1:c.1742T>C
  • NM_001407929.1:c.1742T>C
  • NM_001407930.1:c.1739T>C
  • NM_001407931.1:c.1739T>C
  • NM_001407932.1:c.1739T>C
  • NM_001407933.1:c.1742T>C
  • NM_001407934.1:c.1739T>C
  • NM_001407935.1:c.1742T>C
  • NM_001407936.1:c.1739T>C
  • NM_001407937.1:c.1883T>C
  • NM_001407938.1:c.1883T>C
  • NM_001407939.1:c.1883T>C
  • NM_001407940.1:c.1880T>C
  • NM_001407941.1:c.1880T>C
  • NM_001407942.1:c.1865T>C
  • NM_001407943.1:c.1862T>C
  • NM_001407944.1:c.1865T>C
  • NM_001407945.1:c.1865T>C
  • NM_001407946.1:c.1673T>C
  • NM_001407947.1:c.1673T>C
  • NM_001407948.1:c.1673T>C
  • NM_001407949.1:c.1673T>C
  • NM_001407950.1:c.1673T>C
  • NM_001407951.1:c.1673T>C
  • NM_001407952.1:c.1673T>C
  • NM_001407953.1:c.1673T>C
  • NM_001407954.1:c.1670T>C
  • NM_001407955.1:c.1670T>C
  • NM_001407956.1:c.1670T>C
  • NM_001407957.1:c.1673T>C
  • NM_001407958.1:c.1670T>C
  • NM_001407959.1:c.1625T>C
  • NM_001407960.1:c.1625T>C
  • NM_001407962.1:c.1622T>C
  • NM_001407963.1:c.1625T>C
  • NM_001407964.1:c.1862T>C
  • NM_001407965.1:c.1502T>C
  • NM_001407966.1:c.1118T>C
  • NM_001407967.1:c.1118T>C
  • NM_001407968.1:c.787+1219T>C
  • NM_001407969.1:c.787+1219T>C
  • NM_001407970.1:c.787+1219T>C
  • NM_001407971.1:c.787+1219T>C
  • NM_001407972.1:c.784+1219T>C
  • NM_001407973.1:c.787+1219T>C
  • NM_001407974.1:c.787+1219T>C
  • NM_001407975.1:c.787+1219T>C
  • NM_001407976.1:c.787+1219T>C
  • NM_001407977.1:c.787+1219T>C
  • NM_001407978.1:c.787+1219T>C
  • NM_001407979.1:c.787+1219T>C
  • NM_001407980.1:c.787+1219T>C
  • NM_001407981.1:c.787+1219T>C
  • NM_001407982.1:c.787+1219T>C
  • NM_001407983.1:c.787+1219T>C
  • NM_001407984.1:c.784+1219T>C
  • NM_001407985.1:c.784+1219T>C
  • NM_001407986.1:c.784+1219T>C
  • NM_001407990.1:c.787+1219T>C
  • NM_001407991.1:c.784+1219T>C
  • NM_001407992.1:c.784+1219T>C
  • NM_001407993.1:c.787+1219T>C
  • NM_001408392.1:c.784+1219T>C
  • NM_001408396.1:c.784+1219T>C
  • NM_001408397.1:c.784+1219T>C
  • NM_001408398.1:c.784+1219T>C
  • NM_001408399.1:c.784+1219T>C
  • NM_001408400.1:c.784+1219T>C
  • NM_001408401.1:c.784+1219T>C
  • NM_001408402.1:c.784+1219T>C
  • NM_001408403.1:c.787+1219T>C
  • NM_001408404.1:c.787+1219T>C
  • NM_001408406.1:c.790+1216T>C
  • NM_001408407.1:c.784+1219T>C
  • NM_001408408.1:c.778+1219T>C
  • NM_001408409.1:c.709+1219T>C
  • NM_001408410.1:c.646+1219T>C
  • NM_001408411.1:c.709+1219T>C
  • NM_001408412.1:c.709+1219T>C
  • NM_001408413.1:c.706+1219T>C
  • NM_001408414.1:c.709+1219T>C
  • NM_001408415.1:c.709+1219T>C
  • NM_001408416.1:c.706+1219T>C
  • NM_001408418.1:c.670+2321T>C
  • NM_001408419.1:c.670+2321T>C
  • NM_001408420.1:c.670+2321T>C
  • NM_001408421.1:c.667+2321T>C
  • NM_001408422.1:c.670+2321T>C
  • NM_001408423.1:c.670+2321T>C
  • NM_001408424.1:c.667+2321T>C
  • NM_001408425.1:c.664+1219T>C
  • NM_001408426.1:c.664+1219T>C
  • NM_001408427.1:c.664+1219T>C
  • NM_001408428.1:c.664+1219T>C
  • NM_001408429.1:c.664+1219T>C
  • NM_001408430.1:c.664+1219T>C
  • NM_001408431.1:c.667+2321T>C
  • NM_001408432.1:c.661+1219T>C
  • NM_001408433.1:c.661+1219T>C
  • NM_001408434.1:c.661+1219T>C
  • NM_001408435.1:c.661+1219T>C
  • NM_001408436.1:c.664+1219T>C
  • NM_001408437.1:c.664+1219T>C
  • NM_001408438.1:c.664+1219T>C
  • NM_001408439.1:c.664+1219T>C
  • NM_001408440.1:c.664+1219T>C
  • NM_001408441.1:c.664+1219T>C
  • NM_001408442.1:c.664+1219T>C
  • NM_001408443.1:c.664+1219T>C
  • NM_001408444.1:c.664+1219T>C
  • NM_001408445.1:c.661+1219T>C
  • NM_001408446.1:c.661+1219T>C
  • NM_001408447.1:c.661+1219T>C
  • NM_001408448.1:c.661+1219T>C
  • NM_001408450.1:c.661+1219T>C
  • NM_001408451.1:c.652+1219T>C
  • NM_001408452.1:c.646+1219T>C
  • NM_001408453.1:c.646+1219T>C
  • NM_001408454.1:c.646+1219T>C
  • NM_001408455.1:c.646+1219T>C
  • NM_001408456.1:c.646+1219T>C
  • NM_001408457.1:c.646+1219T>C
  • NM_001408458.1:c.646+1219T>C
  • NM_001408459.1:c.646+1219T>C
  • NM_001408460.1:c.646+1219T>C
  • NM_001408461.1:c.646+1219T>C
  • NM_001408462.1:c.643+1219T>C
  • NM_001408463.1:c.643+1219T>C
  • NM_001408464.1:c.643+1219T>C
  • NM_001408465.1:c.643+1219T>C
  • NM_001408466.1:c.646+1219T>C
  • NM_001408467.1:c.646+1219T>C
  • NM_001408468.1:c.643+1219T>C
  • NM_001408469.1:c.646+1219T>C
  • NM_001408470.1:c.643+1219T>C
  • NM_001408472.1:c.787+1219T>C
  • NM_001408473.1:c.784+1219T>C
  • NM_001408474.1:c.586+1219T>C
  • NM_001408475.1:c.583+1219T>C
  • NM_001408476.1:c.586+1219T>C
  • NM_001408478.1:c.577+1219T>C
  • NM_001408479.1:c.577+1219T>C
  • NM_001408480.1:c.577+1219T>C
  • NM_001408481.1:c.577+1219T>C
  • NM_001408482.1:c.577+1219T>C
  • NM_001408483.1:c.577+1219T>C
  • NM_001408484.1:c.577+1219T>C
  • NM_001408485.1:c.577+1219T>C
  • NM_001408489.1:c.577+1219T>C
  • NM_001408490.1:c.574+1219T>C
  • NM_001408491.1:c.574+1219T>C
  • NM_001408492.1:c.577+1219T>C
  • NM_001408493.1:c.574+1219T>C
  • NM_001408494.1:c.548-2493T>C
  • NM_001408495.1:c.545-2493T>C
  • NM_001408496.1:c.523+1219T>C
  • NM_001408497.1:c.523+1219T>C
  • NM_001408498.1:c.523+1219T>C
  • NM_001408499.1:c.523+1219T>C
  • NM_001408500.1:c.523+1219T>C
  • NM_001408501.1:c.523+1219T>C
  • NM_001408502.1:c.454+1219T>C
  • NM_001408503.1:c.520+1219T>C
  • NM_001408504.1:c.520+1219T>C
  • NM_001408505.1:c.520+1219T>C
  • NM_001408506.1:c.460+2321T>C
  • NM_001408507.1:c.460+2321T>C
  • NM_001408508.1:c.451+1219T>C
  • NM_001408509.1:c.451+1219T>C
  • NM_001408510.1:c.406+1219T>C
  • NM_001408511.1:c.404-2493T>C
  • NM_001408512.1:c.283+1219T>C
  • NM_001408513.1:c.577+1219T>C
  • NM_001408514.1:c.577+1219T>C
  • NM_007294.4:c.2006T>CMANE SELECT
  • NM_007297.4:c.1865T>C
  • NM_007298.4:c.787+1219T>C
  • NM_007299.4:c.787+1219T>C
  • NM_007300.4:c.2006T>C
  • NP_001394500.1:p.Met598Thr
  • NP_001394510.1:p.Met669Thr
  • NP_001394511.1:p.Met669Thr
  • NP_001394512.1:p.Met669Thr
  • NP_001394514.1:p.Met669Thr
  • NP_001394516.1:p.Met668Thr
  • NP_001394519.1:p.Met668Thr
  • NP_001394520.1:p.Met668Thr
  • NP_001394522.1:p.Met669Thr
  • NP_001394523.1:p.Met669Thr
  • NP_001394525.1:p.Met669Thr
  • NP_001394526.1:p.Met669Thr
  • NP_001394527.1:p.Met669Thr
  • NP_001394531.1:p.Met669Thr
  • NP_001394532.1:p.Met669Thr
  • NP_001394534.1:p.Met669Thr
  • NP_001394539.1:p.Met668Thr
  • NP_001394540.1:p.Met668Thr
  • NP_001394541.1:p.Met668Thr
  • NP_001394542.1:p.Met668Thr
  • NP_001394543.1:p.Met668Thr
  • NP_001394544.1:p.Met668Thr
  • NP_001394545.1:p.Met669Thr
  • NP_001394546.1:p.Met669Thr
  • NP_001394547.1:p.Met669Thr
  • NP_001394548.1:p.Met669Thr
  • NP_001394549.1:p.Met669Thr
  • NP_001394550.1:p.Met669Thr
  • NP_001394551.1:p.Met669Thr
  • NP_001394552.1:p.Met669Thr
  • NP_001394553.1:p.Met669Thr
  • NP_001394554.1:p.Met669Thr
  • NP_001394555.1:p.Met669Thr
  • NP_001394556.1:p.Met668Thr
  • NP_001394557.1:p.Met668Thr
  • NP_001394558.1:p.Met668Thr
  • NP_001394559.1:p.Met668Thr
  • NP_001394560.1:p.Met668Thr
  • NP_001394561.1:p.Met668Thr
  • NP_001394562.1:p.Met668Thr
  • NP_001394563.1:p.Met668Thr
  • NP_001394564.1:p.Met668Thr
  • NP_001394565.1:p.Met668Thr
  • NP_001394566.1:p.Met668Thr
  • NP_001394567.1:p.Met668Thr
  • NP_001394568.1:p.Met669Thr
  • NP_001394569.1:p.Met669Thr
  • NP_001394570.1:p.Met669Thr
  • NP_001394571.1:p.Met669Thr
  • NP_001394573.1:p.Met668Thr
  • NP_001394574.1:p.Met668Thr
  • NP_001394575.1:p.Met666Thr
  • NP_001394576.1:p.Met666Thr
  • NP_001394577.1:p.Met628Thr
  • NP_001394578.1:p.Met627Thr
  • NP_001394581.1:p.Met669Thr
  • NP_001394582.1:p.Met643Thr
  • NP_001394583.1:p.Met643Thr
  • NP_001394584.1:p.Met643Thr
  • NP_001394585.1:p.Met643Thr
  • NP_001394586.1:p.Met643Thr
  • NP_001394587.1:p.Met643Thr
  • NP_001394588.1:p.Met642Thr
  • NP_001394589.1:p.Met642Thr
  • NP_001394590.1:p.Met642Thr
  • NP_001394591.1:p.Met642Thr
  • NP_001394592.1:p.Met643Thr
  • NP_001394593.1:p.Met628Thr
  • NP_001394594.1:p.Met628Thr
  • NP_001394595.1:p.Met628Thr
  • NP_001394596.1:p.Met628Thr
  • NP_001394597.1:p.Met628Thr
  • NP_001394598.1:p.Met628Thr
  • NP_001394599.1:p.Met627Thr
  • NP_001394600.1:p.Met627Thr
  • NP_001394601.1:p.Met627Thr
  • NP_001394602.1:p.Met627Thr
  • NP_001394603.1:p.Met628Thr
  • NP_001394604.1:p.Met628Thr
  • NP_001394605.1:p.Met628Thr
  • NP_001394606.1:p.Met628Thr
  • NP_001394607.1:p.Met628Thr
  • NP_001394608.1:p.Met628Thr
  • NP_001394609.1:p.Met628Thr
  • NP_001394610.1:p.Met628Thr
  • NP_001394611.1:p.Met628Thr
  • NP_001394612.1:p.Met628Thr
  • NP_001394613.1:p.Met669Thr
  • NP_001394614.1:p.Met627Thr
  • NP_001394615.1:p.Met627Thr
  • NP_001394616.1:p.Met627Thr
  • NP_001394617.1:p.Met627Thr
  • NP_001394618.1:p.Met627Thr
  • NP_001394619.1:p.Met627Thr
  • NP_001394620.1:p.Met627Thr
  • NP_001394621.1:p.Met622Thr
  • NP_001394623.1:p.Met622Thr
  • NP_001394624.1:p.Met622Thr
  • NP_001394625.1:p.Met622Thr
  • NP_001394626.1:p.Met622Thr
  • NP_001394627.1:p.Met622Thr
  • NP_001394653.1:p.Met622Thr
  • NP_001394654.1:p.Met622Thr
  • NP_001394655.1:p.Met622Thr
  • NP_001394656.1:p.Met622Thr
  • NP_001394657.1:p.Met622Thr
  • NP_001394658.1:p.Met622Thr
  • NP_001394659.1:p.Met622Thr
  • NP_001394660.1:p.Met622Thr
  • NP_001394661.1:p.Met622Thr
  • NP_001394662.1:p.Met622Thr
  • NP_001394663.1:p.Met622Thr
  • NP_001394664.1:p.Met622Thr
  • NP_001394665.1:p.Met622Thr
  • NP_001394666.1:p.Met622Thr
  • NP_001394667.1:p.Met622Thr
  • NP_001394668.1:p.Met622Thr
  • NP_001394669.1:p.Met621Thr
  • NP_001394670.1:p.Met621Thr
  • NP_001394671.1:p.Met621Thr
  • NP_001394672.1:p.Met621Thr
  • NP_001394673.1:p.Met621Thr
  • NP_001394674.1:p.Met621Thr
  • NP_001394675.1:p.Met621Thr
  • NP_001394676.1:p.Met621Thr
  • NP_001394677.1:p.Met621Thr
  • NP_001394678.1:p.Met621Thr
  • NP_001394679.1:p.Met622Thr
  • NP_001394680.1:p.Met622Thr
  • NP_001394681.1:p.Met622Thr
  • NP_001394767.1:p.Met621Thr
  • NP_001394768.1:p.Met621Thr
  • NP_001394770.1:p.Met621Thr
  • NP_001394771.1:p.Met621Thr
  • NP_001394772.1:p.Met621Thr
  • NP_001394773.1:p.Met621Thr
  • NP_001394774.1:p.Met621Thr
  • NP_001394775.1:p.Met621Thr
  • NP_001394776.1:p.Met621Thr
  • NP_001394777.1:p.Met621Thr
  • NP_001394778.1:p.Met621Thr
  • NP_001394779.1:p.Met622Thr
  • NP_001394780.1:p.Met622Thr
  • NP_001394781.1:p.Met622Thr
  • NP_001394782.1:p.Met598Thr
  • NP_001394783.1:p.Met669Thr
  • NP_001394787.1:p.Met669Thr
  • NP_001394788.1:p.Met669Thr
  • NP_001394789.1:p.Met668Thr
  • NP_001394790.1:p.Met668Thr
  • NP_001394791.1:p.Met602Thr
  • NP_001394792.1:p.Met628Thr
  • NP_001394803.1:p.Met601Thr
  • NP_001394804.1:p.Met601Thr
  • NP_001394808.1:p.Met599Thr
  • NP_001394810.1:p.Met599Thr
  • NP_001394811.1:p.Met599Thr
  • NP_001394813.1:p.Met599Thr
  • NP_001394814.1:p.Met599Thr
  • NP_001394815.1:p.Met599Thr
  • NP_001394816.1:p.Met599Thr
  • NP_001394818.1:p.Met599Thr
  • NP_001394823.1:p.Met598Thr
  • NP_001394824.1:p.Met598Thr
  • NP_001394825.1:p.Met598Thr
  • NP_001394826.1:p.Met598Thr
  • NP_001394827.1:p.Met598Thr
  • NP_001394828.1:p.Met598Thr
  • NP_001394829.1:p.Met599Thr
  • NP_001394831.1:p.Met599Thr
  • NP_001394833.1:p.Met599Thr
  • NP_001394835.1:p.Met599Thr
  • NP_001394836.1:p.Met599Thr
  • NP_001394837.1:p.Met599Thr
  • NP_001394838.1:p.Met599Thr
  • NP_001394839.1:p.Met599Thr
  • NP_001394844.1:p.Met598Thr
  • NP_001394845.1:p.Met598Thr
  • NP_001394846.1:p.Met598Thr
  • NP_001394847.1:p.Met598Thr
  • NP_001394848.1:p.Met628Thr
  • NP_001394849.1:p.Met581Thr
  • NP_001394850.1:p.Met581Thr
  • NP_001394851.1:p.Met581Thr
  • NP_001394852.1:p.Met581Thr
  • NP_001394853.1:p.Met581Thr
  • NP_001394854.1:p.Met581Thr
  • NP_001394855.1:p.Met581Thr
  • NP_001394856.1:p.Met581Thr
  • NP_001394857.1:p.Met581Thr
  • NP_001394858.1:p.Met581Thr
  • NP_001394859.1:p.Met580Thr
  • NP_001394860.1:p.Met580Thr
  • NP_001394861.1:p.Met580Thr
  • NP_001394862.1:p.Met581Thr
  • NP_001394863.1:p.Met580Thr
  • NP_001394864.1:p.Met581Thr
  • NP_001394865.1:p.Met580Thr
  • NP_001394866.1:p.Met628Thr
  • NP_001394867.1:p.Met628Thr
  • NP_001394868.1:p.Met628Thr
  • NP_001394869.1:p.Met627Thr
  • NP_001394870.1:p.Met627Thr
  • NP_001394871.1:p.Met622Thr
  • NP_001394872.1:p.Met621Thr
  • NP_001394873.1:p.Met622Thr
  • NP_001394874.1:p.Met622Thr
  • NP_001394875.1:p.Met558Thr
  • NP_001394876.1:p.Met558Thr
  • NP_001394877.1:p.Met558Thr
  • NP_001394878.1:p.Met558Thr
  • NP_001394879.1:p.Met558Thr
  • NP_001394880.1:p.Met558Thr
  • NP_001394881.1:p.Met558Thr
  • NP_001394882.1:p.Met558Thr
  • NP_001394883.1:p.Met557Thr
  • NP_001394884.1:p.Met557Thr
  • NP_001394885.1:p.Met557Thr
  • NP_001394886.1:p.Met558Thr
  • NP_001394887.1:p.Met557Thr
  • NP_001394888.1:p.Met542Thr
  • NP_001394889.1:p.Met542Thr
  • NP_001394891.1:p.Met541Thr
  • NP_001394892.1:p.Met542Thr
  • NP_001394893.1:p.Met621Thr
  • NP_001394894.1:p.Met501Thr
  • NP_001394895.1:p.Met373Thr
  • NP_001394896.1:p.Met373Thr
  • NP_009225.1:p.Met669Thr
  • NP_009225.1:p.Met669Thr
  • NP_009228.2:p.Met622Thr
  • NP_009231.2:p.Met669Thr
  • LRG_292t1:c.2006T>C
  • LRG_292:g.124459T>C
  • LRG_292p1:p.Met669Thr
  • NC_000017.10:g.41245542A>G
  • NM_007294.3:c.2006T>C
  • NR_027676.1:n.2142T>C
  • U14680.1:n.2125T>C
  • p.M669T
Nucleotide change:
2125T>C
Protein change:
M373T
Links:
dbSNP: rs80356895
NCBI 1000 Genomes Browser:
rs80356895
Molecular consequence:
  • NM_001407968.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1216T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2493T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2493T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2493T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1997T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1997T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1805T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1802T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1802T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1625T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1625T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1622T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1625T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1502T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000184891Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 9, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000911034Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Sep 23, 2016) 		germlineclinical testing

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

SCV003849569University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Dines et al. (Genet Med. 2020))		Likely benign
(Mar 23, 2023) 		germlinecuration

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

Help

Summary from all submissions

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

Citations

PubMed

Prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi, China.

Sun L, Liu J, Wang S, Chen Y, Li Z.

Int J Clin Exp Pathol. 2014;7(9):6262-9.

PubMed [citation]
PMID:
25337278
PMCID:
PMC4203249

Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.

Lerner-Ellis J, Mighton C, Lazaro C, Watkins N, Di Gioacchino V, Wong A, Chang MC, Charames GS.

J Cancer Res Clin Oncol. 2021 Mar;147(3):871-879. doi: 10.1007/s00432-020-03377-6. Epub 2020 Sep 3. Erratum in: J Cancer Res Clin Oncol. 2021 Aug;147(8):2487. doi: 10.1007/s00432-020-03399-0.

PubMed [citation]
PMID:
32885271
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000184891.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

From Color Diagnostics, LLC DBA Color Health, SCV000911034.1

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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003849569.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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

Last Updated: Nov 10, 2024