NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Sep 26, 2022
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:: RCV000162884.21

Allele description [Variation Report for NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)]

NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)

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.5251C>T (p.Arg1751Ter)

Other names:

p.R1751*:CGA>TGA

HGVS:

NC_000017.11:g.43057078G>A
NG_005905.2:g.160906C>T
NM_001407571.1:c.5038C>T
NM_001407581.1:c.5317C>T
NM_001407582.1:c.5317C>T
NM_001407583.1:c.5314C>T
NM_001407585.1:c.5314C>T
NM_001407587.1:c.5314C>T
NM_001407590.1:c.5311C>T
NM_001407591.1:c.5311C>T
NM_001407593.1:c.5251C>T
NM_001407594.1:c.5251C>T
NM_001407596.1:c.5251C>T
NM_001407597.1:c.5251C>T
NM_001407598.1:c.5251C>T
NM_001407602.1:c.5251C>T
NM_001407603.1:c.5251C>T
NM_001407605.1:c.5251C>T
NM_001407610.1:c.5248C>T
NM_001407611.1:c.5248C>T
NM_001407612.1:c.5248C>T
NM_001407613.1:c.5248C>T
NM_001407614.1:c.5248C>T
NM_001407615.1:c.5248C>T
NM_001407616.1:c.5248C>T
NM_001407617.1:c.5248C>T
NM_001407618.1:c.5248C>T
NM_001407619.1:c.5248C>T
NM_001407620.1:c.5248C>T
NM_001407621.1:c.5248C>T
NM_001407622.1:c.5248C>T
NM_001407623.1:c.5248C>T
NM_001407624.1:c.5248C>T
NM_001407625.1:c.5248C>T
NM_001407626.1:c.5248C>T
NM_001407627.1:c.5245C>T
NM_001407628.1:c.5245C>T
NM_001407629.1:c.5245C>T
NM_001407630.1:c.5245C>T
NM_001407631.1:c.5245C>T
NM_001407632.1:c.5245C>T
NM_001407633.1:c.5245C>T
NM_001407634.1:c.5245C>T
NM_001407635.1:c.5245C>T
NM_001407636.1:c.5245C>T
NM_001407637.1:c.5245C>T
NM_001407638.1:c.5245C>T
NM_001407639.1:c.5245C>T
NM_001407640.1:c.5245C>T
NM_001407641.1:c.5245C>T
NM_001407642.1:c.5245C>T
NM_001407644.1:c.5242C>T
NM_001407645.1:c.5242C>T
NM_001407646.1:c.5239C>T
NM_001407647.1:c.5236C>T
NM_001407648.1:c.5194C>T
NM_001407649.1:c.5191C>T
NM_001407652.1:c.5173C>T
NM_001407653.1:c.5173C>T
NM_001407654.1:c.5173C>T
NM_001407655.1:c.5173C>T
NM_001407656.1:c.5170C>T
NM_001407657.1:c.5170C>T
NM_001407658.1:c.5170C>T
NM_001407659.1:c.5167C>T
NM_001407660.1:c.5167C>T
NM_001407661.1:c.5167C>T
NM_001407662.1:c.5167C>T
NM_001407663.1:c.5167C>T
NM_001407664.1:c.5128C>T
NM_001407665.1:c.5128C>T
NM_001407666.1:c.5128C>T
NM_001407667.1:c.5128C>T
NM_001407668.1:c.5128C>T
NM_001407669.1:c.5128C>T
NM_001407670.1:c.5125C>T
NM_001407671.1:c.5125C>T
NM_001407672.1:c.5125C>T
NM_001407673.1:c.5125C>T
NM_001407674.1:c.5125C>T
NM_001407675.1:c.5125C>T
NM_001407676.1:c.5125C>T
NM_001407677.1:c.5125C>T
NM_001407678.1:c.5125C>T
NM_001407679.1:c.5125C>T
NM_001407680.1:c.5125C>T
NM_001407681.1:c.5122C>T
NM_001407682.1:c.5122C>T
NM_001407683.1:c.5122C>T
NM_001407684.1:c.5251C>T
NM_001407685.1:c.5122C>T
NM_001407686.1:c.5122C>T
NM_001407687.1:c.5122C>T
NM_001407688.1:c.5122C>T
NM_001407689.1:c.5122C>T
NM_001407690.1:c.5119C>T
NM_001407691.1:c.5119C>T
NM_001407692.1:c.5110C>T
NM_001407694.1:c.5110C>T
NM_001407695.1:c.5110C>T
NM_001407696.1:c.5110C>T
NM_001407697.1:c.5110C>T
NM_001407698.1:c.5110C>T
NM_001407724.1:c.5110C>T
NM_001407725.1:c.5110C>T
NM_001407726.1:c.5110C>T
NM_001407727.1:c.5110C>T
NM_001407728.1:c.5110C>T
NM_001407729.1:c.5110C>T
NM_001407730.1:c.5110C>T
NM_001407731.1:c.5110C>T
NM_001407732.1:c.5107C>T
NM_001407733.1:c.5107C>T
NM_001407734.1:c.5107C>T
NM_001407735.1:c.5107C>T
NM_001407736.1:c.5107C>T
NM_001407737.1:c.5107C>T
NM_001407738.1:c.5107C>T
NM_001407739.1:c.5107C>T
NM_001407740.1:c.5107C>T
NM_001407741.1:c.5107C>T
NM_001407742.1:c.5107C>T
NM_001407743.1:c.5107C>T
NM_001407744.1:c.5107C>T
NM_001407745.1:c.5107C>T
NM_001407746.1:c.5107C>T
NM_001407747.1:c.5107C>T
NM_001407748.1:c.5107C>T
NM_001407749.1:c.5107C>T
NM_001407750.1:c.5107C>T
NM_001407751.1:c.5107C>T
NM_001407752.1:c.5107C>T
NM_001407838.1:c.5104C>T
NM_001407839.1:c.5104C>T
NM_001407841.1:c.5104C>T
NM_001407842.1:c.5104C>T
NM_001407843.1:c.5104C>T
NM_001407844.1:c.5104C>T
NM_001407845.1:c.5104C>T
NM_001407846.1:c.5104C>T
NM_001407847.1:c.5104C>T
NM_001407848.1:c.5104C>T
NM_001407849.1:c.5104C>T
NM_001407850.1:c.5104C>T
NM_001407851.1:c.5104C>T
NM_001407852.1:c.5104C>T
NM_001407853.1:c.5104C>T
NM_001407854.1:c.5251C>T
NM_001407858.1:c.5248C>T
NM_001407859.1:c.5248C>T
NM_001407860.1:c.5248C>T
NM_001407861.1:c.5245C>T
NM_001407862.1:c.5050C>T
NM_001407863.1:c.5047C>T
NM_001407874.1:c.5044C>T
NM_001407875.1:c.5044C>T
NM_001407879.1:c.5041C>T
NM_001407881.1:c.5041C>T
NM_001407882.1:c.5041C>T
NM_001407884.1:c.5041C>T
NM_001407885.1:c.5041C>T
NM_001407886.1:c.5041C>T
NM_001407887.1:c.5041C>T
NM_001407889.1:c.5041C>T
NM_001407894.1:c.5038C>T
NM_001407895.1:c.5038C>T
NM_001407896.1:c.5038C>T
NM_001407897.1:c.5038C>T
NM_001407898.1:c.5038C>T
NM_001407899.1:c.5038C>T
NM_001407900.1:c.5038C>T
NM_001407902.1:c.5038C>T
NM_001407904.1:c.5038C>T
NM_001407906.1:c.5038C>T
NM_001407907.1:c.5038C>T
NM_001407908.1:c.5038C>T
NM_001407909.1:c.5038C>T
NM_001407910.1:c.5038C>T
NM_001407915.1:c.5035C>T
NM_001407916.1:c.5035C>T
NM_001407917.1:c.5035C>T
NM_001407918.1:c.5035C>T
NM_001407919.1:c.5128C>T
NM_001407920.1:c.4987C>T
NM_001407921.1:c.4987C>T
NM_001407922.1:c.4987C>T
NM_001407923.1:c.4987C>T
NM_001407924.1:c.4987C>T
NM_001407925.1:c.4987C>T
NM_001407926.1:c.4987C>T
NM_001407927.1:c.4984C>T
NM_001407928.1:c.4984C>T
NM_001407929.1:c.4984C>T
NM_001407930.1:c.4984C>T
NM_001407931.1:c.4984C>T
NM_001407932.1:c.4984C>T
NM_001407933.1:c.4984C>T
NM_001407934.1:c.4981C>T
NM_001407935.1:c.4981C>T
NM_001407936.1:c.4981C>T
NM_001407937.1:c.5128C>T
NM_001407938.1:c.5128C>T
NM_001407939.1:c.5125C>T
NM_001407940.1:c.5125C>T
NM_001407941.1:c.5122C>T
NM_001407942.1:c.5110C>T
NM_001407943.1:c.5107C>T
NM_001407944.1:c.5107C>T
NM_001407945.1:c.5107C>T
NM_001407946.1:c.4918C>T
NM_001407947.1:c.4918C>T
NM_001407948.1:c.4918C>T
NM_001407949.1:c.4918C>T
NM_001407950.1:c.4915C>T
NM_001407951.1:c.4915C>T
NM_001407952.1:c.4915C>T
NM_001407953.1:c.4915C>T
NM_001407954.1:c.4915C>T
NM_001407955.1:c.4915C>T
NM_001407956.1:c.4912C>T
NM_001407957.1:c.4912C>T
NM_001407958.1:c.4912C>T
NM_001407959.1:c.4870C>T
NM_001407960.1:c.4867C>T
NM_001407962.1:c.4867C>T
NM_001407963.1:c.4864C>T
NM_001407964.1:c.4789C>T
NM_001407965.1:c.4744C>T
NM_001407966.1:c.4363C>T
NM_001407967.1:c.4360C>T
NM_001407968.1:c.2647C>T
NM_001407969.1:c.2644C>T
NM_001407970.1:c.2008C>T
NM_001407971.1:c.2008C>T
NM_001407972.1:c.2005C>T
NM_001407973.1:c.1942C>T
NM_001407974.1:c.1942C>T
NM_001407975.1:c.1942C>T
NM_001407976.1:c.1942C>T
NM_001407977.1:c.1942C>T
NM_001407978.1:c.1942C>T
NM_001407979.1:c.1939C>T
NM_001407980.1:c.1939C>T
NM_001407981.1:c.1939C>T
NM_001407982.1:c.1939C>T
NM_001407983.1:c.1939C>T
NM_001407984.1:c.1939C>T
NM_001407985.1:c.1939C>T
NM_001407986.1:c.1939C>T
NM_001407990.1:c.1939C>T
NM_001407991.1:c.1939C>T
NM_001407992.1:c.1939C>T
NM_001407993.1:c.1939C>T
NM_001408392.1:c.1936C>T
NM_001408396.1:c.1936C>T
NM_001408397.1:c.1936C>T
NM_001408398.1:c.1936C>T
NM_001408399.1:c.1936C>T
NM_001408400.1:c.1936C>T
NM_001408401.1:c.1936C>T
NM_001408402.1:c.1936C>T
NM_001408403.1:c.1936C>T
NM_001408404.1:c.1936C>T
NM_001408406.1:c.1933C>T
NM_001408407.1:c.1933C>T
NM_001408408.1:c.1933C>T
NM_001408409.1:c.1930C>T
NM_001408410.1:c.1867C>T
NM_001408411.1:c.1864C>T
NM_001408412.1:c.1861C>T
NM_001408413.1:c.1861C>T
NM_001408414.1:c.1861C>T
NM_001408415.1:c.1861C>T
NM_001408416.1:c.1861C>T
NM_001408418.1:c.1825C>T
NM_001408419.1:c.1825C>T
NM_001408420.1:c.1825C>T
NM_001408421.1:c.1822C>T
NM_001408422.1:c.1822C>T
NM_001408423.1:c.1822C>T
NM_001408424.1:c.1822C>T
NM_001408425.1:c.1819C>T
NM_001408426.1:c.1819C>T
NM_001408427.1:c.1819C>T
NM_001408428.1:c.1819C>T
NM_001408429.1:c.1819C>T
NM_001408430.1:c.1819C>T
NM_001408431.1:c.1819C>T
NM_001408432.1:c.1816C>T
NM_001408433.1:c.1816C>T
NM_001408434.1:c.1816C>T
NM_001408435.1:c.1816C>T
NM_001408436.1:c.1816C>T
NM_001408437.1:c.1816C>T
NM_001408438.1:c.1816C>T
NM_001408439.1:c.1816C>T
NM_001408440.1:c.1816C>T
NM_001408441.1:c.1816C>T
NM_001408442.1:c.1816C>T
NM_001408443.1:c.1816C>T
NM_001408444.1:c.1816C>T
NM_001408445.1:c.1813C>T
NM_001408446.1:c.1813C>T
NM_001408447.1:c.1813C>T
NM_001408448.1:c.1813C>T
NM_001408450.1:c.1813C>T
NM_001408451.1:c.1807C>T
NM_001408452.1:c.1801C>T
NM_001408453.1:c.1801C>T
NM_001408454.1:c.1801C>T
NM_001408455.1:c.1801C>T
NM_001408456.1:c.1801C>T
NM_001408457.1:c.1801C>T
NM_001408458.1:c.1798C>T
NM_001408459.1:c.1798C>T
NM_001408460.1:c.1798C>T
NM_001408461.1:c.1798C>T
NM_001408462.1:c.1798C>T
NM_001408463.1:c.1798C>T
NM_001408464.1:c.1798C>T
NM_001408465.1:c.1798C>T
NM_001408466.1:c.1798C>T
NM_001408467.1:c.1798C>T
NM_001408468.1:c.1795C>T
NM_001408469.1:c.1795C>T
NM_001408470.1:c.1795C>T
NM_001408472.1:c.1939C>T
NM_001408473.1:c.1936C>T
NM_001408474.1:c.1741C>T
NM_001408475.1:c.1738C>T
NM_001408476.1:c.1738C>T
NM_001408478.1:c.1732C>T
NM_001408479.1:c.1732C>T
NM_001408480.1:c.1732C>T
NM_001408481.1:c.1729C>T
NM_001408482.1:c.1729C>T
NM_001408483.1:c.1729C>T
NM_001408484.1:c.1729C>T
NM_001408485.1:c.1729C>T
NM_001408489.1:c.1729C>T
NM_001408490.1:c.1729C>T
NM_001408491.1:c.1729C>T
NM_001408492.1:c.1726C>T
NM_001408493.1:c.1726C>T
NM_001408494.1:c.1702C>T
NM_001408495.1:c.1696C>T
NM_001408496.1:c.1678C>T
NM_001408497.1:c.1678C>T
NM_001408498.1:c.1678C>T
NM_001408499.1:c.1678C>T
NM_001408500.1:c.1678C>T
NM_001408501.1:c.1678C>T
NM_001408502.1:c.1675C>T
NM_001408503.1:c.1675C>T
NM_001408504.1:c.1675C>T
NM_001408505.1:c.1672C>T
NM_001408506.1:c.1615C>T
NM_001408507.1:c.1612C>T
NM_001408508.1:c.1603C>T
NM_001408509.1:c.1600C>T
NM_001408510.1:c.1561C>T
NM_001408511.1:c.1558C>T
NM_001408512.1:c.1438C>T
NM_001408513.1:c.1411C>T
NM_001408514.1:c.1015C>T
NM_007294.4:c.5251C>TMANE SELECT
NM_007297.4:c.5110C>T
NM_007298.4:c.1939C>T
NM_007299.4:c.1939C>T
NM_007300.4:c.5314C>T
NM_007304.2:c.1939C>T
NP_001394500.1:p.Arg1680Ter
NP_001394510.1:p.Arg1773Ter
NP_001394511.1:p.Arg1773Ter
NP_001394512.1:p.Arg1772Ter
NP_001394514.1:p.Arg1772Ter
NP_001394516.1:p.Arg1772Ter
NP_001394519.1:p.Arg1771Ter
NP_001394520.1:p.Arg1771Ter
NP_001394522.1:p.Arg1751Ter
NP_001394523.1:p.Arg1751Ter
NP_001394525.1:p.Arg1751Ter
NP_001394526.1:p.Arg1751Ter
NP_001394527.1:p.Arg1751Ter
NP_001394531.1:p.Arg1751Ter
NP_001394532.1:p.Arg1751Ter
NP_001394534.1:p.Arg1751Ter
NP_001394539.1:p.Arg1750Ter
NP_001394540.1:p.Arg1750Ter
NP_001394541.1:p.Arg1750Ter
NP_001394542.1:p.Arg1750Ter
NP_001394543.1:p.Arg1750Ter
NP_001394544.1:p.Arg1750Ter
NP_001394545.1:p.Arg1750Ter
NP_001394546.1:p.Arg1750Ter
NP_001394547.1:p.Arg1750Ter
NP_001394548.1:p.Arg1750Ter
NP_001394549.1:p.Arg1750Ter
NP_001394550.1:p.Arg1750Ter
NP_001394551.1:p.Arg1750Ter
NP_001394552.1:p.Arg1750Ter
NP_001394553.1:p.Arg1750Ter
NP_001394554.1:p.Arg1750Ter
NP_001394555.1:p.Arg1750Ter
NP_001394556.1:p.Arg1749Ter
NP_001394557.1:p.Arg1749Ter
NP_001394558.1:p.Arg1749Ter
NP_001394559.1:p.Arg1749Ter
NP_001394560.1:p.Arg1749Ter
NP_001394561.1:p.Arg1749Ter
NP_001394562.1:p.Arg1749Ter
NP_001394563.1:p.Arg1749Ter
NP_001394564.1:p.Arg1749Ter
NP_001394565.1:p.Arg1749Ter
NP_001394566.1:p.Arg1749Ter
NP_001394567.1:p.Arg1749Ter
NP_001394568.1:p.Arg1749Ter
NP_001394569.1:p.Arg1749Ter
NP_001394570.1:p.Arg1749Ter
NP_001394571.1:p.Arg1749Ter
NP_001394573.1:p.Arg1748Ter
NP_001394574.1:p.Arg1748Ter
NP_001394575.1:p.Arg1747Ter
NP_001394576.1:p.Arg1746Ter
NP_001394577.1:p.Arg1732Ter
NP_001394578.1:p.Arg1731Ter
NP_001394581.1:p.Arg1725Ter
NP_001394582.1:p.Arg1725Ter
NP_001394583.1:p.Arg1725Ter
NP_001394584.1:p.Arg1725Ter
NP_001394585.1:p.Arg1724Ter
NP_001394586.1:p.Arg1724Ter
NP_001394587.1:p.Arg1724Ter
NP_001394588.1:p.Arg1723Ter
NP_001394589.1:p.Arg1723Ter
NP_001394590.1:p.Arg1723Ter
NP_001394591.1:p.Arg1723Ter
NP_001394592.1:p.Arg1723Ter
NP_001394593.1:p.Arg1710Ter
NP_001394594.1:p.Arg1710Ter
NP_001394595.1:p.Arg1710Ter
NP_001394596.1:p.Arg1710Ter
NP_001394597.1:p.Arg1710Ter
NP_001394598.1:p.Arg1710Ter
NP_001394599.1:p.Arg1709Ter
NP_001394600.1:p.Arg1709Ter
NP_001394601.1:p.Arg1709Ter
NP_001394602.1:p.Arg1709Ter
NP_001394603.1:p.Arg1709Ter
NP_001394604.1:p.Arg1709Ter
NP_001394605.1:p.Arg1709Ter
NP_001394606.1:p.Arg1709Ter
NP_001394607.1:p.Arg1709Ter
NP_001394608.1:p.Arg1709Ter
NP_001394609.1:p.Arg1709Ter
NP_001394610.1:p.Arg1708Ter
NP_001394611.1:p.Arg1708Ter
NP_001394612.1:p.Arg1708Ter
NP_001394613.1:p.Arg1751Ter
NP_001394614.1:p.Arg1708Ter
NP_001394615.1:p.Arg1708Ter
NP_001394616.1:p.Arg1708Ter
NP_001394617.1:p.Arg1708Ter
NP_001394618.1:p.Arg1708Ter
NP_001394619.1:p.Arg1707Ter
NP_001394620.1:p.Arg1707Ter
NP_001394621.1:p.Arg1704Ter
NP_001394623.1:p.Arg1704Ter
NP_001394624.1:p.Arg1704Ter
NP_001394625.1:p.Arg1704Ter
NP_001394626.1:p.Arg1704Ter
NP_001394627.1:p.Arg1704Ter
NP_001394653.1:p.Arg1704Ter
NP_001394654.1:p.Arg1704Ter
NP_001394655.1:p.Arg1704Ter
NP_001394656.1:p.Arg1704Ter
NP_001394657.1:p.Arg1704Ter
NP_001394658.1:p.Arg1704Ter
NP_001394659.1:p.Arg1704Ter
NP_001394660.1:p.Arg1704Ter
NP_001394661.1:p.Arg1703Ter
NP_001394662.1:p.Arg1703Ter
NP_001394663.1:p.Arg1703Ter
NP_001394664.1:p.Arg1703Ter
NP_001394665.1:p.Arg1703Ter
NP_001394666.1:p.Arg1703Ter
NP_001394667.1:p.Arg1703Ter
NP_001394668.1:p.Arg1703Ter
NP_001394669.1:p.Arg1703Ter
NP_001394670.1:p.Arg1703Ter
NP_001394671.1:p.Arg1703Ter
NP_001394672.1:p.Arg1703Ter
NP_001394673.1:p.Arg1703Ter
NP_001394674.1:p.Arg1703Ter
NP_001394675.1:p.Arg1703Ter
NP_001394676.1:p.Arg1703Ter
NP_001394677.1:p.Arg1703Ter
NP_001394678.1:p.Arg1703Ter
NP_001394679.1:p.Arg1703Ter
NP_001394680.1:p.Arg1703Ter
NP_001394681.1:p.Arg1703Ter
NP_001394767.1:p.Arg1702Ter
NP_001394768.1:p.Arg1702Ter
NP_001394770.1:p.Arg1702Ter
NP_001394771.1:p.Arg1702Ter
NP_001394772.1:p.Arg1702Ter
NP_001394773.1:p.Arg1702Ter
NP_001394774.1:p.Arg1702Ter
NP_001394775.1:p.Arg1702Ter
NP_001394776.1:p.Arg1702Ter
NP_001394777.1:p.Arg1702Ter
NP_001394778.1:p.Arg1702Ter
NP_001394779.1:p.Arg1702Ter
NP_001394780.1:p.Arg1702Ter
NP_001394781.1:p.Arg1702Ter
NP_001394782.1:p.Arg1702Ter
NP_001394783.1:p.Arg1751Ter
NP_001394787.1:p.Arg1750Ter
NP_001394788.1:p.Arg1750Ter
NP_001394789.1:p.Arg1750Ter
NP_001394790.1:p.Arg1749Ter
NP_001394791.1:p.Arg1684Ter
NP_001394792.1:p.Arg1683Ter
NP_001394803.1:p.Arg1682Ter
NP_001394804.1:p.Arg1682Ter
NP_001394808.1:p.Arg1681Ter
NP_001394810.1:p.Arg1681Ter
NP_001394811.1:p.Arg1681Ter
NP_001394813.1:p.Arg1681Ter
NP_001394814.1:p.Arg1681Ter
NP_001394815.1:p.Arg1681Ter
NP_001394816.1:p.Arg1681Ter
NP_001394818.1:p.Arg1681Ter
NP_001394823.1:p.Arg1680Ter
NP_001394824.1:p.Arg1680Ter
NP_001394825.1:p.Arg1680Ter
NP_001394826.1:p.Arg1680Ter
NP_001394827.1:p.Arg1680Ter
NP_001394828.1:p.Arg1680Ter
NP_001394829.1:p.Arg1680Ter
NP_001394831.1:p.Arg1680Ter
NP_001394833.1:p.Arg1680Ter
NP_001394835.1:p.Arg1680Ter
NP_001394836.1:p.Arg1680Ter
NP_001394837.1:p.Arg1680Ter
NP_001394838.1:p.Arg1680Ter
NP_001394839.1:p.Arg1680Ter
NP_001394844.1:p.Arg1679Ter
NP_001394845.1:p.Arg1679Ter
NP_001394846.1:p.Arg1679Ter
NP_001394847.1:p.Arg1679Ter
NP_001394848.1:p.Arg1710Ter
NP_001394849.1:p.Arg1663Ter
NP_001394850.1:p.Arg1663Ter
NP_001394851.1:p.Arg1663Ter
NP_001394852.1:p.Arg1663Ter
NP_001394853.1:p.Arg1663Ter
NP_001394854.1:p.Arg1663Ter
NP_001394855.1:p.Arg1663Ter
NP_001394856.1:p.Arg1662Ter
NP_001394857.1:p.Arg1662Ter
NP_001394858.1:p.Arg1662Ter
NP_001394859.1:p.Arg1662Ter
NP_001394860.1:p.Arg1662Ter
NP_001394861.1:p.Arg1662Ter
NP_001394862.1:p.Arg1662Ter
NP_001394863.1:p.Arg1661Ter
NP_001394864.1:p.Arg1661Ter
NP_001394865.1:p.Arg1661Ter
NP_001394866.1:p.Arg1710Ter
NP_001394867.1:p.Arg1710Ter
NP_001394868.1:p.Arg1709Ter
NP_001394869.1:p.Arg1709Ter
NP_001394870.1:p.Arg1708Ter
NP_001394871.1:p.Arg1704Ter
NP_001394872.1:p.Arg1703Ter
NP_001394873.1:p.Arg1703Ter
NP_001394874.1:p.Arg1703Ter
NP_001394875.1:p.Arg1640Ter
NP_001394876.1:p.Arg1640Ter
NP_001394877.1:p.Arg1640Ter
NP_001394878.1:p.Arg1640Ter
NP_001394879.1:p.Arg1639Ter
NP_001394880.1:p.Arg1639Ter
NP_001394881.1:p.Arg1639Ter
NP_001394882.1:p.Arg1639Ter
NP_001394883.1:p.Arg1639Ter
NP_001394884.1:p.Arg1639Ter
NP_001394885.1:p.Arg1638Ter
NP_001394886.1:p.Arg1638Ter
NP_001394887.1:p.Arg1638Ter
NP_001394888.1:p.Arg1624Ter
NP_001394889.1:p.Arg1623Ter
NP_001394891.1:p.Arg1623Ter
NP_001394892.1:p.Arg1622Ter
NP_001394893.1:p.Arg1597Ter
NP_001394894.1:p.Arg1582Ter
NP_001394895.1:p.Arg1455Ter
NP_001394896.1:p.Arg1454Ter
NP_001394897.1:p.Arg883Ter
NP_001394898.1:p.Arg882Ter
NP_001394899.1:p.Arg670Ter
NP_001394900.1:p.Arg670Ter
NP_001394901.1:p.Arg669Ter
NP_001394902.1:p.Arg648Ter
NP_001394903.1:p.Arg648Ter
NP_001394904.1:p.Arg648Ter
NP_001394905.1:p.Arg648Ter
NP_001394906.1:p.Arg648Ter
NP_001394907.1:p.Arg648Ter
NP_001394908.1:p.Arg647Ter
NP_001394909.1:p.Arg647Ter
NP_001394910.1:p.Arg647Ter
NP_001394911.1:p.Arg647Ter
NP_001394912.1:p.Arg647Ter
NP_001394913.1:p.Arg647Ter
NP_001394914.1:p.Arg647Ter
NP_001394915.1:p.Arg647Ter
NP_001394919.1:p.Arg647Ter
NP_001394920.1:p.Arg647Ter
NP_001394921.1:p.Arg647Ter
NP_001394922.1:p.Arg647Ter
NP_001395321.1:p.Arg646Ter
NP_001395325.1:p.Arg646Ter
NP_001395326.1:p.Arg646Ter
NP_001395327.1:p.Arg646Ter
NP_001395328.1:p.Arg646Ter
NP_001395329.1:p.Arg646Ter
NP_001395330.1:p.Arg646Ter
NP_001395331.1:p.Arg646Ter
NP_001395332.1:p.Arg646Ter
NP_001395333.1:p.Arg646Ter
NP_001395335.1:p.Arg645Ter
NP_001395336.1:p.Arg645Ter
NP_001395337.1:p.Arg645Ter
NP_001395338.1:p.Arg644Ter
NP_001395339.1:p.Arg623Ter
NP_001395340.1:p.Arg622Ter
NP_001395341.1:p.Arg621Ter
NP_001395342.1:p.Arg621Ter
NP_001395343.1:p.Arg621Ter
NP_001395344.1:p.Arg621Ter
NP_001395345.1:p.Arg621Ter
NP_001395347.1:p.Arg609Ter
NP_001395348.1:p.Arg609Ter
NP_001395349.1:p.Arg609Ter
NP_001395350.1:p.Arg608Ter
NP_001395351.1:p.Arg608Ter
NP_001395352.1:p.Arg608Ter
NP_001395353.1:p.Arg608Ter
NP_001395354.1:p.Arg607Ter
NP_001395355.1:p.Arg607Ter
NP_001395356.1:p.Arg607Ter
NP_001395357.1:p.Arg607Ter
NP_001395358.1:p.Arg607Ter
NP_001395359.1:p.Arg607Ter
NP_001395360.1:p.Arg607Ter
NP_001395361.1:p.Arg606Ter
NP_001395362.1:p.Arg606Ter
NP_001395363.1:p.Arg606Ter
NP_001395364.1:p.Arg606Ter
NP_001395365.1:p.Arg606Ter
NP_001395366.1:p.Arg606Ter
NP_001395367.1:p.Arg606Ter
NP_001395368.1:p.Arg606Ter
NP_001395369.1:p.Arg606Ter
NP_001395370.1:p.Arg606Ter
NP_001395371.1:p.Arg606Ter
NP_001395372.1:p.Arg606Ter
NP_001395373.1:p.Arg606Ter
NP_001395374.1:p.Arg605Ter
NP_001395375.1:p.Arg605Ter
NP_001395376.1:p.Arg605Ter
NP_001395377.1:p.Arg605Ter
NP_001395379.1:p.Arg605Ter
NP_001395380.1:p.Arg603Ter
NP_001395381.1:p.Arg601Ter
NP_001395382.1:p.Arg601Ter
NP_001395383.1:p.Arg601Ter
NP_001395384.1:p.Arg601Ter
NP_001395385.1:p.Arg601Ter
NP_001395386.1:p.Arg601Ter
NP_001395387.1:p.Arg600Ter
NP_001395388.1:p.Arg600Ter
NP_001395389.1:p.Arg600Ter
NP_001395390.1:p.Arg600Ter
NP_001395391.1:p.Arg600Ter
NP_001395392.1:p.Arg600Ter
NP_001395393.1:p.Arg600Ter
NP_001395394.1:p.Arg600Ter
NP_001395395.1:p.Arg600Ter
NP_001395396.1:p.Arg600Ter
NP_001395397.1:p.Arg599Ter
NP_001395398.1:p.Arg599Ter
NP_001395399.1:p.Arg599Ter
NP_001395401.1:p.Arg647Ter
NP_001395402.1:p.Arg646Ter
NP_001395403.1:p.Arg581Ter
NP_001395404.1:p.Arg580Ter
NP_001395405.1:p.Arg580Ter
NP_001395407.1:p.Arg578Ter
NP_001395408.1:p.Arg578Ter
NP_001395409.1:p.Arg578Ter
NP_001395410.1:p.Arg577Ter
NP_001395411.1:p.Arg577Ter
NP_001395412.1:p.Arg577Ter
NP_001395413.1:p.Arg577Ter
NP_001395414.1:p.Arg577Ter
NP_001395418.1:p.Arg577Ter
NP_001395419.1:p.Arg577Ter
NP_001395420.1:p.Arg577Ter
NP_001395421.1:p.Arg576Ter
NP_001395422.1:p.Arg576Ter
NP_001395423.1:p.Arg568Ter
NP_001395424.1:p.Arg566Ter
NP_001395425.1:p.Arg560Ter
NP_001395426.1:p.Arg560Ter
NP_001395427.1:p.Arg560Ter
NP_001395428.1:p.Arg560Ter
NP_001395429.1:p.Arg560Ter
NP_001395430.1:p.Arg560Ter
NP_001395431.1:p.Arg559Ter
NP_001395432.1:p.Arg559Ter
NP_001395433.1:p.Arg559Ter
NP_001395434.1:p.Arg558Ter
NP_001395435.1:p.Arg539Ter
NP_001395436.1:p.Arg538Ter
NP_001395437.1:p.Arg535Ter
NP_001395438.1:p.Arg534Ter
NP_001395439.1:p.Arg521Ter
NP_001395440.1:p.Arg520Ter
NP_001395441.1:p.Arg480Ter
NP_001395442.1:p.Arg471Ter
NP_001395443.1:p.Arg339Ter
NP_009225.1:p.Arg1751Ter
NP_009225.1:p.Arg1751Ter
NP_009228.2:p.Arg1704Ter
NP_009229.2:p.Arg647Ter
NP_009229.2:p.Arg647Ter
NP_009230.2:p.Arg647Ter
NP_009231.2:p.Arg1772Ter
NP_009235.2:p.Arg647Ter
LRG_292t1:c.5251C>T
LRG_292:g.160906C>T
LRG_292p1:p.Arg1751Ter
NC_000017.10:g.41209095G>A
NM_007294.3:c.5251C>T
NM_007298.3:c.1939C>T
NM_007300.4:c.5314C>T
NR_027676.2:n.5428C>T
U14680.1:n.5370C>T
p.Arg1751*
p.Arg1751X
p.R1751*

Nucleotide change:

5370C>T

Protein change:

R1454*

Links:

dbSNP: rs80357123

NCBI 1000 Genomes Browser:

rs80357123

Molecular consequence:

NR_027676.2:n.5428C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407571.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.5317C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.5317C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.5314C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.5314C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.5314C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.5311C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.5311C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.5251C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.5251C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.5251C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.5251C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.5251C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.5251C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.5251C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.5251C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.5242C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.5242C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.5239C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.5236C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.5194C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.5191C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.5173C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.5173C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.5173C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.5173C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.5170C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.5170C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.5170C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.5128C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.5128C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.5128C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.5128C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.5128C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.5128C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.5125C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.5125C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.5125C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.5125C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.5125C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.5125C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.5125C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.5125C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.5125C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.5125C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.5125C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.5122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.5122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.5122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.5251C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.5122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.5122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.5122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.5122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.5122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.5119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.5119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.5104C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.5251C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.5248C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.5245C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.5050C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.5047C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.5044C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.5044C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.5041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.5041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.5041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.5041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.5041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.5041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.5041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.5041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.5038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.5035C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.5035C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.5035C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.5035C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.5128C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.4987C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.4987C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.4987C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.4987C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.4987C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.4987C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.4987C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.4984C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.4984C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.4984C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.4984C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.4984C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.4984C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.4984C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.4981C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.4981C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.4981C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.5128C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.5128C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.5125C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.5125C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.5122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.5107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.4918C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.4918C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.4918C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.4918C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.4915C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.4915C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.4915C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.4915C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.4915C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.4915C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.4912C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.4912C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.4912C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.4870C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.4867C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.4867C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.4864C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.4789C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.4744C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.4363C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.4360C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.2647C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.2644C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.2008C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.2008C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.2005C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.1942C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.1942C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.1942C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.1942C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.1942C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.1942C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.1936C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.1936C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.1936C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.1936C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.1936C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.1936C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.1936C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.1936C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.1936C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.1936C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.1933C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.1933C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.1933C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.1930C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408410.1:c.1867C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.1864C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.1861C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.1861C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.1861C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.1861C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.1861C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.1825C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.1825C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.1825C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.1822C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.1822C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.1822C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.1822C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.1819C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.1819C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.1819C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.1819C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.1819C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.1819C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.1819C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.1816C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.1816C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.1816C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.1816C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.1816C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.1816C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.1816C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.1816C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.1816C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.1816C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.1816C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.1816C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.1816C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.1813C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.1813C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.1813C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.1813C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.1813C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408451.1:c.1807C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408452.1:c.1801C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408453.1:c.1801C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408454.1:c.1801C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408455.1:c.1801C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408456.1:c.1801C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408457.1:c.1801C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408458.1:c.1798C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408459.1:c.1798C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408460.1:c.1798C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408461.1:c.1798C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408462.1:c.1798C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408463.1:c.1798C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408464.1:c.1798C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408465.1:c.1798C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408466.1:c.1798C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408467.1:c.1798C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408468.1:c.1795C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408469.1:c.1795C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408470.1:c.1795C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408472.1:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408473.1:c.1936C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.1741C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.1738C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.1738C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408478.1:c.1732C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408479.1:c.1732C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408480.1:c.1732C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408481.1:c.1729C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408482.1:c.1729C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408483.1:c.1729C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408484.1:c.1729C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408485.1:c.1729C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408489.1:c.1729C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408490.1:c.1729C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408491.1:c.1729C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408492.1:c.1726C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408493.1:c.1726C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.1702C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.1696C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408496.1:c.1678C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408497.1:c.1678C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408498.1:c.1678C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408499.1:c.1678C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408500.1:c.1678C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408501.1:c.1678C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408502.1:c.1675C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408503.1:c.1675C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408504.1:c.1675C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408505.1:c.1672C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408506.1:c.1615C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408507.1:c.1612C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408508.1:c.1603C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408509.1:c.1600C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408510.1:c.1561C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408511.1:c.1558C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408512.1:c.1438C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408513.1:c.1411C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408514.1:c.1015C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.5251C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.5110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007299.4:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.5314C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.1939C>T - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

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

Recent activity

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Schizosaccharomyces pombe ADAM family peptidase Mde10 (mde10), partial mRNA
Schizosaccharomyces pombe ADAM family peptidase Mde10 (mde10), partial mRNA
gi|429242169|ref|NM_001018905.2|

Nucleotide
Overview of Trends in Use and Quality of CRC Screening - Enhancing the Use and Q...
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000213371	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Nov 30, 2021)	germline	clinical testing	PubMed (17) [See all records that cite these PMIDs] 16528604, 18821011, 20614009, 21232165, 21324516, 23199084, 24010542, 24528374, 26287763, 26779294, 27393621, 27425403, 27433846, 27836010, 28324225, 30209399, 9361038 Citation Link,
SCV000683276	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 26, 2022)	germline	clinical testing	PubMed (18) [See all records that cite these PMIDs] 12142080, 17453335, 18159056, 21324516, 23469205, 23536787, 24010542, 25428789, 26287763, 27393621, 27433846, 29446198, 30209399, 30287823, 32856862, 33471991, 35205313, 25741868
SCV002537828	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Pathogenic (Feb 5, 2022)	germline	curation	PubMed (6) [See all records that cite these PMIDs] 29310832, 29161300, 30199306, 33471991, 30209399, 29446198 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000213371

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Nov 30, 2021)

germline

clinical testing

PubMed (17)
[See all records that cite these PMIDs]

Citation Link,

SCV000683276

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 26, 2022)

germline

clinical testing

PubMed (18)
[See all records that cite these PMIDs]

SCV002537828

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Pathogenic
(Feb 5, 2022)

germline

curation

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, curation

Citations

PubMed

BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families.

Sinilnikova OM, Mazoyer S, Bonnardel C, Lynch HT, Narod SA, Lenoir GM.

Fam Cancer. 2006;5(1):15-20. Review.

PubMed [citation]

PMID:: 16528604

Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy.

Papi L, Putignano AL, Congregati C, Zanna I, Sera F, Morrone D, Falchetti M, Turco MR, Ottini L, Palli D, Genuardi M.

Breast Cancer Res Treat. 2009 Oct;117(3):497-504. doi: 10.1007/s10549-008-0190-3. Epub 2008 Sep 27.

PubMed [citation]

PMID:: 18821011

See all PubMed Citations (32)

Details of each submission

From Ambry Genetics, SCV000213371.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (17)

Description

The p.R1751* pathogenic mutation (also known as c.5251C>T), located in coding exon 18 of the BRCA1 gene, results from a C to T substitution at nucleotide position 5251. This changes the amino acid from an arginine to a stop codon within coding exon 18. This mutation has been reported in multiple breast and/or ovarian cancer families from various ethnicities to date and has been described as a European founder mutation (Vehmanen P et al. Hum. Mol. Genet. 1997 Dec;6:2309-15; Sinilnikova OM et al. Fam. Cancer. 2006;5:15-20; Papi L et al. Breast Cancer Res. Treat. 2009 Oct;117:497-504; Janaviius R. EPMA J. 2010 Sep;1:397-412; Stegel V et al. BMC Med. Genet. 2011 Jan;12:9; Zhang S et al. Gynecol. Oncol. 2011 May;121:353-7; Konstantopoulou I et al. Clin. Genet. 2014 Jan;85:36-42; Szwiec M et al. Clin. Genet. 2015 Mar;87:288-92; Zhang J et al. Breast Cancer Res. Treat. 2016 Aug;158:455-62; Alemar B et al. Cancer Genet. 2016 Sep;209:417-422; Rebbeck TR et al. Breast Cancer Res. 2016 Nov;18:112; Meisel C et al. Arch. Gynecol. Obstet. 2017 May;295:1227-1238). This mutation has also been reported in gastric cancer patients (awniczak M et al. Hered Cancer Clin Pract. 2016 Jan;14:3), as well as in a study of men with metastatic prostate cancer (Pritchard CC et al. N. Engl. J. Med. 2016 Aug;375:443-53). One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). Of note, this mutation is also designated as 5370C>T in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Color Diagnostics, LLC DBA Color Health, SCV000683276.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (18)

Description

This variant changes 1 nucleotide in exon 19 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. A functional study reported that this variant impacts BRCA1 function in a haploid human cell proliferation assay (PMID: 30209399). This variant has been reported in over 20 individuals affected with breast and ovarian cancer (PMID: 12142080, 17453335, 18159056, 21324516, 23469205, 23536787, 24010542, 25428789, 26287763, 27393621, 30287823, 32856862, 33471991, 35205313; Leiden Open Variation Database DB-ID BRCA1_000435) and an individual affected with prostate cancer (PMID: 27433846). This variant has been identified in 94 families among the CIMBA participants (PMID: 29446198) (https://cimba.ccge.medschl.cam.ac.uk/). This variant has been identified in 4/282892 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Sema4, Sema4, SCV002537828.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (6)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine