NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (9 submissions)
Last evaluated:: Oct 18, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000238731.21

Allele description [Variation Report for NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)]

NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)

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.5431C>T (p.Gln1811Ter)

Other names:

5550C>T-Gln1811ter

HGVS:

NC_000017.11:g.43047679G>A
NG_005905.2:g.170305C>T
NM_001407571.1:c.5218C>T
NM_001407581.1:c.5497C>T
NM_001407582.1:c.5497C>T
NM_001407583.1:c.5494C>T
NM_001407585.1:c.5494C>T
NM_001407587.1:c.5494C>T
NM_001407590.1:c.5491C>T
NM_001407591.1:c.5491C>T
NM_001407593.1:c.5431C>T
NM_001407594.1:c.5431C>T
NM_001407596.1:c.5431C>T
NM_001407597.1:c.5431C>T
NM_001407598.1:c.5431C>T
NM_001407602.1:c.5431C>T
NM_001407603.1:c.5431C>T
NM_001407605.1:c.5431C>T
NM_001407610.1:c.5428C>T
NM_001407611.1:c.5428C>T
NM_001407612.1:c.5428C>T
NM_001407613.1:c.5428C>T
NM_001407614.1:c.5428C>T
NM_001407615.1:c.5428C>T
NM_001407616.1:c.5428C>T
NM_001407617.1:c.5428C>T
NM_001407618.1:c.5428C>T
NM_001407619.1:c.5428C>T
NM_001407620.1:c.5428C>T
NM_001407621.1:c.5428C>T
NM_001407622.1:c.5428C>T
NM_001407623.1:c.5428C>T
NM_001407624.1:c.5428C>T
NM_001407625.1:c.5428C>T
NM_001407626.1:c.5428C>T
NM_001407627.1:c.5425C>T
NM_001407628.1:c.5425C>T
NM_001407629.1:c.5425C>T
NM_001407630.1:c.5425C>T
NM_001407631.1:c.5425C>T
NM_001407632.1:c.5425C>T
NM_001407633.1:c.5425C>T
NM_001407634.1:c.5425C>T
NM_001407635.1:c.5425C>T
NM_001407636.1:c.5425C>T
NM_001407637.1:c.5425C>T
NM_001407638.1:c.5425C>T
NM_001407639.1:c.5425C>T
NM_001407640.1:c.5425C>T
NM_001407641.1:c.5425C>T
NM_001407642.1:c.5425C>T
NM_001407644.1:c.5422C>T
NM_001407645.1:c.5422C>T
NM_001407646.1:c.5419C>T
NM_001407647.1:c.5416C>T
NM_001407648.1:c.5374C>T
NM_001407649.1:c.5371C>T
NM_001407652.1:c.5353C>T
NM_001407653.1:c.5353C>T
NM_001407654.1:c.5353C>T
NM_001407655.1:c.5353C>T
NM_001407656.1:c.5350C>T
NM_001407657.1:c.5350C>T
NM_001407658.1:c.5350C>T
NM_001407659.1:c.5347C>T
NM_001407660.1:c.5347C>T
NM_001407661.1:c.5347C>T
NM_001407662.1:c.5347C>T
NM_001407663.1:c.5347C>T
NM_001407664.1:c.5308C>T
NM_001407665.1:c.5308C>T
NM_001407666.1:c.5308C>T
NM_001407667.1:c.5308C>T
NM_001407668.1:c.5308C>T
NM_001407669.1:c.5308C>T
NM_001407670.1:c.5305C>T
NM_001407671.1:c.5305C>T
NM_001407672.1:c.5305C>T
NM_001407673.1:c.5305C>T
NM_001407674.1:c.5305C>T
NM_001407675.1:c.5305C>T
NM_001407676.1:c.5305C>T
NM_001407677.1:c.5305C>T
NM_001407678.1:c.5305C>T
NM_001407679.1:c.5305C>T
NM_001407680.1:c.5305C>T
NM_001407681.1:c.5302C>T
NM_001407682.1:c.5302C>T
NM_001407683.1:c.5302C>T
NM_001407684.1:c.5302C>T
NM_001407685.1:c.5302C>T
NM_001407686.1:c.5302C>T
NM_001407687.1:c.5302C>T
NM_001407688.1:c.5302C>T
NM_001407689.1:c.5302C>T
NM_001407690.1:c.5299C>T
NM_001407691.1:c.5299C>T
NM_001407692.1:c.5290C>T
NM_001407694.1:c.5290C>T
NM_001407695.1:c.5290C>T
NM_001407696.1:c.5290C>T
NM_001407697.1:c.5290C>T
NM_001407698.1:c.5290C>T
NM_001407724.1:c.5290C>T
NM_001407725.1:c.5290C>T
NM_001407726.1:c.5290C>T
NM_001407727.1:c.5290C>T
NM_001407728.1:c.5290C>T
NM_001407729.1:c.5290C>T
NM_001407730.1:c.5290C>T
NM_001407731.1:c.5290C>T
NM_001407732.1:c.5287C>T
NM_001407733.1:c.5287C>T
NM_001407734.1:c.5287C>T
NM_001407735.1:c.5287C>T
NM_001407736.1:c.5287C>T
NM_001407737.1:c.5287C>T
NM_001407738.1:c.5287C>T
NM_001407739.1:c.5287C>T
NM_001407740.1:c.5287C>T
NM_001407741.1:c.5287C>T
NM_001407742.1:c.5287C>T
NM_001407743.1:c.5287C>T
NM_001407744.1:c.5287C>T
NM_001407745.1:c.5287C>T
NM_001407746.1:c.5287C>T
NM_001407747.1:c.5287C>T
NM_001407748.1:c.5287C>T
NM_001407749.1:c.5287C>T
NM_001407750.1:c.5287C>T
NM_001407751.1:c.5287C>T
NM_001407752.1:c.5287C>T
NM_001407838.1:c.5284C>T
NM_001407839.1:c.5284C>T
NM_001407841.1:c.5284C>T
NM_001407842.1:c.5284C>T
NM_001407843.1:c.5284C>T
NM_001407844.1:c.5284C>T
NM_001407845.1:c.5284C>T
NM_001407846.1:c.5284C>T
NM_001407847.1:c.5284C>T
NM_001407848.1:c.5284C>T
NM_001407849.1:c.5284C>T
NM_001407850.1:c.5284C>T
NM_001407851.1:c.5284C>T
NM_001407852.1:c.5284C>T
NM_001407853.1:c.5284C>T
NM_001407854.1:c.5357C>T
NM_001407858.1:c.5354C>T
NM_001407859.1:c.5354C>T
NM_001407860.1:c.5354C>T
NM_001407861.1:c.5351C>T
NM_001407862.1:c.5230C>T
NM_001407863.1:c.5227C>T
NM_001407874.1:c.5224C>T
NM_001407875.1:c.5224C>T
NM_001407879.1:c.5221C>T
NM_001407881.1:c.5221C>T
NM_001407882.1:c.5221C>T
NM_001407884.1:c.5221C>T
NM_001407885.1:c.5221C>T
NM_001407886.1:c.5221C>T
NM_001407887.1:c.5221C>T
NM_001407889.1:c.5221C>T
NM_001407894.1:c.5218C>T
NM_001407895.1:c.5218C>T
NM_001407896.1:c.5218C>T
NM_001407897.1:c.5218C>T
NM_001407898.1:c.5218C>T
NM_001407899.1:c.5218C>T
NM_001407900.1:c.5218C>T
NM_001407902.1:c.5218C>T
NM_001407904.1:c.5218C>T
NM_001407906.1:c.5218C>T
NM_001407907.1:c.5218C>T
NM_001407908.1:c.5218C>T
NM_001407909.1:c.5218C>T
NM_001407910.1:c.5218C>T
NM_001407915.1:c.5215C>T
NM_001407916.1:c.5215C>T
NM_001407917.1:c.5215C>T
NM_001407918.1:c.5215C>T
NM_001407919.1:c.5179C>T
NM_001407920.1:c.5167C>T
NM_001407921.1:c.5167C>T
NM_001407922.1:c.5167C>T
NM_001407923.1:c.5167C>T
NM_001407924.1:c.5167C>T
NM_001407925.1:c.5167C>T
NM_001407926.1:c.5167C>T
NM_001407927.1:c.5164C>T
NM_001407928.1:c.5164C>T
NM_001407929.1:c.5164C>T
NM_001407930.1:c.5164C>T
NM_001407931.1:c.5164C>T
NM_001407932.1:c.5164C>T
NM_001407933.1:c.5164C>T
NM_001407934.1:c.5161C>T
NM_001407935.1:c.5161C>T
NM_001407936.1:c.5161C>T
NM_001407937.1:c.5234C>T
NM_001407938.1:c.5234C>T
NM_001407939.1:c.5231C>T
NM_001407940.1:c.5231C>T
NM_001407941.1:c.5228C>T
NM_001407942.1:c.5216C>T
NM_001407943.1:c.5213C>T
NM_001407944.1:c.5213C>T
NM_001407945.1:c.5213C>T
NM_001407946.1:c.5098C>T
NM_001407947.1:c.5098C>T
NM_001407948.1:c.5098C>T
NM_001407949.1:c.5098C>T
NM_001407950.1:c.5095C>T
NM_001407951.1:c.5095C>T
NM_001407952.1:c.5095C>T
NM_001407953.1:c.5095C>T
NM_001407954.1:c.5095C>T
NM_001407955.1:c.5095C>T
NM_001407956.1:c.5092C>T
NM_001407957.1:c.5092C>T
NM_001407958.1:c.5092C>T
NM_001407959.1:c.5050C>T
NM_001407960.1:c.5047C>T
NM_001407962.1:c.5047C>T
NM_001407963.1:c.5044C>T
NM_001407964.1:c.4969C>T
NM_001407965.1:c.4924C>T
NM_001407966.1:c.4543C>T
NM_001407967.1:c.4540C>T
NM_001407968.1:c.2827C>T
NM_001407969.1:c.2824C>T
NM_001407970.1:c.2188C>T
NM_001407971.1:c.2188C>T
NM_001407972.1:c.2185C>T
NM_001407973.1:c.2122C>T
NM_001407974.1:c.2122C>T
NM_001407975.1:c.2122C>T
NM_001407976.1:c.2122C>T
NM_001407977.1:c.2122C>T
NM_001407978.1:c.2122C>T
NM_001407979.1:c.2119C>T
NM_001407980.1:c.2119C>T
NM_001407981.1:c.2119C>T
NM_001407982.1:c.2119C>T
NM_001407983.1:c.2119C>T
NM_001407984.1:c.2119C>T
NM_001407985.1:c.2119C>T
NM_001407986.1:c.2119C>T
NM_001407990.1:c.2119C>T
NM_001407991.1:c.2119C>T
NM_001407992.1:c.2119C>T
NM_001407993.1:c.2119C>T
NM_001408392.1:c.2116C>T
NM_001408396.1:c.2116C>T
NM_001408397.1:c.2116C>T
NM_001408398.1:c.2116C>T
NM_001408399.1:c.2116C>T
NM_001408400.1:c.2116C>T
NM_001408401.1:c.2116C>T
NM_001408402.1:c.2116C>T
NM_001408403.1:c.2116C>T
NM_001408404.1:c.2116C>T
NM_001408406.1:c.2113C>T
NM_001408407.1:c.2113C>T
NM_001408408.1:c.2113C>T
NM_001408409.1:c.2110C>T
NM_001408410.1:c.2047C>T
NM_001408411.1:c.2044C>T
NM_001408412.1:c.2041C>T
NM_001408413.1:c.2041C>T
NM_001408414.1:c.2041C>T
NM_001408415.1:c.2041C>T
NM_001408416.1:c.2041C>T
NM_001408418.1:c.2005C>T
NM_001408419.1:c.2005C>T
NM_001408420.1:c.2005C>T
NM_001408421.1:c.2002C>T
NM_001408422.1:c.2002C>T
NM_001408423.1:c.2002C>T
NM_001408424.1:c.2002C>T
NM_001408425.1:c.1999C>T
NM_001408426.1:c.1999C>T
NM_001408427.1:c.1999C>T
NM_001408428.1:c.1999C>T
NM_001408429.1:c.1999C>T
NM_001408430.1:c.1999C>T
NM_001408431.1:c.1999C>T
NM_001408432.1:c.1996C>T
NM_001408433.1:c.1996C>T
NM_001408434.1:c.1996C>T
NM_001408435.1:c.1996C>T
NM_001408436.1:c.1996C>T
NM_001408437.1:c.1996C>T
NM_001408438.1:c.1996C>T
NM_001408439.1:c.1996C>T
NM_001408440.1:c.1996C>T
NM_001408441.1:c.1996C>T
NM_001408442.1:c.1996C>T
NM_001408443.1:c.1996C>T
NM_001408444.1:c.1996C>T
NM_001408445.1:c.1993C>T
NM_001408446.1:c.1993C>T
NM_001408447.1:c.1993C>T
NM_001408448.1:c.1993C>T
NM_001408450.1:c.1993C>T
NM_001408451.1:c.1987C>T
NM_001408452.1:c.1981C>T
NM_001408453.1:c.1981C>T
NM_001408454.1:c.1981C>T
NM_001408455.1:c.1981C>T
NM_001408456.1:c.1981C>T
NM_001408457.1:c.1981C>T
NM_001408458.1:c.1978C>T
NM_001408459.1:c.1978C>T
NM_001408460.1:c.1978C>T
NM_001408461.1:c.1978C>T
NM_001408462.1:c.1978C>T
NM_001408463.1:c.1978C>T
NM_001408464.1:c.1978C>T
NM_001408465.1:c.1978C>T
NM_001408466.1:c.1978C>T
NM_001408467.1:c.1978C>T
NM_001408468.1:c.1975C>T
NM_001408469.1:c.1975C>T
NM_001408470.1:c.1975C>T
NM_001408472.1:c.2045C>T
NM_001408473.1:c.2042C>T
NM_001408474.1:c.1921C>T
NM_001408475.1:c.1918C>T
NM_001408476.1:c.1918C>T
NM_001408478.1:c.1912C>T
NM_001408479.1:c.1912C>T
NM_001408480.1:c.1912C>T
NM_001408481.1:c.1909C>T
NM_001408482.1:c.1909C>T
NM_001408483.1:c.1909C>T
NM_001408484.1:c.1909C>T
NM_001408485.1:c.1909C>T
NM_001408489.1:c.1909C>T
NM_001408490.1:c.1909C>T
NM_001408491.1:c.1909C>T
NM_001408492.1:c.1906C>T
NM_001408493.1:c.1906C>T
NM_001408494.1:c.1882C>T
NM_001408495.1:c.1876C>T
NM_001408496.1:c.1858C>T
NM_001408497.1:c.1858C>T
NM_001408498.1:c.1858C>T
NM_001408499.1:c.1858C>T
NM_001408500.1:c.1858C>T
NM_001408501.1:c.1858C>T
NM_001408502.1:c.1855C>T
NM_001408503.1:c.1855C>T
NM_001408504.1:c.1855C>T
NM_001408505.1:c.1852C>T
NM_001408506.1:c.1795C>T
NM_001408507.1:c.1792C>T
NM_001408508.1:c.1783C>T
NM_001408509.1:c.1780C>T
NM_001408510.1:c.1741C>T
NM_001408511.1:c.1738C>T
NM_001408512.1:c.1618C>T
NM_001408513.1:c.1591C>T
NM_001408514.1:c.1195C>T
NM_007294.4:c.5431C>TMANE SELECT
NM_007297.4:c.5290C>T
NM_007298.4:c.2119C>T
NM_007299.4:c.2045C>T
NM_007300.4:c.5494C>T
NM_007304.2:c.2119C>T
NP_001394500.1:p.Gln1740Ter
NP_001394510.1:p.Gln1833Ter
NP_001394511.1:p.Gln1833Ter
NP_001394512.1:p.Gln1832Ter
NP_001394514.1:p.Gln1832Ter
NP_001394516.1:p.Gln1832Ter
NP_001394519.1:p.Gln1831Ter
NP_001394520.1:p.Gln1831Ter
NP_001394522.1:p.Gln1811Ter
NP_001394523.1:p.Gln1811Ter
NP_001394525.1:p.Gln1811Ter
NP_001394526.1:p.Gln1811Ter
NP_001394527.1:p.Gln1811Ter
NP_001394531.1:p.Gln1811Ter
NP_001394532.1:p.Gln1811Ter
NP_001394534.1:p.Gln1811Ter
NP_001394539.1:p.Gln1810Ter
NP_001394540.1:p.Gln1810Ter
NP_001394541.1:p.Gln1810Ter
NP_001394542.1:p.Gln1810Ter
NP_001394543.1:p.Gln1810Ter
NP_001394544.1:p.Gln1810Ter
NP_001394545.1:p.Gln1810Ter
NP_001394546.1:p.Gln1810Ter
NP_001394547.1:p.Gln1810Ter
NP_001394548.1:p.Gln1810Ter
NP_001394549.1:p.Gln1810Ter
NP_001394550.1:p.Gln1810Ter
NP_001394551.1:p.Gln1810Ter
NP_001394552.1:p.Gln1810Ter
NP_001394553.1:p.Gln1810Ter
NP_001394554.1:p.Gln1810Ter
NP_001394555.1:p.Gln1810Ter
NP_001394556.1:p.Gln1809Ter
NP_001394557.1:p.Gln1809Ter
NP_001394558.1:p.Gln1809Ter
NP_001394559.1:p.Gln1809Ter
NP_001394560.1:p.Gln1809Ter
NP_001394561.1:p.Gln1809Ter
NP_001394562.1:p.Gln1809Ter
NP_001394563.1:p.Gln1809Ter
NP_001394564.1:p.Gln1809Ter
NP_001394565.1:p.Gln1809Ter
NP_001394566.1:p.Gln1809Ter
NP_001394567.1:p.Gln1809Ter
NP_001394568.1:p.Gln1809Ter
NP_001394569.1:p.Gln1809Ter
NP_001394570.1:p.Gln1809Ter
NP_001394571.1:p.Gln1809Ter
NP_001394573.1:p.Gln1808Ter
NP_001394574.1:p.Gln1808Ter
NP_001394575.1:p.Gln1807Ter
NP_001394576.1:p.Gln1806Ter
NP_001394577.1:p.Gln1792Ter
NP_001394578.1:p.Gln1791Ter
NP_001394581.1:p.Gln1785Ter
NP_001394582.1:p.Gln1785Ter
NP_001394583.1:p.Gln1785Ter
NP_001394584.1:p.Gln1785Ter
NP_001394585.1:p.Gln1784Ter
NP_001394586.1:p.Gln1784Ter
NP_001394587.1:p.Gln1784Ter
NP_001394588.1:p.Gln1783Ter
NP_001394589.1:p.Gln1783Ter
NP_001394590.1:p.Gln1783Ter
NP_001394591.1:p.Gln1783Ter
NP_001394592.1:p.Gln1783Ter
NP_001394593.1:p.Gln1770Ter
NP_001394594.1:p.Gln1770Ter
NP_001394595.1:p.Gln1770Ter
NP_001394596.1:p.Gln1770Ter
NP_001394597.1:p.Gln1770Ter
NP_001394598.1:p.Gln1770Ter
NP_001394599.1:p.Gln1769Ter
NP_001394600.1:p.Gln1769Ter
NP_001394601.1:p.Gln1769Ter
NP_001394602.1:p.Gln1769Ter
NP_001394603.1:p.Gln1769Ter
NP_001394604.1:p.Gln1769Ter
NP_001394605.1:p.Gln1769Ter
NP_001394606.1:p.Gln1769Ter
NP_001394607.1:p.Gln1769Ter
NP_001394608.1:p.Gln1769Ter
NP_001394609.1:p.Gln1769Ter
NP_001394610.1:p.Gln1768Ter
NP_001394611.1:p.Gln1768Ter
NP_001394612.1:p.Gln1768Ter
NP_001394613.1:p.Gln1768Ter
NP_001394614.1:p.Gln1768Ter
NP_001394615.1:p.Gln1768Ter
NP_001394616.1:p.Gln1768Ter
NP_001394617.1:p.Gln1768Ter
NP_001394618.1:p.Gln1768Ter
NP_001394619.1:p.Gln1767Ter
NP_001394620.1:p.Gln1767Ter
NP_001394621.1:p.Gln1764Ter
NP_001394623.1:p.Gln1764Ter
NP_001394624.1:p.Gln1764Ter
NP_001394625.1:p.Gln1764Ter
NP_001394626.1:p.Gln1764Ter
NP_001394627.1:p.Gln1764Ter
NP_001394653.1:p.Gln1764Ter
NP_001394654.1:p.Gln1764Ter
NP_001394655.1:p.Gln1764Ter
NP_001394656.1:p.Gln1764Ter
NP_001394657.1:p.Gln1764Ter
NP_001394658.1:p.Gln1764Ter
NP_001394659.1:p.Gln1764Ter
NP_001394660.1:p.Gln1764Ter
NP_001394661.1:p.Gln1763Ter
NP_001394662.1:p.Gln1763Ter
NP_001394663.1:p.Gln1763Ter
NP_001394664.1:p.Gln1763Ter
NP_001394665.1:p.Gln1763Ter
NP_001394666.1:p.Gln1763Ter
NP_001394667.1:p.Gln1763Ter
NP_001394668.1:p.Gln1763Ter
NP_001394669.1:p.Gln1763Ter
NP_001394670.1:p.Gln1763Ter
NP_001394671.1:p.Gln1763Ter
NP_001394672.1:p.Gln1763Ter
NP_001394673.1:p.Gln1763Ter
NP_001394674.1:p.Gln1763Ter
NP_001394675.1:p.Gln1763Ter
NP_001394676.1:p.Gln1763Ter
NP_001394677.1:p.Gln1763Ter
NP_001394678.1:p.Gln1763Ter
NP_001394679.1:p.Gln1763Ter
NP_001394680.1:p.Gln1763Ter
NP_001394681.1:p.Gln1763Ter
NP_001394767.1:p.Gln1762Ter
NP_001394768.1:p.Gln1762Ter
NP_001394770.1:p.Gln1762Ter
NP_001394771.1:p.Gln1762Ter
NP_001394772.1:p.Gln1762Ter
NP_001394773.1:p.Gln1762Ter
NP_001394774.1:p.Gln1762Ter
NP_001394775.1:p.Gln1762Ter
NP_001394776.1:p.Gln1762Ter
NP_001394777.1:p.Gln1762Ter
NP_001394778.1:p.Gln1762Ter
NP_001394779.1:p.Gln1762Ter
NP_001394780.1:p.Gln1762Ter
NP_001394781.1:p.Gln1762Ter
NP_001394782.1:p.Gln1762Ter
NP_001394783.1:p.Ala1786Val
NP_001394787.1:p.Ala1785Val
NP_001394788.1:p.Ala1785Val
NP_001394789.1:p.Ala1785Val
NP_001394790.1:p.Ala1784Val
NP_001394791.1:p.Gln1744Ter
NP_001394792.1:p.Gln1743Ter
NP_001394803.1:p.Gln1742Ter
NP_001394804.1:p.Gln1742Ter
NP_001394808.1:p.Gln1741Ter
NP_001394810.1:p.Gln1741Ter
NP_001394811.1:p.Gln1741Ter
NP_001394813.1:p.Gln1741Ter
NP_001394814.1:p.Gln1741Ter
NP_001394815.1:p.Gln1741Ter
NP_001394816.1:p.Gln1741Ter
NP_001394818.1:p.Gln1741Ter
NP_001394823.1:p.Gln1740Ter
NP_001394824.1:p.Gln1740Ter
NP_001394825.1:p.Gln1740Ter
NP_001394826.1:p.Gln1740Ter
NP_001394827.1:p.Gln1740Ter
NP_001394828.1:p.Gln1740Ter
NP_001394829.1:p.Gln1740Ter
NP_001394831.1:p.Gln1740Ter
NP_001394833.1:p.Gln1740Ter
NP_001394835.1:p.Gln1740Ter
NP_001394836.1:p.Gln1740Ter
NP_001394837.1:p.Gln1740Ter
NP_001394838.1:p.Gln1740Ter
NP_001394839.1:p.Gln1740Ter
NP_001394844.1:p.Gln1739Ter
NP_001394845.1:p.Gln1739Ter
NP_001394846.1:p.Gln1739Ter
NP_001394847.1:p.Gln1739Ter
NP_001394848.1:p.Gln1727Ter
NP_001394849.1:p.Gln1723Ter
NP_001394850.1:p.Gln1723Ter
NP_001394851.1:p.Gln1723Ter
NP_001394852.1:p.Gln1723Ter
NP_001394853.1:p.Gln1723Ter
NP_001394854.1:p.Gln1723Ter
NP_001394855.1:p.Gln1723Ter
NP_001394856.1:p.Gln1722Ter
NP_001394857.1:p.Gln1722Ter
NP_001394858.1:p.Gln1722Ter
NP_001394859.1:p.Gln1722Ter
NP_001394860.1:p.Gln1722Ter
NP_001394861.1:p.Gln1722Ter
NP_001394862.1:p.Gln1722Ter
NP_001394863.1:p.Gln1721Ter
NP_001394864.1:p.Gln1721Ter
NP_001394865.1:p.Gln1721Ter
NP_001394866.1:p.Ala1745Val
NP_001394867.1:p.Ala1745Val
NP_001394868.1:p.Ala1744Val
NP_001394869.1:p.Ala1744Val
NP_001394870.1:p.Ala1743Val
NP_001394871.1:p.Ala1739Val
NP_001394872.1:p.Ala1738Val
NP_001394873.1:p.Ala1738Val
NP_001394874.1:p.Ala1738Val
NP_001394875.1:p.Gln1700Ter
NP_001394876.1:p.Gln1700Ter
NP_001394877.1:p.Gln1700Ter
NP_001394878.1:p.Gln1700Ter
NP_001394879.1:p.Gln1699Ter
NP_001394880.1:p.Gln1699Ter
NP_001394881.1:p.Gln1699Ter
NP_001394882.1:p.Gln1699Ter
NP_001394883.1:p.Gln1699Ter
NP_001394884.1:p.Gln1699Ter
NP_001394885.1:p.Gln1698Ter
NP_001394886.1:p.Gln1698Ter
NP_001394887.1:p.Gln1698Ter
NP_001394888.1:p.Gln1684Ter
NP_001394889.1:p.Gln1683Ter
NP_001394891.1:p.Gln1683Ter
NP_001394892.1:p.Gln1682Ter
NP_001394893.1:p.Gln1657Ter
NP_001394894.1:p.Gln1642Ter
NP_001394895.1:p.Gln1515Ter
NP_001394896.1:p.Gln1514Ter
NP_001394897.1:p.Gln943Ter
NP_001394898.1:p.Gln942Ter
NP_001394899.1:p.Gln730Ter
NP_001394900.1:p.Gln730Ter
NP_001394901.1:p.Gln729Ter
NP_001394902.1:p.Gln708Ter
NP_001394903.1:p.Gln708Ter
NP_001394904.1:p.Gln708Ter
NP_001394905.1:p.Gln708Ter
NP_001394906.1:p.Gln708Ter
NP_001394907.1:p.Gln708Ter
NP_001394908.1:p.Gln707Ter
NP_001394909.1:p.Gln707Ter
NP_001394910.1:p.Gln707Ter
NP_001394911.1:p.Gln707Ter
NP_001394912.1:p.Gln707Ter
NP_001394913.1:p.Gln707Ter
NP_001394914.1:p.Gln707Ter
NP_001394915.1:p.Gln707Ter
NP_001394919.1:p.Gln707Ter
NP_001394920.1:p.Gln707Ter
NP_001394921.1:p.Gln707Ter
NP_001394922.1:p.Gln707Ter
NP_001395321.1:p.Gln706Ter
NP_001395325.1:p.Gln706Ter
NP_001395326.1:p.Gln706Ter
NP_001395327.1:p.Gln706Ter
NP_001395328.1:p.Gln706Ter
NP_001395329.1:p.Gln706Ter
NP_001395330.1:p.Gln706Ter
NP_001395331.1:p.Gln706Ter
NP_001395332.1:p.Gln706Ter
NP_001395333.1:p.Gln706Ter
NP_001395335.1:p.Gln705Ter
NP_001395336.1:p.Gln705Ter
NP_001395337.1:p.Gln705Ter
NP_001395338.1:p.Gln704Ter
NP_001395339.1:p.Gln683Ter
NP_001395340.1:p.Gln682Ter
NP_001395341.1:p.Gln681Ter
NP_001395342.1:p.Gln681Ter
NP_001395343.1:p.Gln681Ter
NP_001395344.1:p.Gln681Ter
NP_001395345.1:p.Gln681Ter
NP_001395347.1:p.Gln669Ter
NP_001395348.1:p.Gln669Ter
NP_001395349.1:p.Gln669Ter
NP_001395350.1:p.Gln668Ter
NP_001395351.1:p.Gln668Ter
NP_001395352.1:p.Gln668Ter
NP_001395353.1:p.Gln668Ter
NP_001395354.1:p.Gln667Ter
NP_001395355.1:p.Gln667Ter
NP_001395356.1:p.Gln667Ter
NP_001395357.1:p.Gln667Ter
NP_001395358.1:p.Gln667Ter
NP_001395359.1:p.Gln667Ter
NP_001395360.1:p.Gln667Ter
NP_001395361.1:p.Gln666Ter
NP_001395362.1:p.Gln666Ter
NP_001395363.1:p.Gln666Ter
NP_001395364.1:p.Gln666Ter
NP_001395365.1:p.Gln666Ter
NP_001395366.1:p.Gln666Ter
NP_001395367.1:p.Gln666Ter
NP_001395368.1:p.Gln666Ter
NP_001395369.1:p.Gln666Ter
NP_001395370.1:p.Gln666Ter
NP_001395371.1:p.Gln666Ter
NP_001395372.1:p.Gln666Ter
NP_001395373.1:p.Gln666Ter
NP_001395374.1:p.Gln665Ter
NP_001395375.1:p.Gln665Ter
NP_001395376.1:p.Gln665Ter
NP_001395377.1:p.Gln665Ter
NP_001395379.1:p.Gln665Ter
NP_001395380.1:p.Gln663Ter
NP_001395381.1:p.Gln661Ter
NP_001395382.1:p.Gln661Ter
NP_001395383.1:p.Gln661Ter
NP_001395384.1:p.Gln661Ter
NP_001395385.1:p.Gln661Ter
NP_001395386.1:p.Gln661Ter
NP_001395387.1:p.Gln660Ter
NP_001395388.1:p.Gln660Ter
NP_001395389.1:p.Gln660Ter
NP_001395390.1:p.Gln660Ter
NP_001395391.1:p.Gln660Ter
NP_001395392.1:p.Gln660Ter
NP_001395393.1:p.Gln660Ter
NP_001395394.1:p.Gln660Ter
NP_001395395.1:p.Gln660Ter
NP_001395396.1:p.Gln660Ter
NP_001395397.1:p.Gln659Ter
NP_001395398.1:p.Gln659Ter
NP_001395399.1:p.Gln659Ter
NP_001395401.1:p.Ala682Val
NP_001395402.1:p.Ala681Val
NP_001395403.1:p.Gln641Ter
NP_001395404.1:p.Gln640Ter
NP_001395405.1:p.Gln640Ter
NP_001395407.1:p.Gln638Ter
NP_001395408.1:p.Gln638Ter
NP_001395409.1:p.Gln638Ter
NP_001395410.1:p.Gln637Ter
NP_001395411.1:p.Gln637Ter
NP_001395412.1:p.Gln637Ter
NP_001395413.1:p.Gln637Ter
NP_001395414.1:p.Gln637Ter
NP_001395418.1:p.Gln637Ter
NP_001395419.1:p.Gln637Ter
NP_001395420.1:p.Gln637Ter
NP_001395421.1:p.Gln636Ter
NP_001395422.1:p.Gln636Ter
NP_001395423.1:p.Gln628Ter
NP_001395424.1:p.Gln626Ter
NP_001395425.1:p.Gln620Ter
NP_001395426.1:p.Gln620Ter
NP_001395427.1:p.Gln620Ter
NP_001395428.1:p.Gln620Ter
NP_001395429.1:p.Gln620Ter
NP_001395430.1:p.Gln620Ter
NP_001395431.1:p.Gln619Ter
NP_001395432.1:p.Gln619Ter
NP_001395433.1:p.Gln619Ter
NP_001395434.1:p.Gln618Ter
NP_001395435.1:p.Gln599Ter
NP_001395436.1:p.Gln598Ter
NP_001395437.1:p.Gln595Ter
NP_001395438.1:p.Gln594Ter
NP_001395439.1:p.Gln581Ter
NP_001395440.1:p.Gln580Ter
NP_001395441.1:p.Gln540Ter
NP_001395442.1:p.Gln531Ter
NP_001395443.1:p.Gln399Ter
NP_009225.1:p.Gln1811Ter
NP_009225.1:p.Gln1811Ter
NP_009228.2:p.Gln1764Ter
NP_009229.2:p.Gln707Ter
NP_009229.2:p.Gln707Ter
NP_009230.2:p.Ala682Val
NP_009231.2:p.Gln1832Ter
NP_009235.2:p.Gln707Ter
LRG_292t1:c.5431C>T
LRG_292:g.170305C>T
LRG_292p1:p.Gln1811Ter
NC_000017.10:g.41199696G>A
NM_007294.3:c.5431C>T
NM_007298.3:c.2119C>T
NM_007300.3:c.5494C>T
NR_027676.2:n.5608C>T
p.Gln1811*
p.Gln1811X

Protein change:

A1738V

Links:

dbSNP: rs397509283

NCBI 1000 Genomes Browser:

rs397509283

Molecular consequence:

NM_001407854.1:c.5357C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.5354C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.5354C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.5354C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.5351C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.5234C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.5234C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.5231C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.5231C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.5228C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.5216C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.5213C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.5213C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.5213C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.2045C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.2042C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.2045C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.5608C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407571.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.5497C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.5497C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.5494C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.5494C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.5494C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.5491C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.5491C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.5428C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.5425C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.5422C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.5422C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.5419C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.5416C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.5374C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.5371C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.5353C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.5353C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.5353C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.5353C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.5350C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.5350C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.5350C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.5347C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.5347C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.5347C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.5347C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.5347C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.5308C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.5308C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.5308C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.5308C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.5308C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.5308C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.5305C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.5302C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.5299C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.5299C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.5287C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.5284C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.5230C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.5227C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.5224C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.5224C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.5221C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.5218C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.5215C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.5215C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.5215C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.5215C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.5179C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.5167C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.5164C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.5161C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.5161C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.5161C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.5098C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.5098C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.5098C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.5098C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.5095C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.5095C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.5095C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.5095C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.5095C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.5095C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.5092C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.5092C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.5092C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.5050C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.5047C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.5047C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.5044C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.4969C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.4924C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.4543C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.4540C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.2827C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.2824C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.2188C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.2188C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.2185C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.2122C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.2113C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.2113C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.2113C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.2110C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408410.1:c.2047C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.2044C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.2005C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.2005C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.2005C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.2002C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.2002C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.2002C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.2002C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.1993C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408451.1:c.1987C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408452.1:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408453.1:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408454.1:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408455.1:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408456.1:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408457.1:c.1981C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408458.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408459.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408460.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408461.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408462.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408463.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408464.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408465.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408466.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408467.1:c.1978C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408468.1:c.1975C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408469.1:c.1975C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408470.1:c.1975C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.1921C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.1918C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.1918C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408478.1:c.1912C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408479.1:c.1912C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408480.1:c.1912C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408481.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408482.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408483.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408484.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408485.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408489.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408490.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408491.1:c.1909C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408492.1:c.1906C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408493.1:c.1906C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.1882C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.1876C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408496.1:c.1858C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408497.1:c.1858C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408498.1:c.1858C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408499.1:c.1858C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408500.1:c.1858C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408501.1:c.1858C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408502.1:c.1855C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408503.1:c.1855C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408504.1:c.1855C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408505.1:c.1852C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408506.1:c.1795C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408507.1:c.1792C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408508.1:c.1783C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408509.1:c.1780C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408510.1:c.1741C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408511.1:c.1738C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408512.1:c.1618C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408513.1:c.1591C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408514.1:c.1195C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.5431C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.5290C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.5494C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.2119C>T - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

function_uncertain_variant [Sequence Ontology: SO:0002220] - Comment(s)

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Glaucidium brasilianum voucher 1443-89871 cytochrome b (cytb) gene, partial cds;...
Glaucidium brasilianum voucher 1443-89871 cytochrome b (cytb) gene, partial cds; mitochondrial
gi|61677768|gb|AY859373.1|

Nucleotide
Glaucidium brasilianum cytochrome b (cytb) gene, partial cds; mitochondrial.
Glaucidium brasilianum cytochrome b (cytb) gene, partial cds; mitochondrial.
PopSet: 61677768

PopSet
txid78217[orgn] AND "specimen-voucher MVZFC 22507"[All Fields] (1)
PopSet
cytochrome b, partial (mitochondrion) [Glaucidium brasilianum]
cytochrome b, partial (mitochondrion) [Glaucidium brasilianum]
gi|56675299|emb|CAC79825.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000296394	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Oct 10, 2015)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 10644434, 24010542, 22434525, 11773283, 25452441, 26467025, 26295337
SCV000323874	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Oct 18, 2016)	germline	curation	Citation Link,
SCV000326311	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV000785581	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (Sep 25, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24010542, 10644434, 25452441 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf, Citation Link,
SCV001238390	Brotman Baty Institute, University of Washington	no classification provided	not provided	not applicable	in vitro	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV003927205	KCCC/NGS Laboratory, Kuwait Cancer Control Center	no assertion criteria provided	Pathogenic (May 5, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004027815	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 8, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004216990	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 10, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004243915	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Mar 2, 2020)	germline	clinical testing

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	5	not provided	not provided	not provided	clinical testing, curation
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study.

Fostira F, Tsitlaidou M, Papadimitriou C, Pertesi M, Timotheadou E, Stavropoulou AV, Glentis S, Bournakis E, Bobos M, Pectasides D, Papakostas P, Pentheroudakis G, Gogas H, Skarlos P, Samantas E, Bafaloukos D, Kosmidis PA, Koutras A, Yannoukakos D, Konstantopoulou I, Fountzilas G.

Breast Cancer Res Treat. 2012 Jul;134(1):353-62. doi: 10.1007/s10549-012-2021-9. Epub 2012 Mar 21.

PubMed [citation]

PMID:: 22434525

Frequency of BRCA1 dysfunction in ovarian cancer.

Geisler JP, Hatterman-Zogg MA, Rathe JA, Buller RE.

J Natl Cancer Inst. 2002 Jan 2;94(1):61-7.

PubMed [citation]

PMID:: 11773283

See all PubMed Citations (10)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296394.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

#	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 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000323874.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326311.4

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

#	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	5	not provided

From Counsyl, SCV000785581.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

From Brotman Baty Institute, University of Washington, SCV001238390.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

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

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV003927205.1

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

Description

A pathogenic variant was detected in BRCA1 gene. This pathogenic mutation (also known as c.5494C>T), located in coding exon 23 of the BRCA1 gene, results from a C to T substitution at nucleotide position 5494. This changes the amino acid from a glutamine to a stop codon within coding exon 23 . 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. his mutation has been reported in multiple individuals with hereditary breast and/or ovarian cancer (PMID: 11773283, 22434525, 10644434, 24010542, 26300996, 25452441, 16944269, 29752822, 30209399, 29446198, 30825404, 31209999, 29297111, 29805665, 30352249, 31825140). Multiple ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as "pathogenic." Based on the evidence outlined above, the variant was classified as pathogenic. This variant was confirmed by Sanger sequencing .

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

From Institute of Human Genetics, University of Leipzig Medical Center, SCV004027815.1

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

Description

Criteria applied: PVS1_STR,PS4,PM2_SUP

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

From Baylor Genetics, SCV004216990.1

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

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

From BRCAlab, Lund University, SCV004243915.1

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

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

Last Updated: Oct 26, 2024

Relating variation to medicine