NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic/Likely pathogenic (9 submissions)
Last evaluated:: Jun 21, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000077606.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)]

NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)

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.5165C>T (p.Ser1722Phe)

HGVS:

NC_000017.11:g.43063361G>A
NG_005905.2:g.154623C>T
NM_001407571.1:c.4952C>T
NM_001407581.1:c.5231C>T
NM_001407582.1:c.5231C>T
NM_001407583.1:c.5228C>T
NM_001407585.1:c.5228C>T
NM_001407587.1:c.5228C>T
NM_001407590.1:c.5225C>T
NM_001407591.1:c.5225C>T
NM_001407593.1:c.5165C>T
NM_001407594.1:c.5165C>T
NM_001407596.1:c.5165C>T
NM_001407597.1:c.5165C>T
NM_001407598.1:c.5165C>T
NM_001407602.1:c.5165C>T
NM_001407603.1:c.5165C>T
NM_001407605.1:c.5165C>T
NM_001407610.1:c.5162C>T
NM_001407611.1:c.5162C>T
NM_001407612.1:c.5162C>T
NM_001407613.1:c.5162C>T
NM_001407614.1:c.5162C>T
NM_001407615.1:c.5162C>T
NM_001407616.1:c.5162C>T
NM_001407617.1:c.5162C>T
NM_001407618.1:c.5162C>T
NM_001407619.1:c.5162C>T
NM_001407620.1:c.5162C>T
NM_001407621.1:c.5162C>T
NM_001407622.1:c.5162C>T
NM_001407623.1:c.5162C>T
NM_001407624.1:c.5162C>T
NM_001407625.1:c.5162C>T
NM_001407626.1:c.5162C>T
NM_001407627.1:c.5159C>T
NM_001407628.1:c.5159C>T
NM_001407629.1:c.5159C>T
NM_001407630.1:c.5159C>T
NM_001407631.1:c.5159C>T
NM_001407632.1:c.5159C>T
NM_001407633.1:c.5159C>T
NM_001407634.1:c.5159C>T
NM_001407635.1:c.5159C>T
NM_001407636.1:c.5159C>T
NM_001407637.1:c.5159C>T
NM_001407638.1:c.5159C>T
NM_001407639.1:c.5159C>T
NM_001407640.1:c.5159C>T
NM_001407641.1:c.5159C>T
NM_001407642.1:c.5159C>T
NM_001407644.1:c.5156C>T
NM_001407645.1:c.5156C>T
NM_001407646.1:c.5153C>T
NM_001407647.1:c.5150C>T
NM_001407648.1:c.5108C>T
NM_001407649.1:c.5105C>T
NM_001407652.1:c.5087C>T
NM_001407653.1:c.5087C>T
NM_001407654.1:c.5087C>T
NM_001407655.1:c.5087C>T
NM_001407656.1:c.5084C>T
NM_001407657.1:c.5084C>T
NM_001407658.1:c.5084C>T
NM_001407659.1:c.5081C>T
NM_001407660.1:c.5081C>T
NM_001407661.1:c.5081C>T
NM_001407662.1:c.5081C>T
NM_001407663.1:c.5081C>T
NM_001407664.1:c.5042C>T
NM_001407665.1:c.5042C>T
NM_001407666.1:c.5042C>T
NM_001407667.1:c.5042C>T
NM_001407668.1:c.5042C>T
NM_001407669.1:c.5042C>T
NM_001407670.1:c.5039C>T
NM_001407671.1:c.5039C>T
NM_001407672.1:c.5039C>T
NM_001407673.1:c.5039C>T
NM_001407674.1:c.5039C>T
NM_001407675.1:c.5039C>T
NM_001407676.1:c.5039C>T
NM_001407677.1:c.5039C>T
NM_001407678.1:c.5039C>T
NM_001407679.1:c.5039C>T
NM_001407680.1:c.5039C>T
NM_001407681.1:c.5036C>T
NM_001407682.1:c.5036C>T
NM_001407683.1:c.5036C>T
NM_001407684.1:c.5165C>T
NM_001407685.1:c.5036C>T
NM_001407686.1:c.5036C>T
NM_001407687.1:c.5036C>T
NM_001407688.1:c.5036C>T
NM_001407689.1:c.5036C>T
NM_001407690.1:c.5033C>T
NM_001407691.1:c.5033C>T
NM_001407692.1:c.5024C>T
NM_001407694.1:c.5024C>T
NM_001407695.1:c.5024C>T
NM_001407696.1:c.5024C>T
NM_001407697.1:c.5024C>T
NM_001407698.1:c.5024C>T
NM_001407724.1:c.5024C>T
NM_001407725.1:c.5024C>T
NM_001407726.1:c.5024C>T
NM_001407727.1:c.5024C>T
NM_001407728.1:c.5024C>T
NM_001407729.1:c.5024C>T
NM_001407730.1:c.5024C>T
NM_001407731.1:c.5024C>T
NM_001407732.1:c.5021C>T
NM_001407733.1:c.5021C>T
NM_001407734.1:c.5021C>T
NM_001407735.1:c.5021C>T
NM_001407736.1:c.5021C>T
NM_001407737.1:c.5021C>T
NM_001407738.1:c.5021C>T
NM_001407739.1:c.5021C>T
NM_001407740.1:c.5021C>T
NM_001407741.1:c.5021C>T
NM_001407742.1:c.5021C>T
NM_001407743.1:c.5021C>T
NM_001407744.1:c.5021C>T
NM_001407745.1:c.5021C>T
NM_001407746.1:c.5021C>T
NM_001407747.1:c.5021C>T
NM_001407748.1:c.5021C>T
NM_001407749.1:c.5021C>T
NM_001407750.1:c.5021C>T
NM_001407751.1:c.5021C>T
NM_001407752.1:c.5021C>T
NM_001407838.1:c.5018C>T
NM_001407839.1:c.5018C>T
NM_001407841.1:c.5018C>T
NM_001407842.1:c.5018C>T
NM_001407843.1:c.5018C>T
NM_001407844.1:c.5018C>T
NM_001407845.1:c.5018C>T
NM_001407846.1:c.5018C>T
NM_001407847.1:c.5018C>T
NM_001407848.1:c.5018C>T
NM_001407849.1:c.5018C>T
NM_001407850.1:c.5018C>T
NM_001407851.1:c.5018C>T
NM_001407852.1:c.5018C>T
NM_001407853.1:c.5018C>T
NM_001407854.1:c.5165C>T
NM_001407858.1:c.5162C>T
NM_001407859.1:c.5162C>T
NM_001407860.1:c.5162C>T
NM_001407861.1:c.5159C>T
NM_001407862.1:c.4964C>T
NM_001407863.1:c.4961C>T
NM_001407874.1:c.4958C>T
NM_001407875.1:c.4958C>T
NM_001407879.1:c.4955C>T
NM_001407881.1:c.4955C>T
NM_001407882.1:c.4955C>T
NM_001407884.1:c.4955C>T
NM_001407885.1:c.4955C>T
NM_001407886.1:c.4955C>T
NM_001407887.1:c.4955C>T
NM_001407889.1:c.4955C>T
NM_001407894.1:c.4952C>T
NM_001407895.1:c.4952C>T
NM_001407896.1:c.4952C>T
NM_001407897.1:c.4952C>T
NM_001407898.1:c.4952C>T
NM_001407899.1:c.4952C>T
NM_001407900.1:c.4952C>T
NM_001407902.1:c.4952C>T
NM_001407904.1:c.4952C>T
NM_001407906.1:c.4952C>T
NM_001407907.1:c.4952C>T
NM_001407908.1:c.4952C>T
NM_001407909.1:c.4952C>T
NM_001407910.1:c.4952C>T
NM_001407915.1:c.4949C>T
NM_001407916.1:c.4949C>T
NM_001407917.1:c.4949C>T
NM_001407918.1:c.4949C>T
NM_001407919.1:c.5042C>T
NM_001407920.1:c.4901C>T
NM_001407921.1:c.4901C>T
NM_001407922.1:c.4901C>T
NM_001407923.1:c.4901C>T
NM_001407924.1:c.4901C>T
NM_001407925.1:c.4901C>T
NM_001407926.1:c.4901C>T
NM_001407927.1:c.4898C>T
NM_001407928.1:c.4898C>T
NM_001407929.1:c.4898C>T
NM_001407930.1:c.4898C>T
NM_001407931.1:c.4898C>T
NM_001407932.1:c.4898C>T
NM_001407933.1:c.4898C>T
NM_001407934.1:c.4895C>T
NM_001407935.1:c.4895C>T
NM_001407936.1:c.4895C>T
NM_001407937.1:c.5042C>T
NM_001407938.1:c.5042C>T
NM_001407939.1:c.5039C>T
NM_001407940.1:c.5039C>T
NM_001407941.1:c.5036C>T
NM_001407942.1:c.5024C>T
NM_001407943.1:c.5021C>T
NM_001407944.1:c.5021C>T
NM_001407945.1:c.5021C>T
NM_001407946.1:c.4832C>T
NM_001407947.1:c.4832C>T
NM_001407948.1:c.4832C>T
NM_001407949.1:c.4832C>T
NM_001407950.1:c.4829C>T
NM_001407951.1:c.4829C>T
NM_001407952.1:c.4829C>T
NM_001407953.1:c.4829C>T
NM_001407954.1:c.4829C>T
NM_001407955.1:c.4829C>T
NM_001407956.1:c.4826C>T
NM_001407957.1:c.4826C>T
NM_001407958.1:c.4826C>T
NM_001407959.1:c.4784C>T
NM_001407960.1:c.4781C>T
NM_001407962.1:c.4781C>T
NM_001407963.1:c.4778C>T
NM_001407964.1:c.4703C>T
NM_001407965.1:c.4658C>T
NM_001407966.1:c.4277C>T
NM_001407967.1:c.4274C>T
NM_001407968.1:c.2561C>T
NM_001407969.1:c.2558C>T
NM_001407970.1:c.1922C>T
NM_001407971.1:c.1922C>T
NM_001407972.1:c.1919C>T
NM_001407973.1:c.1856C>T
NM_001407974.1:c.1856C>T
NM_001407975.1:c.1856C>T
NM_001407976.1:c.1856C>T
NM_001407977.1:c.1856C>T
NM_001407978.1:c.1856C>T
NM_001407979.1:c.1853C>T
NM_001407980.1:c.1853C>T
NM_001407981.1:c.1853C>T
NM_001407982.1:c.1853C>T
NM_001407983.1:c.1853C>T
NM_001407984.1:c.1853C>T
NM_001407985.1:c.1853C>T
NM_001407986.1:c.1853C>T
NM_001407990.1:c.1853C>T
NM_001407991.1:c.1853C>T
NM_001407992.1:c.1853C>T
NM_001407993.1:c.1853C>T
NM_001408392.1:c.1850C>T
NM_001408396.1:c.1850C>T
NM_001408397.1:c.1850C>T
NM_001408398.1:c.1850C>T
NM_001408399.1:c.1850C>T
NM_001408400.1:c.1850C>T
NM_001408401.1:c.1850C>T
NM_001408402.1:c.1850C>T
NM_001408403.1:c.1850C>T
NM_001408404.1:c.1850C>T
NM_001408406.1:c.1847C>T
NM_001408407.1:c.1847C>T
NM_001408408.1:c.1847C>T
NM_001408409.1:c.1844C>T
NM_001408410.1:c.1781C>T
NM_001408411.1:c.1778C>T
NM_001408412.1:c.1775C>T
NM_001408413.1:c.1775C>T
NM_001408414.1:c.1775C>T
NM_001408415.1:c.1775C>T
NM_001408416.1:c.1775C>T
NM_001408418.1:c.1739C>T
NM_001408419.1:c.1739C>T
NM_001408420.1:c.1739C>T
NM_001408421.1:c.1736C>T
NM_001408422.1:c.1736C>T
NM_001408423.1:c.1736C>T
NM_001408424.1:c.1736C>T
NM_001408425.1:c.1733C>T
NM_001408426.1:c.1733C>T
NM_001408427.1:c.1733C>T
NM_001408428.1:c.1733C>T
NM_001408429.1:c.1733C>T
NM_001408430.1:c.1733C>T
NM_001408431.1:c.1733C>T
NM_001408432.1:c.1730C>T
NM_001408433.1:c.1730C>T
NM_001408434.1:c.1730C>T
NM_001408435.1:c.1730C>T
NM_001408436.1:c.1730C>T
NM_001408437.1:c.1730C>T
NM_001408438.1:c.1730C>T
NM_001408439.1:c.1730C>T
NM_001408440.1:c.1730C>T
NM_001408441.1:c.1730C>T
NM_001408442.1:c.1730C>T
NM_001408443.1:c.1730C>T
NM_001408444.1:c.1730C>T
NM_001408445.1:c.1727C>T
NM_001408446.1:c.1727C>T
NM_001408447.1:c.1727C>T
NM_001408448.1:c.1727C>T
NM_001408450.1:c.1727C>T
NM_001408451.1:c.1721C>T
NM_001408452.1:c.1715C>T
NM_001408453.1:c.1715C>T
NM_001408454.1:c.1715C>T
NM_001408455.1:c.1715C>T
NM_001408456.1:c.1715C>T
NM_001408457.1:c.1715C>T
NM_001408458.1:c.1712C>T
NM_001408459.1:c.1712C>T
NM_001408460.1:c.1712C>T
NM_001408461.1:c.1712C>T
NM_001408462.1:c.1712C>T
NM_001408463.1:c.1712C>T
NM_001408464.1:c.1712C>T
NM_001408465.1:c.1712C>T
NM_001408466.1:c.1712C>T
NM_001408467.1:c.1712C>T
NM_001408468.1:c.1709C>T
NM_001408469.1:c.1709C>T
NM_001408470.1:c.1709C>T
NM_001408472.1:c.1853C>T
NM_001408473.1:c.1850C>T
NM_001408474.1:c.1655C>T
NM_001408475.1:c.1652C>T
NM_001408476.1:c.1652C>T
NM_001408478.1:c.1646C>T
NM_001408479.1:c.1646C>T
NM_001408480.1:c.1646C>T
NM_001408481.1:c.1643C>T
NM_001408482.1:c.1643C>T
NM_001408483.1:c.1643C>T
NM_001408484.1:c.1643C>T
NM_001408485.1:c.1643C>T
NM_001408489.1:c.1643C>T
NM_001408490.1:c.1643C>T
NM_001408491.1:c.1643C>T
NM_001408492.1:c.1640C>T
NM_001408493.1:c.1640C>T
NM_001408494.1:c.1616C>T
NM_001408495.1:c.1610C>T
NM_001408496.1:c.1592C>T
NM_001408497.1:c.1592C>T
NM_001408498.1:c.1592C>T
NM_001408499.1:c.1592C>T
NM_001408500.1:c.1592C>T
NM_001408501.1:c.1592C>T
NM_001408502.1:c.1589C>T
NM_001408503.1:c.1589C>T
NM_001408504.1:c.1589C>T
NM_001408505.1:c.1586C>T
NM_001408506.1:c.1529C>T
NM_001408507.1:c.1526C>T
NM_001408508.1:c.1517C>T
NM_001408509.1:c.1514C>T
NM_001408510.1:c.1475C>T
NM_001408511.1:c.1472C>T
NM_001408512.1:c.1352C>T
NM_001408513.1:c.1325C>T
NM_001408514.1:c.929C>T
NM_007294.4:c.5165C>TMANE SELECT
NM_007297.4:c.5024C>T
NM_007298.4:c.1853C>T
NM_007299.4:c.1853C>T
NM_007300.4:c.5228C>T
NM_007304.2:c.1853C>T
NP_001394500.1:p.Ser1651Phe
NP_001394510.1:p.Ser1744Phe
NP_001394511.1:p.Ser1744Phe
NP_001394512.1:p.Ser1743Phe
NP_001394514.1:p.Ser1743Phe
NP_001394516.1:p.Ser1743Phe
NP_001394519.1:p.Ser1742Phe
NP_001394520.1:p.Ser1742Phe
NP_001394522.1:p.Ser1722Phe
NP_001394523.1:p.Ser1722Phe
NP_001394525.1:p.Ser1722Phe
NP_001394526.1:p.Ser1722Phe
NP_001394527.1:p.Ser1722Phe
NP_001394531.1:p.Ser1722Phe
NP_001394532.1:p.Ser1722Phe
NP_001394534.1:p.Ser1722Phe
NP_001394539.1:p.Ser1721Phe
NP_001394540.1:p.Ser1721Phe
NP_001394541.1:p.Ser1721Phe
NP_001394542.1:p.Ser1721Phe
NP_001394543.1:p.Ser1721Phe
NP_001394544.1:p.Ser1721Phe
NP_001394545.1:p.Ser1721Phe
NP_001394546.1:p.Ser1721Phe
NP_001394547.1:p.Ser1721Phe
NP_001394548.1:p.Ser1721Phe
NP_001394549.1:p.Ser1721Phe
NP_001394550.1:p.Ser1721Phe
NP_001394551.1:p.Ser1721Phe
NP_001394552.1:p.Ser1721Phe
NP_001394553.1:p.Ser1721Phe
NP_001394554.1:p.Ser1721Phe
NP_001394555.1:p.Ser1721Phe
NP_001394556.1:p.Ser1720Phe
NP_001394557.1:p.Ser1720Phe
NP_001394558.1:p.Ser1720Phe
NP_001394559.1:p.Ser1720Phe
NP_001394560.1:p.Ser1720Phe
NP_001394561.1:p.Ser1720Phe
NP_001394562.1:p.Ser1720Phe
NP_001394563.1:p.Ser1720Phe
NP_001394564.1:p.Ser1720Phe
NP_001394565.1:p.Ser1720Phe
NP_001394566.1:p.Ser1720Phe
NP_001394567.1:p.Ser1720Phe
NP_001394568.1:p.Ser1720Phe
NP_001394569.1:p.Ser1720Phe
NP_001394570.1:p.Ser1720Phe
NP_001394571.1:p.Ser1720Phe
NP_001394573.1:p.Ser1719Phe
NP_001394574.1:p.Ser1719Phe
NP_001394575.1:p.Ser1718Phe
NP_001394576.1:p.Ser1717Phe
NP_001394577.1:p.Ser1703Phe
NP_001394578.1:p.Ser1702Phe
NP_001394581.1:p.Ser1696Phe
NP_001394582.1:p.Ser1696Phe
NP_001394583.1:p.Ser1696Phe
NP_001394584.1:p.Ser1696Phe
NP_001394585.1:p.Ser1695Phe
NP_001394586.1:p.Ser1695Phe
NP_001394587.1:p.Ser1695Phe
NP_001394588.1:p.Ser1694Phe
NP_001394589.1:p.Ser1694Phe
NP_001394590.1:p.Ser1694Phe
NP_001394591.1:p.Ser1694Phe
NP_001394592.1:p.Ser1694Phe
NP_001394593.1:p.Ser1681Phe
NP_001394594.1:p.Ser1681Phe
NP_001394595.1:p.Ser1681Phe
NP_001394596.1:p.Ser1681Phe
NP_001394597.1:p.Ser1681Phe
NP_001394598.1:p.Ser1681Phe
NP_001394599.1:p.Ser1680Phe
NP_001394600.1:p.Ser1680Phe
NP_001394601.1:p.Ser1680Phe
NP_001394602.1:p.Ser1680Phe
NP_001394603.1:p.Ser1680Phe
NP_001394604.1:p.Ser1680Phe
NP_001394605.1:p.Ser1680Phe
NP_001394606.1:p.Ser1680Phe
NP_001394607.1:p.Ser1680Phe
NP_001394608.1:p.Ser1680Phe
NP_001394609.1:p.Ser1680Phe
NP_001394610.1:p.Ser1679Phe
NP_001394611.1:p.Ser1679Phe
NP_001394612.1:p.Ser1679Phe
NP_001394613.1:p.Ser1722Phe
NP_001394614.1:p.Ser1679Phe
NP_001394615.1:p.Ser1679Phe
NP_001394616.1:p.Ser1679Phe
NP_001394617.1:p.Ser1679Phe
NP_001394618.1:p.Ser1679Phe
NP_001394619.1:p.Ser1678Phe
NP_001394620.1:p.Ser1678Phe
NP_001394621.1:p.Ser1675Phe
NP_001394623.1:p.Ser1675Phe
NP_001394624.1:p.Ser1675Phe
NP_001394625.1:p.Ser1675Phe
NP_001394626.1:p.Ser1675Phe
NP_001394627.1:p.Ser1675Phe
NP_001394653.1:p.Ser1675Phe
NP_001394654.1:p.Ser1675Phe
NP_001394655.1:p.Ser1675Phe
NP_001394656.1:p.Ser1675Phe
NP_001394657.1:p.Ser1675Phe
NP_001394658.1:p.Ser1675Phe
NP_001394659.1:p.Ser1675Phe
NP_001394660.1:p.Ser1675Phe
NP_001394661.1:p.Ser1674Phe
NP_001394662.1:p.Ser1674Phe
NP_001394663.1:p.Ser1674Phe
NP_001394664.1:p.Ser1674Phe
NP_001394665.1:p.Ser1674Phe
NP_001394666.1:p.Ser1674Phe
NP_001394667.1:p.Ser1674Phe
NP_001394668.1:p.Ser1674Phe
NP_001394669.1:p.Ser1674Phe
NP_001394670.1:p.Ser1674Phe
NP_001394671.1:p.Ser1674Phe
NP_001394672.1:p.Ser1674Phe
NP_001394673.1:p.Ser1674Phe
NP_001394674.1:p.Ser1674Phe
NP_001394675.1:p.Ser1674Phe
NP_001394676.1:p.Ser1674Phe
NP_001394677.1:p.Ser1674Phe
NP_001394678.1:p.Ser1674Phe
NP_001394679.1:p.Ser1674Phe
NP_001394680.1:p.Ser1674Phe
NP_001394681.1:p.Ser1674Phe
NP_001394767.1:p.Ser1673Phe
NP_001394768.1:p.Ser1673Phe
NP_001394770.1:p.Ser1673Phe
NP_001394771.1:p.Ser1673Phe
NP_001394772.1:p.Ser1673Phe
NP_001394773.1:p.Ser1673Phe
NP_001394774.1:p.Ser1673Phe
NP_001394775.1:p.Ser1673Phe
NP_001394776.1:p.Ser1673Phe
NP_001394777.1:p.Ser1673Phe
NP_001394778.1:p.Ser1673Phe
NP_001394779.1:p.Ser1673Phe
NP_001394780.1:p.Ser1673Phe
NP_001394781.1:p.Ser1673Phe
NP_001394782.1:p.Ser1673Phe
NP_001394783.1:p.Ser1722Phe
NP_001394787.1:p.Ser1721Phe
NP_001394788.1:p.Ser1721Phe
NP_001394789.1:p.Ser1721Phe
NP_001394790.1:p.Ser1720Phe
NP_001394791.1:p.Ser1655Phe
NP_001394792.1:p.Ser1654Phe
NP_001394803.1:p.Ser1653Phe
NP_001394804.1:p.Ser1653Phe
NP_001394808.1:p.Ser1652Phe
NP_001394810.1:p.Ser1652Phe
NP_001394811.1:p.Ser1652Phe
NP_001394813.1:p.Ser1652Phe
NP_001394814.1:p.Ser1652Phe
NP_001394815.1:p.Ser1652Phe
NP_001394816.1:p.Ser1652Phe
NP_001394818.1:p.Ser1652Phe
NP_001394823.1:p.Ser1651Phe
NP_001394824.1:p.Ser1651Phe
NP_001394825.1:p.Ser1651Phe
NP_001394826.1:p.Ser1651Phe
NP_001394827.1:p.Ser1651Phe
NP_001394828.1:p.Ser1651Phe
NP_001394829.1:p.Ser1651Phe
NP_001394831.1:p.Ser1651Phe
NP_001394833.1:p.Ser1651Phe
NP_001394835.1:p.Ser1651Phe
NP_001394836.1:p.Ser1651Phe
NP_001394837.1:p.Ser1651Phe
NP_001394838.1:p.Ser1651Phe
NP_001394839.1:p.Ser1651Phe
NP_001394844.1:p.Ser1650Phe
NP_001394845.1:p.Ser1650Phe
NP_001394846.1:p.Ser1650Phe
NP_001394847.1:p.Ser1650Phe
NP_001394848.1:p.Ser1681Phe
NP_001394849.1:p.Ser1634Phe
NP_001394850.1:p.Ser1634Phe
NP_001394851.1:p.Ser1634Phe
NP_001394852.1:p.Ser1634Phe
NP_001394853.1:p.Ser1634Phe
NP_001394854.1:p.Ser1634Phe
NP_001394855.1:p.Ser1634Phe
NP_001394856.1:p.Ser1633Phe
NP_001394857.1:p.Ser1633Phe
NP_001394858.1:p.Ser1633Phe
NP_001394859.1:p.Ser1633Phe
NP_001394860.1:p.Ser1633Phe
NP_001394861.1:p.Ser1633Phe
NP_001394862.1:p.Ser1633Phe
NP_001394863.1:p.Ser1632Phe
NP_001394864.1:p.Ser1632Phe
NP_001394865.1:p.Ser1632Phe
NP_001394866.1:p.Ser1681Phe
NP_001394867.1:p.Ser1681Phe
NP_001394868.1:p.Ser1680Phe
NP_001394869.1:p.Ser1680Phe
NP_001394870.1:p.Ser1679Phe
NP_001394871.1:p.Ser1675Phe
NP_001394872.1:p.Ser1674Phe
NP_001394873.1:p.Ser1674Phe
NP_001394874.1:p.Ser1674Phe
NP_001394875.1:p.Ser1611Phe
NP_001394876.1:p.Ser1611Phe
NP_001394877.1:p.Ser1611Phe
NP_001394878.1:p.Ser1611Phe
NP_001394879.1:p.Ser1610Phe
NP_001394880.1:p.Ser1610Phe
NP_001394881.1:p.Ser1610Phe
NP_001394882.1:p.Ser1610Phe
NP_001394883.1:p.Ser1610Phe
NP_001394884.1:p.Ser1610Phe
NP_001394885.1:p.Ser1609Phe
NP_001394886.1:p.Ser1609Phe
NP_001394887.1:p.Ser1609Phe
NP_001394888.1:p.Ser1595Phe
NP_001394889.1:p.Ser1594Phe
NP_001394891.1:p.Ser1594Phe
NP_001394892.1:p.Ser1593Phe
NP_001394893.1:p.Ser1568Phe
NP_001394894.1:p.Ser1553Phe
NP_001394895.1:p.Ser1426Phe
NP_001394896.1:p.Ser1425Phe
NP_001394897.1:p.Ser854Phe
NP_001394898.1:p.Ser853Phe
NP_001394899.1:p.Ser641Phe
NP_001394900.1:p.Ser641Phe
NP_001394901.1:p.Ser640Phe
NP_001394902.1:p.Ser619Phe
NP_001394903.1:p.Ser619Phe
NP_001394904.1:p.Ser619Phe
NP_001394905.1:p.Ser619Phe
NP_001394906.1:p.Ser619Phe
NP_001394907.1:p.Ser619Phe
NP_001394908.1:p.Ser618Phe
NP_001394909.1:p.Ser618Phe
NP_001394910.1:p.Ser618Phe
NP_001394911.1:p.Ser618Phe
NP_001394912.1:p.Ser618Phe
NP_001394913.1:p.Ser618Phe
NP_001394914.1:p.Ser618Phe
NP_001394915.1:p.Ser618Phe
NP_001394919.1:p.Ser618Phe
NP_001394920.1:p.Ser618Phe
NP_001394921.1:p.Ser618Phe
NP_001394922.1:p.Ser618Phe
NP_001395321.1:p.Ser617Phe
NP_001395325.1:p.Ser617Phe
NP_001395326.1:p.Ser617Phe
NP_001395327.1:p.Ser617Phe
NP_001395328.1:p.Ser617Phe
NP_001395329.1:p.Ser617Phe
NP_001395330.1:p.Ser617Phe
NP_001395331.1:p.Ser617Phe
NP_001395332.1:p.Ser617Phe
NP_001395333.1:p.Ser617Phe
NP_001395335.1:p.Ser616Phe
NP_001395336.1:p.Ser616Phe
NP_001395337.1:p.Ser616Phe
NP_001395338.1:p.Ser615Phe
NP_001395339.1:p.Ser594Phe
NP_001395340.1:p.Ser593Phe
NP_001395341.1:p.Ser592Phe
NP_001395342.1:p.Ser592Phe
NP_001395343.1:p.Ser592Phe
NP_001395344.1:p.Ser592Phe
NP_001395345.1:p.Ser592Phe
NP_001395347.1:p.Ser580Phe
NP_001395348.1:p.Ser580Phe
NP_001395349.1:p.Ser580Phe
NP_001395350.1:p.Ser579Phe
NP_001395351.1:p.Ser579Phe
NP_001395352.1:p.Ser579Phe
NP_001395353.1:p.Ser579Phe
NP_001395354.1:p.Ser578Phe
NP_001395355.1:p.Ser578Phe
NP_001395356.1:p.Ser578Phe
NP_001395357.1:p.Ser578Phe
NP_001395358.1:p.Ser578Phe
NP_001395359.1:p.Ser578Phe
NP_001395360.1:p.Ser578Phe
NP_001395361.1:p.Ser577Phe
NP_001395362.1:p.Ser577Phe
NP_001395363.1:p.Ser577Phe
NP_001395364.1:p.Ser577Phe
NP_001395365.1:p.Ser577Phe
NP_001395366.1:p.Ser577Phe
NP_001395367.1:p.Ser577Phe
NP_001395368.1:p.Ser577Phe
NP_001395369.1:p.Ser577Phe
NP_001395370.1:p.Ser577Phe
NP_001395371.1:p.Ser577Phe
NP_001395372.1:p.Ser577Phe
NP_001395373.1:p.Ser577Phe
NP_001395374.1:p.Ser576Phe
NP_001395375.1:p.Ser576Phe
NP_001395376.1:p.Ser576Phe
NP_001395377.1:p.Ser576Phe
NP_001395379.1:p.Ser576Phe
NP_001395380.1:p.Ser574Phe
NP_001395381.1:p.Ser572Phe
NP_001395382.1:p.Ser572Phe
NP_001395383.1:p.Ser572Phe
NP_001395384.1:p.Ser572Phe
NP_001395385.1:p.Ser572Phe
NP_001395386.1:p.Ser572Phe
NP_001395387.1:p.Ser571Phe
NP_001395388.1:p.Ser571Phe
NP_001395389.1:p.Ser571Phe
NP_001395390.1:p.Ser571Phe
NP_001395391.1:p.Ser571Phe
NP_001395392.1:p.Ser571Phe
NP_001395393.1:p.Ser571Phe
NP_001395394.1:p.Ser571Phe
NP_001395395.1:p.Ser571Phe
NP_001395396.1:p.Ser571Phe
NP_001395397.1:p.Ser570Phe
NP_001395398.1:p.Ser570Phe
NP_001395399.1:p.Ser570Phe
NP_001395401.1:p.Ser618Phe
NP_001395402.1:p.Ser617Phe
NP_001395403.1:p.Ser552Phe
NP_001395404.1:p.Ser551Phe
NP_001395405.1:p.Ser551Phe
NP_001395407.1:p.Ser549Phe
NP_001395408.1:p.Ser549Phe
NP_001395409.1:p.Ser549Phe
NP_001395410.1:p.Ser548Phe
NP_001395411.1:p.Ser548Phe
NP_001395412.1:p.Ser548Phe
NP_001395413.1:p.Ser548Phe
NP_001395414.1:p.Ser548Phe
NP_001395418.1:p.Ser548Phe
NP_001395419.1:p.Ser548Phe
NP_001395420.1:p.Ser548Phe
NP_001395421.1:p.Ser547Phe
NP_001395422.1:p.Ser547Phe
NP_001395423.1:p.Ser539Phe
NP_001395424.1:p.Ser537Phe
NP_001395425.1:p.Ser531Phe
NP_001395426.1:p.Ser531Phe
NP_001395427.1:p.Ser531Phe
NP_001395428.1:p.Ser531Phe
NP_001395429.1:p.Ser531Phe
NP_001395430.1:p.Ser531Phe
NP_001395431.1:p.Ser530Phe
NP_001395432.1:p.Ser530Phe
NP_001395433.1:p.Ser530Phe
NP_001395434.1:p.Ser529Phe
NP_001395435.1:p.Ser510Phe
NP_001395436.1:p.Ser509Phe
NP_001395437.1:p.Ser506Phe
NP_001395438.1:p.Ser505Phe
NP_001395439.1:p.Ser492Phe
NP_001395440.1:p.Ser491Phe
NP_001395441.1:p.Ser451Phe
NP_001395442.1:p.Ser442Phe
NP_001395443.1:p.Ser310Phe
NP_009225.1:p.Ser1722Phe
NP_009225.1:p.Ser1722Phe
NP_009228.2:p.Ser1675Phe
NP_009229.2:p.Ser618Phe
NP_009229.2:p.Ser618Phe
NP_009230.2:p.Ser618Phe
NP_009231.2:p.Ser1743Phe
NP_009235.2:p.Ser618Phe
LRG_292t1:c.5165C>T
LRG_292:g.154623C>T
LRG_292p1:p.Ser1722Phe
NC_000017.10:g.41215378G>A
NM_007294.3:c.5165C>T
NM_007298.3:c.1853C>T
NR_027676.2:n.5342C>T
U14680.1:n.5284C>T

Nucleotide change:

5284C>T

Protein change:

S1425F

Links:

dbSNP: rs80357104

NCBI 1000 Genomes Browser:

rs80357104

Molecular consequence:

NM_001407571.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.5231C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.5231C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.5228C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.5228C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.5228C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.5225C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.5225C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.5165C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.5165C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.5165C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.5165C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.5165C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.5165C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.5165C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.5165C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.5156C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.5156C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.5153C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.5150C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.5108C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.5105C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.5087C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.5087C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.5087C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.5087C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.5084C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.5084C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.5084C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.5081C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.5081C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.5081C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.5081C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.5081C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.5042C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.5042C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.5042C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.5042C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.5042C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.5042C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.5039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.5039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.5039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.5039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.5039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.5039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.5039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.5039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.5039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.5039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.5039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.5036C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.5036C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.5036C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.5165C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.5036C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.5036C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.5036C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.5036C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.5036C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.5033C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.5033C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.5018C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.5165C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.5159C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.4964C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.4961C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.4958C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.4958C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.4955C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.4955C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.4955C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.4955C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.4955C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.4955C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.4955C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.4955C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.4952C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.4949C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.4949C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.4949C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.4949C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.5042C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.4901C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.4901C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.4901C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.4901C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.4901C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.4901C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.4901C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.4898C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.4898C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.4898C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.4898C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.4898C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.4898C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.4898C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.4895C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.4895C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.4895C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.5042C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.5042C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.5039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.5039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.5036C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.5021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.4832C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.4832C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.4832C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.4832C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.4829C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.4829C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.4829C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.4829C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.4829C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.4829C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.4826C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.4826C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.4826C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.4784C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.4781C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.4781C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.4778C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.4703C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.4658C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.4277C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.4274C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.2561C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.2558C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.1922C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.1922C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.1919C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.1856C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.1856C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.1856C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.1856C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.1856C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.1856C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.1847C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.1847C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.1847C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.1844C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.1781C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.1778C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.1775C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.1775C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.1775C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.1775C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.1775C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.1739C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.1739C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.1739C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.1736C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.1736C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.1736C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.1736C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.1733C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.1733C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.1733C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.1733C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.1733C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.1733C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.1733C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.1730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.1730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.1730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.1730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.1730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.1730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.1730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.1730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.1730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.1730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.1730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.1730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.1730C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.1727C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.1727C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.1727C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.1727C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.1727C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.1721C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.1715C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.1715C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.1715C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.1715C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.1715C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.1715C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.1712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.1712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.1712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.1712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.1712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.1712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.1712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.1712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.1712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.1712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.1709C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.1709C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.1709C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.1850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.1655C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.1652C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.1652C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408478.1:c.1646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408479.1:c.1646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408480.1:c.1646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408481.1:c.1643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408482.1:c.1643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408483.1:c.1643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408484.1:c.1643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408485.1:c.1643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408489.1:c.1643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408490.1:c.1643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408491.1:c.1643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408492.1:c.1640C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408493.1:c.1640C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.1616C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.1610C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.1592C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.1592C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.1592C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.1592C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.1592C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.1592C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408502.1:c.1589C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.1589C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.1589C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.1586C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408506.1:c.1529C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408507.1:c.1526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408508.1:c.1517C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408509.1:c.1514C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408510.1:c.1475C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408511.1:c.1472C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408512.1:c.1352C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408513.1:c.1325C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408514.1:c.929C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.5165C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.5024C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.5228C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.5342C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109409	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Aug 17, 2012)	germline	clinical testing
SCV000145368	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (Feb 20, 2004)	germline	clinical testing
SCV000326192	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,
SCV000677659	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely pathogenic (Apr 19, 2017)	unknown	clinical testing	PubMed (6) [See all records that cite these PMIDs] 17305420, 15172985, 22476429, 20516115, 12496477, 25085752 Citation Link,
SCV000839899	Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 25, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001140481	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001237797	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,
SCV004215091	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 21, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004817580	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 10, 2023)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 12496477, 15172985, 20516115, 22476429, 25085752, 30765603, 33526602, 25741868

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	2	not provided	not provided	2	not provided	clinical testing
not provided	germline	unknown	1	2	not provided	108544	not provided	clinical testing
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
Latin American, Caribbean	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Functional impact of missense variants in BRCA1 predicted by supervised learning.

Karchin R, Monteiro AN, Tavtigian SV, Carvalho MA, Sali A.

PLoS Comput Biol. 2007 Feb 16;3(2):e26. Epub 2006 Dec 28.

PubMed [citation]

PMID:: 17305420
PMCID:: PMC1797820

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]

PMID:: 30209399
PMCID:: PMC6181777

See all PubMed Citations (10)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109409.2

#	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	not provided	2	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145368.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Latin American, Caribbean	2	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		2	not provided	not provided	not provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326192.4

#	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	2	not provided

From Counsyl, SCV000677659.2

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

#	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 Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV000839899.1

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

Description

The c.5165C>T (p.Ser1722Phe) variant in the BRCA1 gene has been reported in two patients in the Breast Cancer Information Core database (accession number 10462 and 10461). The variant has also been reported in additional patients by clinical laboratories in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/55441). Functional assays showed a strong deleterious effect [PMID 20516115]. This variant was not observed in the ExAC database. Serine at amino acid position 1722 of the BRCA1 protein is conserved in mammals. Although not validated for clinical use, computer-based algorithms SIFT and Polyphen2 predict this p.Ser1722Phe change to be deleterious. This variant thus classified as likely 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 Mendelics, SCV001140481.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Brotman Baty Institute, University of Washington, SCV001237797.1

#	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 Baylor Genetics, SCV004215091.1

#	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 All of Us Research Program, National Institutes of Health, SCV004817580.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (8)

Description

This missense variant replaces serine with phenylalanine at codon 1722 in the BRCT1 domain of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Multiple functional studies have consistently shown that this variant results in the loss of transcription activation function of BRCA1 protein (PMID: 12496477, 15172985, 20516115, 30765603). This variant has been reported in at least six individuals affected with hereditary breast and/or ovarian cancer (PMID: 22476429, 33526602; Color internal data). An external laboratory has concluded this variant to be Pathogenic based on analysis of personal and family history of 44 probands (PMID: 25085752). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). 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	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 2, 2024

Relating variation to medicine