NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jan 5, 2024
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:: RCV000637560.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr)]

NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr)

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>A (p.Ser1722Tyr)

HGVS:

NC_000017.11:g.43063361G>T
NG_005905.2:g.154623C>A
NM_001407571.1:c.4952C>A
NM_001407581.1:c.5231C>A
NM_001407582.1:c.5231C>A
NM_001407583.1:c.5228C>A
NM_001407585.1:c.5228C>A
NM_001407587.1:c.5228C>A
NM_001407590.1:c.5225C>A
NM_001407591.1:c.5225C>A
NM_001407593.1:c.5165C>A
NM_001407594.1:c.5165C>A
NM_001407596.1:c.5165C>A
NM_001407597.1:c.5165C>A
NM_001407598.1:c.5165C>A
NM_001407602.1:c.5165C>A
NM_001407603.1:c.5165C>A
NM_001407605.1:c.5165C>A
NM_001407610.1:c.5162C>A
NM_001407611.1:c.5162C>A
NM_001407612.1:c.5162C>A
NM_001407613.1:c.5162C>A
NM_001407614.1:c.5162C>A
NM_001407615.1:c.5162C>A
NM_001407616.1:c.5162C>A
NM_001407617.1:c.5162C>A
NM_001407618.1:c.5162C>A
NM_001407619.1:c.5162C>A
NM_001407620.1:c.5162C>A
NM_001407621.1:c.5162C>A
NM_001407622.1:c.5162C>A
NM_001407623.1:c.5162C>A
NM_001407624.1:c.5162C>A
NM_001407625.1:c.5162C>A
NM_001407626.1:c.5162C>A
NM_001407627.1:c.5159C>A
NM_001407628.1:c.5159C>A
NM_001407629.1:c.5159C>A
NM_001407630.1:c.5159C>A
NM_001407631.1:c.5159C>A
NM_001407632.1:c.5159C>A
NM_001407633.1:c.5159C>A
NM_001407634.1:c.5159C>A
NM_001407635.1:c.5159C>A
NM_001407636.1:c.5159C>A
NM_001407637.1:c.5159C>A
NM_001407638.1:c.5159C>A
NM_001407639.1:c.5159C>A
NM_001407640.1:c.5159C>A
NM_001407641.1:c.5159C>A
NM_001407642.1:c.5159C>A
NM_001407644.1:c.5156C>A
NM_001407645.1:c.5156C>A
NM_001407646.1:c.5153C>A
NM_001407647.1:c.5150C>A
NM_001407648.1:c.5108C>A
NM_001407649.1:c.5105C>A
NM_001407652.1:c.5087C>A
NM_001407653.1:c.5087C>A
NM_001407654.1:c.5087C>A
NM_001407655.1:c.5087C>A
NM_001407656.1:c.5084C>A
NM_001407657.1:c.5084C>A
NM_001407658.1:c.5084C>A
NM_001407659.1:c.5081C>A
NM_001407660.1:c.5081C>A
NM_001407661.1:c.5081C>A
NM_001407662.1:c.5081C>A
NM_001407663.1:c.5081C>A
NM_001407664.1:c.5042C>A
NM_001407665.1:c.5042C>A
NM_001407666.1:c.5042C>A
NM_001407667.1:c.5042C>A
NM_001407668.1:c.5042C>A
NM_001407669.1:c.5042C>A
NM_001407670.1:c.5039C>A
NM_001407671.1:c.5039C>A
NM_001407672.1:c.5039C>A
NM_001407673.1:c.5039C>A
NM_001407674.1:c.5039C>A
NM_001407675.1:c.5039C>A
NM_001407676.1:c.5039C>A
NM_001407677.1:c.5039C>A
NM_001407678.1:c.5039C>A
NM_001407679.1:c.5039C>A
NM_001407680.1:c.5039C>A
NM_001407681.1:c.5036C>A
NM_001407682.1:c.5036C>A
NM_001407683.1:c.5036C>A
NM_001407684.1:c.5165C>A
NM_001407685.1:c.5036C>A
NM_001407686.1:c.5036C>A
NM_001407687.1:c.5036C>A
NM_001407688.1:c.5036C>A
NM_001407689.1:c.5036C>A
NM_001407690.1:c.5033C>A
NM_001407691.1:c.5033C>A
NM_001407692.1:c.5024C>A
NM_001407694.1:c.5024C>A
NM_001407695.1:c.5024C>A
NM_001407696.1:c.5024C>A
NM_001407697.1:c.5024C>A
NM_001407698.1:c.5024C>A
NM_001407724.1:c.5024C>A
NM_001407725.1:c.5024C>A
NM_001407726.1:c.5024C>A
NM_001407727.1:c.5024C>A
NM_001407728.1:c.5024C>A
NM_001407729.1:c.5024C>A
NM_001407730.1:c.5024C>A
NM_001407731.1:c.5024C>A
NM_001407732.1:c.5021C>A
NM_001407733.1:c.5021C>A
NM_001407734.1:c.5021C>A
NM_001407735.1:c.5021C>A
NM_001407736.1:c.5021C>A
NM_001407737.1:c.5021C>A
NM_001407738.1:c.5021C>A
NM_001407739.1:c.5021C>A
NM_001407740.1:c.5021C>A
NM_001407741.1:c.5021C>A
NM_001407742.1:c.5021C>A
NM_001407743.1:c.5021C>A
NM_001407744.1:c.5021C>A
NM_001407745.1:c.5021C>A
NM_001407746.1:c.5021C>A
NM_001407747.1:c.5021C>A
NM_001407748.1:c.5021C>A
NM_001407749.1:c.5021C>A
NM_001407750.1:c.5021C>A
NM_001407751.1:c.5021C>A
NM_001407752.1:c.5021C>A
NM_001407838.1:c.5018C>A
NM_001407839.1:c.5018C>A
NM_001407841.1:c.5018C>A
NM_001407842.1:c.5018C>A
NM_001407843.1:c.5018C>A
NM_001407844.1:c.5018C>A
NM_001407845.1:c.5018C>A
NM_001407846.1:c.5018C>A
NM_001407847.1:c.5018C>A
NM_001407848.1:c.5018C>A
NM_001407849.1:c.5018C>A
NM_001407850.1:c.5018C>A
NM_001407851.1:c.5018C>A
NM_001407852.1:c.5018C>A
NM_001407853.1:c.5018C>A
NM_001407854.1:c.5165C>A
NM_001407858.1:c.5162C>A
NM_001407859.1:c.5162C>A
NM_001407860.1:c.5162C>A
NM_001407861.1:c.5159C>A
NM_001407862.1:c.4964C>A
NM_001407863.1:c.4961C>A
NM_001407874.1:c.4958C>A
NM_001407875.1:c.4958C>A
NM_001407879.1:c.4955C>A
NM_001407881.1:c.4955C>A
NM_001407882.1:c.4955C>A
NM_001407884.1:c.4955C>A
NM_001407885.1:c.4955C>A
NM_001407886.1:c.4955C>A
NM_001407887.1:c.4955C>A
NM_001407889.1:c.4955C>A
NM_001407894.1:c.4952C>A
NM_001407895.1:c.4952C>A
NM_001407896.1:c.4952C>A
NM_001407897.1:c.4952C>A
NM_001407898.1:c.4952C>A
NM_001407899.1:c.4952C>A
NM_001407900.1:c.4952C>A
NM_001407902.1:c.4952C>A
NM_001407904.1:c.4952C>A
NM_001407906.1:c.4952C>A
NM_001407907.1:c.4952C>A
NM_001407908.1:c.4952C>A
NM_001407909.1:c.4952C>A
NM_001407910.1:c.4952C>A
NM_001407915.1:c.4949C>A
NM_001407916.1:c.4949C>A
NM_001407917.1:c.4949C>A
NM_001407918.1:c.4949C>A
NM_001407919.1:c.5042C>A
NM_001407920.1:c.4901C>A
NM_001407921.1:c.4901C>A
NM_001407922.1:c.4901C>A
NM_001407923.1:c.4901C>A
NM_001407924.1:c.4901C>A
NM_001407925.1:c.4901C>A
NM_001407926.1:c.4901C>A
NM_001407927.1:c.4898C>A
NM_001407928.1:c.4898C>A
NM_001407929.1:c.4898C>A
NM_001407930.1:c.4898C>A
NM_001407931.1:c.4898C>A
NM_001407932.1:c.4898C>A
NM_001407933.1:c.4898C>A
NM_001407934.1:c.4895C>A
NM_001407935.1:c.4895C>A
NM_001407936.1:c.4895C>A
NM_001407937.1:c.5042C>A
NM_001407938.1:c.5042C>A
NM_001407939.1:c.5039C>A
NM_001407940.1:c.5039C>A
NM_001407941.1:c.5036C>A
NM_001407942.1:c.5024C>A
NM_001407943.1:c.5021C>A
NM_001407944.1:c.5021C>A
NM_001407945.1:c.5021C>A
NM_001407946.1:c.4832C>A
NM_001407947.1:c.4832C>A
NM_001407948.1:c.4832C>A
NM_001407949.1:c.4832C>A
NM_001407950.1:c.4829C>A
NM_001407951.1:c.4829C>A
NM_001407952.1:c.4829C>A
NM_001407953.1:c.4829C>A
NM_001407954.1:c.4829C>A
NM_001407955.1:c.4829C>A
NM_001407956.1:c.4826C>A
NM_001407957.1:c.4826C>A
NM_001407958.1:c.4826C>A
NM_001407959.1:c.4784C>A
NM_001407960.1:c.4781C>A
NM_001407962.1:c.4781C>A
NM_001407963.1:c.4778C>A
NM_001407964.1:c.4703C>A
NM_001407965.1:c.4658C>A
NM_001407966.1:c.4277C>A
NM_001407967.1:c.4274C>A
NM_001407968.1:c.2561C>A
NM_001407969.1:c.2558C>A
NM_001407970.1:c.1922C>A
NM_001407971.1:c.1922C>A
NM_001407972.1:c.1919C>A
NM_001407973.1:c.1856C>A
NM_001407974.1:c.1856C>A
NM_001407975.1:c.1856C>A
NM_001407976.1:c.1856C>A
NM_001407977.1:c.1856C>A
NM_001407978.1:c.1856C>A
NM_001407979.1:c.1853C>A
NM_001407980.1:c.1853C>A
NM_001407981.1:c.1853C>A
NM_001407982.1:c.1853C>A
NM_001407983.1:c.1853C>A
NM_001407984.1:c.1853C>A
NM_001407985.1:c.1853C>A
NM_001407986.1:c.1853C>A
NM_001407990.1:c.1853C>A
NM_001407991.1:c.1853C>A
NM_001407992.1:c.1853C>A
NM_001407993.1:c.1853C>A
NM_001408392.1:c.1850C>A
NM_001408396.1:c.1850C>A
NM_001408397.1:c.1850C>A
NM_001408398.1:c.1850C>A
NM_001408399.1:c.1850C>A
NM_001408400.1:c.1850C>A
NM_001408401.1:c.1850C>A
NM_001408402.1:c.1850C>A
NM_001408403.1:c.1850C>A
NM_001408404.1:c.1850C>A
NM_001408406.1:c.1847C>A
NM_001408407.1:c.1847C>A
NM_001408408.1:c.1847C>A
NM_001408409.1:c.1844C>A
NM_001408410.1:c.1781C>A
NM_001408411.1:c.1778C>A
NM_001408412.1:c.1775C>A
NM_001408413.1:c.1775C>A
NM_001408414.1:c.1775C>A
NM_001408415.1:c.1775C>A
NM_001408416.1:c.1775C>A
NM_001408418.1:c.1739C>A
NM_001408419.1:c.1739C>A
NM_001408420.1:c.1739C>A
NM_001408421.1:c.1736C>A
NM_001408422.1:c.1736C>A
NM_001408423.1:c.1736C>A
NM_001408424.1:c.1736C>A
NM_001408425.1:c.1733C>A
NM_001408426.1:c.1733C>A
NM_001408427.1:c.1733C>A
NM_001408428.1:c.1733C>A
NM_001408429.1:c.1733C>A
NM_001408430.1:c.1733C>A
NM_001408431.1:c.1733C>A
NM_001408432.1:c.1730C>A
NM_001408433.1:c.1730C>A
NM_001408434.1:c.1730C>A
NM_001408435.1:c.1730C>A
NM_001408436.1:c.1730C>A
NM_001408437.1:c.1730C>A
NM_001408438.1:c.1730C>A
NM_001408439.1:c.1730C>A
NM_001408440.1:c.1730C>A
NM_001408441.1:c.1730C>A
NM_001408442.1:c.1730C>A
NM_001408443.1:c.1730C>A
NM_001408444.1:c.1730C>A
NM_001408445.1:c.1727C>A
NM_001408446.1:c.1727C>A
NM_001408447.1:c.1727C>A
NM_001408448.1:c.1727C>A
NM_001408450.1:c.1727C>A
NM_001408451.1:c.1721C>A
NM_001408452.1:c.1715C>A
NM_001408453.1:c.1715C>A
NM_001408454.1:c.1715C>A
NM_001408455.1:c.1715C>A
NM_001408456.1:c.1715C>A
NM_001408457.1:c.1715C>A
NM_001408458.1:c.1712C>A
NM_001408459.1:c.1712C>A
NM_001408460.1:c.1712C>A
NM_001408461.1:c.1712C>A
NM_001408462.1:c.1712C>A
NM_001408463.1:c.1712C>A
NM_001408464.1:c.1712C>A
NM_001408465.1:c.1712C>A
NM_001408466.1:c.1712C>A
NM_001408467.1:c.1712C>A
NM_001408468.1:c.1709C>A
NM_001408469.1:c.1709C>A
NM_001408470.1:c.1709C>A
NM_001408472.1:c.1853C>A
NM_001408473.1:c.1850C>A
NM_001408474.1:c.1655C>A
NM_001408475.1:c.1652C>A
NM_001408476.1:c.1652C>A
NM_001408478.1:c.1646C>A
NM_001408479.1:c.1646C>A
NM_001408480.1:c.1646C>A
NM_001408481.1:c.1643C>A
NM_001408482.1:c.1643C>A
NM_001408483.1:c.1643C>A
NM_001408484.1:c.1643C>A
NM_001408485.1:c.1643C>A
NM_001408489.1:c.1643C>A
NM_001408490.1:c.1643C>A
NM_001408491.1:c.1643C>A
NM_001408492.1:c.1640C>A
NM_001408493.1:c.1640C>A
NM_001408494.1:c.1616C>A
NM_001408495.1:c.1610C>A
NM_001408496.1:c.1592C>A
NM_001408497.1:c.1592C>A
NM_001408498.1:c.1592C>A
NM_001408499.1:c.1592C>A
NM_001408500.1:c.1592C>A
NM_001408501.1:c.1592C>A
NM_001408502.1:c.1589C>A
NM_001408503.1:c.1589C>A
NM_001408504.1:c.1589C>A
NM_001408505.1:c.1586C>A
NM_001408506.1:c.1529C>A
NM_001408507.1:c.1526C>A
NM_001408508.1:c.1517C>A
NM_001408509.1:c.1514C>A
NM_001408510.1:c.1475C>A
NM_001408511.1:c.1472C>A
NM_001408512.1:c.1352C>A
NM_001408513.1:c.1325C>A
NM_001408514.1:c.929C>A
NM_007294.4:c.5165C>AMANE SELECT
NM_007297.4:c.5024C>A
NM_007298.4:c.1853C>A
NM_007299.4:c.1853C>A
NM_007300.4:c.5228C>A
NM_007304.2:c.1853C>A
NP_001394500.1:p.Ser1651Tyr
NP_001394510.1:p.Ser1744Tyr
NP_001394511.1:p.Ser1744Tyr
NP_001394512.1:p.Ser1743Tyr
NP_001394514.1:p.Ser1743Tyr
NP_001394516.1:p.Ser1743Tyr
NP_001394519.1:p.Ser1742Tyr
NP_001394520.1:p.Ser1742Tyr
NP_001394522.1:p.Ser1722Tyr
NP_001394523.1:p.Ser1722Tyr
NP_001394525.1:p.Ser1722Tyr
NP_001394526.1:p.Ser1722Tyr
NP_001394527.1:p.Ser1722Tyr
NP_001394531.1:p.Ser1722Tyr
NP_001394532.1:p.Ser1722Tyr
NP_001394534.1:p.Ser1722Tyr
NP_001394539.1:p.Ser1721Tyr
NP_001394540.1:p.Ser1721Tyr
NP_001394541.1:p.Ser1721Tyr
NP_001394542.1:p.Ser1721Tyr
NP_001394543.1:p.Ser1721Tyr
NP_001394544.1:p.Ser1721Tyr
NP_001394545.1:p.Ser1721Tyr
NP_001394546.1:p.Ser1721Tyr
NP_001394547.1:p.Ser1721Tyr
NP_001394548.1:p.Ser1721Tyr
NP_001394549.1:p.Ser1721Tyr
NP_001394550.1:p.Ser1721Tyr
NP_001394551.1:p.Ser1721Tyr
NP_001394552.1:p.Ser1721Tyr
NP_001394553.1:p.Ser1721Tyr
NP_001394554.1:p.Ser1721Tyr
NP_001394555.1:p.Ser1721Tyr
NP_001394556.1:p.Ser1720Tyr
NP_001394557.1:p.Ser1720Tyr
NP_001394558.1:p.Ser1720Tyr
NP_001394559.1:p.Ser1720Tyr
NP_001394560.1:p.Ser1720Tyr
NP_001394561.1:p.Ser1720Tyr
NP_001394562.1:p.Ser1720Tyr
NP_001394563.1:p.Ser1720Tyr
NP_001394564.1:p.Ser1720Tyr
NP_001394565.1:p.Ser1720Tyr
NP_001394566.1:p.Ser1720Tyr
NP_001394567.1:p.Ser1720Tyr
NP_001394568.1:p.Ser1720Tyr
NP_001394569.1:p.Ser1720Tyr
NP_001394570.1:p.Ser1720Tyr
NP_001394571.1:p.Ser1720Tyr
NP_001394573.1:p.Ser1719Tyr
NP_001394574.1:p.Ser1719Tyr
NP_001394575.1:p.Ser1718Tyr
NP_001394576.1:p.Ser1717Tyr
NP_001394577.1:p.Ser1703Tyr
NP_001394578.1:p.Ser1702Tyr
NP_001394581.1:p.Ser1696Tyr
NP_001394582.1:p.Ser1696Tyr
NP_001394583.1:p.Ser1696Tyr
NP_001394584.1:p.Ser1696Tyr
NP_001394585.1:p.Ser1695Tyr
NP_001394586.1:p.Ser1695Tyr
NP_001394587.1:p.Ser1695Tyr
NP_001394588.1:p.Ser1694Tyr
NP_001394589.1:p.Ser1694Tyr
NP_001394590.1:p.Ser1694Tyr
NP_001394591.1:p.Ser1694Tyr
NP_001394592.1:p.Ser1694Tyr
NP_001394593.1:p.Ser1681Tyr
NP_001394594.1:p.Ser1681Tyr
NP_001394595.1:p.Ser1681Tyr
NP_001394596.1:p.Ser1681Tyr
NP_001394597.1:p.Ser1681Tyr
NP_001394598.1:p.Ser1681Tyr
NP_001394599.1:p.Ser1680Tyr
NP_001394600.1:p.Ser1680Tyr
NP_001394601.1:p.Ser1680Tyr
NP_001394602.1:p.Ser1680Tyr
NP_001394603.1:p.Ser1680Tyr
NP_001394604.1:p.Ser1680Tyr
NP_001394605.1:p.Ser1680Tyr
NP_001394606.1:p.Ser1680Tyr
NP_001394607.1:p.Ser1680Tyr
NP_001394608.1:p.Ser1680Tyr
NP_001394609.1:p.Ser1680Tyr
NP_001394610.1:p.Ser1679Tyr
NP_001394611.1:p.Ser1679Tyr
NP_001394612.1:p.Ser1679Tyr
NP_001394613.1:p.Ser1722Tyr
NP_001394614.1:p.Ser1679Tyr
NP_001394615.1:p.Ser1679Tyr
NP_001394616.1:p.Ser1679Tyr
NP_001394617.1:p.Ser1679Tyr
NP_001394618.1:p.Ser1679Tyr
NP_001394619.1:p.Ser1678Tyr
NP_001394620.1:p.Ser1678Tyr
NP_001394621.1:p.Ser1675Tyr
NP_001394623.1:p.Ser1675Tyr
NP_001394624.1:p.Ser1675Tyr
NP_001394625.1:p.Ser1675Tyr
NP_001394626.1:p.Ser1675Tyr
NP_001394627.1:p.Ser1675Tyr
NP_001394653.1:p.Ser1675Tyr
NP_001394654.1:p.Ser1675Tyr
NP_001394655.1:p.Ser1675Tyr
NP_001394656.1:p.Ser1675Tyr
NP_001394657.1:p.Ser1675Tyr
NP_001394658.1:p.Ser1675Tyr
NP_001394659.1:p.Ser1675Tyr
NP_001394660.1:p.Ser1675Tyr
NP_001394661.1:p.Ser1674Tyr
NP_001394662.1:p.Ser1674Tyr
NP_001394663.1:p.Ser1674Tyr
NP_001394664.1:p.Ser1674Tyr
NP_001394665.1:p.Ser1674Tyr
NP_001394666.1:p.Ser1674Tyr
NP_001394667.1:p.Ser1674Tyr
NP_001394668.1:p.Ser1674Tyr
NP_001394669.1:p.Ser1674Tyr
NP_001394670.1:p.Ser1674Tyr
NP_001394671.1:p.Ser1674Tyr
NP_001394672.1:p.Ser1674Tyr
NP_001394673.1:p.Ser1674Tyr
NP_001394674.1:p.Ser1674Tyr
NP_001394675.1:p.Ser1674Tyr
NP_001394676.1:p.Ser1674Tyr
NP_001394677.1:p.Ser1674Tyr
NP_001394678.1:p.Ser1674Tyr
NP_001394679.1:p.Ser1674Tyr
NP_001394680.1:p.Ser1674Tyr
NP_001394681.1:p.Ser1674Tyr
NP_001394767.1:p.Ser1673Tyr
NP_001394768.1:p.Ser1673Tyr
NP_001394770.1:p.Ser1673Tyr
NP_001394771.1:p.Ser1673Tyr
NP_001394772.1:p.Ser1673Tyr
NP_001394773.1:p.Ser1673Tyr
NP_001394774.1:p.Ser1673Tyr
NP_001394775.1:p.Ser1673Tyr
NP_001394776.1:p.Ser1673Tyr
NP_001394777.1:p.Ser1673Tyr
NP_001394778.1:p.Ser1673Tyr
NP_001394779.1:p.Ser1673Tyr
NP_001394780.1:p.Ser1673Tyr
NP_001394781.1:p.Ser1673Tyr
NP_001394782.1:p.Ser1673Tyr
NP_001394783.1:p.Ser1722Tyr
NP_001394787.1:p.Ser1721Tyr
NP_001394788.1:p.Ser1721Tyr
NP_001394789.1:p.Ser1721Tyr
NP_001394790.1:p.Ser1720Tyr
NP_001394791.1:p.Ser1655Tyr
NP_001394792.1:p.Ser1654Tyr
NP_001394803.1:p.Ser1653Tyr
NP_001394804.1:p.Ser1653Tyr
NP_001394808.1:p.Ser1652Tyr
NP_001394810.1:p.Ser1652Tyr
NP_001394811.1:p.Ser1652Tyr
NP_001394813.1:p.Ser1652Tyr
NP_001394814.1:p.Ser1652Tyr
NP_001394815.1:p.Ser1652Tyr
NP_001394816.1:p.Ser1652Tyr
NP_001394818.1:p.Ser1652Tyr
NP_001394823.1:p.Ser1651Tyr
NP_001394824.1:p.Ser1651Tyr
NP_001394825.1:p.Ser1651Tyr
NP_001394826.1:p.Ser1651Tyr
NP_001394827.1:p.Ser1651Tyr
NP_001394828.1:p.Ser1651Tyr
NP_001394829.1:p.Ser1651Tyr
NP_001394831.1:p.Ser1651Tyr
NP_001394833.1:p.Ser1651Tyr
NP_001394835.1:p.Ser1651Tyr
NP_001394836.1:p.Ser1651Tyr
NP_001394837.1:p.Ser1651Tyr
NP_001394838.1:p.Ser1651Tyr
NP_001394839.1:p.Ser1651Tyr
NP_001394844.1:p.Ser1650Tyr
NP_001394845.1:p.Ser1650Tyr
NP_001394846.1:p.Ser1650Tyr
NP_001394847.1:p.Ser1650Tyr
NP_001394848.1:p.Ser1681Tyr
NP_001394849.1:p.Ser1634Tyr
NP_001394850.1:p.Ser1634Tyr
NP_001394851.1:p.Ser1634Tyr
NP_001394852.1:p.Ser1634Tyr
NP_001394853.1:p.Ser1634Tyr
NP_001394854.1:p.Ser1634Tyr
NP_001394855.1:p.Ser1634Tyr
NP_001394856.1:p.Ser1633Tyr
NP_001394857.1:p.Ser1633Tyr
NP_001394858.1:p.Ser1633Tyr
NP_001394859.1:p.Ser1633Tyr
NP_001394860.1:p.Ser1633Tyr
NP_001394861.1:p.Ser1633Tyr
NP_001394862.1:p.Ser1633Tyr
NP_001394863.1:p.Ser1632Tyr
NP_001394864.1:p.Ser1632Tyr
NP_001394865.1:p.Ser1632Tyr
NP_001394866.1:p.Ser1681Tyr
NP_001394867.1:p.Ser1681Tyr
NP_001394868.1:p.Ser1680Tyr
NP_001394869.1:p.Ser1680Tyr
NP_001394870.1:p.Ser1679Tyr
NP_001394871.1:p.Ser1675Tyr
NP_001394872.1:p.Ser1674Tyr
NP_001394873.1:p.Ser1674Tyr
NP_001394874.1:p.Ser1674Tyr
NP_001394875.1:p.Ser1611Tyr
NP_001394876.1:p.Ser1611Tyr
NP_001394877.1:p.Ser1611Tyr
NP_001394878.1:p.Ser1611Tyr
NP_001394879.1:p.Ser1610Tyr
NP_001394880.1:p.Ser1610Tyr
NP_001394881.1:p.Ser1610Tyr
NP_001394882.1:p.Ser1610Tyr
NP_001394883.1:p.Ser1610Tyr
NP_001394884.1:p.Ser1610Tyr
NP_001394885.1:p.Ser1609Tyr
NP_001394886.1:p.Ser1609Tyr
NP_001394887.1:p.Ser1609Tyr
NP_001394888.1:p.Ser1595Tyr
NP_001394889.1:p.Ser1594Tyr
NP_001394891.1:p.Ser1594Tyr
NP_001394892.1:p.Ser1593Tyr
NP_001394893.1:p.Ser1568Tyr
NP_001394894.1:p.Ser1553Tyr
NP_001394895.1:p.Ser1426Tyr
NP_001394896.1:p.Ser1425Tyr
NP_001394897.1:p.Ser854Tyr
NP_001394898.1:p.Ser853Tyr
NP_001394899.1:p.Ser641Tyr
NP_001394900.1:p.Ser641Tyr
NP_001394901.1:p.Ser640Tyr
NP_001394902.1:p.Ser619Tyr
NP_001394903.1:p.Ser619Tyr
NP_001394904.1:p.Ser619Tyr
NP_001394905.1:p.Ser619Tyr
NP_001394906.1:p.Ser619Tyr
NP_001394907.1:p.Ser619Tyr
NP_001394908.1:p.Ser618Tyr
NP_001394909.1:p.Ser618Tyr
NP_001394910.1:p.Ser618Tyr
NP_001394911.1:p.Ser618Tyr
NP_001394912.1:p.Ser618Tyr
NP_001394913.1:p.Ser618Tyr
NP_001394914.1:p.Ser618Tyr
NP_001394915.1:p.Ser618Tyr
NP_001394919.1:p.Ser618Tyr
NP_001394920.1:p.Ser618Tyr
NP_001394921.1:p.Ser618Tyr
NP_001394922.1:p.Ser618Tyr
NP_001395321.1:p.Ser617Tyr
NP_001395325.1:p.Ser617Tyr
NP_001395326.1:p.Ser617Tyr
NP_001395327.1:p.Ser617Tyr
NP_001395328.1:p.Ser617Tyr
NP_001395329.1:p.Ser617Tyr
NP_001395330.1:p.Ser617Tyr
NP_001395331.1:p.Ser617Tyr
NP_001395332.1:p.Ser617Tyr
NP_001395333.1:p.Ser617Tyr
NP_001395335.1:p.Ser616Tyr
NP_001395336.1:p.Ser616Tyr
NP_001395337.1:p.Ser616Tyr
NP_001395338.1:p.Ser615Tyr
NP_001395339.1:p.Ser594Tyr
NP_001395340.1:p.Ser593Tyr
NP_001395341.1:p.Ser592Tyr
NP_001395342.1:p.Ser592Tyr
NP_001395343.1:p.Ser592Tyr
NP_001395344.1:p.Ser592Tyr
NP_001395345.1:p.Ser592Tyr
NP_001395347.1:p.Ser580Tyr
NP_001395348.1:p.Ser580Tyr
NP_001395349.1:p.Ser580Tyr
NP_001395350.1:p.Ser579Tyr
NP_001395351.1:p.Ser579Tyr
NP_001395352.1:p.Ser579Tyr
NP_001395353.1:p.Ser579Tyr
NP_001395354.1:p.Ser578Tyr
NP_001395355.1:p.Ser578Tyr
NP_001395356.1:p.Ser578Tyr
NP_001395357.1:p.Ser578Tyr
NP_001395358.1:p.Ser578Tyr
NP_001395359.1:p.Ser578Tyr
NP_001395360.1:p.Ser578Tyr
NP_001395361.1:p.Ser577Tyr
NP_001395362.1:p.Ser577Tyr
NP_001395363.1:p.Ser577Tyr
NP_001395364.1:p.Ser577Tyr
NP_001395365.1:p.Ser577Tyr
NP_001395366.1:p.Ser577Tyr
NP_001395367.1:p.Ser577Tyr
NP_001395368.1:p.Ser577Tyr
NP_001395369.1:p.Ser577Tyr
NP_001395370.1:p.Ser577Tyr
NP_001395371.1:p.Ser577Tyr
NP_001395372.1:p.Ser577Tyr
NP_001395373.1:p.Ser577Tyr
NP_001395374.1:p.Ser576Tyr
NP_001395375.1:p.Ser576Tyr
NP_001395376.1:p.Ser576Tyr
NP_001395377.1:p.Ser576Tyr
NP_001395379.1:p.Ser576Tyr
NP_001395380.1:p.Ser574Tyr
NP_001395381.1:p.Ser572Tyr
NP_001395382.1:p.Ser572Tyr
NP_001395383.1:p.Ser572Tyr
NP_001395384.1:p.Ser572Tyr
NP_001395385.1:p.Ser572Tyr
NP_001395386.1:p.Ser572Tyr
NP_001395387.1:p.Ser571Tyr
NP_001395388.1:p.Ser571Tyr
NP_001395389.1:p.Ser571Tyr
NP_001395390.1:p.Ser571Tyr
NP_001395391.1:p.Ser571Tyr
NP_001395392.1:p.Ser571Tyr
NP_001395393.1:p.Ser571Tyr
NP_001395394.1:p.Ser571Tyr
NP_001395395.1:p.Ser571Tyr
NP_001395396.1:p.Ser571Tyr
NP_001395397.1:p.Ser570Tyr
NP_001395398.1:p.Ser570Tyr
NP_001395399.1:p.Ser570Tyr
NP_001395401.1:p.Ser618Tyr
NP_001395402.1:p.Ser617Tyr
NP_001395403.1:p.Ser552Tyr
NP_001395404.1:p.Ser551Tyr
NP_001395405.1:p.Ser551Tyr
NP_001395407.1:p.Ser549Tyr
NP_001395408.1:p.Ser549Tyr
NP_001395409.1:p.Ser549Tyr
NP_001395410.1:p.Ser548Tyr
NP_001395411.1:p.Ser548Tyr
NP_001395412.1:p.Ser548Tyr
NP_001395413.1:p.Ser548Tyr
NP_001395414.1:p.Ser548Tyr
NP_001395418.1:p.Ser548Tyr
NP_001395419.1:p.Ser548Tyr
NP_001395420.1:p.Ser548Tyr
NP_001395421.1:p.Ser547Tyr
NP_001395422.1:p.Ser547Tyr
NP_001395423.1:p.Ser539Tyr
NP_001395424.1:p.Ser537Tyr
NP_001395425.1:p.Ser531Tyr
NP_001395426.1:p.Ser531Tyr
NP_001395427.1:p.Ser531Tyr
NP_001395428.1:p.Ser531Tyr
NP_001395429.1:p.Ser531Tyr
NP_001395430.1:p.Ser531Tyr
NP_001395431.1:p.Ser530Tyr
NP_001395432.1:p.Ser530Tyr
NP_001395433.1:p.Ser530Tyr
NP_001395434.1:p.Ser529Tyr
NP_001395435.1:p.Ser510Tyr
NP_001395436.1:p.Ser509Tyr
NP_001395437.1:p.Ser506Tyr
NP_001395438.1:p.Ser505Tyr
NP_001395439.1:p.Ser492Tyr
NP_001395440.1:p.Ser491Tyr
NP_001395441.1:p.Ser451Tyr
NP_001395442.1:p.Ser442Tyr
NP_001395443.1:p.Ser310Tyr
NP_009225.1:p.Ser1722Tyr
NP_009225.1:p.Ser1722Tyr
NP_009228.2:p.Ser1675Tyr
NP_009229.2:p.Ser618Tyr
NP_009229.2:p.Ser618Tyr
NP_009230.2:p.Ser618Tyr
NP_009231.2:p.Ser1743Tyr
NP_009235.2:p.Ser618Tyr
LRG_292t1:c.5165C>A
LRG_292:g.154623C>A
LRG_292p1:p.Ser1722Tyr
NC_000017.10:g.41215378G>T
NM_007294.3:c.5165C>A
NM_007298.3:c.1853C>A
NR_027676.2:n.5342C>A

Protein change:

S1425Y

Links:

dbSNP: rs80357104

NCBI 1000 Genomes Browser:

rs80357104

Molecular consequence:

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

Functional consequence:

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

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000759024	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Mar 10, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 30209399, 12496477, 20516115, 25085752, 28492532
SCV004227961	German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	criteria provided, single submitter (ClinGen BRCA1 V1.0.0)	Likely pathogenic (Jan 5, 2024)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000759024

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Mar 10, 2023)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV004227961

German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne

criteria provided, single submitter

(ClinGen BRCA1 V1.0.0)

Likely pathogenic
(Jan 5, 2024)

germline

curation

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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

Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation.

Carvalho MA, Billack B, Chan E, Worley T, Cayanan C, Monteiro AN.

Cancer Biol Ther. 2002 Sep-Oct;1(5):502-8.

PubMed [citation]

PMID:: 12496477

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000759024.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA1 function (PMID: 30209399). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 491098). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 1722 of the BRCA1 protein (p.Ser1722Tyr). This variant disrupts the p.Ser1722 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12496477, 20516115, 25085752). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been 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 German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, SCV004227961.1

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

Description

. According to the ClinGen ENIGMA BRCA1 v1.0.0 criteria we chose these criteria: PS3 (strong pathogenic): LOF in Findlay GM et al. Nature, 2018 10;562:217-222, Petitalot A et al. Mol. Cancer Res., 2019 01;17:54-69, PM2 (supporting pathogenic): not in gnomAD, PP1 (supporting pathogenic): Parsons et al. Segregation LR 4.84 (PP1_mod)

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

Last Updated: Oct 8, 2024

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