NM_007294.4(BRCA1):c.5007C>T (p.Ala1669=) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 25, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002526048.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.5007C>T (p.Ala1669=)]

NM_007294.4(BRCA1):c.5007C>T (p.Ala1669=)

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.5007C>T (p.Ala1669=)

HGVS:

NC_000017.11:g.43067675G>A
NG_005905.2:g.150309C>T
NM_001407571.1:c.4794C>T
NM_001407581.1:c.5073C>T
NM_001407582.1:c.5073C>T
NM_001407583.1:c.5070C>T
NM_001407585.1:c.5070C>T
NM_001407587.1:c.5070C>T
NM_001407590.1:c.5067C>T
NM_001407591.1:c.5067C>T
NM_001407593.1:c.5007C>T
NM_001407594.1:c.5007C>T
NM_001407596.1:c.5007C>T
NM_001407597.1:c.5007C>T
NM_001407598.1:c.5007C>T
NM_001407602.1:c.5007C>T
NM_001407603.1:c.5007C>T
NM_001407605.1:c.5007C>T
NM_001407610.1:c.5004C>T
NM_001407611.1:c.5004C>T
NM_001407612.1:c.5004C>T
NM_001407613.1:c.5004C>T
NM_001407614.1:c.5004C>T
NM_001407615.1:c.5004C>T
NM_001407616.1:c.5004C>T
NM_001407617.1:c.5004C>T
NM_001407618.1:c.5004C>T
NM_001407619.1:c.5004C>T
NM_001407620.1:c.5004C>T
NM_001407621.1:c.5004C>T
NM_001407622.1:c.5004C>T
NM_001407623.1:c.5004C>T
NM_001407624.1:c.5004C>T
NM_001407625.1:c.5004C>T
NM_001407626.1:c.5004C>T
NM_001407627.1:c.5001C>T
NM_001407628.1:c.5001C>T
NM_001407629.1:c.5001C>T
NM_001407630.1:c.5001C>T
NM_001407631.1:c.5001C>T
NM_001407632.1:c.5001C>T
NM_001407633.1:c.5001C>T
NM_001407634.1:c.5001C>T
NM_001407635.1:c.5001C>T
NM_001407636.1:c.5001C>T
NM_001407637.1:c.5001C>T
NM_001407638.1:c.5001C>T
NM_001407639.1:c.5001C>T
NM_001407640.1:c.5001C>T
NM_001407641.1:c.5001C>T
NM_001407642.1:c.5001C>T
NM_001407644.1:c.4998C>T
NM_001407645.1:c.4998C>T
NM_001407646.1:c.4995C>T
NM_001407647.1:c.4992C>T
NM_001407648.1:c.4950C>T
NM_001407649.1:c.4947C>T
NM_001407652.1:c.5007C>T
NM_001407653.1:c.4929C>T
NM_001407654.1:c.4929C>T
NM_001407655.1:c.4929C>T
NM_001407656.1:c.4926C>T
NM_001407657.1:c.4926C>T
NM_001407658.1:c.4926C>T
NM_001407659.1:c.4923C>T
NM_001407660.1:c.4923C>T
NM_001407661.1:c.4923C>T
NM_001407662.1:c.4923C>T
NM_001407663.1:c.4923C>T
NM_001407664.1:c.4884C>T
NM_001407665.1:c.4884C>T
NM_001407666.1:c.4884C>T
NM_001407667.1:c.4884C>T
NM_001407668.1:c.4884C>T
NM_001407669.1:c.4884C>T
NM_001407670.1:c.4881C>T
NM_001407671.1:c.4881C>T
NM_001407672.1:c.4881C>T
NM_001407673.1:c.4881C>T
NM_001407674.1:c.4881C>T
NM_001407675.1:c.4881C>T
NM_001407676.1:c.4881C>T
NM_001407677.1:c.4881C>T
NM_001407678.1:c.4881C>T
NM_001407679.1:c.4881C>T
NM_001407680.1:c.4881C>T
NM_001407681.1:c.4878C>T
NM_001407682.1:c.4878C>T
NM_001407683.1:c.4878C>T
NM_001407684.1:c.5007C>T
NM_001407685.1:c.4878C>T
NM_001407686.1:c.4878C>T
NM_001407687.1:c.4878C>T
NM_001407688.1:c.4878C>T
NM_001407689.1:c.4878C>T
NM_001407690.1:c.4875C>T
NM_001407691.1:c.4875C>T
NM_001407692.1:c.4866C>T
NM_001407694.1:c.4866C>T
NM_001407695.1:c.4866C>T
NM_001407696.1:c.4866C>T
NM_001407697.1:c.4866C>T
NM_001407698.1:c.4866C>T
NM_001407724.1:c.4866C>T
NM_001407725.1:c.4866C>T
NM_001407726.1:c.4866C>T
NM_001407727.1:c.4866C>T
NM_001407728.1:c.4866C>T
NM_001407729.1:c.4866C>T
NM_001407730.1:c.4866C>T
NM_001407731.1:c.4866C>T
NM_001407732.1:c.4863C>T
NM_001407733.1:c.4863C>T
NM_001407734.1:c.4863C>T
NM_001407735.1:c.4863C>T
NM_001407736.1:c.4863C>T
NM_001407737.1:c.4863C>T
NM_001407738.1:c.4863C>T
NM_001407739.1:c.4863C>T
NM_001407740.1:c.4863C>T
NM_001407741.1:c.4863C>T
NM_001407742.1:c.4863C>T
NM_001407743.1:c.4863C>T
NM_001407744.1:c.4863C>T
NM_001407745.1:c.4863C>T
NM_001407746.1:c.4863C>T
NM_001407747.1:c.4863C>T
NM_001407748.1:c.4863C>T
NM_001407749.1:c.4863C>T
NM_001407750.1:c.4863C>T
NM_001407751.1:c.4863C>T
NM_001407752.1:c.4863C>T
NM_001407838.1:c.4860C>T
NM_001407839.1:c.4860C>T
NM_001407841.1:c.4860C>T
NM_001407842.1:c.4860C>T
NM_001407843.1:c.4860C>T
NM_001407844.1:c.4860C>T
NM_001407845.1:c.4860C>T
NM_001407846.1:c.4860C>T
NM_001407847.1:c.4860C>T
NM_001407848.1:c.4860C>T
NM_001407849.1:c.4860C>T
NM_001407850.1:c.4860C>T
NM_001407851.1:c.4860C>T
NM_001407852.1:c.4860C>T
NM_001407853.1:c.4860C>T
NM_001407854.1:c.5007C>T
NM_001407858.1:c.5004C>T
NM_001407859.1:c.5004C>T
NM_001407860.1:c.5004C>T
NM_001407861.1:c.5001C>T
NM_001407862.1:c.4806C>T
NM_001407863.1:c.4881C>T
NM_001407874.1:c.4800C>T
NM_001407875.1:c.4800C>T
NM_001407879.1:c.4797C>T
NM_001407881.1:c.4797C>T
NM_001407882.1:c.4797C>T
NM_001407884.1:c.4797C>T
NM_001407885.1:c.4797C>T
NM_001407886.1:c.4797C>T
NM_001407887.1:c.4797C>T
NM_001407889.1:c.4797C>T
NM_001407894.1:c.4794C>T
NM_001407895.1:c.4794C>T
NM_001407896.1:c.4794C>T
NM_001407897.1:c.4794C>T
NM_001407898.1:c.4794C>T
NM_001407899.1:c.4794C>T
NM_001407900.1:c.4794C>T
NM_001407902.1:c.4794C>T
NM_001407904.1:c.4794C>T
NM_001407906.1:c.4794C>T
NM_001407907.1:c.4794C>T
NM_001407908.1:c.4794C>T
NM_001407909.1:c.4794C>T
NM_001407910.1:c.4794C>T
NM_001407915.1:c.4791C>T
NM_001407916.1:c.4791C>T
NM_001407917.1:c.4791C>T
NM_001407918.1:c.4791C>T
NM_001407919.1:c.4884C>T
NM_001407920.1:c.4743C>T
NM_001407921.1:c.4743C>T
NM_001407922.1:c.4743C>T
NM_001407923.1:c.4743C>T
NM_001407924.1:c.4743C>T
NM_001407925.1:c.4743C>T
NM_001407926.1:c.4743C>T
NM_001407927.1:c.4740C>T
NM_001407928.1:c.4740C>T
NM_001407929.1:c.4740C>T
NM_001407930.1:c.4740C>T
NM_001407931.1:c.4740C>T
NM_001407932.1:c.4740C>T
NM_001407933.1:c.4740C>T
NM_001407934.1:c.4737C>T
NM_001407935.1:c.4737C>T
NM_001407936.1:c.4737C>T
NM_001407937.1:c.4884C>T
NM_001407938.1:c.4884C>T
NM_001407939.1:c.4881C>T
NM_001407940.1:c.4881C>T
NM_001407941.1:c.4878C>T
NM_001407942.1:c.4866C>T
NM_001407943.1:c.4863C>T
NM_001407944.1:c.4863C>T
NM_001407945.1:c.4863C>T
NM_001407946.1:c.4674C>T
NM_001407947.1:c.4674C>T
NM_001407948.1:c.4674C>T
NM_001407949.1:c.4674C>T
NM_001407950.1:c.4671C>T
NM_001407951.1:c.4671C>T
NM_001407952.1:c.4671C>T
NM_001407953.1:c.4671C>T
NM_001407954.1:c.4671C>T
NM_001407955.1:c.4671C>T
NM_001407956.1:c.4668C>T
NM_001407957.1:c.4668C>T
NM_001407958.1:c.4668C>T
NM_001407959.1:c.4626C>T
NM_001407960.1:c.4623C>T
NM_001407962.1:c.4623C>T
NM_001407963.1:c.4620C>T
NM_001407964.1:c.4545C>T
NM_001407965.1:c.4500C>T
NM_001407966.1:c.4119C>T
NM_001407967.1:c.4116C>T
NM_001407968.1:c.2403C>T
NM_001407969.1:c.2400C>T
NM_001407970.1:c.1764C>T
NM_001407971.1:c.1764C>T
NM_001407972.1:c.1761C>T
NM_001407973.1:c.1698C>T
NM_001407974.1:c.1698C>T
NM_001407975.1:c.1698C>T
NM_001407976.1:c.1698C>T
NM_001407977.1:c.1698C>T
NM_001407978.1:c.1698C>T
NM_001407979.1:c.1695C>T
NM_001407980.1:c.1695C>T
NM_001407981.1:c.1695C>T
NM_001407982.1:c.1695C>T
NM_001407983.1:c.1695C>T
NM_001407984.1:c.1695C>T
NM_001407985.1:c.1695C>T
NM_001407986.1:c.1695C>T
NM_001407990.1:c.1695C>T
NM_001407991.1:c.1695C>T
NM_001407992.1:c.1695C>T
NM_001407993.1:c.1695C>T
NM_001408392.1:c.1692C>T
NM_001408396.1:c.1692C>T
NM_001408397.1:c.1692C>T
NM_001408398.1:c.1692C>T
NM_001408399.1:c.1692C>T
NM_001408400.1:c.1692C>T
NM_001408401.1:c.1692C>T
NM_001408402.1:c.1692C>T
NM_001408403.1:c.1692C>T
NM_001408404.1:c.1692C>T
NM_001408406.1:c.1689C>T
NM_001408407.1:c.1689C>T
NM_001408408.1:c.1689C>T
NM_001408409.1:c.1686C>T
NM_001408410.1:c.1623C>T
NM_001408411.1:c.1620C>T
NM_001408412.1:c.1617C>T
NM_001408413.1:c.1617C>T
NM_001408414.1:c.1617C>T
NM_001408415.1:c.1617C>T
NM_001408416.1:c.1617C>T
NM_001408418.1:c.1581C>T
NM_001408419.1:c.1581C>T
NM_001408420.1:c.1581C>T
NM_001408421.1:c.1578C>T
NM_001408422.1:c.1578C>T
NM_001408423.1:c.1578C>T
NM_001408424.1:c.1578C>T
NM_001408425.1:c.1575C>T
NM_001408426.1:c.1575C>T
NM_001408427.1:c.1575C>T
NM_001408428.1:c.1575C>T
NM_001408429.1:c.1575C>T
NM_001408430.1:c.1575C>T
NM_001408431.1:c.1575C>T
NM_001408432.1:c.1572C>T
NM_001408433.1:c.1572C>T
NM_001408434.1:c.1572C>T
NM_001408435.1:c.1572C>T
NM_001408436.1:c.1572C>T
NM_001408437.1:c.1572C>T
NM_001408438.1:c.1572C>T
NM_001408439.1:c.1572C>T
NM_001408440.1:c.1572C>T
NM_001408441.1:c.1572C>T
NM_001408442.1:c.1572C>T
NM_001408443.1:c.1572C>T
NM_001408444.1:c.1572C>T
NM_001408445.1:c.1569C>T
NM_001408446.1:c.1569C>T
NM_001408447.1:c.1569C>T
NM_001408448.1:c.1569C>T
NM_001408450.1:c.1569C>T
NM_001408451.1:c.1563C>T
NM_001408452.1:c.1557C>T
NM_001408453.1:c.1557C>T
NM_001408454.1:c.1557C>T
NM_001408455.1:c.1557C>T
NM_001408456.1:c.1557C>T
NM_001408457.1:c.1557C>T
NM_001408458.1:c.1554C>T
NM_001408459.1:c.1554C>T
NM_001408460.1:c.1554C>T
NM_001408461.1:c.1554C>T
NM_001408462.1:c.1554C>T
NM_001408463.1:c.1554C>T
NM_001408464.1:c.1554C>T
NM_001408465.1:c.1554C>T
NM_001408466.1:c.1554C>T
NM_001408467.1:c.1554C>T
NM_001408468.1:c.1551C>T
NM_001408469.1:c.1551C>T
NM_001408470.1:c.1551C>T
NM_001408472.1:c.1695C>T
NM_001408473.1:c.1692C>T
NM_001408474.1:c.1497C>T
NM_001408475.1:c.1494C>T
NM_001408476.1:c.1494C>T
NM_001408478.1:c.1488C>T
NM_001408479.1:c.1488C>T
NM_001408480.1:c.1488C>T
NM_001408481.1:c.1485C>T
NM_001408482.1:c.1485C>T
NM_001408483.1:c.1485C>T
NM_001408484.1:c.1485C>T
NM_001408485.1:c.1485C>T
NM_001408489.1:c.1485C>T
NM_001408490.1:c.1485C>T
NM_001408491.1:c.1485C>T
NM_001408492.1:c.1482C>T
NM_001408493.1:c.1482C>T
NM_001408494.1:c.1458C>T
NM_001408495.1:c.1452C>T
NM_001408496.1:c.1434C>T
NM_001408497.1:c.1434C>T
NM_001408498.1:c.1434C>T
NM_001408499.1:c.1434C>T
NM_001408500.1:c.1434C>T
NM_001408501.1:c.1434C>T
NM_001408502.1:c.1431C>T
NM_001408503.1:c.1431C>T
NM_001408504.1:c.1431C>T
NM_001408505.1:c.1428C>T
NM_001408506.1:c.1371C>T
NM_001408507.1:c.1368C>T
NM_001408508.1:c.1359C>T
NM_001408509.1:c.1356C>T
NM_001408510.1:c.1317C>T
NM_001408511.1:c.1314C>T
NM_001408512.1:c.1194C>T
NM_001408513.1:c.1167C>T
NM_001408514.1:c.839-3724C>T
NM_007294.4:c.5007C>TMANE SELECT
NM_007297.4:c.4866C>T
NM_007298.4:c.1695C>T
NM_007299.4:c.1695C>T
NM_007300.4:c.5070C>T
NM_007304.2:c.1695C>T
NP_001394500.1:p.Ala1598=
NP_001394510.1:p.Ala1691=
NP_001394511.1:p.Ala1691=
NP_001394512.1:p.Ala1690=
NP_001394514.1:p.Ala1690=
NP_001394516.1:p.Ala1690=
NP_001394519.1:p.Ala1689=
NP_001394520.1:p.Ala1689=
NP_001394522.1:p.Ala1669=
NP_001394523.1:p.Ala1669=
NP_001394525.1:p.Ala1669=
NP_001394526.1:p.Ala1669=
NP_001394527.1:p.Ala1669=
NP_001394531.1:p.Ala1669=
NP_001394532.1:p.Ala1669=
NP_001394534.1:p.Ala1669=
NP_001394539.1:p.Ala1668=
NP_001394540.1:p.Ala1668=
NP_001394541.1:p.Ala1668=
NP_001394542.1:p.Ala1668=
NP_001394543.1:p.Ala1668=
NP_001394544.1:p.Ala1668=
NP_001394545.1:p.Ala1668=
NP_001394546.1:p.Ala1668=
NP_001394547.1:p.Ala1668=
NP_001394548.1:p.Ala1668=
NP_001394549.1:p.Ala1668=
NP_001394550.1:p.Ala1668=
NP_001394551.1:p.Ala1668=
NP_001394552.1:p.Ala1668=
NP_001394553.1:p.Ala1668=
NP_001394554.1:p.Ala1668=
NP_001394555.1:p.Ala1668=
NP_001394556.1:p.Ala1667=
NP_001394557.1:p.Ala1667=
NP_001394558.1:p.Ala1667=
NP_001394559.1:p.Ala1667=
NP_001394560.1:p.Ala1667=
NP_001394561.1:p.Ala1667=
NP_001394562.1:p.Ala1667=
NP_001394563.1:p.Ala1667=
NP_001394564.1:p.Ala1667=
NP_001394565.1:p.Ala1667=
NP_001394566.1:p.Ala1667=
NP_001394567.1:p.Ala1667=
NP_001394568.1:p.Ala1667=
NP_001394569.1:p.Ala1667=
NP_001394570.1:p.Ala1667=
NP_001394571.1:p.Ala1667=
NP_001394573.1:p.Ala1666=
NP_001394574.1:p.Ala1666=
NP_001394575.1:p.Ala1665=
NP_001394576.1:p.Ala1664=
NP_001394577.1:p.Ala1650=
NP_001394578.1:p.Ala1649=
NP_001394581.1:p.Ala1669=
NP_001394582.1:p.Ala1643=
NP_001394583.1:p.Ala1643=
NP_001394584.1:p.Ala1643=
NP_001394585.1:p.Ala1642=
NP_001394586.1:p.Ala1642=
NP_001394587.1:p.Ala1642=
NP_001394588.1:p.Ala1641=
NP_001394589.1:p.Ala1641=
NP_001394590.1:p.Ala1641=
NP_001394591.1:p.Ala1641=
NP_001394592.1:p.Ala1641=
NP_001394593.1:p.Ala1628=
NP_001394594.1:p.Ala1628=
NP_001394595.1:p.Ala1628=
NP_001394596.1:p.Ala1628=
NP_001394597.1:p.Ala1628=
NP_001394598.1:p.Ala1628=
NP_001394599.1:p.Ala1627=
NP_001394600.1:p.Ala1627=
NP_001394601.1:p.Ala1627=
NP_001394602.1:p.Ala1627=
NP_001394603.1:p.Ala1627=
NP_001394604.1:p.Ala1627=
NP_001394605.1:p.Ala1627=
NP_001394606.1:p.Ala1627=
NP_001394607.1:p.Ala1627=
NP_001394608.1:p.Ala1627=
NP_001394609.1:p.Ala1627=
NP_001394610.1:p.Ala1626=
NP_001394611.1:p.Ala1626=
NP_001394612.1:p.Ala1626=
NP_001394613.1:p.Ala1669=
NP_001394614.1:p.Ala1626=
NP_001394615.1:p.Ala1626=
NP_001394616.1:p.Ala1626=
NP_001394617.1:p.Ala1626=
NP_001394618.1:p.Ala1626=
NP_001394619.1:p.Ala1625=
NP_001394620.1:p.Ala1625=
NP_001394621.1:p.Ala1622=
NP_001394623.1:p.Ala1622=
NP_001394624.1:p.Ala1622=
NP_001394625.1:p.Ala1622=
NP_001394626.1:p.Ala1622=
NP_001394627.1:p.Ala1622=
NP_001394653.1:p.Ala1622=
NP_001394654.1:p.Ala1622=
NP_001394655.1:p.Ala1622=
NP_001394656.1:p.Ala1622=
NP_001394657.1:p.Ala1622=
NP_001394658.1:p.Ala1622=
NP_001394659.1:p.Ala1622=
NP_001394660.1:p.Ala1622=
NP_001394661.1:p.Ala1621=
NP_001394662.1:p.Ala1621=
NP_001394663.1:p.Ala1621=
NP_001394664.1:p.Ala1621=
NP_001394665.1:p.Ala1621=
NP_001394666.1:p.Ala1621=
NP_001394667.1:p.Ala1621=
NP_001394668.1:p.Ala1621=
NP_001394669.1:p.Ala1621=
NP_001394670.1:p.Ala1621=
NP_001394671.1:p.Ala1621=
NP_001394672.1:p.Ala1621=
NP_001394673.1:p.Ala1621=
NP_001394674.1:p.Ala1621=
NP_001394675.1:p.Ala1621=
NP_001394676.1:p.Ala1621=
NP_001394677.1:p.Ala1621=
NP_001394678.1:p.Ala1621=
NP_001394679.1:p.Ala1621=
NP_001394680.1:p.Ala1621=
NP_001394681.1:p.Ala1621=
NP_001394767.1:p.Ala1620=
NP_001394768.1:p.Ala1620=
NP_001394770.1:p.Ala1620=
NP_001394771.1:p.Ala1620=
NP_001394772.1:p.Ala1620=
NP_001394773.1:p.Ala1620=
NP_001394774.1:p.Ala1620=
NP_001394775.1:p.Ala1620=
NP_001394776.1:p.Ala1620=
NP_001394777.1:p.Ala1620=
NP_001394778.1:p.Ala1620=
NP_001394779.1:p.Ala1620=
NP_001394780.1:p.Ala1620=
NP_001394781.1:p.Ala1620=
NP_001394782.1:p.Ala1620=
NP_001394783.1:p.Ala1669=
NP_001394787.1:p.Ala1668=
NP_001394788.1:p.Ala1668=
NP_001394789.1:p.Ala1668=
NP_001394790.1:p.Ala1667=
NP_001394791.1:p.Ala1602=
NP_001394792.1:p.Ala1627=
NP_001394803.1:p.Ala1600=
NP_001394804.1:p.Ala1600=
NP_001394808.1:p.Ala1599=
NP_001394810.1:p.Ala1599=
NP_001394811.1:p.Ala1599=
NP_001394813.1:p.Ala1599=
NP_001394814.1:p.Ala1599=
NP_001394815.1:p.Ala1599=
NP_001394816.1:p.Ala1599=
NP_001394818.1:p.Ala1599=
NP_001394823.1:p.Ala1598=
NP_001394824.1:p.Ala1598=
NP_001394825.1:p.Ala1598=
NP_001394826.1:p.Ala1598=
NP_001394827.1:p.Ala1598=
NP_001394828.1:p.Ala1598=
NP_001394829.1:p.Ala1598=
NP_001394831.1:p.Ala1598=
NP_001394833.1:p.Ala1598=
NP_001394835.1:p.Ala1598=
NP_001394836.1:p.Ala1598=
NP_001394837.1:p.Ala1598=
NP_001394838.1:p.Ala1598=
NP_001394839.1:p.Ala1598=
NP_001394844.1:p.Ala1597=
NP_001394845.1:p.Ala1597=
NP_001394846.1:p.Ala1597=
NP_001394847.1:p.Ala1597=
NP_001394848.1:p.Ala1628=
NP_001394849.1:p.Ala1581=
NP_001394850.1:p.Ala1581=
NP_001394851.1:p.Ala1581=
NP_001394852.1:p.Ala1581=
NP_001394853.1:p.Ala1581=
NP_001394854.1:p.Ala1581=
NP_001394855.1:p.Ala1581=
NP_001394856.1:p.Ala1580=
NP_001394857.1:p.Ala1580=
NP_001394858.1:p.Ala1580=
NP_001394859.1:p.Ala1580=
NP_001394860.1:p.Ala1580=
NP_001394861.1:p.Ala1580=
NP_001394862.1:p.Ala1580=
NP_001394863.1:p.Ala1579=
NP_001394864.1:p.Ala1579=
NP_001394865.1:p.Ala1579=
NP_001394866.1:p.Ala1628=
NP_001394867.1:p.Ala1628=
NP_001394868.1:p.Ala1627=
NP_001394869.1:p.Ala1627=
NP_001394870.1:p.Ala1626=
NP_001394871.1:p.Ala1622=
NP_001394872.1:p.Ala1621=
NP_001394873.1:p.Ala1621=
NP_001394874.1:p.Ala1621=
NP_001394875.1:p.Ala1558=
NP_001394876.1:p.Ala1558=
NP_001394877.1:p.Ala1558=
NP_001394878.1:p.Ala1558=
NP_001394879.1:p.Ala1557=
NP_001394880.1:p.Ala1557=
NP_001394881.1:p.Ala1557=
NP_001394882.1:p.Ala1557=
NP_001394883.1:p.Ala1557=
NP_001394884.1:p.Ala1557=
NP_001394885.1:p.Ala1556=
NP_001394886.1:p.Ala1556=
NP_001394887.1:p.Ala1556=
NP_001394888.1:p.Ala1542=
NP_001394889.1:p.Ala1541=
NP_001394891.1:p.Ala1541=
NP_001394892.1:p.Ala1540=
NP_001394893.1:p.Ala1515=
NP_001394894.1:p.Ala1500=
NP_001394895.1:p.Ala1373=
NP_001394896.1:p.Ala1372=
NP_001394897.1:p.Ala801=
NP_001394898.1:p.Ala800=
NP_001394899.1:p.Ala588=
NP_001394900.1:p.Ala588=
NP_001394901.1:p.Ala587=
NP_001394902.1:p.Ala566=
NP_001394903.1:p.Ala566=
NP_001394904.1:p.Ala566=
NP_001394905.1:p.Ala566=
NP_001394906.1:p.Ala566=
NP_001394907.1:p.Ala566=
NP_001394908.1:p.Ala565=
NP_001394909.1:p.Ala565=
NP_001394910.1:p.Ala565=
NP_001394911.1:p.Ala565=
NP_001394912.1:p.Ala565=
NP_001394913.1:p.Ala565=
NP_001394914.1:p.Ala565=
NP_001394915.1:p.Ala565=
NP_001394919.1:p.Ala565=
NP_001394920.1:p.Ala565=
NP_001394921.1:p.Ala565=
NP_001394922.1:p.Ala565=
NP_001395321.1:p.Ala564=
NP_001395325.1:p.Ala564=
NP_001395326.1:p.Ala564=
NP_001395327.1:p.Ala564=
NP_001395328.1:p.Ala564=
NP_001395329.1:p.Ala564=
NP_001395330.1:p.Ala564=
NP_001395331.1:p.Ala564=
NP_001395332.1:p.Ala564=
NP_001395333.1:p.Ala564=
NP_001395335.1:p.Ala563=
NP_001395336.1:p.Ala563=
NP_001395337.1:p.Ala563=
NP_001395338.1:p.Ala562=
NP_001395339.1:p.Ala541=
NP_001395340.1:p.Ala540=
NP_001395341.1:p.Ala539=
NP_001395342.1:p.Ala539=
NP_001395343.1:p.Ala539=
NP_001395344.1:p.Ala539=
NP_001395345.1:p.Ala539=
NP_001395347.1:p.Ala527=
NP_001395348.1:p.Ala527=
NP_001395349.1:p.Ala527=
NP_001395350.1:p.Ala526=
NP_001395351.1:p.Ala526=
NP_001395352.1:p.Ala526=
NP_001395353.1:p.Ala526=
NP_001395354.1:p.Ala525=
NP_001395355.1:p.Ala525=
NP_001395356.1:p.Ala525=
NP_001395357.1:p.Ala525=
NP_001395358.1:p.Ala525=
NP_001395359.1:p.Ala525=
NP_001395360.1:p.Ala525=
NP_001395361.1:p.Ala524=
NP_001395362.1:p.Ala524=
NP_001395363.1:p.Ala524=
NP_001395364.1:p.Ala524=
NP_001395365.1:p.Ala524=
NP_001395366.1:p.Ala524=
NP_001395367.1:p.Ala524=
NP_001395368.1:p.Ala524=
NP_001395369.1:p.Ala524=
NP_001395370.1:p.Ala524=
NP_001395371.1:p.Ala524=
NP_001395372.1:p.Ala524=
NP_001395373.1:p.Ala524=
NP_001395374.1:p.Ala523=
NP_001395375.1:p.Ala523=
NP_001395376.1:p.Ala523=
NP_001395377.1:p.Ala523=
NP_001395379.1:p.Ala523=
NP_001395380.1:p.Ala521=
NP_001395381.1:p.Ala519=
NP_001395382.1:p.Ala519=
NP_001395383.1:p.Ala519=
NP_001395384.1:p.Ala519=
NP_001395385.1:p.Ala519=
NP_001395386.1:p.Ala519=
NP_001395387.1:p.Ala518=
NP_001395388.1:p.Ala518=
NP_001395389.1:p.Ala518=
NP_001395390.1:p.Ala518=
NP_001395391.1:p.Ala518=
NP_001395392.1:p.Ala518=
NP_001395393.1:p.Ala518=
NP_001395394.1:p.Ala518=
NP_001395395.1:p.Ala518=
NP_001395396.1:p.Ala518=
NP_001395397.1:p.Ala517=
NP_001395398.1:p.Ala517=
NP_001395399.1:p.Ala517=
NP_001395401.1:p.Ala565=
NP_001395402.1:p.Ala564=
NP_001395403.1:p.Ala499=
NP_001395404.1:p.Ala498=
NP_001395405.1:p.Ala498=
NP_001395407.1:p.Ala496=
NP_001395408.1:p.Ala496=
NP_001395409.1:p.Ala496=
NP_001395410.1:p.Ala495=
NP_001395411.1:p.Ala495=
NP_001395412.1:p.Ala495=
NP_001395413.1:p.Ala495=
NP_001395414.1:p.Ala495=
NP_001395418.1:p.Ala495=
NP_001395419.1:p.Ala495=
NP_001395420.1:p.Ala495=
NP_001395421.1:p.Ala494=
NP_001395422.1:p.Ala494=
NP_001395423.1:p.Ala486=
NP_001395424.1:p.Ala484=
NP_001395425.1:p.Ala478=
NP_001395426.1:p.Ala478=
NP_001395427.1:p.Ala478=
NP_001395428.1:p.Ala478=
NP_001395429.1:p.Ala478=
NP_001395430.1:p.Ala478=
NP_001395431.1:p.Ala477=
NP_001395432.1:p.Ala477=
NP_001395433.1:p.Ala477=
NP_001395434.1:p.Ala476=
NP_001395435.1:p.Ala457=
NP_001395436.1:p.Ala456=
NP_001395437.1:p.Ala453=
NP_001395438.1:p.Ala452=
NP_001395439.1:p.Ala439=
NP_001395440.1:p.Ala438=
NP_001395441.1:p.Ala398=
NP_001395442.1:p.Ala389=
NP_009225.1:p.Ala1669=
NP_009225.1:p.Ala1669=
NP_009228.2:p.Ala1622=
NP_009229.2:p.Ala565=
NP_009230.2:p.Ala565=
NP_009231.2:p.Ala1690=
NP_009235.2:p.Ala565=
LRG_292t1:c.5007C>T
LRG_292:g.150309C>T
LRG_292p1:p.Ala1669=
NC_000017.10:g.41219692G>A
NM_007294.3:c.5007C>T
NR_027676.2:n.5184C>T

Links:

dbSNP: rs751856943

NCBI 1000 Genomes Browser:

rs751856943

Molecular consequence:

NM_001408514.1:c.839-3724C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407581.1:c.5073C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407582.1:c.5073C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407583.1:c.5070C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407585.1:c.5070C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407587.1:c.5070C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407590.1:c.5067C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407591.1:c.5067C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407593.1:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407594.1:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407596.1:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407597.1:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407598.1:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407602.1:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407603.1:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407605.1:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407610.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407611.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407612.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407613.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407614.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407615.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407616.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407617.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407618.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407619.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407620.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407621.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407622.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407623.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407624.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407625.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407626.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407627.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407628.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407629.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407630.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407631.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407632.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407633.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407634.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407635.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407636.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407637.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407638.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407639.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407640.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407641.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407642.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407644.1:c.4998C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407645.1:c.4998C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407646.1:c.4995C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407647.1:c.4992C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407648.1:c.4950C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407649.1:c.4947C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407652.1:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407653.1:c.4929C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407654.1:c.4929C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407655.1:c.4929C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407656.1:c.4926C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407657.1:c.4926C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407658.1:c.4926C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407659.1:c.4923C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407660.1:c.4923C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407661.1:c.4923C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407662.1:c.4923C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407663.1:c.4923C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407664.1:c.4884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407665.1:c.4884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407666.1:c.4884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407667.1:c.4884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407668.1:c.4884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407669.1:c.4884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407670.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407671.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407672.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407673.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407674.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407675.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407676.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407677.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407678.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407679.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407680.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407681.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407682.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407683.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407684.1:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407685.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407686.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407687.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407688.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407689.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407690.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407691.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407692.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407694.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407695.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407696.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407697.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407698.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407724.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407725.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407726.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407727.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407728.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407729.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407730.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407731.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407732.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407733.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407734.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407735.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407736.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407737.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407738.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407739.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407740.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407741.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407742.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407743.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407744.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407745.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407746.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407747.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407748.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407749.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407750.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407751.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407752.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407838.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407839.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407841.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407842.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407843.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407844.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407845.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407846.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407847.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407848.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407849.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407850.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407851.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407852.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407853.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407854.1:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407858.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407859.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407860.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407861.1:c.5001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407862.1:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407863.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407874.1:c.4800C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407875.1:c.4800C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407879.1:c.4797C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407881.1:c.4797C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407882.1:c.4797C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407884.1:c.4797C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407885.1:c.4797C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407886.1:c.4797C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407887.1:c.4797C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407889.1:c.4797C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407894.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407895.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407896.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407897.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407898.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407899.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407900.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407902.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407904.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407906.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407907.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407908.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407909.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407910.1:c.4794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407915.1:c.4791C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407916.1:c.4791C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407917.1:c.4791C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407918.1:c.4791C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407919.1:c.4884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407920.1:c.4743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407921.1:c.4743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407922.1:c.4743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407923.1:c.4743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407924.1:c.4743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407925.1:c.4743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407926.1:c.4743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407927.1:c.4740C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407928.1:c.4740C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407929.1:c.4740C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407930.1:c.4740C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407931.1:c.4740C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407932.1:c.4740C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407933.1:c.4740C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407934.1:c.4737C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407935.1:c.4737C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407936.1:c.4737C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407937.1:c.4884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407938.1:c.4884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407939.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407940.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407941.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407942.1:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407943.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407944.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407945.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407946.1:c.4674C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407947.1:c.4674C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407948.1:c.4674C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407949.1:c.4674C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407950.1:c.4671C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407951.1:c.4671C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407952.1:c.4671C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407953.1:c.4671C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407954.1:c.4671C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407955.1:c.4671C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407956.1:c.4668C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407957.1:c.4668C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407958.1:c.4668C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407959.1:c.4626C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407960.1:c.4623C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407962.1:c.4623C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407963.1:c.4620C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407964.1:c.4545C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407965.1:c.4500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407966.1:c.4119C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407967.1:c.4116C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407968.1:c.2403C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407969.1:c.2400C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407970.1:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407971.1:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407972.1:c.1761C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407973.1:c.1698C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407974.1:c.1698C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407975.1:c.1698C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407976.1:c.1698C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407977.1:c.1698C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407978.1:c.1698C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407979.1:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407980.1:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407981.1:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407982.1:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407983.1:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407984.1:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407985.1:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407986.1:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407990.1:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407991.1:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407992.1:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407993.1:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408392.1:c.1692C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408396.1:c.1692C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408397.1:c.1692C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408398.1:c.1692C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408399.1:c.1692C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408400.1:c.1692C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408401.1:c.1692C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408402.1:c.1692C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408403.1:c.1692C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408404.1:c.1692C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408406.1:c.1689C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408407.1:c.1689C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408408.1:c.1689C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408409.1:c.1686C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408410.1:c.1623C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408411.1:c.1620C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408412.1:c.1617C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408413.1:c.1617C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408414.1:c.1617C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408415.1:c.1617C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408416.1:c.1617C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408418.1:c.1581C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408419.1:c.1581C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408420.1:c.1581C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408421.1:c.1578C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408422.1:c.1578C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408423.1:c.1578C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408424.1:c.1578C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408425.1:c.1575C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408426.1:c.1575C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408427.1:c.1575C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408428.1:c.1575C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408429.1:c.1575C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408430.1:c.1575C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408431.1:c.1575C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408432.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408433.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408434.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408435.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408436.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408437.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408438.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408439.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408440.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408441.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408442.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408443.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408444.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408445.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408446.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408447.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408448.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408450.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408451.1:c.1563C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408452.1:c.1557C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408453.1:c.1557C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408454.1:c.1557C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408455.1:c.1557C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408456.1:c.1557C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408457.1:c.1557C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408458.1:c.1554C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408459.1:c.1554C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408460.1:c.1554C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408461.1:c.1554C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408462.1:c.1554C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408463.1:c.1554C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408464.1:c.1554C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408465.1:c.1554C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408466.1:c.1554C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408467.1:c.1554C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408468.1:c.1551C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408469.1:c.1551C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408470.1:c.1551C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408472.1:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408473.1:c.1692C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408474.1:c.1497C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408475.1:c.1494C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408476.1:c.1494C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408478.1:c.1488C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408479.1:c.1488C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408480.1:c.1488C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408481.1:c.1485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408482.1:c.1485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408483.1:c.1485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408484.1:c.1485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408485.1:c.1485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408489.1:c.1485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408490.1:c.1485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408491.1:c.1485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408492.1:c.1482C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408493.1:c.1482C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408494.1:c.1458C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408495.1:c.1452C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408496.1:c.1434C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408497.1:c.1434C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408498.1:c.1434C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408499.1:c.1434C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408500.1:c.1434C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408501.1:c.1434C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408502.1:c.1431C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408503.1:c.1431C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408504.1:c.1431C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408505.1:c.1428C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408506.1:c.1371C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408507.1:c.1368C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408508.1:c.1359C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408509.1:c.1356C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408510.1:c.1317C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408511.1:c.1314C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408512.1:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408513.1:c.1167C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007294.4:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007297.4:c.4866C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007298.4:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007299.4:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007300.4:c.5070C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007304.2:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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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yu38b10.r1 Soares ovary tumor NbHOT Homo sapiens cDNA clone IMAGE:236059 5', mRN...
yu38b10.r1 Soares ovary tumor NbHOT Homo sapiens cDNA clone IMAGE:236059 5', mRNA sequence
gi|993849|gnl|dbEST|354928|gb|H5370

Nucleotide
yr54h04.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:209143 ...
yr54h04.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:209143 3', mRNA sequence
gi|1018335|gnl|dbEST|364984|gb|H635

Nucleotide
PREDICTED: Homo sapiens transmembrane protein 225B (TMEM225B), transcript varian...
PREDICTED: Homo sapiens transmembrane protein 225B (TMEM225B), transcript variant X11, mRNA
gi|2217365098|ref|XM_024446625.2|

Nucleotide
PMC Links for GEO Profiles (Select 132516731) (14)
PMC
PREDICTED: Homo sapiens transmembrane protein 225B (TMEM225B), transcript varian...
PREDICTED: Homo sapiens transmembrane protein 225B (TMEM225B), transcript variant X7, mRNA
gi|2217365087|ref|XM_011515697.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003345694	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 25, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 30209399, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003345694

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 25, 2023)

germline

clinical testing

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

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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV003345694.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change affects codon 1669 of the BRCA1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRCA1 protein. This variant is present in population databases (rs751856943, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 427317). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA1 function (PMID: 30209399). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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

Last Updated: Jul 15, 2024

ClinVar

Relating variation to medicine