NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Likely benign (5 submissions)
Last evaluated:: Jun 29, 2017
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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

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

Record status:: current
Accession:: RCV000495487.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)]

NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)

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.5022C>T (p.Ile1674=)

HGVS:

NC_000017.11:g.43067660G>A
NG_005905.2:g.150324C>T
NM_001407571.1:c.4809C>T
NM_001407581.1:c.5088C>T
NM_001407582.1:c.5088C>T
NM_001407583.1:c.5085C>T
NM_001407585.1:c.5085C>T
NM_001407587.1:c.5085C>T
NM_001407590.1:c.5082C>T
NM_001407591.1:c.5082C>T
NM_001407593.1:c.5022C>T
NM_001407594.1:c.5022C>T
NM_001407596.1:c.5022C>T
NM_001407597.1:c.5022C>T
NM_001407598.1:c.5022C>T
NM_001407602.1:c.5022C>T
NM_001407603.1:c.5022C>T
NM_001407605.1:c.5022C>T
NM_001407610.1:c.5019C>T
NM_001407611.1:c.5019C>T
NM_001407612.1:c.5019C>T
NM_001407613.1:c.5019C>T
NM_001407614.1:c.5019C>T
NM_001407615.1:c.5019C>T
NM_001407616.1:c.5019C>T
NM_001407617.1:c.5019C>T
NM_001407618.1:c.5019C>T
NM_001407619.1:c.5019C>T
NM_001407620.1:c.5019C>T
NM_001407621.1:c.5019C>T
NM_001407622.1:c.5019C>T
NM_001407623.1:c.5019C>T
NM_001407624.1:c.5019C>T
NM_001407625.1:c.5019C>T
NM_001407626.1:c.5019C>T
NM_001407627.1:c.5016C>T
NM_001407628.1:c.5016C>T
NM_001407629.1:c.5016C>T
NM_001407630.1:c.5016C>T
NM_001407631.1:c.5016C>T
NM_001407632.1:c.5016C>T
NM_001407633.1:c.5016C>T
NM_001407634.1:c.5016C>T
NM_001407635.1:c.5016C>T
NM_001407636.1:c.5016C>T
NM_001407637.1:c.5016C>T
NM_001407638.1:c.5016C>T
NM_001407639.1:c.5016C>T
NM_001407640.1:c.5016C>T
NM_001407641.1:c.5016C>T
NM_001407642.1:c.5016C>T
NM_001407644.1:c.5013C>T
NM_001407645.1:c.5013C>T
NM_001407646.1:c.5010C>T
NM_001407647.1:c.5007C>T
NM_001407648.1:c.4965C>T
NM_001407649.1:c.4962C>T
NM_001407652.1:c.5022C>T
NM_001407653.1:c.4944C>T
NM_001407654.1:c.4944C>T
NM_001407655.1:c.4944C>T
NM_001407656.1:c.4941C>T
NM_001407657.1:c.4941C>T
NM_001407658.1:c.4941C>T
NM_001407659.1:c.4938C>T
NM_001407660.1:c.4938C>T
NM_001407661.1:c.4938C>T
NM_001407662.1:c.4938C>T
NM_001407663.1:c.4938C>T
NM_001407664.1:c.4899C>T
NM_001407665.1:c.4899C>T
NM_001407666.1:c.4899C>T
NM_001407667.1:c.4899C>T
NM_001407668.1:c.4899C>T
NM_001407669.1:c.4899C>T
NM_001407670.1:c.4896C>T
NM_001407671.1:c.4896C>T
NM_001407672.1:c.4896C>T
NM_001407673.1:c.4896C>T
NM_001407674.1:c.4896C>T
NM_001407675.1:c.4896C>T
NM_001407676.1:c.4896C>T
NM_001407677.1:c.4896C>T
NM_001407678.1:c.4896C>T
NM_001407679.1:c.4896C>T
NM_001407680.1:c.4896C>T
NM_001407681.1:c.4893C>T
NM_001407682.1:c.4893C>T
NM_001407683.1:c.4893C>T
NM_001407684.1:c.5022C>T
NM_001407685.1:c.4893C>T
NM_001407686.1:c.4893C>T
NM_001407687.1:c.4893C>T
NM_001407688.1:c.4893C>T
NM_001407689.1:c.4893C>T
NM_001407690.1:c.4890C>T
NM_001407691.1:c.4890C>T
NM_001407692.1:c.4881C>T
NM_001407694.1:c.4881C>T
NM_001407695.1:c.4881C>T
NM_001407696.1:c.4881C>T
NM_001407697.1:c.4881C>T
NM_001407698.1:c.4881C>T
NM_001407724.1:c.4881C>T
NM_001407725.1:c.4881C>T
NM_001407726.1:c.4881C>T
NM_001407727.1:c.4881C>T
NM_001407728.1:c.4881C>T
NM_001407729.1:c.4881C>T
NM_001407730.1:c.4881C>T
NM_001407731.1:c.4881C>T
NM_001407732.1:c.4878C>T
NM_001407733.1:c.4878C>T
NM_001407734.1:c.4878C>T
NM_001407735.1:c.4878C>T
NM_001407736.1:c.4878C>T
NM_001407737.1:c.4878C>T
NM_001407738.1:c.4878C>T
NM_001407739.1:c.4878C>T
NM_001407740.1:c.4878C>T
NM_001407741.1:c.4878C>T
NM_001407742.1:c.4878C>T
NM_001407743.1:c.4878C>T
NM_001407744.1:c.4878C>T
NM_001407745.1:c.4878C>T
NM_001407746.1:c.4878C>T
NM_001407747.1:c.4878C>T
NM_001407748.1:c.4878C>T
NM_001407749.1:c.4878C>T
NM_001407750.1:c.4878C>T
NM_001407751.1:c.4878C>T
NM_001407752.1:c.4878C>T
NM_001407838.1:c.4875C>T
NM_001407839.1:c.4875C>T
NM_001407841.1:c.4875C>T
NM_001407842.1:c.4875C>T
NM_001407843.1:c.4875C>T
NM_001407844.1:c.4875C>T
NM_001407845.1:c.4875C>T
NM_001407846.1:c.4875C>T
NM_001407847.1:c.4875C>T
NM_001407848.1:c.4875C>T
NM_001407849.1:c.4875C>T
NM_001407850.1:c.4875C>T
NM_001407851.1:c.4875C>T
NM_001407852.1:c.4875C>T
NM_001407853.1:c.4875C>T
NM_001407854.1:c.5022C>T
NM_001407858.1:c.5019C>T
NM_001407859.1:c.5019C>T
NM_001407860.1:c.5019C>T
NM_001407861.1:c.5016C>T
NM_001407862.1:c.4821C>T
NM_001407863.1:c.4896C>T
NM_001407874.1:c.4815C>T
NM_001407875.1:c.4815C>T
NM_001407879.1:c.4812C>T
NM_001407881.1:c.4812C>T
NM_001407882.1:c.4812C>T
NM_001407884.1:c.4812C>T
NM_001407885.1:c.4812C>T
NM_001407886.1:c.4812C>T
NM_001407887.1:c.4812C>T
NM_001407889.1:c.4812C>T
NM_001407894.1:c.4809C>T
NM_001407895.1:c.4809C>T
NM_001407896.1:c.4809C>T
NM_001407897.1:c.4809C>T
NM_001407898.1:c.4809C>T
NM_001407899.1:c.4809C>T
NM_001407900.1:c.4809C>T
NM_001407902.1:c.4809C>T
NM_001407904.1:c.4809C>T
NM_001407906.1:c.4809C>T
NM_001407907.1:c.4809C>T
NM_001407908.1:c.4809C>T
NM_001407909.1:c.4809C>T
NM_001407910.1:c.4809C>T
NM_001407915.1:c.4806C>T
NM_001407916.1:c.4806C>T
NM_001407917.1:c.4806C>T
NM_001407918.1:c.4806C>T
NM_001407919.1:c.4899C>T
NM_001407920.1:c.4758C>T
NM_001407921.1:c.4758C>T
NM_001407922.1:c.4758C>T
NM_001407923.1:c.4758C>T
NM_001407924.1:c.4758C>T
NM_001407925.1:c.4758C>T
NM_001407926.1:c.4758C>T
NM_001407927.1:c.4755C>T
NM_001407928.1:c.4755C>T
NM_001407929.1:c.4755C>T
NM_001407930.1:c.4755C>T
NM_001407931.1:c.4755C>T
NM_001407932.1:c.4755C>T
NM_001407933.1:c.4755C>T
NM_001407934.1:c.4752C>T
NM_001407935.1:c.4752C>T
NM_001407936.1:c.4752C>T
NM_001407937.1:c.4899C>T
NM_001407938.1:c.4899C>T
NM_001407939.1:c.4896C>T
NM_001407940.1:c.4896C>T
NM_001407941.1:c.4893C>T
NM_001407942.1:c.4881C>T
NM_001407943.1:c.4878C>T
NM_001407944.1:c.4878C>T
NM_001407945.1:c.4878C>T
NM_001407946.1:c.4689C>T
NM_001407947.1:c.4689C>T
NM_001407948.1:c.4689C>T
NM_001407949.1:c.4689C>T
NM_001407950.1:c.4686C>T
NM_001407951.1:c.4686C>T
NM_001407952.1:c.4686C>T
NM_001407953.1:c.4686C>T
NM_001407954.1:c.4686C>T
NM_001407955.1:c.4686C>T
NM_001407956.1:c.4683C>T
NM_001407957.1:c.4683C>T
NM_001407958.1:c.4683C>T
NM_001407959.1:c.4641C>T
NM_001407960.1:c.4638C>T
NM_001407962.1:c.4638C>T
NM_001407963.1:c.4635C>T
NM_001407964.1:c.4560C>T
NM_001407965.1:c.4515C>T
NM_001407966.1:c.4134C>T
NM_001407967.1:c.4131C>T
NM_001407968.1:c.2418C>T
NM_001407969.1:c.2415C>T
NM_001407970.1:c.1779C>T
NM_001407971.1:c.1779C>T
NM_001407972.1:c.1776C>T
NM_001407973.1:c.1713C>T
NM_001407974.1:c.1713C>T
NM_001407975.1:c.1713C>T
NM_001407976.1:c.1713C>T
NM_001407977.1:c.1713C>T
NM_001407978.1:c.1713C>T
NM_001407979.1:c.1710C>T
NM_001407980.1:c.1710C>T
NM_001407981.1:c.1710C>T
NM_001407982.1:c.1710C>T
NM_001407983.1:c.1710C>T
NM_001407984.1:c.1710C>T
NM_001407985.1:c.1710C>T
NM_001407986.1:c.1710C>T
NM_001407990.1:c.1710C>T
NM_001407991.1:c.1710C>T
NM_001407992.1:c.1710C>T
NM_001407993.1:c.1710C>T
NM_001408392.1:c.1707C>T
NM_001408396.1:c.1707C>T
NM_001408397.1:c.1707C>T
NM_001408398.1:c.1707C>T
NM_001408399.1:c.1707C>T
NM_001408400.1:c.1707C>T
NM_001408401.1:c.1707C>T
NM_001408402.1:c.1707C>T
NM_001408403.1:c.1707C>T
NM_001408404.1:c.1707C>T
NM_001408406.1:c.1704C>T
NM_001408407.1:c.1704C>T
NM_001408408.1:c.1704C>T
NM_001408409.1:c.1701C>T
NM_001408410.1:c.1638C>T
NM_001408411.1:c.1635C>T
NM_001408412.1:c.1632C>T
NM_001408413.1:c.1632C>T
NM_001408414.1:c.1632C>T
NM_001408415.1:c.1632C>T
NM_001408416.1:c.1632C>T
NM_001408418.1:c.1596C>T
NM_001408419.1:c.1596C>T
NM_001408420.1:c.1596C>T
NM_001408421.1:c.1593C>T
NM_001408422.1:c.1593C>T
NM_001408423.1:c.1593C>T
NM_001408424.1:c.1593C>T
NM_001408425.1:c.1590C>T
NM_001408426.1:c.1590C>T
NM_001408427.1:c.1590C>T
NM_001408428.1:c.1590C>T
NM_001408429.1:c.1590C>T
NM_001408430.1:c.1590C>T
NM_001408431.1:c.1590C>T
NM_001408432.1:c.1587C>T
NM_001408433.1:c.1587C>T
NM_001408434.1:c.1587C>T
NM_001408435.1:c.1587C>T
NM_001408436.1:c.1587C>T
NM_001408437.1:c.1587C>T
NM_001408438.1:c.1587C>T
NM_001408439.1:c.1587C>T
NM_001408440.1:c.1587C>T
NM_001408441.1:c.1587C>T
NM_001408442.1:c.1587C>T
NM_001408443.1:c.1587C>T
NM_001408444.1:c.1587C>T
NM_001408445.1:c.1584C>T
NM_001408446.1:c.1584C>T
NM_001408447.1:c.1584C>T
NM_001408448.1:c.1584C>T
NM_001408450.1:c.1584C>T
NM_001408451.1:c.1578C>T
NM_001408452.1:c.1572C>T
NM_001408453.1:c.1572C>T
NM_001408454.1:c.1572C>T
NM_001408455.1:c.1572C>T
NM_001408456.1:c.1572C>T
NM_001408457.1:c.1572C>T
NM_001408458.1:c.1569C>T
NM_001408459.1:c.1569C>T
NM_001408460.1:c.1569C>T
NM_001408461.1:c.1569C>T
NM_001408462.1:c.1569C>T
NM_001408463.1:c.1569C>T
NM_001408464.1:c.1569C>T
NM_001408465.1:c.1569C>T
NM_001408466.1:c.1569C>T
NM_001408467.1:c.1569C>T
NM_001408468.1:c.1566C>T
NM_001408469.1:c.1566C>T
NM_001408470.1:c.1566C>T
NM_001408472.1:c.1710C>T
NM_001408473.1:c.1707C>T
NM_001408474.1:c.1512C>T
NM_001408475.1:c.1509C>T
NM_001408476.1:c.1509C>T
NM_001408478.1:c.1503C>T
NM_001408479.1:c.1503C>T
NM_001408480.1:c.1503C>T
NM_001408481.1:c.1500C>T
NM_001408482.1:c.1500C>T
NM_001408483.1:c.1500C>T
NM_001408484.1:c.1500C>T
NM_001408485.1:c.1500C>T
NM_001408489.1:c.1500C>T
NM_001408490.1:c.1500C>T
NM_001408491.1:c.1500C>T
NM_001408492.1:c.1497C>T
NM_001408493.1:c.1497C>T
NM_001408494.1:c.1473C>T
NM_001408495.1:c.1467C>T
NM_001408496.1:c.1449C>T
NM_001408497.1:c.1449C>T
NM_001408498.1:c.1449C>T
NM_001408499.1:c.1449C>T
NM_001408500.1:c.1449C>T
NM_001408501.1:c.1449C>T
NM_001408502.1:c.1446C>T
NM_001408503.1:c.1446C>T
NM_001408504.1:c.1446C>T
NM_001408505.1:c.1443C>T
NM_001408506.1:c.1386C>T
NM_001408507.1:c.1383C>T
NM_001408508.1:c.1374C>T
NM_001408509.1:c.1371C>T
NM_001408510.1:c.1332C>T
NM_001408511.1:c.1329C>T
NM_001408512.1:c.1209C>T
NM_001408513.1:c.1182C>T
NM_001408514.1:c.839-3709C>T
NM_007294.4:c.5022C>TMANE SELECT
NM_007297.4:c.4881C>T
NM_007298.4:c.1710C>T
NM_007299.4:c.1710C>T
NM_007300.3:c.5085C>T
NM_007300.4:c.5085C>T
NM_007304.2:c.1710C>T
NP_001394500.1:p.Ile1603=
NP_001394510.1:p.Ile1696=
NP_001394511.1:p.Ile1696=
NP_001394512.1:p.Ile1695=
NP_001394514.1:p.Ile1695=
NP_001394516.1:p.Ile1695=
NP_001394519.1:p.Ile1694=
NP_001394520.1:p.Ile1694=
NP_001394522.1:p.Ile1674=
NP_001394523.1:p.Ile1674=
NP_001394525.1:p.Ile1674=
NP_001394526.1:p.Ile1674=
NP_001394527.1:p.Ile1674=
NP_001394531.1:p.Ile1674=
NP_001394532.1:p.Ile1674=
NP_001394534.1:p.Ile1674=
NP_001394539.1:p.Ile1673=
NP_001394540.1:p.Ile1673=
NP_001394541.1:p.Ile1673=
NP_001394542.1:p.Ile1673=
NP_001394543.1:p.Ile1673=
NP_001394544.1:p.Ile1673=
NP_001394545.1:p.Ile1673=
NP_001394546.1:p.Ile1673=
NP_001394547.1:p.Ile1673=
NP_001394548.1:p.Ile1673=
NP_001394549.1:p.Ile1673=
NP_001394550.1:p.Ile1673=
NP_001394551.1:p.Ile1673=
NP_001394552.1:p.Ile1673=
NP_001394553.1:p.Ile1673=
NP_001394554.1:p.Ile1673=
NP_001394555.1:p.Ile1673=
NP_001394556.1:p.Ile1672=
NP_001394557.1:p.Ile1672=
NP_001394558.1:p.Ile1672=
NP_001394559.1:p.Ile1672=
NP_001394560.1:p.Ile1672=
NP_001394561.1:p.Ile1672=
NP_001394562.1:p.Ile1672=
NP_001394563.1:p.Ile1672=
NP_001394564.1:p.Ile1672=
NP_001394565.1:p.Ile1672=
NP_001394566.1:p.Ile1672=
NP_001394567.1:p.Ile1672=
NP_001394568.1:p.Ile1672=
NP_001394569.1:p.Ile1672=
NP_001394570.1:p.Ile1672=
NP_001394571.1:p.Ile1672=
NP_001394573.1:p.Ile1671=
NP_001394574.1:p.Ile1671=
NP_001394575.1:p.Ile1670=
NP_001394576.1:p.Ile1669=
NP_001394577.1:p.Ile1655=
NP_001394578.1:p.Ile1654=
NP_001394581.1:p.Ile1674=
NP_001394582.1:p.Ile1648=
NP_001394583.1:p.Ile1648=
NP_001394584.1:p.Ile1648=
NP_001394585.1:p.Ile1647=
NP_001394586.1:p.Ile1647=
NP_001394587.1:p.Ile1647=
NP_001394588.1:p.Ile1646=
NP_001394589.1:p.Ile1646=
NP_001394590.1:p.Ile1646=
NP_001394591.1:p.Ile1646=
NP_001394592.1:p.Ile1646=
NP_001394593.1:p.Ile1633=
NP_001394594.1:p.Ile1633=
NP_001394595.1:p.Ile1633=
NP_001394596.1:p.Ile1633=
NP_001394597.1:p.Ile1633=
NP_001394598.1:p.Ile1633=
NP_001394599.1:p.Ile1632=
NP_001394600.1:p.Ile1632=
NP_001394601.1:p.Ile1632=
NP_001394602.1:p.Ile1632=
NP_001394603.1:p.Ile1632=
NP_001394604.1:p.Ile1632=
NP_001394605.1:p.Ile1632=
NP_001394606.1:p.Ile1632=
NP_001394607.1:p.Ile1632=
NP_001394608.1:p.Ile1632=
NP_001394609.1:p.Ile1632=
NP_001394610.1:p.Ile1631=
NP_001394611.1:p.Ile1631=
NP_001394612.1:p.Ile1631=
NP_001394613.1:p.Ile1674=
NP_001394614.1:p.Ile1631=
NP_001394615.1:p.Ile1631=
NP_001394616.1:p.Ile1631=
NP_001394617.1:p.Ile1631=
NP_001394618.1:p.Ile1631=
NP_001394619.1:p.Ile1630=
NP_001394620.1:p.Ile1630=
NP_001394621.1:p.Ile1627=
NP_001394623.1:p.Ile1627=
NP_001394624.1:p.Ile1627=
NP_001394625.1:p.Ile1627=
NP_001394626.1:p.Ile1627=
NP_001394627.1:p.Ile1627=
NP_001394653.1:p.Ile1627=
NP_001394654.1:p.Ile1627=
NP_001394655.1:p.Ile1627=
NP_001394656.1:p.Ile1627=
NP_001394657.1:p.Ile1627=
NP_001394658.1:p.Ile1627=
NP_001394659.1:p.Ile1627=
NP_001394660.1:p.Ile1627=
NP_001394661.1:p.Ile1626=
NP_001394662.1:p.Ile1626=
NP_001394663.1:p.Ile1626=
NP_001394664.1:p.Ile1626=
NP_001394665.1:p.Ile1626=
NP_001394666.1:p.Ile1626=
NP_001394667.1:p.Ile1626=
NP_001394668.1:p.Ile1626=
NP_001394669.1:p.Ile1626=
NP_001394670.1:p.Ile1626=
NP_001394671.1:p.Ile1626=
NP_001394672.1:p.Ile1626=
NP_001394673.1:p.Ile1626=
NP_001394674.1:p.Ile1626=
NP_001394675.1:p.Ile1626=
NP_001394676.1:p.Ile1626=
NP_001394677.1:p.Ile1626=
NP_001394678.1:p.Ile1626=
NP_001394679.1:p.Ile1626=
NP_001394680.1:p.Ile1626=
NP_001394681.1:p.Ile1626=
NP_001394767.1:p.Ile1625=
NP_001394768.1:p.Ile1625=
NP_001394770.1:p.Ile1625=
NP_001394771.1:p.Ile1625=
NP_001394772.1:p.Ile1625=
NP_001394773.1:p.Ile1625=
NP_001394774.1:p.Ile1625=
NP_001394775.1:p.Ile1625=
NP_001394776.1:p.Ile1625=
NP_001394777.1:p.Ile1625=
NP_001394778.1:p.Ile1625=
NP_001394779.1:p.Ile1625=
NP_001394780.1:p.Ile1625=
NP_001394781.1:p.Ile1625=
NP_001394782.1:p.Ile1625=
NP_001394783.1:p.Ile1674=
NP_001394787.1:p.Ile1673=
NP_001394788.1:p.Ile1673=
NP_001394789.1:p.Ile1673=
NP_001394790.1:p.Ile1672=
NP_001394791.1:p.Ile1607=
NP_001394792.1:p.Ile1632=
NP_001394803.1:p.Ile1605=
NP_001394804.1:p.Ile1605=
NP_001394808.1:p.Ile1604=
NP_001394810.1:p.Ile1604=
NP_001394811.1:p.Ile1604=
NP_001394813.1:p.Ile1604=
NP_001394814.1:p.Ile1604=
NP_001394815.1:p.Ile1604=
NP_001394816.1:p.Ile1604=
NP_001394818.1:p.Ile1604=
NP_001394823.1:p.Ile1603=
NP_001394824.1:p.Ile1603=
NP_001394825.1:p.Ile1603=
NP_001394826.1:p.Ile1603=
NP_001394827.1:p.Ile1603=
NP_001394828.1:p.Ile1603=
NP_001394829.1:p.Ile1603=
NP_001394831.1:p.Ile1603=
NP_001394833.1:p.Ile1603=
NP_001394835.1:p.Ile1603=
NP_001394836.1:p.Ile1603=
NP_001394837.1:p.Ile1603=
NP_001394838.1:p.Ile1603=
NP_001394839.1:p.Ile1603=
NP_001394844.1:p.Ile1602=
NP_001394845.1:p.Ile1602=
NP_001394846.1:p.Ile1602=
NP_001394847.1:p.Ile1602=
NP_001394848.1:p.Ile1633=
NP_001394849.1:p.Ile1586=
NP_001394850.1:p.Ile1586=
NP_001394851.1:p.Ile1586=
NP_001394852.1:p.Ile1586=
NP_001394853.1:p.Ile1586=
NP_001394854.1:p.Ile1586=
NP_001394855.1:p.Ile1586=
NP_001394856.1:p.Ile1585=
NP_001394857.1:p.Ile1585=
NP_001394858.1:p.Ile1585=
NP_001394859.1:p.Ile1585=
NP_001394860.1:p.Ile1585=
NP_001394861.1:p.Ile1585=
NP_001394862.1:p.Ile1585=
NP_001394863.1:p.Ile1584=
NP_001394864.1:p.Ile1584=
NP_001394865.1:p.Ile1584=
NP_001394866.1:p.Ile1633=
NP_001394867.1:p.Ile1633=
NP_001394868.1:p.Ile1632=
NP_001394869.1:p.Ile1632=
NP_001394870.1:p.Ile1631=
NP_001394871.1:p.Ile1627=
NP_001394872.1:p.Ile1626=
NP_001394873.1:p.Ile1626=
NP_001394874.1:p.Ile1626=
NP_001394875.1:p.Ile1563=
NP_001394876.1:p.Ile1563=
NP_001394877.1:p.Ile1563=
NP_001394878.1:p.Ile1563=
NP_001394879.1:p.Ile1562=
NP_001394880.1:p.Ile1562=
NP_001394881.1:p.Ile1562=
NP_001394882.1:p.Ile1562=
NP_001394883.1:p.Ile1562=
NP_001394884.1:p.Ile1562=
NP_001394885.1:p.Ile1561=
NP_001394886.1:p.Ile1561=
NP_001394887.1:p.Ile1561=
NP_001394888.1:p.Ile1547=
NP_001394889.1:p.Ile1546=
NP_001394891.1:p.Ile1546=
NP_001394892.1:p.Ile1545=
NP_001394893.1:p.Ile1520=
NP_001394894.1:p.Ile1505=
NP_001394895.1:p.Ile1378=
NP_001394896.1:p.Ile1377=
NP_001394897.1:p.Ile806=
NP_001394898.1:p.Ile805=
NP_001394899.1:p.Ile593=
NP_001394900.1:p.Ile593=
NP_001394901.1:p.Ile592=
NP_001394902.1:p.Ile571=
NP_001394903.1:p.Ile571=
NP_001394904.1:p.Ile571=
NP_001394905.1:p.Ile571=
NP_001394906.1:p.Ile571=
NP_001394907.1:p.Ile571=
NP_001394908.1:p.Ile570=
NP_001394909.1:p.Ile570=
NP_001394910.1:p.Ile570=
NP_001394911.1:p.Ile570=
NP_001394912.1:p.Ile570=
NP_001394913.1:p.Ile570=
NP_001394914.1:p.Ile570=
NP_001394915.1:p.Ile570=
NP_001394919.1:p.Ile570=
NP_001394920.1:p.Ile570=
NP_001394921.1:p.Ile570=
NP_001394922.1:p.Ile570=
NP_001395321.1:p.Ile569=
NP_001395325.1:p.Ile569=
NP_001395326.1:p.Ile569=
NP_001395327.1:p.Ile569=
NP_001395328.1:p.Ile569=
NP_001395329.1:p.Ile569=
NP_001395330.1:p.Ile569=
NP_001395331.1:p.Ile569=
NP_001395332.1:p.Ile569=
NP_001395333.1:p.Ile569=
NP_001395335.1:p.Ile568=
NP_001395336.1:p.Ile568=
NP_001395337.1:p.Ile568=
NP_001395338.1:p.Ile567=
NP_001395339.1:p.Ile546=
NP_001395340.1:p.Ile545=
NP_001395341.1:p.Ile544=
NP_001395342.1:p.Ile544=
NP_001395343.1:p.Ile544=
NP_001395344.1:p.Ile544=
NP_001395345.1:p.Ile544=
NP_001395347.1:p.Ile532=
NP_001395348.1:p.Ile532=
NP_001395349.1:p.Ile532=
NP_001395350.1:p.Ile531=
NP_001395351.1:p.Ile531=
NP_001395352.1:p.Ile531=
NP_001395353.1:p.Ile531=
NP_001395354.1:p.Ile530=
NP_001395355.1:p.Ile530=
NP_001395356.1:p.Ile530=
NP_001395357.1:p.Ile530=
NP_001395358.1:p.Ile530=
NP_001395359.1:p.Ile530=
NP_001395360.1:p.Ile530=
NP_001395361.1:p.Ile529=
NP_001395362.1:p.Ile529=
NP_001395363.1:p.Ile529=
NP_001395364.1:p.Ile529=
NP_001395365.1:p.Ile529=
NP_001395366.1:p.Ile529=
NP_001395367.1:p.Ile529=
NP_001395368.1:p.Ile529=
NP_001395369.1:p.Ile529=
NP_001395370.1:p.Ile529=
NP_001395371.1:p.Ile529=
NP_001395372.1:p.Ile529=
NP_001395373.1:p.Ile529=
NP_001395374.1:p.Ile528=
NP_001395375.1:p.Ile528=
NP_001395376.1:p.Ile528=
NP_001395377.1:p.Ile528=
NP_001395379.1:p.Ile528=
NP_001395380.1:p.Ile526=
NP_001395381.1:p.Ile524=
NP_001395382.1:p.Ile524=
NP_001395383.1:p.Ile524=
NP_001395384.1:p.Ile524=
NP_001395385.1:p.Ile524=
NP_001395386.1:p.Ile524=
NP_001395387.1:p.Ile523=
NP_001395388.1:p.Ile523=
NP_001395389.1:p.Ile523=
NP_001395390.1:p.Ile523=
NP_001395391.1:p.Ile523=
NP_001395392.1:p.Ile523=
NP_001395393.1:p.Ile523=
NP_001395394.1:p.Ile523=
NP_001395395.1:p.Ile523=
NP_001395396.1:p.Ile523=
NP_001395397.1:p.Ile522=
NP_001395398.1:p.Ile522=
NP_001395399.1:p.Ile522=
NP_001395401.1:p.Ile570=
NP_001395402.1:p.Ile569=
NP_001395403.1:p.Ile504=
NP_001395404.1:p.Ile503=
NP_001395405.1:p.Ile503=
NP_001395407.1:p.Ile501=
NP_001395408.1:p.Ile501=
NP_001395409.1:p.Ile501=
NP_001395410.1:p.Ile500=
NP_001395411.1:p.Ile500=
NP_001395412.1:p.Ile500=
NP_001395413.1:p.Ile500=
NP_001395414.1:p.Ile500=
NP_001395418.1:p.Ile500=
NP_001395419.1:p.Ile500=
NP_001395420.1:p.Ile500=
NP_001395421.1:p.Ile499=
NP_001395422.1:p.Ile499=
NP_001395423.1:p.Ile491=
NP_001395424.1:p.Ile489=
NP_001395425.1:p.Ile483=
NP_001395426.1:p.Ile483=
NP_001395427.1:p.Ile483=
NP_001395428.1:p.Ile483=
NP_001395429.1:p.Ile483=
NP_001395430.1:p.Ile483=
NP_001395431.1:p.Ile482=
NP_001395432.1:p.Ile482=
NP_001395433.1:p.Ile482=
NP_001395434.1:p.Ile481=
NP_001395435.1:p.Ile462=
NP_001395436.1:p.Ile461=
NP_001395437.1:p.Ile458=
NP_001395438.1:p.Ile457=
NP_001395439.1:p.Ile444=
NP_001395440.1:p.Ile443=
NP_001395441.1:p.Ile403=
NP_001395442.1:p.Ile394=
NP_009225.1:p.Ile1674=
NP_009225.1:p.Ile1674=
NP_009228.2:p.Ile1627=
NP_009229.2:p.Ile570=
NP_009230.2:p.Ile570=
NP_009231.2:p.Ile1695=
NP_009235.2:p.Ile570=
LRG_292t1:c.5022C>T
LRG_292:g.150324C>T
LRG_292p1:p.Ile1674=
NC_000017.10:g.41219677G>A
NM_007294.3:c.5022C>T
NM_007294.4:c.5022C>T
NR_027676.2:n.5199C>T
p.I1674I
p.Ile1674Ile

Links:

dbSNP: rs786203868

NCBI 1000 Genomes Browser:

rs786203868

Molecular consequence:

NM_001408514.1:c.839-3709C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407581.1:c.5088C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407582.1:c.5088C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407583.1:c.5085C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407585.1:c.5085C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407587.1:c.5085C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407590.1:c.5082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407591.1:c.5082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407593.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407594.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407596.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407597.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407598.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407602.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407603.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407605.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407610.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407611.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407612.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407613.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407614.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407615.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407616.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407617.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407618.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407619.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407620.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407621.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407622.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407623.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407624.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407625.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407626.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407627.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407628.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407629.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407630.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407631.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407632.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407633.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407634.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407635.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407636.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407637.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407638.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407639.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407640.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407641.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407642.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407644.1:c.5013C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407645.1:c.5013C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407646.1:c.5010C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407647.1:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407648.1:c.4965C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407649.1:c.4962C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407652.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407653.1:c.4944C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407654.1:c.4944C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407655.1:c.4944C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407656.1:c.4941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407657.1:c.4941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407658.1:c.4941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407659.1:c.4938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407660.1:c.4938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407661.1:c.4938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407662.1:c.4938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407663.1:c.4938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407664.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407665.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407666.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407667.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407668.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407669.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407670.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407671.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407672.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407673.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407674.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407675.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407676.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407677.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407678.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407679.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407680.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407681.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407682.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407683.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407684.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407685.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407686.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407687.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407688.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407689.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407690.1:c.4890C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407691.1:c.4890C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407692.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407694.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407695.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407696.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407697.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407698.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407724.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407725.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407726.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407727.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407728.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407729.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407730.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407731.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407732.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407733.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407734.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407735.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407736.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407737.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407738.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407739.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407740.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407741.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407742.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407743.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407744.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407745.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407746.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407747.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407748.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407749.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407750.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407751.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407752.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407838.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407839.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407841.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407842.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407843.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407844.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407845.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407846.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407847.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407848.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407849.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407850.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407851.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407852.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407853.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407854.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407858.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407859.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407860.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407861.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407862.1:c.4821C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407863.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407874.1:c.4815C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407875.1:c.4815C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407879.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407881.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407882.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407884.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407885.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407886.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407887.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407889.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407894.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407895.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407896.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407897.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407898.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407899.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407900.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407902.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407904.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407906.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407907.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407908.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407909.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407910.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407915.1:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407916.1:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407917.1:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407918.1:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407919.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407920.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407921.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407922.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407923.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407924.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407925.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407926.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407927.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407928.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407929.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407930.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407931.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407932.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407933.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407934.1:c.4752C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407935.1:c.4752C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407936.1:c.4752C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407937.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407938.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407939.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407940.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407941.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407942.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407943.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407944.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407945.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407946.1:c.4689C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407947.1:c.4689C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407948.1:c.4689C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407949.1:c.4689C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407950.1:c.4686C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407951.1:c.4686C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407952.1:c.4686C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407953.1:c.4686C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407954.1:c.4686C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407955.1:c.4686C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407956.1:c.4683C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407957.1:c.4683C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407958.1:c.4683C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407959.1:c.4641C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407960.1:c.4638C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407962.1:c.4638C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407963.1:c.4635C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407964.1:c.4560C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407965.1:c.4515C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407966.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407967.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407968.1:c.2418C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407969.1:c.2415C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407970.1:c.1779C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407971.1:c.1779C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407972.1:c.1776C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407973.1:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407974.1:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407975.1:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407976.1:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407977.1:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407978.1:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407979.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407980.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407981.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407982.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407983.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407984.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407985.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407986.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407990.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407991.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407992.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407993.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408392.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408396.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408397.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408398.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408399.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408400.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408401.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408402.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408403.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408404.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408406.1:c.1704C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408407.1:c.1704C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408408.1:c.1704C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408409.1:c.1701C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408410.1:c.1638C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408411.1:c.1635C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408412.1:c.1632C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408413.1:c.1632C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408414.1:c.1632C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408415.1:c.1632C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408416.1:c.1632C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408418.1:c.1596C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408419.1:c.1596C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408420.1:c.1596C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408421.1:c.1593C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408422.1:c.1593C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408423.1:c.1593C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408424.1:c.1593C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408425.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408426.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408427.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408428.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408429.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408430.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408431.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408432.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408433.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408434.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408435.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408436.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408437.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408438.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408439.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408440.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408441.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408442.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408443.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408444.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408445.1:c.1584C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408446.1:c.1584C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408447.1:c.1584C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408448.1:c.1584C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408450.1:c.1584C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408451.1:c.1578C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408452.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408453.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408454.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408455.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408456.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408457.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408458.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408459.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408460.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408461.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408462.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408463.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408464.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408465.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408466.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408467.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408468.1:c.1566C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408469.1:c.1566C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408470.1:c.1566C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408472.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408473.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408474.1:c.1512C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408475.1:c.1509C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408476.1:c.1509C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408478.1:c.1503C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408479.1:c.1503C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408480.1:c.1503C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408481.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408482.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408483.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408484.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408485.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408489.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408490.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408491.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408492.1:c.1497C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408493.1:c.1497C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408494.1:c.1473C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408495.1:c.1467C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408496.1:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408497.1:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408498.1:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408499.1:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408500.1:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408501.1:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408502.1:c.1446C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408503.1:c.1446C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408504.1:c.1446C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408505.1:c.1443C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408506.1:c.1386C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408507.1:c.1383C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408508.1:c.1374C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408509.1:c.1371C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408510.1:c.1332C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408511.1:c.1329C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408512.1:c.1209C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408513.1:c.1182C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007294.4:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007297.4:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007298.4:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007299.4:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007300.4:c.5085C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007304.2:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000578465	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29))	Likely benign (Jun 29, 2017)	germline	curation	Citation Link,
SCV000785187	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (May 24, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf, Citation Link,
SCV002568356	University of Washington Department of Laboratory Medicine, University of Washington	no assertion criteria provided	Pathogenic (Jul 21, 2021)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 28339459, 31843900
SCV004016786	KCCC/NGS Laboratory, Kuwait Cancer Control Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jul 7, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004817603	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (May 16, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	108544	not provided	clinical testing, curation
not provided	unknown	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.

Trujillano D, Weiss ME, Schneider J, Köster J, Papachristos EB, Saviouk V, Zakharkina T, Nahavandi N, Kovacevic L, Rolfs A.

J Mol Diagn. 2015 Mar;17(2):162-70. doi: 10.1016/j.jmoldx.2014.11.004. Epub 2014 Dec 31.

PubMed [citation]

PMID:: 25556971

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

Fraile-Bethencourt E, Díez-Gómez B, Velásquez-Zapata V, Acedo A, Sanz DJ, Velasco EA.

PLoS Genet. 2017 Mar;13(3):e1006691. doi: 10.1371/journal.pgen.1006691.

PubMed [citation]

PMID:: 28339459
PMCID:: PMC5384790

See all PubMed Citations (4)

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000578465.2

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

Description

Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).

#	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 Counsyl, SCV000785187.2

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

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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV002568356.1

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

Description

Based on functional RNA studies, the BRCA1 c.5022C>T variant was shown to disrupt splicing regulatory motifs in BRCA1 exon 17 and results in exon skipping, which leads to a premature stop codon in 32% of transcripts from the variant allele (Casadei 2019). These studies provide some evidence that this variant is pathogenic for a hypomorphic risk. Because this variant results in some full length BRCA1 transcripts, the cancer risks conferred by this variant are likely to be different than the risks associated with other pathogenic BRCA1 variants. Some literature suggests that variants like this one should be classified as variants of uncertain significance because the level of associated risk has not been established (Fraile-Bethencourt 2017).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016786.1

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

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

From All of Us Research Program, National Institutes of Health, SCV004817603.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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