NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Dec 8, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000074588.24

Allele description [Variation Report for NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)]

NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

Microsatellite

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)

HGVS:

NC_000017.10:g.41243506_41243507del
NC_000017.11:g.43091489CT[1]
NG_005905.2:g.126492AG[1]
NG_087068.1:g.471CT[1]
NM_001407571.1:c.3828_3829del
NM_001407581.1:c.4041_4042del
NM_001407582.1:c.4041_4042del
NM_001407583.1:c.4041_4042del
NM_001407585.1:c.4041_4042del
NM_001407587.1:c.4038_4039del
NM_001407590.1:c.4038_4039del
NM_001407591.1:c.4038_4039del
NM_001407593.1:c.4041_4042del
NM_001407594.1:c.4041_4042del
NM_001407596.1:c.4041_4042del
NM_001407597.1:c.4041_4042del
NM_001407598.1:c.4041_4042del
NM_001407602.1:c.4041_4042del
NM_001407603.1:c.4041_4042del
NM_001407605.1:c.4041_4042del
NM_001407610.1:c.4038_4039del
NM_001407611.1:c.4038_4039del
NM_001407612.1:c.4038_4039del
NM_001407613.1:c.4038_4039del
NM_001407614.1:c.4038_4039del
NM_001407615.1:c.4038_4039del
NM_001407616.1:c.4041_4042del
NM_001407617.1:c.4041_4042del
NM_001407618.1:c.4041_4042del
NM_001407619.1:c.4041_4042del
NM_001407620.1:c.4041_4042del
NM_001407621.1:c.4041_4042del
NM_001407622.1:c.4041_4042del
NM_001407623.1:c.4041_4042del
NM_001407624.1:c.4041_4042del
NM_001407625.1:c.4041_4042del
NM_001407626.1:c.4041_4042del
NM_001407627.1:c.4038_4039del
NM_001407628.1:c.4038_4039del
NM_001407629.1:c.4038_4039del
NM_001407630.1:c.4038_4039del
NM_001407631.1:c.4038_4039del
NM_001407632.1:c.4038_4039del
NM_001407633.1:c.4038_4039del
NM_001407634.1:c.4038_4039del
NM_001407635.1:c.4038_4039del
NM_001407636.1:c.4038_4039del
NM_001407637.1:c.4038_4039del
NM_001407638.1:c.4038_4039del
NM_001407639.1:c.4041_4042del
NM_001407640.1:c.4041_4042del
NM_001407641.1:c.4041_4042del
NM_001407642.1:c.4041_4042del
NM_001407644.1:c.4038_4039del
NM_001407645.1:c.4038_4039del
NM_001407646.1:c.4032_4033del
NM_001407647.1:c.4032_4033del
NM_001407648.1:c.3918_3919del
NM_001407649.1:c.3915_3916del
NM_001407652.1:c.4041_4042del
NM_001407653.1:c.3963_3964del
NM_001407654.1:c.3963_3964del
NM_001407655.1:c.3963_3964del
NM_001407656.1:c.3963_3964del
NM_001407657.1:c.3963_3964del
NM_001407658.1:c.3963_3964del
NM_001407659.1:c.3960_3961del
NM_001407660.1:c.3960_3961del
NM_001407661.1:c.3960_3961del
NM_001407662.1:c.3960_3961del
NM_001407663.1:c.3963_3964del
NM_001407664.1:c.3918_3919del
NM_001407665.1:c.3918_3919del
NM_001407666.1:c.3918_3919del
NM_001407667.1:c.3918_3919del
NM_001407668.1:c.3918_3919del
NM_001407669.1:c.3918_3919del
NM_001407670.1:c.3915_3916del
NM_001407671.1:c.3915_3916del
NM_001407672.1:c.3915_3916del
NM_001407673.1:c.3915_3916del
NM_001407674.1:c.3918_3919del
NM_001407675.1:c.3918_3919del
NM_001407676.1:c.3918_3919del
NM_001407677.1:c.3918_3919del
NM_001407678.1:c.3918_3919del
NM_001407679.1:c.3918_3919del
NM_001407680.1:c.3918_3919del
NM_001407681.1:c.3918_3919del
NM_001407682.1:c.3918_3919del
NM_001407683.1:c.3918_3919del
NM_001407684.1:c.4041_4042del
NM_001407685.1:c.3915_3916del
NM_001407686.1:c.3915_3916del
NM_001407687.1:c.3915_3916del
NM_001407688.1:c.3915_3916del
NM_001407689.1:c.3915_3916del
NM_001407690.1:c.3915_3916del
NM_001407691.1:c.3915_3916del
NM_001407692.1:c.3900_3901del
NM_001407694.1:c.3900_3901del
NM_001407695.1:c.3900_3901del
NM_001407696.1:c.3900_3901del
NM_001407697.1:c.3900_3901del
NM_001407698.1:c.3900_3901del
NM_001407724.1:c.3900_3901del
NM_001407725.1:c.3900_3901del
NM_001407726.1:c.3900_3901del
NM_001407727.1:c.3900_3901del
NM_001407728.1:c.3900_3901del
NM_001407729.1:c.3900_3901del
NM_001407730.1:c.3900_3901del
NM_001407731.1:c.3900_3901del
NM_001407732.1:c.3900_3901del
NM_001407733.1:c.3900_3901del
NM_001407734.1:c.3900_3901del
NM_001407735.1:c.3900_3901del
NM_001407736.1:c.3900_3901del
NM_001407737.1:c.3900_3901del
NM_001407738.1:c.3900_3901del
NM_001407739.1:c.3900_3901del
NM_001407740.1:c.3897_3898del
NM_001407741.1:c.3897_3898del
NM_001407742.1:c.3897_3898del
NM_001407743.1:c.3897_3898del
NM_001407744.1:c.3897_3898del
NM_001407745.1:c.3897_3898del
NM_001407746.1:c.3897_3898del
NM_001407747.1:c.3897_3898del
NM_001407748.1:c.3897_3898del
NM_001407749.1:c.3897_3898del
NM_001407750.1:c.3900_3901del
NM_001407751.1:c.3900_3901del
NM_001407752.1:c.3900_3901del
NM_001407838.1:c.3897_3898del
NM_001407839.1:c.3897_3898del
NM_001407841.1:c.3897_3898del
NM_001407842.1:c.3897_3898del
NM_001407843.1:c.3897_3898del
NM_001407844.1:c.3897_3898del
NM_001407845.1:c.3897_3898del
NM_001407846.1:c.3897_3898del
NM_001407847.1:c.3897_3898del
NM_001407848.1:c.3897_3898del
NM_001407849.1:c.3897_3898del
NM_001407850.1:c.3900_3901del
NM_001407851.1:c.3900_3901del
NM_001407852.1:c.3900_3901del
NM_001407853.1:c.3828_3829del
NM_001407854.1:c.4041_4042del
NM_001407858.1:c.4041_4042del
NM_001407859.1:c.4041_4042del
NM_001407860.1:c.4038_4039del
NM_001407861.1:c.4038_4039del
NM_001407862.1:c.3840_3841del
NM_001407863.1:c.3918_3919del
NM_001407874.1:c.3837_3838del
NM_001407875.1:c.3837_3838del
NM_001407879.1:c.3831_3832del
NM_001407881.1:c.3831_3832del
NM_001407882.1:c.3831_3832del
NM_001407884.1:c.3831_3832del
NM_001407885.1:c.3831_3832del
NM_001407886.1:c.3831_3832del
NM_001407887.1:c.3831_3832del
NM_001407889.1:c.3831_3832del
NM_001407894.1:c.3828_3829del
NM_001407895.1:c.3828_3829del
NM_001407896.1:c.3828_3829del
NM_001407897.1:c.3828_3829del
NM_001407898.1:c.3828_3829del
NM_001407899.1:c.3828_3829del
NM_001407900.1:c.3831_3832del
NM_001407902.1:c.3831_3832del
NM_001407904.1:c.3831_3832del
NM_001407906.1:c.3831_3832del
NM_001407907.1:c.3831_3832del
NM_001407908.1:c.3831_3832del
NM_001407909.1:c.3831_3832del
NM_001407910.1:c.3831_3832del
NM_001407915.1:c.3828_3829del
NM_001407916.1:c.3828_3829del
NM_001407917.1:c.3828_3829del
NM_001407918.1:c.3828_3829del
NM_001407919.1:c.3918_3919del
NM_001407920.1:c.3777_3778del
NM_001407921.1:c.3777_3778del
NM_001407922.1:c.3777_3778del
NM_001407923.1:c.3777_3778del
NM_001407924.1:c.3777_3778del
NM_001407925.1:c.3777_3778del
NM_001407926.1:c.3777_3778del
NM_001407927.1:c.3777_3778del
NM_001407928.1:c.3777_3778del
NM_001407929.1:c.3777_3778del
NM_001407930.1:c.3774_3775del
NM_001407931.1:c.3774_3775del
NM_001407932.1:c.3774_3775del
NM_001407933.1:c.3777_3778del
NM_001407934.1:c.3774_3775del
NM_001407935.1:c.3777_3778del
NM_001407936.1:c.3774_3775del
NM_001407937.1:c.3918_3919del
NM_001407938.1:c.3918_3919del
NM_001407939.1:c.3918_3919del
NM_001407940.1:c.3915_3916del
NM_001407941.1:c.3915_3916del
NM_001407942.1:c.3900_3901del
NM_001407943.1:c.3897_3898del
NM_001407944.1:c.3900_3901del
NM_001407945.1:c.3900_3901del
NM_001407946.1:c.3708_3709del
NM_001407947.1:c.3708_3709del
NM_001407948.1:c.3708_3709del
NM_001407949.1:c.3708_3709del
NM_001407950.1:c.3708_3709del
NM_001407951.1:c.3708_3709del
NM_001407952.1:c.3708_3709del
NM_001407953.1:c.3708_3709del
NM_001407954.1:c.3705_3706del
NM_001407955.1:c.3705_3706del
NM_001407956.1:c.3705_3706del
NM_001407957.1:c.3708_3709del
NM_001407958.1:c.3705_3706del
NM_001407959.1:c.3660_3661del
NM_001407960.1:c.3660_3661del
NM_001407962.1:c.3657_3658del
NM_001407963.1:c.3660_3661del
NM_001407964.1:c.3897_3898del
NM_001407965.1:c.3537_3538del
NM_001407966.1:c.3153_3154del
NM_001407967.1:c.3153_3154del
NM_001407968.1:c.1437_1438del
NM_001407969.1:c.1437_1438del
NM_001407970.1:c.788-458_788-457del
NM_001407971.1:c.788-458_788-457del
NM_001407972.1:c.785-458_785-457del
NM_001407973.1:c.788-458_788-457del
NM_001407974.1:c.788-458_788-457del
NM_001407975.1:c.788-458_788-457del
NM_001407976.1:c.788-458_788-457del
NM_001407977.1:c.788-458_788-457del
NM_001407978.1:c.788-458_788-457del
NM_001407979.1:c.788-458_788-457del
NM_001407980.1:c.788-458_788-457del
NM_001407981.1:c.788-458_788-457del
NM_001407982.1:c.788-458_788-457del
NM_001407983.1:c.788-458_788-457del
NM_001407984.1:c.785-458_785-457del
NM_001407985.1:c.785-458_785-457del
NM_001407986.1:c.785-458_785-457del
NM_001407990.1:c.788-458_788-457del
NM_001407991.1:c.785-458_785-457del
NM_001407992.1:c.785-458_785-457del
NM_001407993.1:c.788-458_788-457del
NM_001408392.1:c.785-458_785-457del
NM_001408396.1:c.785-458_785-457del
NM_001408397.1:c.785-458_785-457del
NM_001408398.1:c.785-458_785-457del
NM_001408399.1:c.785-458_785-457del
NM_001408400.1:c.785-458_785-457del
NM_001408401.1:c.785-458_785-457del
NM_001408402.1:c.785-458_785-457del
NM_001408403.1:c.788-458_788-457del
NM_001408404.1:c.788-458_788-457del
NM_001408406.1:c.791-467_791-466del
NM_001408407.1:c.785-458_785-457del
NM_001408408.1:c.779-458_779-457del
NM_001408409.1:c.710-458_710-457del
NM_001408410.1:c.647-458_647-457del
NM_001408411.1:c.710-458_710-457del
NM_001408412.1:c.710-458_710-457del
NM_001408413.1:c.707-458_707-457del
NM_001408414.1:c.710-458_710-457del
NM_001408415.1:c.710-458_710-457del
NM_001408416.1:c.707-458_707-457del
NM_001408418.1:c.671-458_671-457del
NM_001408419.1:c.671-458_671-457del
NM_001408420.1:c.671-458_671-457del
NM_001408421.1:c.668-458_668-457del
NM_001408422.1:c.671-458_671-457del
NM_001408423.1:c.671-458_671-457del
NM_001408424.1:c.668-458_668-457del
NM_001408425.1:c.665-458_665-457del
NM_001408426.1:c.665-458_665-457del
NM_001408427.1:c.665-458_665-457del
NM_001408428.1:c.665-458_665-457del
NM_001408429.1:c.665-458_665-457del
NM_001408430.1:c.665-458_665-457del
NM_001408431.1:c.668-458_668-457del
NM_001408432.1:c.662-458_662-457del
NM_001408433.1:c.662-458_662-457del
NM_001408434.1:c.662-458_662-457del
NM_001408435.1:c.662-458_662-457del
NM_001408436.1:c.665-458_665-457del
NM_001408437.1:c.665-458_665-457del
NM_001408438.1:c.665-458_665-457del
NM_001408439.1:c.665-458_665-457del
NM_001408440.1:c.665-458_665-457del
NM_001408441.1:c.665-458_665-457del
NM_001408442.1:c.665-458_665-457del
NM_001408443.1:c.665-458_665-457del
NM_001408444.1:c.665-458_665-457del
NM_001408445.1:c.662-458_662-457del
NM_001408446.1:c.662-458_662-457del
NM_001408447.1:c.662-458_662-457del
NM_001408448.1:c.662-458_662-457del
NM_001408450.1:c.662-458_662-457del
NM_001408451.1:c.653-458_653-457del
NM_001408452.1:c.647-458_647-457del
NM_001408453.1:c.647-458_647-457del
NM_001408454.1:c.647-458_647-457del
NM_001408455.1:c.647-458_647-457del
NM_001408456.1:c.647-458_647-457del
NM_001408457.1:c.647-458_647-457del
NM_001408458.1:c.647-458_647-457del
NM_001408459.1:c.647-458_647-457del
NM_001408460.1:c.647-458_647-457del
NM_001408461.1:c.647-458_647-457del
NM_001408462.1:c.644-458_644-457del
NM_001408463.1:c.644-458_644-457del
NM_001408464.1:c.644-458_644-457del
NM_001408465.1:c.644-458_644-457del
NM_001408466.1:c.647-458_647-457del
NM_001408467.1:c.647-458_647-457del
NM_001408468.1:c.644-458_644-457del
NM_001408469.1:c.647-458_647-457del
NM_001408470.1:c.644-458_644-457del
NM_001408472.1:c.788-458_788-457del
NM_001408473.1:c.785-458_785-457del
NM_001408474.1:c.587-458_587-457del
NM_001408475.1:c.584-458_584-457del
NM_001408476.1:c.587-458_587-457del
NM_001408478.1:c.578-458_578-457del
NM_001408479.1:c.578-458_578-457del
NM_001408480.1:c.578-458_578-457del
NM_001408481.1:c.578-458_578-457del
NM_001408482.1:c.578-458_578-457del
NM_001408483.1:c.578-458_578-457del
NM_001408484.1:c.578-458_578-457del
NM_001408485.1:c.578-458_578-457del
NM_001408489.1:c.578-458_578-457del
NM_001408490.1:c.575-458_575-457del
NM_001408491.1:c.575-458_575-457del
NM_001408492.1:c.578-458_578-457del
NM_001408493.1:c.575-458_575-457del
NM_001408494.1:c.548-458_548-457del
NM_001408495.1:c.545-458_545-457del
NM_001408496.1:c.524-458_524-457del
NM_001408497.1:c.524-458_524-457del
NM_001408498.1:c.524-458_524-457del
NM_001408499.1:c.524-458_524-457del
NM_001408500.1:c.524-458_524-457del
NM_001408501.1:c.524-458_524-457del
NM_001408502.1:c.455-458_455-457del
NM_001408503.1:c.521-458_521-457del
NM_001408504.1:c.521-458_521-457del
NM_001408505.1:c.521-458_521-457del
NM_001408506.1:c.461-458_461-457del
NM_001408507.1:c.461-458_461-457del
NM_001408508.1:c.452-458_452-457del
NM_001408509.1:c.452-458_452-457del
NM_001408510.1:c.407-458_407-457del
NM_001408511.1:c.404-458_404-457del
NM_001408512.1:c.284-458_284-457del
NM_001408513.1:c.578-458_578-457del
NM_001408514.1:c.578-458_578-457del
NM_007294.4:c.4041_4042delMANE SELECT
NM_007297.4:c.3900_3901del
NM_007298.4:c.788-458_788-457del
NM_007299.4:c.788-458_788-457del
NM_007300.4:c.4041_4042del
NP_001394500.1:p.Gly1277fs
NP_001394510.1:p.Gly1348fs
NP_001394511.1:p.Gly1348fs
NP_001394512.1:p.Gly1348fs
NP_001394514.1:p.Gly1348fs
NP_001394516.1:p.Gly1347fs
NP_001394519.1:p.Gly1347fs
NP_001394520.1:p.Gly1347fs
NP_001394522.1:p.Gly1348fs
NP_001394523.1:p.Gly1348fs
NP_001394525.1:p.Gly1348fs
NP_001394526.1:p.Gly1348fs
NP_001394527.1:p.Gly1348fs
NP_001394531.1:p.Gly1348fs
NP_001394532.1:p.Gly1348fs
NP_001394534.1:p.Gly1348fs
NP_001394539.1:p.Gly1347fs
NP_001394540.1:p.Gly1347fs
NP_001394541.1:p.Gly1347fs
NP_001394542.1:p.Gly1347fs
NP_001394543.1:p.Gly1347fs
NP_001394544.1:p.Gly1347fs
NP_001394545.1:p.Gly1348fs
NP_001394546.1:p.Gly1348fs
NP_001394547.1:p.Gly1348fs
NP_001394548.1:p.Gly1348fs
NP_001394549.1:p.Gly1348fs
NP_001394550.1:p.Gly1348fs
NP_001394551.1:p.Gly1348fs
NP_001394552.1:p.Gly1348fs
NP_001394553.1:p.Gly1348fs
NP_001394554.1:p.Gly1348fs
NP_001394555.1:p.Gly1348fs
NP_001394556.1:p.Gly1347fs
NP_001394557.1:p.Gly1347fs
NP_001394558.1:p.Gly1347fs
NP_001394559.1:p.Gly1347fs
NP_001394560.1:p.Gly1347fs
NP_001394561.1:p.Gly1347fs
NP_001394562.1:p.Gly1347fs
NP_001394563.1:p.Gly1347fs
NP_001394564.1:p.Gly1347fs
NP_001394565.1:p.Gly1347fs
NP_001394566.1:p.Gly1347fs
NP_001394567.1:p.Gly1347fs
NP_001394568.1:p.Gly1348fs
NP_001394569.1:p.Gly1348fs
NP_001394570.1:p.Gly1348fs
NP_001394571.1:p.Gly1348fs
NP_001394573.1:p.Gly1347fs
NP_001394574.1:p.Gly1347fs
NP_001394575.1:p.Gly1345fs
NP_001394576.1:p.Gly1345fs
NP_001394577.1:p.Gly1307fs
NP_001394578.1:p.Gly1306fs
NP_001394581.1:p.Gly1348fs
NP_001394582.1:p.Gly1322fs
NP_001394583.1:p.Gly1322fs
NP_001394584.1:p.Gly1322fs
NP_001394585.1:p.Gly1322fs
NP_001394586.1:p.Gly1322fs
NP_001394587.1:p.Gly1322fs
NP_001394588.1:p.Gly1321fs
NP_001394589.1:p.Gly1321fs
NP_001394590.1:p.Gly1321fs
NP_001394591.1:p.Gly1321fs
NP_001394592.1:p.Gly1322fs
NP_001394593.1:p.Gly1307fs
NP_001394594.1:p.Gly1307fs
NP_001394595.1:p.Gly1307fs
NP_001394596.1:p.Gly1307fs
NP_001394597.1:p.Gly1307fs
NP_001394598.1:p.Gly1307fs
NP_001394599.1:p.Gly1306fs
NP_001394600.1:p.Gly1306fs
NP_001394601.1:p.Gly1306fs
NP_001394602.1:p.Gly1306fs
NP_001394603.1:p.Gly1307fs
NP_001394604.1:p.Gly1307fs
NP_001394605.1:p.Gly1307fs
NP_001394606.1:p.Gly1307fs
NP_001394607.1:p.Gly1307fs
NP_001394608.1:p.Gly1307fs
NP_001394609.1:p.Gly1307fs
NP_001394610.1:p.Gly1307fs
NP_001394611.1:p.Gly1307fs
NP_001394612.1:p.Gly1307fs
NP_001394613.1:p.Gly1348fs
NP_001394614.1:p.Gly1306fs
NP_001394615.1:p.Gly1306fs
NP_001394616.1:p.Gly1306fs
NP_001394617.1:p.Gly1306fs
NP_001394618.1:p.Gly1306fs
NP_001394619.1:p.Gly1306fs
NP_001394620.1:p.Gly1306fs
NP_001394621.1:p.Gly1301fs
NP_001394623.1:p.Gly1301fs
NP_001394624.1:p.Gly1301fs
NP_001394625.1:p.Gly1301fs
NP_001394626.1:p.Gly1301fs
NP_001394627.1:p.Gly1301fs
NP_001394653.1:p.Gly1301fs
NP_001394654.1:p.Gly1301fs
NP_001394655.1:p.Gly1301fs
NP_001394656.1:p.Gly1301fs
NP_001394657.1:p.Gly1301fs
NP_001394658.1:p.Gly1301fs
NP_001394659.1:p.Gly1301fs
NP_001394660.1:p.Gly1301fs
NP_001394661.1:p.Gly1301fs
NP_001394662.1:p.Gly1301fs
NP_001394663.1:p.Gly1301fs
NP_001394664.1:p.Gly1301fs
NP_001394665.1:p.Gly1301fs
NP_001394666.1:p.Gly1301fs
NP_001394667.1:p.Gly1301fs
NP_001394668.1:p.Gly1301fs
NP_001394669.1:p.Gly1300fs
NP_001394670.1:p.Gly1300fs
NP_001394671.1:p.Gly1300fs
NP_001394672.1:p.Gly1300fs
NP_001394673.1:p.Gly1300fs
NP_001394674.1:p.Gly1300fs
NP_001394675.1:p.Gly1300fs
NP_001394676.1:p.Gly1300fs
NP_001394677.1:p.Gly1300fs
NP_001394678.1:p.Gly1300fs
NP_001394679.1:p.Gly1301fs
NP_001394680.1:p.Gly1301fs
NP_001394681.1:p.Gly1301fs
NP_001394767.1:p.Gly1300fs
NP_001394768.1:p.Gly1300fs
NP_001394770.1:p.Gly1300fs
NP_001394771.1:p.Gly1300fs
NP_001394772.1:p.Gly1300fs
NP_001394773.1:p.Gly1300fs
NP_001394774.1:p.Gly1300fs
NP_001394775.1:p.Gly1300fs
NP_001394776.1:p.Gly1300fs
NP_001394777.1:p.Gly1300fs
NP_001394778.1:p.Gly1300fs
NP_001394779.1:p.Gly1301fs
NP_001394780.1:p.Gly1301fs
NP_001394781.1:p.Gly1301fs
NP_001394782.1:p.Gly1277fs
NP_001394783.1:p.Gly1348fs
NP_001394787.1:p.Gly1348fs
NP_001394788.1:p.Gly1348fs
NP_001394789.1:p.Gly1347fs
NP_001394790.1:p.Gly1347fs
NP_001394791.1:p.Gly1281fs
NP_001394792.1:p.Gly1307fs
NP_001394803.1:p.Gly1280fs
NP_001394804.1:p.Gly1280fs
NP_001394808.1:p.Gly1278fs
NP_001394810.1:p.Gly1278fs
NP_001394811.1:p.Gly1278fs
NP_001394813.1:p.Gly1278fs
NP_001394814.1:p.Gly1278fs
NP_001394815.1:p.Gly1278fs
NP_001394816.1:p.Gly1278fs
NP_001394818.1:p.Gly1278fs
NP_001394823.1:p.Gly1277fs
NP_001394824.1:p.Gly1277fs
NP_001394825.1:p.Gly1277fs
NP_001394826.1:p.Gly1277fs
NP_001394827.1:p.Gly1277fs
NP_001394828.1:p.Gly1277fs
NP_001394829.1:p.Gly1278fs
NP_001394831.1:p.Gly1278fs
NP_001394833.1:p.Gly1278fs
NP_001394835.1:p.Gly1278fs
NP_001394836.1:p.Gly1278fs
NP_001394837.1:p.Gly1278fs
NP_001394838.1:p.Gly1278fs
NP_001394839.1:p.Gly1278fs
NP_001394844.1:p.Gly1277fs
NP_001394845.1:p.Gly1277fs
NP_001394846.1:p.Gly1277fs
NP_001394847.1:p.Gly1277fs
NP_001394848.1:p.Gly1307fs
NP_001394849.1:p.Gly1260fs
NP_001394850.1:p.Gly1260fs
NP_001394851.1:p.Gly1260fs
NP_001394852.1:p.Gly1260fs
NP_001394853.1:p.Gly1260fs
NP_001394854.1:p.Gly1260fs
NP_001394855.1:p.Gly1260fs
NP_001394856.1:p.Gly1260fs
NP_001394857.1:p.Gly1260fs
NP_001394858.1:p.Gly1260fs
NP_001394859.1:p.Gly1259fs
NP_001394860.1:p.Gly1259fs
NP_001394861.1:p.Gly1259fs
NP_001394862.1:p.Gly1260fs
NP_001394863.1:p.Gly1259fs
NP_001394864.1:p.Gly1260fs
NP_001394865.1:p.Gly1259fs
NP_001394866.1:p.Gly1307fs
NP_001394867.1:p.Gly1307fs
NP_001394868.1:p.Gly1307fs
NP_001394869.1:p.Gly1306fs
NP_001394870.1:p.Gly1306fs
NP_001394871.1:p.Gly1301fs
NP_001394872.1:p.Gly1300fs
NP_001394873.1:p.Gly1301fs
NP_001394874.1:p.Gly1301fs
NP_001394875.1:p.Gly1237fs
NP_001394876.1:p.Gly1237fs
NP_001394877.1:p.Gly1237fs
NP_001394878.1:p.Gly1237fs
NP_001394879.1:p.Gly1237fs
NP_001394880.1:p.Gly1237fs
NP_001394881.1:p.Gly1237fs
NP_001394882.1:p.Gly1237fs
NP_001394883.1:p.Gly1236fs
NP_001394884.1:p.Gly1236fs
NP_001394885.1:p.Gly1236fs
NP_001394886.1:p.Gly1237fs
NP_001394887.1:p.Gly1236fs
NP_001394888.1:p.Gly1221fs
NP_001394889.1:p.Gly1221fs
NP_001394891.1:p.Gly1220fs
NP_001394892.1:p.Gly1221fs
NP_001394893.1:p.Gly1300fs
NP_001394894.1:p.Gly1180fs
NP_001394895.1:p.Gly1052fs
NP_001394896.1:p.Gly1052fs
NP_001394897.1:p.Gly480fs
NP_001394898.1:p.Gly480fs
NP_009225.1:p.Gly1348Asnfs
NP_009225.1:p.Gly1348fs
NP_009228.2:p.Gly1301fs
NP_009231.2:p.Gly1348fs
LRG_292t1:c.4039_4040AG[1]
LRG_292:g.126492AG[1]
LRG_292p1:p.Gly1348Asnfs
NC_000017.10:g.41243506CT[1]
NC_000017.10:g.41243506_41243507del
NC_000017.10:g.41243506_41243507delCT
NM_007294.3:c.4039_4040AG[1]
NM_007294.3:c.4041_4042delAG
NM_007294.4:c.4041_4042del
NM_007300.3:c.4041_4042delAG
NR_027676.1:n.4175_4176AG[1]
U14680.1:n.4160_4161delAG
p.G1348Nfs*7
p.G1348NfsX7
p.Gly1348Asnfs*7

Nucleotide change:

4160delAG

Protein change:

G1052fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4160&base_change=del AG; dbSNP: rs80357727

NCBI 1000 Genomes Browser:

rs80357727

Molecular consequence:

NM_001407571.1:c.3828_3829del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.4032_4033del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.4032_4033del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3963_3964del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3963_3964del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3963_3964del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3963_3964del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3963_3964del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3963_3964del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3960_3961del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3960_3961del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3960_3961del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3960_3961del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3963_3964del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.3828_3829del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.4038_4039del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3840_3841del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3837_3838del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3837_3838del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.3828_3829del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.3828_3829del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.3828_3829del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.3828_3829del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.3828_3829del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.3828_3829del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3831_3832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.3828_3829del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.3828_3829del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.3828_3829del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.3828_3829del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.3777_3778del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.3777_3778del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.3777_3778del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.3777_3778del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.3777_3778del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.3777_3778del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.3777_3778del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.3777_3778del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.3777_3778del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.3777_3778del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.3774_3775del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.3774_3775del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.3774_3775del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.3777_3778del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.3774_3775del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.3777_3778del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.3774_3775del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3918_3919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3915_3916del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.3708_3709del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.3708_3709del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.3708_3709del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.3708_3709del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.3708_3709del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.3708_3709del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.3708_3709del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.3708_3709del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.3705_3706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.3705_3706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.3705_3706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.3708_3709del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.3705_3706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.3660_3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.3660_3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.3657_3658del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.3660_3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3897_3898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.3537_3538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.1437_1438del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.1437_1438del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3900_3901del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.4041_4042del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-467_791-466del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-458_779-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-458_710-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-458_710-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-458_710-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-458_707-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-458_710-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-458_710-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-458_707-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-458_671-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-458_671-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-458_671-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-458_668-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-458_671-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-458_671-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-458_668-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-458_668-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-458_662-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-458_662-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-458_662-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-458_662-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-458_665-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-458_662-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-458_662-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-458_662-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-458_662-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-458_662-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-458_653-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-458_644-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-458_644-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-458_644-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-458_644-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-458_644-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-458_647-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-458_644-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-458_785-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-458_587-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-458_584-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-458_587-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-458_578-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-458_578-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-458_578-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-458_578-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-458_578-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-458_578-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-458_578-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-458_578-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-458_578-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-458_575-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-458_575-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-458_578-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-458_575-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-458_548-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-458_545-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-458_524-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-458_524-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-458_524-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-458_524-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-458_524-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-458_524-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-458_455-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-458_521-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-458_521-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-458_521-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-458_461-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-458_461-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-458_452-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-458_452-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-458_407-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-458_404-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-458_284-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-458_578-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-458_578-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-458_788-457del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000076432	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 8, 2023)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 20104584, 9649133, 12204006, 23697973, 25330149, 25418591, 27083178, 28492532
SCV000587369	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Pathogenic (Jan 31, 2014)	germline	research
SCV000588053	Department of Pathology and Molecular Medicine, Queen's University - The Canadian Open Genetics Repository (COGR)	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 20, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000699101	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Apr 9, 2022)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 16267036, 22006311, 17922257, 19016756, 22798144, 9649133 Citation Link

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Summary from all submissions

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

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families.

Kang HC, Kim IJ, Park JH, Kwon HJ, Won YJ, Heo SC, Lee SY, Kim KH, Shin Y, Noh DY, Yang DH, Choe KJ, Lee BH, King SB, Park JG.

Hum Mutat. 2002 Sep;20(3):235.

PubMed [citation]

PMID:: 12204006

See all PubMed Citations (14)

Details of each submission

From Invitae, SCV000076432.10

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

Description

This sequence change creates a premature translational stop signal (p.Gly1348Asnfs*7) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary breast and/or ovarian cancer (PMID: 9649133, 12204006, 23697973, 25330149, 25418591, 27083178). ClinVar contains an entry for this variant (Variation ID: 55082). For these reasons, this variant has been classified as Pathogenic.

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

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587369.1

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

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

From Department of Pathology and Molecular Medicine, Queen's University - The Canadian Open Genetics Repository (COGR), SCV000588053.1

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699101.2

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

Description

Variant summary: BRCA1 c.4041_4042delAG (p.Gly1348AsnfsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251088 control chromosomes. c.4041_4042delAG has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Walsh_2011, Troudi_2007, Sugano_2008, Kim_2012, Eccles_1998, Judkins_2005). These data indicate that the variant is very likely to be associated with disease. Multiple clinical diagnostic laboratories, an expert panel (ENIGMA) and a consortium (CIMBA) have submitted clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Sep 16, 2024

ClinVar

Relating variation to medicine