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NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND Breast and/or ovarian cancer

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Mar 25, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000735453.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)]

NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
Other names:
3333del4; 4184_4187delTCAA
HGVS:
  • NC_000017.11:g.43091465_43091468del
  • NG_005905.2:g.126518_126521del
  • NG_087068.1:g.447_450del
  • NM_001407571.1:c.3852_3855del
  • NM_001407581.1:c.4065_4068del
  • NM_001407582.1:c.4065_4068del
  • NM_001407583.1:c.4065_4068del
  • NM_001407585.1:c.4065_4068del
  • NM_001407587.1:c.4062_4065del
  • NM_001407590.1:c.4062_4065del
  • NM_001407591.1:c.4062_4065del
  • NM_001407593.1:c.4065_4068del
  • NM_001407594.1:c.4065_4068del
  • NM_001407596.1:c.4065_4068del
  • NM_001407597.1:c.4065_4068del
  • NM_001407598.1:c.4065_4068del
  • NM_001407602.1:c.4065_4068del
  • NM_001407603.1:c.4065_4068del
  • NM_001407605.1:c.4065_4068del
  • NM_001407610.1:c.4062_4065del
  • NM_001407611.1:c.4062_4065del
  • NM_001407612.1:c.4062_4065del
  • NM_001407613.1:c.4062_4065del
  • NM_001407614.1:c.4062_4065del
  • NM_001407615.1:c.4062_4065del
  • NM_001407616.1:c.4065_4068del
  • NM_001407617.1:c.4065_4068del
  • NM_001407618.1:c.4065_4068del
  • NM_001407619.1:c.4065_4068del
  • NM_001407620.1:c.4065_4068del
  • NM_001407621.1:c.4065_4068del
  • NM_001407622.1:c.4065_4068del
  • NM_001407623.1:c.4065_4068del
  • NM_001407624.1:c.4065_4068del
  • NM_001407625.1:c.4065_4068del
  • NM_001407626.1:c.4065_4068del
  • NM_001407627.1:c.4062_4065del
  • NM_001407628.1:c.4062_4065del
  • NM_001407629.1:c.4062_4065del
  • NM_001407630.1:c.4062_4065del
  • NM_001407631.1:c.4062_4065del
  • NM_001407632.1:c.4062_4065del
  • NM_001407633.1:c.4062_4065del
  • NM_001407634.1:c.4062_4065del
  • NM_001407635.1:c.4062_4065del
  • NM_001407636.1:c.4062_4065del
  • NM_001407637.1:c.4062_4065del
  • NM_001407638.1:c.4062_4065del
  • NM_001407639.1:c.4065_4068del
  • NM_001407640.1:c.4065_4068del
  • NM_001407641.1:c.4065_4068del
  • NM_001407642.1:c.4065_4068del
  • NM_001407644.1:c.4062_4065del
  • NM_001407645.1:c.4062_4065del
  • NM_001407646.1:c.4056_4059del
  • NM_001407647.1:c.4056_4059del
  • NM_001407648.1:c.3942_3945del
  • NM_001407649.1:c.3939_3942del
  • NM_001407652.1:c.4065_4068del
  • NM_001407653.1:c.3987_3990del
  • NM_001407654.1:c.3987_3990del
  • NM_001407655.1:c.3987_3990del
  • NM_001407656.1:c.3987_3990del
  • NM_001407657.1:c.3987_3990del
  • NM_001407658.1:c.3987_3990del
  • NM_001407659.1:c.3984_3987del
  • NM_001407660.1:c.3984_3987del
  • NM_001407661.1:c.3984_3987del
  • NM_001407662.1:c.3984_3987del
  • NM_001407663.1:c.3987_3990del
  • NM_001407664.1:c.3942_3945del
  • NM_001407665.1:c.3942_3945del
  • NM_001407666.1:c.3942_3945del
  • NM_001407667.1:c.3942_3945del
  • NM_001407668.1:c.3942_3945del
  • NM_001407669.1:c.3942_3945del
  • NM_001407670.1:c.3939_3942del
  • NM_001407671.1:c.3939_3942del
  • NM_001407672.1:c.3939_3942del
  • NM_001407673.1:c.3939_3942del
  • NM_001407674.1:c.3942_3945del
  • NM_001407675.1:c.3942_3945del
  • NM_001407676.1:c.3942_3945del
  • NM_001407677.1:c.3942_3945del
  • NM_001407678.1:c.3942_3945del
  • NM_001407679.1:c.3942_3945del
  • NM_001407680.1:c.3942_3945del
  • NM_001407681.1:c.3942_3945del
  • NM_001407682.1:c.3942_3945del
  • NM_001407683.1:c.3942_3945del
  • NM_001407684.1:c.4065_4068del
  • NM_001407685.1:c.3939_3942del
  • NM_001407686.1:c.3939_3942del
  • NM_001407687.1:c.3939_3942del
  • NM_001407688.1:c.3939_3942del
  • NM_001407689.1:c.3939_3942del
  • NM_001407690.1:c.3939_3942del
  • NM_001407691.1:c.3939_3942del
  • NM_001407692.1:c.3924_3927del
  • NM_001407694.1:c.3924_3927del
  • NM_001407695.1:c.3924_3927del
  • NM_001407696.1:c.3924_3927del
  • NM_001407697.1:c.3924_3927del
  • NM_001407698.1:c.3924_3927del
  • NM_001407724.1:c.3924_3927del
  • NM_001407725.1:c.3924_3927del
  • NM_001407726.1:c.3924_3927del
  • NM_001407727.1:c.3924_3927del
  • NM_001407728.1:c.3924_3927del
  • NM_001407729.1:c.3924_3927del
  • NM_001407730.1:c.3924_3927del
  • NM_001407731.1:c.3924_3927del
  • NM_001407732.1:c.3924_3927del
  • NM_001407733.1:c.3924_3927del
  • NM_001407734.1:c.3924_3927del
  • NM_001407735.1:c.3924_3927del
  • NM_001407736.1:c.3924_3927del
  • NM_001407737.1:c.3924_3927del
  • NM_001407738.1:c.3924_3927del
  • NM_001407739.1:c.3924_3927del
  • NM_001407740.1:c.3921_3924del
  • NM_001407741.1:c.3921_3924del
  • NM_001407742.1:c.3921_3924del
  • NM_001407743.1:c.3921_3924del
  • NM_001407744.1:c.3921_3924del
  • NM_001407745.1:c.3921_3924del
  • NM_001407746.1:c.3921_3924del
  • NM_001407747.1:c.3921_3924del
  • NM_001407748.1:c.3921_3924del
  • NM_001407749.1:c.3921_3924del
  • NM_001407750.1:c.3924_3927del
  • NM_001407751.1:c.3924_3927del
  • NM_001407752.1:c.3924_3927del
  • NM_001407838.1:c.3921_3924del
  • NM_001407839.1:c.3921_3924del
  • NM_001407841.1:c.3921_3924del
  • NM_001407842.1:c.3921_3924del
  • NM_001407843.1:c.3921_3924del
  • NM_001407844.1:c.3921_3924del
  • NM_001407845.1:c.3921_3924del
  • NM_001407846.1:c.3921_3924del
  • NM_001407847.1:c.3921_3924del
  • NM_001407848.1:c.3921_3924del
  • NM_001407849.1:c.3921_3924del
  • NM_001407850.1:c.3924_3927del
  • NM_001407851.1:c.3924_3927del
  • NM_001407852.1:c.3924_3927del
  • NM_001407853.1:c.3852_3855del
  • NM_001407854.1:c.4065_4068del
  • NM_001407858.1:c.4065_4068del
  • NM_001407859.1:c.4065_4068del
  • NM_001407860.1:c.4062_4065del
  • NM_001407861.1:c.4062_4065del
  • NM_001407862.1:c.3864_3867del
  • NM_001407863.1:c.3942_3945del
  • NM_001407874.1:c.3861_3864del
  • NM_001407875.1:c.3861_3864del
  • NM_001407879.1:c.3855_3858del
  • NM_001407881.1:c.3855_3858del
  • NM_001407882.1:c.3855_3858del
  • NM_001407884.1:c.3855_3858del
  • NM_001407885.1:c.3855_3858del
  • NM_001407886.1:c.3855_3858del
  • NM_001407887.1:c.3855_3858del
  • NM_001407889.1:c.3855_3858del
  • NM_001407894.1:c.3852_3855del
  • NM_001407895.1:c.3852_3855del
  • NM_001407896.1:c.3852_3855del
  • NM_001407897.1:c.3852_3855del
  • NM_001407898.1:c.3852_3855del
  • NM_001407899.1:c.3852_3855del
  • NM_001407900.1:c.3855_3858del
  • NM_001407902.1:c.3855_3858del
  • NM_001407904.1:c.3855_3858del
  • NM_001407906.1:c.3855_3858del
  • NM_001407907.1:c.3855_3858del
  • NM_001407908.1:c.3855_3858del
  • NM_001407909.1:c.3855_3858del
  • NM_001407910.1:c.3855_3858del
  • NM_001407915.1:c.3852_3855del
  • NM_001407916.1:c.3852_3855del
  • NM_001407917.1:c.3852_3855del
  • NM_001407918.1:c.3852_3855del
  • NM_001407919.1:c.3942_3945del
  • NM_001407920.1:c.3801_3804del
  • NM_001407921.1:c.3801_3804del
  • NM_001407922.1:c.3801_3804del
  • NM_001407923.1:c.3801_3804del
  • NM_001407924.1:c.3801_3804del
  • NM_001407925.1:c.3801_3804del
  • NM_001407926.1:c.3801_3804del
  • NM_001407927.1:c.3801_3804del
  • NM_001407928.1:c.3801_3804del
  • NM_001407929.1:c.3801_3804del
  • NM_001407930.1:c.3798_3801del
  • NM_001407931.1:c.3798_3801del
  • NM_001407932.1:c.3798_3801del
  • NM_001407933.1:c.3801_3804del
  • NM_001407934.1:c.3798_3801del
  • NM_001407935.1:c.3801_3804del
  • NM_001407936.1:c.3798_3801del
  • NM_001407937.1:c.3942_3945del
  • NM_001407938.1:c.3942_3945del
  • NM_001407939.1:c.3942_3945del
  • NM_001407940.1:c.3939_3942del
  • NM_001407941.1:c.3939_3942del
  • NM_001407942.1:c.3924_3927del
  • NM_001407943.1:c.3921_3924del
  • NM_001407944.1:c.3924_3927del
  • NM_001407945.1:c.3924_3927del
  • NM_001407946.1:c.3732_3735del
  • NM_001407947.1:c.3732_3735del
  • NM_001407948.1:c.3732_3735del
  • NM_001407949.1:c.3732_3735del
  • NM_001407950.1:c.3732_3735del
  • NM_001407951.1:c.3732_3735del
  • NM_001407952.1:c.3732_3735del
  • NM_001407953.1:c.3732_3735del
  • NM_001407954.1:c.3729_3732del
  • NM_001407955.1:c.3729_3732del
  • NM_001407956.1:c.3729_3732del
  • NM_001407957.1:c.3732_3735del
  • NM_001407958.1:c.3729_3732del
  • NM_001407959.1:c.3684_3687del
  • NM_001407960.1:c.3684_3687del
  • NM_001407962.1:c.3681_3684del
  • NM_001407963.1:c.3684_3687del
  • NM_001407964.1:c.3921_3924del
  • NM_001407965.1:c.3561_3564del
  • NM_001407966.1:c.3177_3180del
  • NM_001407967.1:c.3177_3180del
  • NM_001407968.1:c.1461_1464del
  • NM_001407969.1:c.1461_1464del
  • NM_001407970.1:c.788-434_788-431del
  • NM_001407971.1:c.788-434_788-431del
  • NM_001407972.1:c.785-434_785-431del
  • NM_001407973.1:c.788-434_788-431del
  • NM_001407974.1:c.788-434_788-431del
  • NM_001407975.1:c.788-434_788-431del
  • NM_001407976.1:c.788-434_788-431del
  • NM_001407977.1:c.788-434_788-431del
  • NM_001407978.1:c.788-434_788-431del
  • NM_001407979.1:c.788-434_788-431del
  • NM_001407980.1:c.788-434_788-431del
  • NM_001407981.1:c.788-434_788-431del
  • NM_001407982.1:c.788-434_788-431del
  • NM_001407983.1:c.788-434_788-431del
  • NM_001407984.1:c.785-434_785-431del
  • NM_001407985.1:c.785-434_785-431del
  • NM_001407986.1:c.785-434_785-431del
  • NM_001407990.1:c.788-434_788-431del
  • NM_001407991.1:c.785-434_785-431del
  • NM_001407992.1:c.785-434_785-431del
  • NM_001407993.1:c.788-434_788-431del
  • NM_001408392.1:c.785-434_785-431del
  • NM_001408396.1:c.785-434_785-431del
  • NM_001408397.1:c.785-434_785-431del
  • NM_001408398.1:c.785-434_785-431del
  • NM_001408399.1:c.785-434_785-431del
  • NM_001408400.1:c.785-434_785-431del
  • NM_001408401.1:c.785-434_785-431del
  • NM_001408402.1:c.785-434_785-431del
  • NM_001408403.1:c.788-434_788-431del
  • NM_001408404.1:c.788-434_788-431del
  • NM_001408406.1:c.791-443_791-440del
  • NM_001408407.1:c.785-434_785-431del
  • NM_001408408.1:c.779-434_779-431del
  • NM_001408409.1:c.710-434_710-431del
  • NM_001408410.1:c.647-434_647-431del
  • NM_001408411.1:c.710-434_710-431del
  • NM_001408412.1:c.710-434_710-431del
  • NM_001408413.1:c.707-434_707-431del
  • NM_001408414.1:c.710-434_710-431del
  • NM_001408415.1:c.710-434_710-431del
  • NM_001408416.1:c.707-434_707-431del
  • NM_001408418.1:c.671-434_671-431del
  • NM_001408419.1:c.671-434_671-431del
  • NM_001408420.1:c.671-434_671-431del
  • NM_001408421.1:c.668-434_668-431del
  • NM_001408422.1:c.671-434_671-431del
  • NM_001408423.1:c.671-434_671-431del
  • NM_001408424.1:c.668-434_668-431del
  • NM_001408425.1:c.665-434_665-431del
  • NM_001408426.1:c.665-434_665-431del
  • NM_001408427.1:c.665-434_665-431del
  • NM_001408428.1:c.665-434_665-431del
  • NM_001408429.1:c.665-434_665-431del
  • NM_001408430.1:c.665-434_665-431del
  • NM_001408431.1:c.668-434_668-431del
  • NM_001408432.1:c.662-434_662-431del
  • NM_001408433.1:c.662-434_662-431del
  • NM_001408434.1:c.662-434_662-431del
  • NM_001408435.1:c.662-434_662-431del
  • NM_001408436.1:c.665-434_665-431del
  • NM_001408437.1:c.665-434_665-431del
  • NM_001408438.1:c.665-434_665-431del
  • NM_001408439.1:c.665-434_665-431del
  • NM_001408440.1:c.665-434_665-431del
  • NM_001408441.1:c.665-434_665-431del
  • NM_001408442.1:c.665-434_665-431del
  • NM_001408443.1:c.665-434_665-431del
  • NM_001408444.1:c.665-434_665-431del
  • NM_001408445.1:c.662-434_662-431del
  • NM_001408446.1:c.662-434_662-431del
  • NM_001408447.1:c.662-434_662-431del
  • NM_001408448.1:c.662-434_662-431del
  • NM_001408450.1:c.662-434_662-431del
  • NM_001408451.1:c.653-434_653-431del
  • NM_001408452.1:c.647-434_647-431del
  • NM_001408453.1:c.647-434_647-431del
  • NM_001408454.1:c.647-434_647-431del
  • NM_001408455.1:c.647-434_647-431del
  • NM_001408456.1:c.647-434_647-431del
  • NM_001408457.1:c.647-434_647-431del
  • NM_001408458.1:c.647-434_647-431del
  • NM_001408459.1:c.647-434_647-431del
  • NM_001408460.1:c.647-434_647-431del
  • NM_001408461.1:c.647-434_647-431del
  • NM_001408462.1:c.644-434_644-431del
  • NM_001408463.1:c.644-434_644-431del
  • NM_001408464.1:c.644-434_644-431del
  • NM_001408465.1:c.644-434_644-431del
  • NM_001408466.1:c.647-434_647-431del
  • NM_001408467.1:c.647-434_647-431del
  • NM_001408468.1:c.644-434_644-431del
  • NM_001408469.1:c.647-434_647-431del
  • NM_001408470.1:c.644-434_644-431del
  • NM_001408472.1:c.788-434_788-431del
  • NM_001408473.1:c.785-434_785-431del
  • NM_001408474.1:c.587-434_587-431del
  • NM_001408475.1:c.584-434_584-431del
  • NM_001408476.1:c.587-434_587-431del
  • NM_001408478.1:c.578-434_578-431del
  • NM_001408479.1:c.578-434_578-431del
  • NM_001408480.1:c.578-434_578-431del
  • NM_001408481.1:c.578-434_578-431del
  • NM_001408482.1:c.578-434_578-431del
  • NM_001408483.1:c.578-434_578-431del
  • NM_001408484.1:c.578-434_578-431del
  • NM_001408485.1:c.578-434_578-431del
  • NM_001408489.1:c.578-434_578-431del
  • NM_001408490.1:c.575-434_575-431del
  • NM_001408491.1:c.575-434_575-431del
  • NM_001408492.1:c.578-434_578-431del
  • NM_001408493.1:c.575-434_575-431del
  • NM_001408494.1:c.548-434_548-431del
  • NM_001408495.1:c.545-434_545-431del
  • NM_001408496.1:c.524-434_524-431del
  • NM_001408497.1:c.524-434_524-431del
  • NM_001408498.1:c.524-434_524-431del
  • NM_001408499.1:c.524-434_524-431del
  • NM_001408500.1:c.524-434_524-431del
  • NM_001408501.1:c.524-434_524-431del
  • NM_001408502.1:c.455-434_455-431del
  • NM_001408503.1:c.521-434_521-431del
  • NM_001408504.1:c.521-434_521-431del
  • NM_001408505.1:c.521-434_521-431del
  • NM_001408506.1:c.461-434_461-431del
  • NM_001408507.1:c.461-434_461-431del
  • NM_001408508.1:c.452-434_452-431del
  • NM_001408509.1:c.452-434_452-431del
  • NM_001408510.1:c.407-434_407-431del
  • NM_001408511.1:c.404-434_404-431del
  • NM_001408512.1:c.284-434_284-431del
  • NM_001408513.1:c.578-434_578-431del
  • NM_001408514.1:c.578-434_578-431del
  • NM_007294.4:c.4065_4068delMANE SELECT
  • NM_007297.4:c.3924_3927del
  • NM_007298.4:c.788-434_788-431del
  • NM_007299.4:c.788-434_788-431del
  • NM_007300.4:c.4065_4068del
  • NP_001394500.1:p.Asn1284fs
  • NP_001394510.1:p.Asn1355fs
  • NP_001394511.1:p.Asn1355fs
  • NP_001394512.1:p.Asn1355fs
  • NP_001394514.1:p.Asn1355fs
  • NP_001394516.1:p.Asn1354fs
  • NP_001394519.1:p.Asn1354fs
  • NP_001394520.1:p.Asn1354fs
  • NP_001394522.1:p.Asn1355fs
  • NP_001394523.1:p.Asn1355fs
  • NP_001394525.1:p.Asn1355fs
  • NP_001394526.1:p.Asn1355fs
  • NP_001394527.1:p.Asn1355fs
  • NP_001394531.1:p.Asn1355fs
  • NP_001394532.1:p.Asn1355fs
  • NP_001394534.1:p.Asn1355fs
  • NP_001394539.1:p.Asn1354fs
  • NP_001394540.1:p.Asn1354fs
  • NP_001394541.1:p.Asn1354fs
  • NP_001394542.1:p.Asn1354fs
  • NP_001394543.1:p.Asn1354fs
  • NP_001394544.1:p.Asn1354fs
  • NP_001394545.1:p.Asn1355fs
  • NP_001394546.1:p.Asn1355fs
  • NP_001394547.1:p.Asn1355fs
  • NP_001394548.1:p.Asn1355fs
  • NP_001394549.1:p.Asn1355fs
  • NP_001394550.1:p.Asn1355fs
  • NP_001394551.1:p.Asn1355fs
  • NP_001394552.1:p.Asn1355fs
  • NP_001394553.1:p.Asn1355fs
  • NP_001394554.1:p.Asn1355fs
  • NP_001394555.1:p.Asn1355fs
  • NP_001394556.1:p.Asn1354fs
  • NP_001394557.1:p.Asn1354fs
  • NP_001394558.1:p.Asn1354fs
  • NP_001394559.1:p.Asn1354fs
  • NP_001394560.1:p.Asn1354fs
  • NP_001394561.1:p.Asn1354fs
  • NP_001394562.1:p.Asn1354fs
  • NP_001394563.1:p.Asn1354fs
  • NP_001394564.1:p.Asn1354fs
  • NP_001394565.1:p.Asn1354fs
  • NP_001394566.1:p.Asn1354fs
  • NP_001394567.1:p.Asn1354fs
  • NP_001394568.1:p.Asn1355fs
  • NP_001394569.1:p.Asn1355fs
  • NP_001394570.1:p.Asn1355fs
  • NP_001394571.1:p.Asn1355fs
  • NP_001394573.1:p.Asn1354fs
  • NP_001394574.1:p.Asn1354fs
  • NP_001394575.1:p.Asn1352fs
  • NP_001394576.1:p.Asn1352fs
  • NP_001394577.1:p.Asn1314fs
  • NP_001394578.1:p.Asn1313fs
  • NP_001394581.1:p.Asn1355fs
  • NP_001394582.1:p.Asn1329fs
  • NP_001394583.1:p.Asn1329fs
  • NP_001394584.1:p.Asn1329fs
  • NP_001394585.1:p.Asn1329fs
  • NP_001394586.1:p.Asn1329fs
  • NP_001394587.1:p.Asn1329fs
  • NP_001394588.1:p.Asn1328fs
  • NP_001394589.1:p.Asn1328fs
  • NP_001394590.1:p.Asn1328fs
  • NP_001394591.1:p.Asn1328fs
  • NP_001394592.1:p.Asn1329fs
  • NP_001394593.1:p.Asn1314fs
  • NP_001394594.1:p.Asn1314fs
  • NP_001394595.1:p.Asn1314fs
  • NP_001394596.1:p.Asn1314fs
  • NP_001394597.1:p.Asn1314fs
  • NP_001394598.1:p.Asn1314fs
  • NP_001394599.1:p.Asn1313fs
  • NP_001394600.1:p.Asn1313fs
  • NP_001394601.1:p.Asn1313fs
  • NP_001394602.1:p.Asn1313fs
  • NP_001394603.1:p.Asn1314fs
  • NP_001394604.1:p.Asn1314fs
  • NP_001394605.1:p.Asn1314fs
  • NP_001394606.1:p.Asn1314fs
  • NP_001394607.1:p.Asn1314fs
  • NP_001394608.1:p.Asn1314fs
  • NP_001394609.1:p.Asn1314fs
  • NP_001394610.1:p.Asn1314fs
  • NP_001394611.1:p.Asn1314fs
  • NP_001394612.1:p.Asn1314fs
  • NP_001394613.1:p.Asn1355fs
  • NP_001394614.1:p.Asn1313fs
  • NP_001394615.1:p.Asn1313fs
  • NP_001394616.1:p.Asn1313fs
  • NP_001394617.1:p.Asn1313fs
  • NP_001394618.1:p.Asn1313fs
  • NP_001394619.1:p.Asn1313fs
  • NP_001394620.1:p.Asn1313fs
  • NP_001394621.1:p.Asn1308fs
  • NP_001394623.1:p.Asn1308fs
  • NP_001394624.1:p.Asn1308fs
  • NP_001394625.1:p.Asn1308fs
  • NP_001394626.1:p.Asn1308fs
  • NP_001394627.1:p.Asn1308fs
  • NP_001394653.1:p.Asn1308fs
  • NP_001394654.1:p.Asn1308fs
  • NP_001394655.1:p.Asn1308fs
  • NP_001394656.1:p.Asn1308fs
  • NP_001394657.1:p.Asn1308fs
  • NP_001394658.1:p.Asn1308fs
  • NP_001394659.1:p.Asn1308fs
  • NP_001394660.1:p.Asn1308fs
  • NP_001394661.1:p.Asn1308fs
  • NP_001394662.1:p.Asn1308fs
  • NP_001394663.1:p.Asn1308fs
  • NP_001394664.1:p.Asn1308fs
  • NP_001394665.1:p.Asn1308fs
  • NP_001394666.1:p.Asn1308fs
  • NP_001394667.1:p.Asn1308fs
  • NP_001394668.1:p.Asn1308fs
  • NP_001394669.1:p.Asn1307fs
  • NP_001394670.1:p.Asn1307fs
  • NP_001394671.1:p.Asn1307fs
  • NP_001394672.1:p.Asn1307fs
  • NP_001394673.1:p.Asn1307fs
  • NP_001394674.1:p.Asn1307fs
  • NP_001394675.1:p.Asn1307fs
  • NP_001394676.1:p.Asn1307fs
  • NP_001394677.1:p.Asn1307fs
  • NP_001394678.1:p.Asn1307fs
  • NP_001394679.1:p.Asn1308fs
  • NP_001394680.1:p.Asn1308fs
  • NP_001394681.1:p.Asn1308fs
  • NP_001394767.1:p.Asn1307fs
  • NP_001394768.1:p.Asn1307fs
  • NP_001394770.1:p.Asn1307fs
  • NP_001394771.1:p.Asn1307fs
  • NP_001394772.1:p.Asn1307fs
  • NP_001394773.1:p.Asn1307fs
  • NP_001394774.1:p.Asn1307fs
  • NP_001394775.1:p.Asn1307fs
  • NP_001394776.1:p.Asn1307fs
  • NP_001394777.1:p.Asn1307fs
  • NP_001394778.1:p.Asn1307fs
  • NP_001394779.1:p.Asn1308fs
  • NP_001394780.1:p.Asn1308fs
  • NP_001394781.1:p.Asn1308fs
  • NP_001394782.1:p.Asn1284fs
  • NP_001394783.1:p.Asn1355fs
  • NP_001394787.1:p.Asn1355fs
  • NP_001394788.1:p.Asn1355fs
  • NP_001394789.1:p.Asn1354fs
  • NP_001394790.1:p.Asn1354fs
  • NP_001394791.1:p.Asn1288fs
  • NP_001394792.1:p.Asn1314fs
  • NP_001394803.1:p.Asn1287fs
  • NP_001394804.1:p.Asn1287fs
  • NP_001394808.1:p.Asn1285fs
  • NP_001394810.1:p.Asn1285fs
  • NP_001394811.1:p.Asn1285fs
  • NP_001394813.1:p.Asn1285fs
  • NP_001394814.1:p.Asn1285fs
  • NP_001394815.1:p.Asn1285fs
  • NP_001394816.1:p.Asn1285fs
  • NP_001394818.1:p.Asn1285fs
  • NP_001394823.1:p.Asn1284fs
  • NP_001394824.1:p.Asn1284fs
  • NP_001394825.1:p.Asn1284fs
  • NP_001394826.1:p.Asn1284fs
  • NP_001394827.1:p.Asn1284fs
  • NP_001394828.1:p.Asn1284fs
  • NP_001394829.1:p.Asn1285fs
  • NP_001394831.1:p.Asn1285fs
  • NP_001394833.1:p.Asn1285fs
  • NP_001394835.1:p.Asn1285fs
  • NP_001394836.1:p.Asn1285fs
  • NP_001394837.1:p.Asn1285fs
  • NP_001394838.1:p.Asn1285fs
  • NP_001394839.1:p.Asn1285fs
  • NP_001394844.1:p.Asn1284fs
  • NP_001394845.1:p.Asn1284fs
  • NP_001394846.1:p.Asn1284fs
  • NP_001394847.1:p.Asn1284fs
  • NP_001394848.1:p.Asn1314fs
  • NP_001394849.1:p.Asn1267fs
  • NP_001394850.1:p.Asn1267fs
  • NP_001394851.1:p.Asn1267fs
  • NP_001394852.1:p.Asn1267fs
  • NP_001394853.1:p.Asn1267fs
  • NP_001394854.1:p.Asn1267fs
  • NP_001394855.1:p.Asn1267fs
  • NP_001394856.1:p.Asn1267fs
  • NP_001394857.1:p.Asn1267fs
  • NP_001394858.1:p.Asn1267fs
  • NP_001394859.1:p.Asn1266fs
  • NP_001394860.1:p.Asn1266fs
  • NP_001394861.1:p.Asn1266fs
  • NP_001394862.1:p.Asn1267fs
  • NP_001394863.1:p.Asn1266fs
  • NP_001394864.1:p.Asn1267fs
  • NP_001394865.1:p.Asn1266fs
  • NP_001394866.1:p.Asn1314fs
  • NP_001394867.1:p.Asn1314fs
  • NP_001394868.1:p.Asn1314fs
  • NP_001394869.1:p.Asn1313fs
  • NP_001394870.1:p.Asn1313fs
  • NP_001394871.1:p.Asn1308fs
  • NP_001394872.1:p.Asn1307fs
  • NP_001394873.1:p.Asn1308fs
  • NP_001394874.1:p.Asn1308fs
  • NP_001394875.1:p.Asn1244fs
  • NP_001394876.1:p.Asn1244fs
  • NP_001394877.1:p.Asn1244fs
  • NP_001394878.1:p.Asn1244fs
  • NP_001394879.1:p.Asn1244fs
  • NP_001394880.1:p.Asn1244fs
  • NP_001394881.1:p.Asn1244fs
  • NP_001394882.1:p.Asn1244fs
  • NP_001394883.1:p.Asn1243fs
  • NP_001394884.1:p.Asn1243fs
  • NP_001394885.1:p.Asn1243fs
  • NP_001394886.1:p.Asn1244fs
  • NP_001394887.1:p.Asn1243fs
  • NP_001394888.1:p.Asn1228fs
  • NP_001394889.1:p.Asn1228fs
  • NP_001394891.1:p.Asn1227fs
  • NP_001394892.1:p.Asn1228fs
  • NP_001394893.1:p.Asn1307fs
  • NP_001394894.1:p.Asn1187fs
  • NP_001394895.1:p.Asn1059fs
  • NP_001394896.1:p.Asn1059fs
  • NP_001394897.1:p.Asn487fs
  • NP_001394898.1:p.Asn487fs
  • NP_009225.1:p.Asn1355Lysfs
  • NP_009225.1:p.Asn1355fs
  • NP_009228.2:p.Asn1308fs
  • NP_009231.2:p.Asn1355fs
  • LRG_292t1:c.4063_4066del
  • LRG_292:g.126518_126521del
  • LRG_292p1:p.Asn1355Lysfs
  • NC_000017.10:g.41243480_41243483delTTGA
  • NC_000017.10:g.41243482_41243485del
  • NC_000017.10:g.41243482_41243485del
  • NC_000017.11:g.43091463_43091466delTTGA
  • NM_007294.3:c.4063_4066delAATC
  • NM_007294.3:c.4065_4068delTCAA
  • NM_007294.4:c.4065_4068delTCAA
  • NM_007300.3:c.4065_4068delTCAA
  • NR_027676.1:n.4199_4202delAATC
  • U14680.1:c.4065_4068del
  • U14680.1:n.4184_4187delTCAA
  • p.Asn1355Lysfs*10
  • p.Asn1355LysfsX10
  • p.N1355KFS*10
  • p.N1355KfsX10
Nucleotide change:
4184del4
Protein change:
N1059fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 4184&base_change=del TCAA; OMIM: 113705.0015; dbSNP: rs80357508
NCBI 1000 Genomes Browser:
rs80357508
Molecular consequence:
  • NM_001407571.1:c.3852_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.4056_4059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.4056_4059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.3987_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.3987_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.3987_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.3987_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.3987_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.3987_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.3984_3987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.3984_3987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.3984_3987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.3984_3987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.3987_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.3852_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.4062_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.3864_3867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.3861_3864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.3861_3864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.3852_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.3852_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.3852_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.3852_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.3852_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.3852_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.3855_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.3852_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.3852_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.3852_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.3852_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.3801_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.3801_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.3801_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.3801_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.3801_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.3801_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.3801_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.3801_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.3801_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.3801_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.3798_3801del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.3798_3801del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.3798_3801del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.3801_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.3798_3801del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.3801_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.3798_3801del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.3942_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.3939_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.3732_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.3732_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.3732_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.3732_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.3732_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.3732_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.3732_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.3732_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.3729_3732del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.3729_3732del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.3729_3732del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.3732_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.3729_3732del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.3684_3687del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.3684_3687del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.3681_3684del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.3684_3687del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.3921_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.3561_3564del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.3177_3180del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.3177_3180del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.1461_1464del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.1461_1464del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.4065_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-443_791-440del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-434_779-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-434_710-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-434_710-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-434_710-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-434_707-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-434_710-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-434_710-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-434_707-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-434_671-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-434_671-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-434_671-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-434_668-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-434_671-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-434_671-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-434_668-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-434_668-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-434_662-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-434_662-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-434_662-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-434_662-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-434_665-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-434_662-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-434_662-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-434_662-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-434_662-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-434_662-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-434_653-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-434_644-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-434_644-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-434_644-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-434_644-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-434_644-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-434_647-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-434_644-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-434_785-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-434_587-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-434_584-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-434_587-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-434_578-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-434_578-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-434_578-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-434_578-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-434_578-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-434_578-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-434_578-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-434_578-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-434_578-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-434_575-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-434_575-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-434_578-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-434_575-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-434_548-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-434_545-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-434_524-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-434_524-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-434_524-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-434_524-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-434_524-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-434_524-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-434_455-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-434_521-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-434_521-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-434_521-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-434_461-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-434_461-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-434_452-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-434_452-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-434_407-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-434_404-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-434_284-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-434_578-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-434_578-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-434_788-431del - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
functional variant [Sequence Ontology: SO:0001536]
Observations:
1

Condition(s)

Name:
Breast and/or ovarian cancer
Identifiers:
MedGen: CN221562

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000863590Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Pathogenic
(Jul 8, 2010) 		germlineclinical testing

SCV001451833CZECANCA consortium
no assertion criteria provided
Pathogenic
(Jun 11, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002043443CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 25, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
Slavicgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, et al.

Cancers (Basel). 2020 Apr 13;12(4). doi:pii: E956. 10.3390/cancers12040956.

PubMed [citation]
PMID:
32295079
PMCID:
PMC7226062

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR), SCV000863590.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CZECANCA consortium, SCV001451833.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Slavic1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV002043443.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024