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NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 14, 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:
RCV000131887.20

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]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000186942Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 28, 2022) 		germlineclinical testing

PubMed (14)
[See all records that cite these PMIDs]

Citation Link,

SCV000683147Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 14, 2023) 		germlineclinical testing

PubMed (20)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure.

Spitzer E, Abbaszadegan MR, Schmidt F, Hauser A, Buwitt U, Lauter FR, Pötschick K, Krocker J, Elling D, Grosse R.

Int J Cancer. 2000 Feb 15;85(4):474-81.

PubMed [citation]
PMID:
10699917

Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

Cunningham JM, Cicek MS, Larson NB, Davila J, Wang C, Larson MC, Song H, Dicks EM, Harrington P, Wick M, Winterhoff BJ, Hamidi H, Konecny GE, Chien J, Bibikova M, Fan JB, Kalli KR, Lindor NM, Fridley BL, Pharoah PP, Goode EL.

Sci Rep. 2014 Feb 7;4:4026. doi: 10.1038/srep04026.

PubMed [citation]
PMID:
24504028
PMCID:
PMC4168524
See all PubMed Citations (23)

Details of each submission

From Ambry Genetics, SCV000186942.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (14)

Description

The c.4065_4068delTCAA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 4065 to 4068, causing a translational frameshift with a predicted alternate stop codon (p.N1355Kfs*10). This alteration has been reported in multiple families with hereditary breast and ovarian cancer from a variety of ethnic backgrounds (Shattuck-Eidens D et al. JAMA. 1995 Feb;273:535-41; Langston AA et al. N. Engl. J. Med. 1996 Jan;334:137-42; Spitzer E et al. Int. J. Cancer. 2000 Feb;85:474-81; Ahn SH et al. Cancer Lett. 2007 Jan;245:90-5; Cunningham J et al. Sci. Rep. 2014 Feb;4:4026; Rashid MU et al. BMC Cancer. 2016 Aug;16:673; Li JY et al. Int. J. Cancer 2019 Jan;144(2):281-289; Siraj AK et al. Hum. Mutat. 2019 Mar). This mutation was also identified in an individual from a cohort of 191 prostate cancer patients with at least three prostate cancer cases in their families; this individual's family was also noted to be affected with breast and colon cancer (Leongamornlet D et al. Br. J. Cancer. 2014 Mar;110:1663-72). Of note, this alteration is also designated as 4184del4 in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Color Diagnostics, LLC DBA Color Health, SCV000683147.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (20)

Description

This variant deletes 4 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This is a recurrent variant detected in hereditary breast and ovarian cancer families worldwide and has been reported in at least 30 individuals affected with breast and/or ovarian cancer (PMID: 7894493, 8531967, 17018160, 16455195, 20104584, 21324516, 21559243, 23175448, 23633455, 27553291, 28724667, 28831036, 28993434, 29470806, 30078507, 29752822, 30825404, 33471991; Leiden Open Variation Database DB-ID BRCA1_000288) and an individual affected with prostate cancer (PMID: 24556621). This variant has been identified in 3/250844 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024