U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 8, 2016
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:
RCV000508668.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs)]

NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs)
HGVS:
  • NC_000017.11:g.43091768dup
  • NG_005905.2:g.126217dup
  • NG_087068.1:g.750dup
  • NM_001407571.1:c.3551dup
  • NM_001407581.1:c.3764dup
  • NM_001407582.1:c.3764dup
  • NM_001407583.1:c.3764dup
  • NM_001407585.1:c.3764dup
  • NM_001407587.1:c.3761dup
  • NM_001407590.1:c.3761dup
  • NM_001407591.1:c.3761dup
  • NM_001407593.1:c.3764dup
  • NM_001407594.1:c.3764dup
  • NM_001407596.1:c.3764dup
  • NM_001407597.1:c.3764dup
  • NM_001407598.1:c.3764dup
  • NM_001407602.1:c.3764dup
  • NM_001407603.1:c.3764dup
  • NM_001407605.1:c.3764dup
  • NM_001407610.1:c.3761dup
  • NM_001407611.1:c.3761dup
  • NM_001407612.1:c.3761dup
  • NM_001407613.1:c.3761dup
  • NM_001407614.1:c.3761dup
  • NM_001407615.1:c.3761dup
  • NM_001407616.1:c.3764dup
  • NM_001407617.1:c.3764dup
  • NM_001407618.1:c.3764dup
  • NM_001407619.1:c.3764dup
  • NM_001407620.1:c.3764dup
  • NM_001407621.1:c.3764dup
  • NM_001407622.1:c.3764dup
  • NM_001407623.1:c.3764dup
  • NM_001407624.1:c.3764dup
  • NM_001407625.1:c.3764dup
  • NM_001407626.1:c.3764dup
  • NM_001407627.1:c.3761dup
  • NM_001407628.1:c.3761dup
  • NM_001407629.1:c.3761dup
  • NM_001407630.1:c.3761dup
  • NM_001407631.1:c.3761dup
  • NM_001407632.1:c.3761dup
  • NM_001407633.1:c.3761dup
  • NM_001407634.1:c.3761dup
  • NM_001407635.1:c.3761dup
  • NM_001407636.1:c.3761dup
  • NM_001407637.1:c.3761dup
  • NM_001407638.1:c.3761dup
  • NM_001407639.1:c.3764dup
  • NM_001407640.1:c.3764dup
  • NM_001407641.1:c.3764dup
  • NM_001407642.1:c.3764dup
  • NM_001407644.1:c.3761dup
  • NM_001407645.1:c.3761dup
  • NM_001407646.1:c.3755dup
  • NM_001407647.1:c.3755dup
  • NM_001407648.1:c.3641dup
  • NM_001407649.1:c.3638dup
  • NM_001407652.1:c.3764dup
  • NM_001407653.1:c.3686dup
  • NM_001407654.1:c.3686dup
  • NM_001407655.1:c.3686dup
  • NM_001407656.1:c.3686dup
  • NM_001407657.1:c.3686dup
  • NM_001407658.1:c.3686dup
  • NM_001407659.1:c.3683dup
  • NM_001407660.1:c.3683dup
  • NM_001407661.1:c.3683dup
  • NM_001407662.1:c.3683dup
  • NM_001407663.1:c.3686dup
  • NM_001407664.1:c.3641dup
  • NM_001407665.1:c.3641dup
  • NM_001407666.1:c.3641dup
  • NM_001407667.1:c.3641dup
  • NM_001407668.1:c.3641dup
  • NM_001407669.1:c.3641dup
  • NM_001407670.1:c.3638dup
  • NM_001407671.1:c.3638dup
  • NM_001407672.1:c.3638dup
  • NM_001407673.1:c.3638dup
  • NM_001407674.1:c.3641dup
  • NM_001407675.1:c.3641dup
  • NM_001407676.1:c.3641dup
  • NM_001407677.1:c.3641dup
  • NM_001407678.1:c.3641dup
  • NM_001407679.1:c.3641dup
  • NM_001407680.1:c.3641dup
  • NM_001407681.1:c.3641dup
  • NM_001407682.1:c.3641dup
  • NM_001407683.1:c.3641dup
  • NM_001407684.1:c.3764dup
  • NM_001407685.1:c.3638dup
  • NM_001407686.1:c.3638dup
  • NM_001407687.1:c.3638dup
  • NM_001407688.1:c.3638dup
  • NM_001407689.1:c.3638dup
  • NM_001407690.1:c.3638dup
  • NM_001407691.1:c.3638dup
  • NM_001407692.1:c.3623dup
  • NM_001407694.1:c.3623dup
  • NM_001407695.1:c.3623dup
  • NM_001407696.1:c.3623dup
  • NM_001407697.1:c.3623dup
  • NM_001407698.1:c.3623dup
  • NM_001407724.1:c.3623dup
  • NM_001407725.1:c.3623dup
  • NM_001407726.1:c.3623dup
  • NM_001407727.1:c.3623dup
  • NM_001407728.1:c.3623dup
  • NM_001407729.1:c.3623dup
  • NM_001407730.1:c.3623dup
  • NM_001407731.1:c.3623dup
  • NM_001407732.1:c.3623dup
  • NM_001407733.1:c.3623dup
  • NM_001407734.1:c.3623dup
  • NM_001407735.1:c.3623dup
  • NM_001407736.1:c.3623dup
  • NM_001407737.1:c.3623dup
  • NM_001407738.1:c.3623dup
  • NM_001407739.1:c.3623dup
  • NM_001407740.1:c.3620dup
  • NM_001407741.1:c.3620dup
  • NM_001407742.1:c.3620dup
  • NM_001407743.1:c.3620dup
  • NM_001407744.1:c.3620dup
  • NM_001407745.1:c.3620dup
  • NM_001407746.1:c.3620dup
  • NM_001407747.1:c.3620dup
  • NM_001407748.1:c.3620dup
  • NM_001407749.1:c.3620dup
  • NM_001407750.1:c.3623dup
  • NM_001407751.1:c.3623dup
  • NM_001407752.1:c.3623dup
  • NM_001407838.1:c.3620dup
  • NM_001407839.1:c.3620dup
  • NM_001407841.1:c.3620dup
  • NM_001407842.1:c.3620dup
  • NM_001407843.1:c.3620dup
  • NM_001407844.1:c.3620dup
  • NM_001407845.1:c.3620dup
  • NM_001407846.1:c.3620dup
  • NM_001407847.1:c.3620dup
  • NM_001407848.1:c.3620dup
  • NM_001407849.1:c.3620dup
  • NM_001407850.1:c.3623dup
  • NM_001407851.1:c.3623dup
  • NM_001407852.1:c.3623dup
  • NM_001407853.1:c.3551dup
  • NM_001407854.1:c.3764dup
  • NM_001407858.1:c.3764dup
  • NM_001407859.1:c.3764dup
  • NM_001407860.1:c.3761dup
  • NM_001407861.1:c.3761dup
  • NM_001407862.1:c.3563dup
  • NM_001407863.1:c.3641dup
  • NM_001407874.1:c.3560dup
  • NM_001407875.1:c.3560dup
  • NM_001407879.1:c.3554dup
  • NM_001407881.1:c.3554dup
  • NM_001407882.1:c.3554dup
  • NM_001407884.1:c.3554dup
  • NM_001407885.1:c.3554dup
  • NM_001407886.1:c.3554dup
  • NM_001407887.1:c.3554dup
  • NM_001407889.1:c.3554dup
  • NM_001407894.1:c.3551dup
  • NM_001407895.1:c.3551dup
  • NM_001407896.1:c.3551dup
  • NM_001407897.1:c.3551dup
  • NM_001407898.1:c.3551dup
  • NM_001407899.1:c.3551dup
  • NM_001407900.1:c.3554dup
  • NM_001407902.1:c.3554dup
  • NM_001407904.1:c.3554dup
  • NM_001407906.1:c.3554dup
  • NM_001407907.1:c.3554dup
  • NM_001407908.1:c.3554dup
  • NM_001407909.1:c.3554dup
  • NM_001407910.1:c.3554dup
  • NM_001407915.1:c.3551dup
  • NM_001407916.1:c.3551dup
  • NM_001407917.1:c.3551dup
  • NM_001407918.1:c.3551dup
  • NM_001407919.1:c.3641dup
  • NM_001407920.1:c.3500dup
  • NM_001407921.1:c.3500dup
  • NM_001407922.1:c.3500dup
  • NM_001407923.1:c.3500dup
  • NM_001407924.1:c.3500dup
  • NM_001407925.1:c.3500dup
  • NM_001407926.1:c.3500dup
  • NM_001407927.1:c.3500dup
  • NM_001407928.1:c.3500dup
  • NM_001407929.1:c.3500dup
  • NM_001407930.1:c.3497dup
  • NM_001407931.1:c.3497dup
  • NM_001407932.1:c.3497dup
  • NM_001407933.1:c.3500dup
  • NM_001407934.1:c.3497dup
  • NM_001407935.1:c.3500dup
  • NM_001407936.1:c.3497dup
  • NM_001407937.1:c.3641dup
  • NM_001407938.1:c.3641dup
  • NM_001407939.1:c.3641dup
  • NM_001407940.1:c.3638dup
  • NM_001407941.1:c.3638dup
  • NM_001407942.1:c.3623dup
  • NM_001407943.1:c.3620dup
  • NM_001407944.1:c.3623dup
  • NM_001407945.1:c.3623dup
  • NM_001407946.1:c.3431dup
  • NM_001407947.1:c.3431dup
  • NM_001407948.1:c.3431dup
  • NM_001407949.1:c.3431dup
  • NM_001407950.1:c.3431dup
  • NM_001407951.1:c.3431dup
  • NM_001407952.1:c.3431dup
  • NM_001407953.1:c.3431dup
  • NM_001407954.1:c.3428dup
  • NM_001407955.1:c.3428dup
  • NM_001407956.1:c.3428dup
  • NM_001407957.1:c.3431dup
  • NM_001407958.1:c.3428dup
  • NM_001407959.1:c.3383dup
  • NM_001407960.1:c.3383dup
  • NM_001407962.1:c.3380dup
  • NM_001407963.1:c.3383dup
  • NM_001407964.1:c.3620dup
  • NM_001407965.1:c.3260dup
  • NM_001407966.1:c.2876dup
  • NM_001407967.1:c.2876dup
  • NM_001407968.1:c.1160dup
  • NM_001407969.1:c.1160dup
  • NM_001407970.1:c.788-735dup
  • NM_001407971.1:c.788-735dup
  • NM_001407972.1:c.785-735dup
  • NM_001407973.1:c.788-735dup
  • NM_001407974.1:c.788-735dup
  • NM_001407975.1:c.788-735dup
  • NM_001407976.1:c.788-735dup
  • NM_001407977.1:c.788-735dup
  • NM_001407978.1:c.788-735dup
  • NM_001407979.1:c.788-735dup
  • NM_001407980.1:c.788-735dup
  • NM_001407981.1:c.788-735dup
  • NM_001407982.1:c.788-735dup
  • NM_001407983.1:c.788-735dup
  • NM_001407984.1:c.785-735dup
  • NM_001407985.1:c.785-735dup
  • NM_001407986.1:c.785-735dup
  • NM_001407990.1:c.788-735dup
  • NM_001407991.1:c.785-735dup
  • NM_001407992.1:c.785-735dup
  • NM_001407993.1:c.788-735dup
  • NM_001408392.1:c.785-735dup
  • NM_001408396.1:c.785-735dup
  • NM_001408397.1:c.785-735dup
  • NM_001408398.1:c.785-735dup
  • NM_001408399.1:c.785-735dup
  • NM_001408400.1:c.785-735dup
  • NM_001408401.1:c.785-735dup
  • NM_001408402.1:c.785-735dup
  • NM_001408403.1:c.788-735dup
  • NM_001408404.1:c.788-735dup
  • NM_001408406.1:c.791-744dup
  • NM_001408407.1:c.785-735dup
  • NM_001408408.1:c.779-735dup
  • NM_001408409.1:c.710-735dup
  • NM_001408410.1:c.647-735dup
  • NM_001408411.1:c.710-735dup
  • NM_001408412.1:c.710-735dup
  • NM_001408413.1:c.707-735dup
  • NM_001408414.1:c.710-735dup
  • NM_001408415.1:c.710-735dup
  • NM_001408416.1:c.707-735dup
  • NM_001408418.1:c.671-735dup
  • NM_001408419.1:c.671-735dup
  • NM_001408420.1:c.671-735dup
  • NM_001408421.1:c.668-735dup
  • NM_001408422.1:c.671-735dup
  • NM_001408423.1:c.671-735dup
  • NM_001408424.1:c.668-735dup
  • NM_001408425.1:c.665-735dup
  • NM_001408426.1:c.665-735dup
  • NM_001408427.1:c.665-735dup
  • NM_001408428.1:c.665-735dup
  • NM_001408429.1:c.665-735dup
  • NM_001408430.1:c.665-735dup
  • NM_001408431.1:c.668-735dup
  • NM_001408432.1:c.662-735dup
  • NM_001408433.1:c.662-735dup
  • NM_001408434.1:c.662-735dup
  • NM_001408435.1:c.662-735dup
  • NM_001408436.1:c.665-735dup
  • NM_001408437.1:c.665-735dup
  • NM_001408438.1:c.665-735dup
  • NM_001408439.1:c.665-735dup
  • NM_001408440.1:c.665-735dup
  • NM_001408441.1:c.665-735dup
  • NM_001408442.1:c.665-735dup
  • NM_001408443.1:c.665-735dup
  • NM_001408444.1:c.665-735dup
  • NM_001408445.1:c.662-735dup
  • NM_001408446.1:c.662-735dup
  • NM_001408447.1:c.662-735dup
  • NM_001408448.1:c.662-735dup
  • NM_001408450.1:c.662-735dup
  • NM_001408451.1:c.653-735dup
  • NM_001408452.1:c.647-735dup
  • NM_001408453.1:c.647-735dup
  • NM_001408454.1:c.647-735dup
  • NM_001408455.1:c.647-735dup
  • NM_001408456.1:c.647-735dup
  • NM_001408457.1:c.647-735dup
  • NM_001408458.1:c.647-735dup
  • NM_001408459.1:c.647-735dup
  • NM_001408460.1:c.647-735dup
  • NM_001408461.1:c.647-735dup
  • NM_001408462.1:c.644-735dup
  • NM_001408463.1:c.644-735dup
  • NM_001408464.1:c.644-735dup
  • NM_001408465.1:c.644-735dup
  • NM_001408466.1:c.647-735dup
  • NM_001408467.1:c.647-735dup
  • NM_001408468.1:c.644-735dup
  • NM_001408469.1:c.647-735dup
  • NM_001408470.1:c.644-735dup
  • NM_001408472.1:c.788-735dup
  • NM_001408473.1:c.785-735dup
  • NM_001408474.1:c.587-735dup
  • NM_001408475.1:c.584-735dup
  • NM_001408476.1:c.587-735dup
  • NM_001408478.1:c.578-735dup
  • NM_001408479.1:c.578-735dup
  • NM_001408480.1:c.578-735dup
  • NM_001408481.1:c.578-735dup
  • NM_001408482.1:c.578-735dup
  • NM_001408483.1:c.578-735dup
  • NM_001408484.1:c.578-735dup
  • NM_001408485.1:c.578-735dup
  • NM_001408489.1:c.578-735dup
  • NM_001408490.1:c.575-735dup
  • NM_001408491.1:c.575-735dup
  • NM_001408492.1:c.578-735dup
  • NM_001408493.1:c.575-735dup
  • NM_001408494.1:c.548-735dup
  • NM_001408495.1:c.545-735dup
  • NM_001408496.1:c.524-735dup
  • NM_001408497.1:c.524-735dup
  • NM_001408498.1:c.524-735dup
  • NM_001408499.1:c.524-735dup
  • NM_001408500.1:c.524-735dup
  • NM_001408501.1:c.524-735dup
  • NM_001408502.1:c.455-735dup
  • NM_001408503.1:c.521-735dup
  • NM_001408504.1:c.521-735dup
  • NM_001408505.1:c.521-735dup
  • NM_001408506.1:c.461-735dup
  • NM_001408507.1:c.461-735dup
  • NM_001408508.1:c.452-735dup
  • NM_001408509.1:c.452-735dup
  • NM_001408510.1:c.407-735dup
  • NM_001408511.1:c.404-735dup
  • NM_001408512.1:c.284-735dup
  • NM_001408513.1:c.578-735dup
  • NM_001408514.1:c.578-735dup
  • NM_007294.4:c.3764dupMANE SELECT
  • NM_007297.4:c.3623dup
  • NM_007298.4:c.788-735dup
  • NM_007299.4:c.788-735dup
  • NM_007300.4:c.3764dup
  • NP_001394500.1:p.Asn1184fs
  • NP_001394510.1:p.Asn1255fs
  • NP_001394511.1:p.Asn1255fs
  • NP_001394512.1:p.Asn1255fs
  • NP_001394514.1:p.Asn1255fs
  • NP_001394516.1:p.Asn1254fs
  • NP_001394519.1:p.Asn1254fs
  • NP_001394520.1:p.Asn1254fs
  • NP_001394522.1:p.Asn1255fs
  • NP_001394523.1:p.Asn1255fs
  • NP_001394525.1:p.Asn1255fs
  • NP_001394526.1:p.Asn1255fs
  • NP_001394527.1:p.Asn1255fs
  • NP_001394531.1:p.Asn1255fs
  • NP_001394532.1:p.Asn1255fs
  • NP_001394534.1:p.Asn1255fs
  • NP_001394539.1:p.Asn1254fs
  • NP_001394540.1:p.Asn1254fs
  • NP_001394541.1:p.Asn1254fs
  • NP_001394542.1:p.Asn1254fs
  • NP_001394543.1:p.Asn1254fs
  • NP_001394544.1:p.Asn1254fs
  • NP_001394545.1:p.Asn1255fs
  • NP_001394546.1:p.Asn1255fs
  • NP_001394547.1:p.Asn1255fs
  • NP_001394548.1:p.Asn1255fs
  • NP_001394549.1:p.Asn1255fs
  • NP_001394550.1:p.Asn1255fs
  • NP_001394551.1:p.Asn1255fs
  • NP_001394552.1:p.Asn1255fs
  • NP_001394553.1:p.Asn1255fs
  • NP_001394554.1:p.Asn1255fs
  • NP_001394555.1:p.Asn1255fs
  • NP_001394556.1:p.Asn1254fs
  • NP_001394557.1:p.Asn1254fs
  • NP_001394558.1:p.Asn1254fs
  • NP_001394559.1:p.Asn1254fs
  • NP_001394560.1:p.Asn1254fs
  • NP_001394561.1:p.Asn1254fs
  • NP_001394562.1:p.Asn1254fs
  • NP_001394563.1:p.Asn1254fs
  • NP_001394564.1:p.Asn1254fs
  • NP_001394565.1:p.Asn1254fs
  • NP_001394566.1:p.Asn1254fs
  • NP_001394567.1:p.Asn1254fs
  • NP_001394568.1:p.Asn1255fs
  • NP_001394569.1:p.Asn1255fs
  • NP_001394570.1:p.Asn1255fs
  • NP_001394571.1:p.Asn1255fs
  • NP_001394573.1:p.Asn1254fs
  • NP_001394574.1:p.Asn1254fs
  • NP_001394575.1:p.Asn1252fs
  • NP_001394576.1:p.Asn1252fs
  • NP_001394577.1:p.Asn1214fs
  • NP_001394578.1:p.Asn1213fs
  • NP_001394581.1:p.Asn1255fs
  • NP_001394582.1:p.Asn1229fs
  • NP_001394583.1:p.Asn1229fs
  • NP_001394584.1:p.Asn1229fs
  • NP_001394585.1:p.Asn1229fs
  • NP_001394586.1:p.Asn1229fs
  • NP_001394587.1:p.Asn1229fs
  • NP_001394588.1:p.Asn1228fs
  • NP_001394589.1:p.Asn1228fs
  • NP_001394590.1:p.Asn1228fs
  • NP_001394591.1:p.Asn1228fs
  • NP_001394592.1:p.Asn1229fs
  • NP_001394593.1:p.Asn1214fs
  • NP_001394594.1:p.Asn1214fs
  • NP_001394595.1:p.Asn1214fs
  • NP_001394596.1:p.Asn1214fs
  • NP_001394597.1:p.Asn1214fs
  • NP_001394598.1:p.Asn1214fs
  • NP_001394599.1:p.Asn1213fs
  • NP_001394600.1:p.Asn1213fs
  • NP_001394601.1:p.Asn1213fs
  • NP_001394602.1:p.Asn1213fs
  • NP_001394603.1:p.Asn1214fs
  • NP_001394604.1:p.Asn1214fs
  • NP_001394605.1:p.Asn1214fs
  • NP_001394606.1:p.Asn1214fs
  • NP_001394607.1:p.Asn1214fs
  • NP_001394608.1:p.Asn1214fs
  • NP_001394609.1:p.Asn1214fs
  • NP_001394610.1:p.Asn1214fs
  • NP_001394611.1:p.Asn1214fs
  • NP_001394612.1:p.Asn1214fs
  • NP_001394613.1:p.Asn1255fs
  • NP_001394614.1:p.Asn1213fs
  • NP_001394615.1:p.Asn1213fs
  • NP_001394616.1:p.Asn1213fs
  • NP_001394617.1:p.Asn1213fs
  • NP_001394618.1:p.Asn1213fs
  • NP_001394619.1:p.Asn1213fs
  • NP_001394620.1:p.Asn1213fs
  • NP_001394621.1:p.Asn1208fs
  • NP_001394623.1:p.Asn1208fs
  • NP_001394624.1:p.Asn1208fs
  • NP_001394625.1:p.Asn1208fs
  • NP_001394626.1:p.Asn1208fs
  • NP_001394627.1:p.Asn1208fs
  • NP_001394653.1:p.Asn1208fs
  • NP_001394654.1:p.Asn1208fs
  • NP_001394655.1:p.Asn1208fs
  • NP_001394656.1:p.Asn1208fs
  • NP_001394657.1:p.Asn1208fs
  • NP_001394658.1:p.Asn1208fs
  • NP_001394659.1:p.Asn1208fs
  • NP_001394660.1:p.Asn1208fs
  • NP_001394661.1:p.Asn1208fs
  • NP_001394662.1:p.Asn1208fs
  • NP_001394663.1:p.Asn1208fs
  • NP_001394664.1:p.Asn1208fs
  • NP_001394665.1:p.Asn1208fs
  • NP_001394666.1:p.Asn1208fs
  • NP_001394667.1:p.Asn1208fs
  • NP_001394668.1:p.Asn1208fs
  • NP_001394669.1:p.Asn1207fs
  • NP_001394670.1:p.Asn1207fs
  • NP_001394671.1:p.Asn1207fs
  • NP_001394672.1:p.Asn1207fs
  • NP_001394673.1:p.Asn1207fs
  • NP_001394674.1:p.Asn1207fs
  • NP_001394675.1:p.Asn1207fs
  • NP_001394676.1:p.Asn1207fs
  • NP_001394677.1:p.Asn1207fs
  • NP_001394678.1:p.Asn1207fs
  • NP_001394679.1:p.Asn1208fs
  • NP_001394680.1:p.Asn1208fs
  • NP_001394681.1:p.Asn1208fs
  • NP_001394767.1:p.Asn1207fs
  • NP_001394768.1:p.Asn1207fs
  • NP_001394770.1:p.Asn1207fs
  • NP_001394771.1:p.Asn1207fs
  • NP_001394772.1:p.Asn1207fs
  • NP_001394773.1:p.Asn1207fs
  • NP_001394774.1:p.Asn1207fs
  • NP_001394775.1:p.Asn1207fs
  • NP_001394776.1:p.Asn1207fs
  • NP_001394777.1:p.Asn1207fs
  • NP_001394778.1:p.Asn1207fs
  • NP_001394779.1:p.Asn1208fs
  • NP_001394780.1:p.Asn1208fs
  • NP_001394781.1:p.Asn1208fs
  • NP_001394782.1:p.Asn1184fs
  • NP_001394783.1:p.Asn1255fs
  • NP_001394787.1:p.Asn1255fs
  • NP_001394788.1:p.Asn1255fs
  • NP_001394789.1:p.Asn1254fs
  • NP_001394790.1:p.Asn1254fs
  • NP_001394791.1:p.Asn1188fs
  • NP_001394792.1:p.Asn1214fs
  • NP_001394803.1:p.Asn1187fs
  • NP_001394804.1:p.Asn1187fs
  • NP_001394808.1:p.Asn1185fs
  • NP_001394810.1:p.Asn1185fs
  • NP_001394811.1:p.Asn1185fs
  • NP_001394813.1:p.Asn1185fs
  • NP_001394814.1:p.Asn1185fs
  • NP_001394815.1:p.Asn1185fs
  • NP_001394816.1:p.Asn1185fs
  • NP_001394818.1:p.Asn1185fs
  • NP_001394823.1:p.Asn1184fs
  • NP_001394824.1:p.Asn1184fs
  • NP_001394825.1:p.Asn1184fs
  • NP_001394826.1:p.Asn1184fs
  • NP_001394827.1:p.Asn1184fs
  • NP_001394828.1:p.Asn1184fs
  • NP_001394829.1:p.Asn1185fs
  • NP_001394831.1:p.Asn1185fs
  • NP_001394833.1:p.Asn1185fs
  • NP_001394835.1:p.Asn1185fs
  • NP_001394836.1:p.Asn1185fs
  • NP_001394837.1:p.Asn1185fs
  • NP_001394838.1:p.Asn1185fs
  • NP_001394839.1:p.Asn1185fs
  • NP_001394844.1:p.Asn1184fs
  • NP_001394845.1:p.Asn1184fs
  • NP_001394846.1:p.Asn1184fs
  • NP_001394847.1:p.Asn1184fs
  • NP_001394848.1:p.Asn1214fs
  • NP_001394849.1:p.Asn1167fs
  • NP_001394850.1:p.Asn1167fs
  • NP_001394851.1:p.Asn1167fs
  • NP_001394852.1:p.Asn1167fs
  • NP_001394853.1:p.Asn1167fs
  • NP_001394854.1:p.Asn1167fs
  • NP_001394855.1:p.Asn1167fs
  • NP_001394856.1:p.Asn1167fs
  • NP_001394857.1:p.Asn1167fs
  • NP_001394858.1:p.Asn1167fs
  • NP_001394859.1:p.Asn1166fs
  • NP_001394860.1:p.Asn1166fs
  • NP_001394861.1:p.Asn1166fs
  • NP_001394862.1:p.Asn1167fs
  • NP_001394863.1:p.Asn1166fs
  • NP_001394864.1:p.Asn1167fs
  • NP_001394865.1:p.Asn1166fs
  • NP_001394866.1:p.Asn1214fs
  • NP_001394867.1:p.Asn1214fs
  • NP_001394868.1:p.Asn1214fs
  • NP_001394869.1:p.Asn1213fs
  • NP_001394870.1:p.Asn1213fs
  • NP_001394871.1:p.Asn1208fs
  • NP_001394872.1:p.Asn1207fs
  • NP_001394873.1:p.Asn1208fs
  • NP_001394874.1:p.Asn1208fs
  • NP_001394875.1:p.Asn1144fs
  • NP_001394876.1:p.Asn1144fs
  • NP_001394877.1:p.Asn1144fs
  • NP_001394878.1:p.Asn1144fs
  • NP_001394879.1:p.Asn1144fs
  • NP_001394880.1:p.Asn1144fs
  • NP_001394881.1:p.Asn1144fs
  • NP_001394882.1:p.Asn1144fs
  • NP_001394883.1:p.Asn1143fs
  • NP_001394884.1:p.Asn1143fs
  • NP_001394885.1:p.Asn1143fs
  • NP_001394886.1:p.Asn1144fs
  • NP_001394887.1:p.Asn1143fs
  • NP_001394888.1:p.Asn1128fs
  • NP_001394889.1:p.Asn1128fs
  • NP_001394891.1:p.Asn1127fs
  • NP_001394892.1:p.Asn1128fs
  • NP_001394893.1:p.Asn1207fs
  • NP_001394894.1:p.Asn1087fs
  • NP_001394895.1:p.Asn959fs
  • NP_001394896.1:p.Asn959fs
  • NP_001394897.1:p.Asn387fs
  • NP_001394898.1:p.Asn387fs
  • NP_009225.1:p.Asn1255Lysfs
  • NP_009225.1:p.Asn1255fs
  • NP_009228.2:p.Asn1208fs
  • NP_009231.2:p.Asn1255fs
  • LRG_292t1:c.3763dup
  • LRG_292:g.126217dup
  • LRG_292p1:p.Asn1255Lysfs
  • NC_000017.10:g.41243785dup
  • NM_007294.3:c.3763dup
  • NM_007294.3:c.3764dupA
  • NM_007294.4:c.3764dup
  • NM_007294.4:c.3764dupA
  • NR_027676.1:n.3899dup
  • U14680.1:n.3883_3884insA
  • p.Asn1255Lysfs*12
  • p.N1255KFS*12
Nucleotide change:
3883insA
Protein change:
N1087fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3883&base_change=ins A; dbSNP: rs80357848
NCBI 1000 Genomes Browser:
rs80357848
Molecular consequence:
  • NM_001407571.1:c.3551dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3755dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3755dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.3686dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.3686dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.3686dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.3686dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.3686dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.3686dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.3683dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.3683dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.3683dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.3683dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.3686dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.3551dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3761dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.3563dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.3560dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.3560dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.3551dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.3551dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.3551dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.3551dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.3551dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.3551dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.3554dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.3551dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.3551dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.3551dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.3551dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.3500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.3500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.3500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.3500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.3500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.3500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.3500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.3500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.3500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.3500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.3497dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.3497dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.3497dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.3500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.3497dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.3500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.3497dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.3641dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.3638dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.3431dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.3431dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.3431dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.3431dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.3431dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.3431dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.3431dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.3431dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.3428dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.3428dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.3428dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.3431dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.3428dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.3383dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.3383dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.3380dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.3383dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.3620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.3260dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2876dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2876dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.1160dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.1160dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.3623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-744dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-735dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000605850Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Dec 8, 2016) 		germlineclinical testing

PubMed (3)
[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

Recurrent germ-line BRCA1 mutations in extended African American families with early-onset breast cancer.

Gao Q, Neuhausen S, Cummings S, Luce M, Olopade OI.

Am J Hum Genet. 1997 May;60(5):1233-6. No abstract available.

PubMed [citation]
PMID:
9150171
PMCID:
PMC1712427

Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.

Fernandes GC, Michelli RA, Galvão HC, Paula AE, Pereira R, Andrade CE, Felicio PS, Souza CP, Mendes DR, Volc S, Berardinelli GN, Grasel RS, Sabato CS, Viana DV, Mauad EC, Scapulatempo-Neto C, Arun B, Reis RM, Palmero EI.

Oncotarget. 2016 Dec 6;7(49):80465-80481. doi: 10.18632/oncotarget.12610.

PubMed [citation]
PMID:
27741520
PMCID:
PMC5348334
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000605850.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025