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NM_007294.4(BRCA1):c.134+3A>C AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 13, 2022
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:
RCV001389662.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.134+3A>C]

NM_007294.4(BRCA1):c.134+3A>C

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.134+3A>C
Other names:
IVS3+3A>C
HGVS:
  • NC_000017.11:g.43115723T>G
  • NG_005905.2:g.102261A>C
  • NM_001407571.1:c.-55+3A>C
  • NM_001407581.1:c.134+3A>C
  • NM_001407582.1:c.134+3A>C
  • NM_001407583.1:c.134+3A>C
  • NM_001407585.1:c.134+3A>C
  • NM_001407587.1:c.134+3A>C
  • NM_001407590.1:c.134+3A>C
  • NM_001407591.1:c.134+3A>C
  • NM_001407593.1:c.134+3A>C
  • NM_001407594.1:c.134+3A>C
  • NM_001407596.1:c.134+3A>C
  • NM_001407597.1:c.134+3A>C
  • NM_001407598.1:c.134+3A>C
  • NM_001407602.1:c.134+3A>C
  • NM_001407603.1:c.134+3A>C
  • NM_001407605.1:c.134+3A>C
  • NM_001407610.1:c.134+3A>C
  • NM_001407611.1:c.134+3A>C
  • NM_001407612.1:c.134+3A>C
  • NM_001407613.1:c.134+3A>C
  • NM_001407614.1:c.134+3A>C
  • NM_001407615.1:c.134+3A>C
  • NM_001407616.1:c.134+3A>C
  • NM_001407617.1:c.134+3A>C
  • NM_001407618.1:c.134+3A>C
  • NM_001407619.1:c.134+3A>C
  • NM_001407620.1:c.134+3A>C
  • NM_001407621.1:c.134+3A>C
  • NM_001407622.1:c.134+3A>C
  • NM_001407623.1:c.134+3A>C
  • NM_001407624.1:c.134+3A>C
  • NM_001407625.1:c.134+3A>C
  • NM_001407626.1:c.134+3A>C
  • NM_001407627.1:c.134+3A>C
  • NM_001407628.1:c.134+3A>C
  • NM_001407629.1:c.134+3A>C
  • NM_001407630.1:c.134+3A>C
  • NM_001407631.1:c.134+3A>C
  • NM_001407632.1:c.134+3A>C
  • NM_001407633.1:c.134+3A>C
  • NM_001407634.1:c.134+3A>C
  • NM_001407635.1:c.134+3A>C
  • NM_001407636.1:c.134+3A>C
  • NM_001407637.1:c.134+3A>C
  • NM_001407638.1:c.134+3A>C
  • NM_001407639.1:c.134+3A>C
  • NM_001407640.1:c.134+3A>C
  • NM_001407641.1:c.134+3A>C
  • NM_001407642.1:c.134+3A>C
  • NM_001407644.1:c.134+3A>C
  • NM_001407645.1:c.134+3A>C
  • NM_001407646.1:c.134+3A>C
  • NM_001407647.1:c.134+3A>C
  • NM_001407648.1:c.134+3A>C
  • NM_001407649.1:c.134+3A>C
  • NM_001407652.1:c.134+3A>C
  • NM_001407653.1:c.134+3A>C
  • NM_001407654.1:c.134+3A>C
  • NM_001407655.1:c.134+3A>C
  • NM_001407656.1:c.134+3A>C
  • NM_001407657.1:c.134+3A>C
  • NM_001407658.1:c.134+3A>C
  • NM_001407659.1:c.134+3A>C
  • NM_001407660.1:c.134+3A>C
  • NM_001407661.1:c.134+3A>C
  • NM_001407662.1:c.134+3A>C
  • NM_001407663.1:c.134+3A>C
  • NM_001407664.1:c.134+3A>C
  • NM_001407665.1:c.134+3A>C
  • NM_001407666.1:c.134+3A>C
  • NM_001407667.1:c.134+3A>C
  • NM_001407668.1:c.134+3A>C
  • NM_001407669.1:c.134+3A>C
  • NM_001407670.1:c.134+3A>C
  • NM_001407671.1:c.134+3A>C
  • NM_001407672.1:c.134+3A>C
  • NM_001407673.1:c.134+3A>C
  • NM_001407674.1:c.134+3A>C
  • NM_001407675.1:c.134+3A>C
  • NM_001407676.1:c.134+3A>C
  • NM_001407677.1:c.134+3A>C
  • NM_001407678.1:c.134+3A>C
  • NM_001407679.1:c.134+3A>C
  • NM_001407680.1:c.134+3A>C
  • NM_001407681.1:c.134+3A>C
  • NM_001407682.1:c.134+3A>C
  • NM_001407683.1:c.134+3A>C
  • NM_001407684.1:c.134+3A>C
  • NM_001407685.1:c.134+3A>C
  • NM_001407686.1:c.134+3A>C
  • NM_001407687.1:c.134+3A>C
  • NM_001407688.1:c.134+3A>C
  • NM_001407689.1:c.134+3A>C
  • NM_001407690.1:c.134+3A>C
  • NM_001407691.1:c.134+3A>C
  • NM_001407692.1:c.-7-9190A>C
  • NM_001407694.1:c.-124+3A>C
  • NM_001407695.1:c.-128+3A>C
  • NM_001407696.1:c.-124+3A>C
  • NM_001407697.1:c.-8+3A>C
  • NM_001407698.1:c.-8+8294A>C
  • NM_001407724.1:c.-124+3A>C
  • NM_001407725.1:c.-8+3A>C
  • NM_001407726.1:c.-8+5835A>C
  • NM_001407727.1:c.-124+3A>C
  • NM_001407728.1:c.-8+3A>C
  • NM_001407729.1:c.-8+3A>C
  • NM_001407730.1:c.-8+3A>C
  • NM_001407731.1:c.-124+3A>C
  • NM_001407732.1:c.-8+8294A>C
  • NM_001407733.1:c.-124+3A>C
  • NM_001407734.1:c.-8+3A>C
  • NM_001407735.1:c.-8+3A>C
  • NM_001407736.1:c.-8+8294A>C
  • NM_001407737.1:c.-8+3A>C
  • NM_001407738.1:c.-8+8294A>C
  • NM_001407739.1:c.-8+3A>C
  • NM_001407740.1:c.-8+3A>C
  • NM_001407741.1:c.-8+3A>C
  • NM_001407742.1:c.-8+8294A>C
  • NM_001407743.1:c.-8+3A>C
  • NM_001407744.1:c.-8+8294A>C
  • NM_001407745.1:c.-8+3A>C
  • NM_001407746.1:c.-124+3A>C
  • NM_001407747.1:c.-7-9190A>C
  • NM_001407748.1:c.-8+3A>C
  • NM_001407749.1:c.-124+3A>C
  • NM_001407750.1:c.-8+8294A>C
  • NM_001407751.1:c.-8+5835A>C
  • NM_001407752.1:c.-8+3A>C
  • NM_001407838.1:c.-8+3A>C
  • NM_001407839.1:c.-8+3A>C
  • NM_001407841.1:c.-8+7A>C
  • NM_001407842.1:c.-124+3A>C
  • NM_001407843.1:c.-124+3A>C
  • NM_001407844.1:c.-8+3A>C
  • NM_001407845.1:c.-8+8294A>C
  • NM_001407846.1:c.-8+3A>C
  • NM_001407847.1:c.-8+3A>C
  • NM_001407848.1:c.-8+3A>C
  • NM_001407849.1:c.-8+8294A>C
  • NM_001407850.1:c.-8+3A>C
  • NM_001407851.1:c.-8+3A>C
  • NM_001407852.1:c.-8+8294A>C
  • NM_001407853.1:c.-55+3A>C
  • NM_001407854.1:c.134+3A>C
  • NM_001407858.1:c.134+3A>C
  • NM_001407859.1:c.134+3A>C
  • NM_001407860.1:c.134+3A>C
  • NM_001407861.1:c.134+3A>C
  • NM_001407862.1:c.134+3A>C
  • NM_001407863.1:c.134+3A>C
  • NM_001407874.1:c.134+3A>C
  • NM_001407875.1:c.134+3A>C
  • NM_001407879.1:c.-55+3A>C
  • NM_001407881.1:c.-55+8294A>C
  • NM_001407882.1:c.-55+3A>C
  • NM_001407884.1:c.-55+3A>C
  • NM_001407885.1:c.-55+3A>C
  • NM_001407886.1:c.-55+3A>C
  • NM_001407887.1:c.-55+3A>C
  • NM_001407889.1:c.-171+3A>C
  • NM_001407894.1:c.-55+3A>C
  • NM_001407895.1:c.-55+3A>C
  • NM_001407896.1:c.-55+3A>C
  • NM_001407897.1:c.-55+3A>C
  • NM_001407898.1:c.-55+8294A>C
  • NM_001407899.1:c.-55+3A>C
  • NM_001407900.1:c.-171+3A>C
  • NM_001407902.1:c.-55+8294A>C
  • NM_001407904.1:c.-55+3A>C
  • NM_001407906.1:c.-55+3A>C
  • NM_001407907.1:c.-55+3A>C
  • NM_001407908.1:c.-55+3A>C
  • NM_001407909.1:c.-55+3A>C
  • NM_001407910.1:c.-55+3A>C
  • NM_001407915.1:c.-55+3A>C
  • NM_001407916.1:c.-55+3A>C
  • NM_001407917.1:c.-55+3A>C
  • NM_001407918.1:c.-55+3A>C
  • NM_001407919.1:c.134+3A>C
  • NM_001407920.1:c.-8+3A>C
  • NM_001407921.1:c.-8+3A>C
  • NM_001407922.1:c.-8+3A>C
  • NM_001407923.1:c.-8+3A>C
  • NM_001407924.1:c.-8+8294A>C
  • NM_001407925.1:c.-8+8294A>C
  • NM_001407926.1:c.-8+3A>C
  • NM_001407927.1:c.-8+3A>C
  • NM_001407928.1:c.-8+8294A>C
  • NM_001407929.1:c.-8+8294A>C
  • NM_001407930.1:c.-124+3A>C
  • NM_001407931.1:c.-7-9190A>C
  • NM_001407932.1:c.-8+8294A>C
  • NM_001407933.1:c.-8+3A>C
  • NM_001407934.1:c.-8+3A>C
  • NM_001407935.1:c.-8+3A>C
  • NM_001407936.1:c.-8+8294A>C
  • NM_001407937.1:c.134+3A>C
  • NM_001407938.1:c.134+3A>C
  • NM_001407939.1:c.134+3A>C
  • NM_001407940.1:c.134+3A>C
  • NM_001407941.1:c.134+3A>C
  • NM_001407942.1:c.-124+3A>C
  • NM_001407943.1:c.-8+3A>C
  • NM_001407944.1:c.-8+3A>C
  • NM_001407945.1:c.-8+8294A>C
  • NM_001407946.1:c.-55+3A>C
  • NM_001407947.1:c.-55+3A>C
  • NM_001407948.1:c.-55+3A>C
  • NM_001407949.1:c.-55+3A>C
  • NM_001407950.1:c.-55+3A>C
  • NM_001407951.1:c.-55+3A>C
  • NM_001407952.1:c.-55+3A>C
  • NM_001407953.1:c.-55+3A>C
  • NM_001407954.1:c.-55+3A>C
  • NM_001407955.1:c.-55+3A>C
  • NM_001407956.1:c.-55+3A>C
  • NM_001407957.1:c.-55+3A>C
  • NM_001407958.1:c.-55+3A>C
  • NM_001407959.1:c.-170+9554A>C
  • NM_001407960.1:c.-170+3A>C
  • NM_001407962.1:c.-170+3A>C
  • NM_001407963.1:c.-170+9548A>C
  • NM_001407964.1:c.-8+3A>C
  • NM_001407965.1:c.-286+3A>C
  • NM_001407966.1:c.-219+9548A>C
  • NM_001407967.1:c.-219+9554A>C
  • NM_001407968.1:c.134+3A>C
  • NM_001407969.1:c.134+3A>C
  • NM_001407970.1:c.134+3A>C
  • NM_001407971.1:c.134+3A>C
  • NM_001407972.1:c.134+3A>C
  • NM_001407973.1:c.134+3A>C
  • NM_001407974.1:c.134+3A>C
  • NM_001407975.1:c.134+3A>C
  • NM_001407976.1:c.134+3A>C
  • NM_001407977.1:c.134+3A>C
  • NM_001407978.1:c.134+3A>C
  • NM_001407979.1:c.134+3A>C
  • NM_001407980.1:c.134+3A>C
  • NM_001407981.1:c.134+3A>C
  • NM_001407982.1:c.134+3A>C
  • NM_001407983.1:c.134+3A>C
  • NM_001407984.1:c.134+3A>C
  • NM_001407985.1:c.134+3A>C
  • NM_001407986.1:c.134+3A>C
  • NM_001407990.1:c.134+3A>C
  • NM_001407991.1:c.134+3A>C
  • NM_001407992.1:c.134+3A>C
  • NM_001407993.1:c.134+3A>C
  • NM_001408392.1:c.134+3A>C
  • NM_001408396.1:c.134+3A>C
  • NM_001408397.1:c.134+3A>C
  • NM_001408398.1:c.134+3A>C
  • NM_001408399.1:c.134+3A>C
  • NM_001408400.1:c.134+3A>C
  • NM_001408401.1:c.134+3A>C
  • NM_001408402.1:c.134+3A>C
  • NM_001408403.1:c.134+3A>C
  • NM_001408404.1:c.134+3A>C
  • NM_001408406.1:c.134+3A>C
  • NM_001408407.1:c.134+3A>C
  • NM_001408408.1:c.134+3A>C
  • NM_001408409.1:c.134+3A>C
  • NM_001408410.1:c.-8+3A>C
  • NM_001408411.1:c.134+3A>C
  • NM_001408412.1:c.134+3A>C
  • NM_001408413.1:c.134+3A>C
  • NM_001408414.1:c.134+3A>C
  • NM_001408415.1:c.134+3A>C
  • NM_001408416.1:c.134+3A>C
  • NM_001408418.1:c.134+3A>C
  • NM_001408419.1:c.134+3A>C
  • NM_001408420.1:c.134+3A>C
  • NM_001408421.1:c.134+3A>C
  • NM_001408422.1:c.134+3A>C
  • NM_001408423.1:c.134+3A>C
  • NM_001408424.1:c.134+3A>C
  • NM_001408425.1:c.134+3A>C
  • NM_001408426.1:c.134+3A>C
  • NM_001408427.1:c.134+3A>C
  • NM_001408428.1:c.134+3A>C
  • NM_001408429.1:c.134+3A>C
  • NM_001408430.1:c.134+3A>C
  • NM_001408431.1:c.134+3A>C
  • NM_001408432.1:c.134+3A>C
  • NM_001408433.1:c.134+3A>C
  • NM_001408434.1:c.134+3A>C
  • NM_001408435.1:c.134+3A>C
  • NM_001408436.1:c.134+3A>C
  • NM_001408437.1:c.134+3A>C
  • NM_001408438.1:c.134+3A>C
  • NM_001408439.1:c.134+3A>C
  • NM_001408440.1:c.134+3A>C
  • NM_001408441.1:c.134+3A>C
  • NM_001408442.1:c.134+3A>C
  • NM_001408443.1:c.134+3A>C
  • NM_001408444.1:c.134+3A>C
  • NM_001408445.1:c.134+3A>C
  • NM_001408446.1:c.134+3A>C
  • NM_001408447.1:c.134+3A>C
  • NM_001408448.1:c.134+3A>C
  • NM_001408450.1:c.134+3A>C
  • NM_001408451.1:c.80+8294A>C
  • NM_001408452.1:c.-8+3A>C
  • NM_001408453.1:c.-8+3A>C
  • NM_001408454.1:c.-8+8294A>C
  • NM_001408455.1:c.-124+3A>C
  • NM_001408456.1:c.-124+3A>C
  • NM_001408457.1:c.-7-9190A>C
  • NM_001408458.1:c.-8+3A>C
  • NM_001408459.1:c.-8+8294A>C
  • NM_001408460.1:c.-8+8294A>C
  • NM_001408461.1:c.-8+8294A>C
  • NM_001408462.1:c.-8+3A>C
  • NM_001408463.1:c.-8+3A>C
  • NM_001408464.1:c.-8+8294A>C
  • NM_001408465.1:c.-128+3A>C
  • NM_001408466.1:c.-8+3A>C
  • NM_001408467.1:c.-8+8294A>C
  • NM_001408468.1:c.-124+3A>C
  • NM_001408469.1:c.-8+3A>C
  • NM_001408470.1:c.-8+3A>C
  • NM_001408472.1:c.134+3A>C
  • NM_001408473.1:c.134+3A>C
  • NM_001408474.1:c.134+3A>C
  • NM_001408475.1:c.134+3A>C
  • NM_001408476.1:c.134+3A>C
  • NM_001408478.1:c.-55+3A>C
  • NM_001408479.1:c.-55+3A>C
  • NM_001408480.1:c.-55+3A>C
  • NM_001408481.1:c.-55+3A>C
  • NM_001408482.1:c.-55+3A>C
  • NM_001408483.1:c.-55+3A>C
  • NM_001408484.1:c.-55+3A>C
  • NM_001408485.1:c.-55+3A>C
  • NM_001408489.1:c.-55+3A>C
  • NM_001408490.1:c.-55+3A>C
  • NM_001408491.1:c.-55+3A>C
  • NM_001408492.1:c.-171+3A>C
  • NM_001408493.1:c.-55+3A>C
  • NM_001408494.1:c.134+3A>C
  • NM_001408495.1:c.134+3A>C
  • NM_001408496.1:c.-8+8294A>C
  • NM_001408497.1:c.-8+3A>C
  • NM_001408498.1:c.-8+8294A>C
  • NM_001408499.1:c.-8+3A>C
  • NM_001408500.1:c.-8+3A>C
  • NM_001408501.1:c.-124+3A>C
  • NM_001408502.1:c.-55+3A>C
  • NM_001408503.1:c.-8+3A>C
  • NM_001408504.1:c.-8+3A>C
  • NM_001408505.1:c.-8+3A>C
  • NM_001408506.1:c.-55+3A>C
  • NM_001408507.1:c.-55+3A>C
  • NM_001408508.1:c.-55+3A>C
  • NM_001408509.1:c.-55+3A>C
  • NM_001408510.1:c.-170+3A>C
  • NM_001408511.1:c.-7-9190A>C
  • NM_001408512.1:c.-170+3A>C
  • NM_001408513.1:c.-55+3A>C
  • NM_001408514.1:c.-55+3A>C
  • NM_007294.4:c.134+3A>CMANE SELECT
  • NM_007297.4:c.-8+8294A>C
  • NM_007298.4:c.134+3A>C
  • NM_007299.4:c.134+3A>C
  • NM_007300.4:c.134+3A>C
  • LRG_292t1:c.134+3A>C
  • LRG_292:g.102261A>C
  • NC_000017.10:g.41267740T>G
  • NM_007294.3:c.134+3A>C
  • NM_007297.3:c.-8+8294A>C
  • U14680.1:n.253+3A>C
Links:
Breast Cancer Information Core (BIC) (BRCA1): 253+3&base_change=A to C; dbSNP: rs80358064
NCBI 1000 Genomes Browser:
rs80358064
Molecular consequence:
  • NM_001407571.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.-7-9190A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.-128+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.-8+5835A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.-7-9190A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.-8+5835A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.-8+7A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.-55+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.-171+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.-55+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.-171+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.-55+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.-7-9190A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.-170+9554A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.-170+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.-170+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.-170+9548A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.-286+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-219+9548A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-219+9554A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.80+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.-7-9190A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.-128+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.-171+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.-124+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.-8+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.-170+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.-7-9190A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.-170+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.-55+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.-8+8294A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.134+3A>C - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001591107Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 13, 2022) 		germlineclinical testing

PubMed (10)
[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

BRCA1 and its toolbox for the maintenance of genome integrity.

Huen MS, Sy SM, Chen J.

Nat Rev Mol Cell Biol. 2010 Feb;11(2):138-48. doi: 10.1038/nrm2831. Epub 2009 Dec 23. Review.

PubMed [citation]
PMID:
20029420
PMCID:
PMC3899800

Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.

Loke J, Pearlman A, Upadhyay K, Tesfa L, Shao Y, Ostrer H.

Hum Mol Genet. 2015 Jun 1;24(11):3030-7. doi: 10.1093/hmg/ddv048. Epub 2015 Feb 4.

PubMed [citation]
PMID:
25652403
See all PubMed Citations (10)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001591107.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts the RING domain of the BRCA1 protein, which mediates BRCA1 interactions with BARD1 and BAP1 and is important for ubiquitin ligase activity (PMID: 20029420, 25652403). While functional studies have not been performed to directly test the effect of this variant on BRCA1 protein function, this suggests that disruption of this region of the protein is causative of disease. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 3, but is expected to preserve the integrity of the reading-frame (PMID: 12759930, 24667779). Experimental studies have shown that this variant affects BRCA1 function (PMID: 30209399). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 54212). This variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 12402332, 12759930, 32341426). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the BRCA1 gene. It does not directly change the encoded amino acid sequence of the BRCA1 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product.

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

Last Updated: Nov 3, 2024