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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 4, 2023
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:
RCV000637525.9

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

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

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>T
HGVS:
  • NC_000017.11:g.43115723T>A
  • NG_005905.2:g.102261A>T
  • NM_001407571.1:c.-55+3A>T
  • NM_001407581.1:c.134+3A>T
  • NM_001407582.1:c.134+3A>T
  • NM_001407583.1:c.134+3A>T
  • NM_001407585.1:c.134+3A>T
  • NM_001407587.1:c.134+3A>T
  • NM_001407590.1:c.134+3A>T
  • NM_001407591.1:c.134+3A>T
  • NM_001407593.1:c.134+3A>T
  • NM_001407594.1:c.134+3A>T
  • NM_001407596.1:c.134+3A>T
  • NM_001407597.1:c.134+3A>T
  • NM_001407598.1:c.134+3A>T
  • NM_001407602.1:c.134+3A>T
  • NM_001407603.1:c.134+3A>T
  • NM_001407605.1:c.134+3A>T
  • NM_001407610.1:c.134+3A>T
  • NM_001407611.1:c.134+3A>T
  • NM_001407612.1:c.134+3A>T
  • NM_001407613.1:c.134+3A>T
  • NM_001407614.1:c.134+3A>T
  • NM_001407615.1:c.134+3A>T
  • NM_001407616.1:c.134+3A>T
  • NM_001407617.1:c.134+3A>T
  • NM_001407618.1:c.134+3A>T
  • NM_001407619.1:c.134+3A>T
  • NM_001407620.1:c.134+3A>T
  • NM_001407621.1:c.134+3A>T
  • NM_001407622.1:c.134+3A>T
  • NM_001407623.1:c.134+3A>T
  • NM_001407624.1:c.134+3A>T
  • NM_001407625.1:c.134+3A>T
  • NM_001407626.1:c.134+3A>T
  • NM_001407627.1:c.134+3A>T
  • NM_001407628.1:c.134+3A>T
  • NM_001407629.1:c.134+3A>T
  • NM_001407630.1:c.134+3A>T
  • NM_001407631.1:c.134+3A>T
  • NM_001407632.1:c.134+3A>T
  • NM_001407633.1:c.134+3A>T
  • NM_001407634.1:c.134+3A>T
  • NM_001407635.1:c.134+3A>T
  • NM_001407636.1:c.134+3A>T
  • NM_001407637.1:c.134+3A>T
  • NM_001407638.1:c.134+3A>T
  • NM_001407639.1:c.134+3A>T
  • NM_001407640.1:c.134+3A>T
  • NM_001407641.1:c.134+3A>T
  • NM_001407642.1:c.134+3A>T
  • NM_001407644.1:c.134+3A>T
  • NM_001407645.1:c.134+3A>T
  • NM_001407646.1:c.134+3A>T
  • NM_001407647.1:c.134+3A>T
  • NM_001407648.1:c.134+3A>T
  • NM_001407649.1:c.134+3A>T
  • NM_001407652.1:c.134+3A>T
  • NM_001407653.1:c.134+3A>T
  • NM_001407654.1:c.134+3A>T
  • NM_001407655.1:c.134+3A>T
  • NM_001407656.1:c.134+3A>T
  • NM_001407657.1:c.134+3A>T
  • NM_001407658.1:c.134+3A>T
  • NM_001407659.1:c.134+3A>T
  • NM_001407660.1:c.134+3A>T
  • NM_001407661.1:c.134+3A>T
  • NM_001407662.1:c.134+3A>T
  • NM_001407663.1:c.134+3A>T
  • NM_001407664.1:c.134+3A>T
  • NM_001407665.1:c.134+3A>T
  • NM_001407666.1:c.134+3A>T
  • NM_001407667.1:c.134+3A>T
  • NM_001407668.1:c.134+3A>T
  • NM_001407669.1:c.134+3A>T
  • NM_001407670.1:c.134+3A>T
  • NM_001407671.1:c.134+3A>T
  • NM_001407672.1:c.134+3A>T
  • NM_001407673.1:c.134+3A>T
  • NM_001407674.1:c.134+3A>T
  • NM_001407675.1:c.134+3A>T
  • NM_001407676.1:c.134+3A>T
  • NM_001407677.1:c.134+3A>T
  • NM_001407678.1:c.134+3A>T
  • NM_001407679.1:c.134+3A>T
  • NM_001407680.1:c.134+3A>T
  • NM_001407681.1:c.134+3A>T
  • NM_001407682.1:c.134+3A>T
  • NM_001407683.1:c.134+3A>T
  • NM_001407684.1:c.134+3A>T
  • NM_001407685.1:c.134+3A>T
  • NM_001407686.1:c.134+3A>T
  • NM_001407687.1:c.134+3A>T
  • NM_001407688.1:c.134+3A>T
  • NM_001407689.1:c.134+3A>T
  • NM_001407690.1:c.134+3A>T
  • NM_001407691.1:c.134+3A>T
  • NM_001407692.1:c.-7-9190A>T
  • NM_001407694.1:c.-124+3A>T
  • NM_001407695.1:c.-128+3A>T
  • NM_001407696.1:c.-124+3A>T
  • NM_001407697.1:c.-8+3A>T
  • NM_001407698.1:c.-8+8294A>T
  • NM_001407724.1:c.-124+3A>T
  • NM_001407725.1:c.-8+3A>T
  • NM_001407726.1:c.-8+5835A>T
  • NM_001407727.1:c.-124+3A>T
  • NM_001407728.1:c.-8+3A>T
  • NM_001407729.1:c.-8+3A>T
  • NM_001407730.1:c.-8+3A>T
  • NM_001407731.1:c.-124+3A>T
  • NM_001407732.1:c.-8+8294A>T
  • NM_001407733.1:c.-124+3A>T
  • NM_001407734.1:c.-8+3A>T
  • NM_001407735.1:c.-8+3A>T
  • NM_001407736.1:c.-8+8294A>T
  • NM_001407737.1:c.-8+3A>T
  • NM_001407738.1:c.-8+8294A>T
  • NM_001407739.1:c.-8+3A>T
  • NM_001407740.1:c.-8+3A>T
  • NM_001407741.1:c.-8+3A>T
  • NM_001407742.1:c.-8+8294A>T
  • NM_001407743.1:c.-8+3A>T
  • NM_001407744.1:c.-8+8294A>T
  • NM_001407745.1:c.-8+3A>T
  • NM_001407746.1:c.-124+3A>T
  • NM_001407747.1:c.-7-9190A>T
  • NM_001407748.1:c.-8+3A>T
  • NM_001407749.1:c.-124+3A>T
  • NM_001407750.1:c.-8+8294A>T
  • NM_001407751.1:c.-8+5835A>T
  • NM_001407752.1:c.-8+3A>T
  • NM_001407838.1:c.-8+3A>T
  • NM_001407839.1:c.-8+3A>T
  • NM_001407841.1:c.-8+7A>T
  • NM_001407842.1:c.-124+3A>T
  • NM_001407843.1:c.-124+3A>T
  • NM_001407844.1:c.-8+3A>T
  • NM_001407845.1:c.-8+8294A>T
  • NM_001407846.1:c.-8+3A>T
  • NM_001407847.1:c.-8+3A>T
  • NM_001407848.1:c.-8+3A>T
  • NM_001407849.1:c.-8+8294A>T
  • NM_001407850.1:c.-8+3A>T
  • NM_001407851.1:c.-8+3A>T
  • NM_001407852.1:c.-8+8294A>T
  • NM_001407853.1:c.-55+3A>T
  • NM_001407854.1:c.134+3A>T
  • NM_001407858.1:c.134+3A>T
  • NM_001407859.1:c.134+3A>T
  • NM_001407860.1:c.134+3A>T
  • NM_001407861.1:c.134+3A>T
  • NM_001407862.1:c.134+3A>T
  • NM_001407863.1:c.134+3A>T
  • NM_001407874.1:c.134+3A>T
  • NM_001407875.1:c.134+3A>T
  • NM_001407879.1:c.-55+3A>T
  • NM_001407881.1:c.-55+8294A>T
  • NM_001407882.1:c.-55+3A>T
  • NM_001407884.1:c.-55+3A>T
  • NM_001407885.1:c.-55+3A>T
  • NM_001407886.1:c.-55+3A>T
  • NM_001407887.1:c.-55+3A>T
  • NM_001407889.1:c.-171+3A>T
  • NM_001407894.1:c.-55+3A>T
  • NM_001407895.1:c.-55+3A>T
  • NM_001407896.1:c.-55+3A>T
  • NM_001407897.1:c.-55+3A>T
  • NM_001407898.1:c.-55+8294A>T
  • NM_001407899.1:c.-55+3A>T
  • NM_001407900.1:c.-171+3A>T
  • NM_001407902.1:c.-55+8294A>T
  • NM_001407904.1:c.-55+3A>T
  • NM_001407906.1:c.-55+3A>T
  • NM_001407907.1:c.-55+3A>T
  • NM_001407908.1:c.-55+3A>T
  • NM_001407909.1:c.-55+3A>T
  • NM_001407910.1:c.-55+3A>T
  • NM_001407915.1:c.-55+3A>T
  • NM_001407916.1:c.-55+3A>T
  • NM_001407917.1:c.-55+3A>T
  • NM_001407918.1:c.-55+3A>T
  • NM_001407919.1:c.134+3A>T
  • NM_001407920.1:c.-8+3A>T
  • NM_001407921.1:c.-8+3A>T
  • NM_001407922.1:c.-8+3A>T
  • NM_001407923.1:c.-8+3A>T
  • NM_001407924.1:c.-8+8294A>T
  • NM_001407925.1:c.-8+8294A>T
  • NM_001407926.1:c.-8+3A>T
  • NM_001407927.1:c.-8+3A>T
  • NM_001407928.1:c.-8+8294A>T
  • NM_001407929.1:c.-8+8294A>T
  • NM_001407930.1:c.-124+3A>T
  • NM_001407931.1:c.-7-9190A>T
  • NM_001407932.1:c.-8+8294A>T
  • NM_001407933.1:c.-8+3A>T
  • NM_001407934.1:c.-8+3A>T
  • NM_001407935.1:c.-8+3A>T
  • NM_001407936.1:c.-8+8294A>T
  • NM_001407937.1:c.134+3A>T
  • NM_001407938.1:c.134+3A>T
  • NM_001407939.1:c.134+3A>T
  • NM_001407940.1:c.134+3A>T
  • NM_001407941.1:c.134+3A>T
  • NM_001407942.1:c.-124+3A>T
  • NM_001407943.1:c.-8+3A>T
  • NM_001407944.1:c.-8+3A>T
  • NM_001407945.1:c.-8+8294A>T
  • NM_001407946.1:c.-55+3A>T
  • NM_001407947.1:c.-55+3A>T
  • NM_001407948.1:c.-55+3A>T
  • NM_001407949.1:c.-55+3A>T
  • NM_001407950.1:c.-55+3A>T
  • NM_001407951.1:c.-55+3A>T
  • NM_001407952.1:c.-55+3A>T
  • NM_001407953.1:c.-55+3A>T
  • NM_001407954.1:c.-55+3A>T
  • NM_001407955.1:c.-55+3A>T
  • NM_001407956.1:c.-55+3A>T
  • NM_001407957.1:c.-55+3A>T
  • NM_001407958.1:c.-55+3A>T
  • NM_001407959.1:c.-170+9554A>T
  • NM_001407960.1:c.-170+3A>T
  • NM_001407962.1:c.-170+3A>T
  • NM_001407963.1:c.-170+9548A>T
  • NM_001407964.1:c.-8+3A>T
  • NM_001407965.1:c.-286+3A>T
  • NM_001407966.1:c.-219+9548A>T
  • NM_001407967.1:c.-219+9554A>T
  • NM_001407968.1:c.134+3A>T
  • NM_001407969.1:c.134+3A>T
  • NM_001407970.1:c.134+3A>T
  • NM_001407971.1:c.134+3A>T
  • NM_001407972.1:c.134+3A>T
  • NM_001407973.1:c.134+3A>T
  • NM_001407974.1:c.134+3A>T
  • NM_001407975.1:c.134+3A>T
  • NM_001407976.1:c.134+3A>T
  • NM_001407977.1:c.134+3A>T
  • NM_001407978.1:c.134+3A>T
  • NM_001407979.1:c.134+3A>T
  • NM_001407980.1:c.134+3A>T
  • NM_001407981.1:c.134+3A>T
  • NM_001407982.1:c.134+3A>T
  • NM_001407983.1:c.134+3A>T
  • NM_001407984.1:c.134+3A>T
  • NM_001407985.1:c.134+3A>T
  • NM_001407986.1:c.134+3A>T
  • NM_001407990.1:c.134+3A>T
  • NM_001407991.1:c.134+3A>T
  • NM_001407992.1:c.134+3A>T
  • NM_001407993.1:c.134+3A>T
  • NM_001408392.1:c.134+3A>T
  • NM_001408396.1:c.134+3A>T
  • NM_001408397.1:c.134+3A>T
  • NM_001408398.1:c.134+3A>T
  • NM_001408399.1:c.134+3A>T
  • NM_001408400.1:c.134+3A>T
  • NM_001408401.1:c.134+3A>T
  • NM_001408402.1:c.134+3A>T
  • NM_001408403.1:c.134+3A>T
  • NM_001408404.1:c.134+3A>T
  • NM_001408406.1:c.134+3A>T
  • NM_001408407.1:c.134+3A>T
  • NM_001408408.1:c.134+3A>T
  • NM_001408409.1:c.134+3A>T
  • NM_001408410.1:c.-8+3A>T
  • NM_001408411.1:c.134+3A>T
  • NM_001408412.1:c.134+3A>T
  • NM_001408413.1:c.134+3A>T
  • NM_001408414.1:c.134+3A>T
  • NM_001408415.1:c.134+3A>T
  • NM_001408416.1:c.134+3A>T
  • NM_001408418.1:c.134+3A>T
  • NM_001408419.1:c.134+3A>T
  • NM_001408420.1:c.134+3A>T
  • NM_001408421.1:c.134+3A>T
  • NM_001408422.1:c.134+3A>T
  • NM_001408423.1:c.134+3A>T
  • NM_001408424.1:c.134+3A>T
  • NM_001408425.1:c.134+3A>T
  • NM_001408426.1:c.134+3A>T
  • NM_001408427.1:c.134+3A>T
  • NM_001408428.1:c.134+3A>T
  • NM_001408429.1:c.134+3A>T
  • NM_001408430.1:c.134+3A>T
  • NM_001408431.1:c.134+3A>T
  • NM_001408432.1:c.134+3A>T
  • NM_001408433.1:c.134+3A>T
  • NM_001408434.1:c.134+3A>T
  • NM_001408435.1:c.134+3A>T
  • NM_001408436.1:c.134+3A>T
  • NM_001408437.1:c.134+3A>T
  • NM_001408438.1:c.134+3A>T
  • NM_001408439.1:c.134+3A>T
  • NM_001408440.1:c.134+3A>T
  • NM_001408441.1:c.134+3A>T
  • NM_001408442.1:c.134+3A>T
  • NM_001408443.1:c.134+3A>T
  • NM_001408444.1:c.134+3A>T
  • NM_001408445.1:c.134+3A>T
  • NM_001408446.1:c.134+3A>T
  • NM_001408447.1:c.134+3A>T
  • NM_001408448.1:c.134+3A>T
  • NM_001408450.1:c.134+3A>T
  • NM_001408451.1:c.80+8294A>T
  • NM_001408452.1:c.-8+3A>T
  • NM_001408453.1:c.-8+3A>T
  • NM_001408454.1:c.-8+8294A>T
  • NM_001408455.1:c.-124+3A>T
  • NM_001408456.1:c.-124+3A>T
  • NM_001408457.1:c.-7-9190A>T
  • NM_001408458.1:c.-8+3A>T
  • NM_001408459.1:c.-8+8294A>T
  • NM_001408460.1:c.-8+8294A>T
  • NM_001408461.1:c.-8+8294A>T
  • NM_001408462.1:c.-8+3A>T
  • NM_001408463.1:c.-8+3A>T
  • NM_001408464.1:c.-8+8294A>T
  • NM_001408465.1:c.-128+3A>T
  • NM_001408466.1:c.-8+3A>T
  • NM_001408467.1:c.-8+8294A>T
  • NM_001408468.1:c.-124+3A>T
  • NM_001408469.1:c.-8+3A>T
  • NM_001408470.1:c.-8+3A>T
  • NM_001408472.1:c.134+3A>T
  • NM_001408473.1:c.134+3A>T
  • NM_001408474.1:c.134+3A>T
  • NM_001408475.1:c.134+3A>T
  • NM_001408476.1:c.134+3A>T
  • NM_001408478.1:c.-55+3A>T
  • NM_001408479.1:c.-55+3A>T
  • NM_001408480.1:c.-55+3A>T
  • NM_001408481.1:c.-55+3A>T
  • NM_001408482.1:c.-55+3A>T
  • NM_001408483.1:c.-55+3A>T
  • NM_001408484.1:c.-55+3A>T
  • NM_001408485.1:c.-55+3A>T
  • NM_001408489.1:c.-55+3A>T
  • NM_001408490.1:c.-55+3A>T
  • NM_001408491.1:c.-55+3A>T
  • NM_001408492.1:c.-171+3A>T
  • NM_001408493.1:c.-55+3A>T
  • NM_001408494.1:c.134+3A>T
  • NM_001408495.1:c.134+3A>T
  • NM_001408496.1:c.-8+8294A>T
  • NM_001408497.1:c.-8+3A>T
  • NM_001408498.1:c.-8+8294A>T
  • NM_001408499.1:c.-8+3A>T
  • NM_001408500.1:c.-8+3A>T
  • NM_001408501.1:c.-124+3A>T
  • NM_001408502.1:c.-55+3A>T
  • NM_001408503.1:c.-8+3A>T
  • NM_001408504.1:c.-8+3A>T
  • NM_001408505.1:c.-8+3A>T
  • NM_001408506.1:c.-55+3A>T
  • NM_001408507.1:c.-55+3A>T
  • NM_001408508.1:c.-55+3A>T
  • NM_001408509.1:c.-55+3A>T
  • NM_001408510.1:c.-170+3A>T
  • NM_001408511.1:c.-7-9190A>T
  • NM_001408512.1:c.-170+3A>T
  • NM_001408513.1:c.-55+3A>T
  • NM_001408514.1:c.-55+3A>T
  • NM_007294.4:c.134+3A>TMANE SELECT
  • NM_007297.4:c.-8+8294A>T
  • NM_007298.4:c.134+3A>T
  • NM_007299.4:c.134+3A>T
  • NM_007300.4:c.134+3A>T
  • LRG_292t1:c.134+3A>T
  • LRG_292:g.102261A>T
  • NC_000017.10:g.41267740T>A
  • NM_007294.3:c.134+3A>T
Links:
dbSNP: rs80358064
NCBI 1000 Genomes Browser:
rs80358064
Molecular consequence:
  • NM_001407571.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.-7-9190A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.-128+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.-8+5835A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.-7-9190A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.-8+5835A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.-8+7A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.-55+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.-171+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.-55+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.-171+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.-55+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.-7-9190A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.-170+9554A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.-170+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.-170+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.-170+9548A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.-286+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-219+9548A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-219+9554A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.80+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.-7-9190A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.-128+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.-171+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.-124+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.-8+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.-170+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.-7-9190A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.-170+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.-55+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.-8+8294A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.134+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.134+3A>T - 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
SCV000758987Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 4, 2023) 		germlineclinical testing

PubMed (7)
[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

A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families.

Phelan CM, Kwan E, Jack E, Li S, Morgan C, Aubé J, Hanna D, Narod SA.

Hum Mutat. 2002 Nov;20(5):352-7.

PubMed [citation]
PMID:
12402332

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

Claes K, Poppe B, Machackova E, Coene I, Foretova L, De Paepe A, Messiaen L.

Genes Chromosomes Cancer. 2003 Jul;37(3):314-20.

PubMed [citation]
PMID:
12759930
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000758987.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. 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 may result in an absent or disrupted protein product. ClinVar contains an entry for this variant (Variation ID: 531302). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the c.134+3A nucleotide in the BRCA1 gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 12402332, 12759930). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing. 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 and introduces a premature termination codon (PMID: 32123317; Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. 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.

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

Last Updated: Oct 8, 2024