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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 23, 2021
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:
RCV002386027.2

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002691898Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 23, 2021) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.

Colombo M, De Vecchi G, Caleca L, Foglia C, Ripamonti CB, Ficarazzi F, Barile M, Varesco L, Peissel B, Manoukian S, Radice P.

PLoS One. 2013;8(2):e57173. doi: 10.1371/journal.pone.0057173. Epub 2013 Feb 22.

PubMed [citation]
PMID:
23451180
PMCID:
PMC3579815

Functional characterization of BRCA1 gene variants by mini-gene splicing assay.

Steffensen AY, Dandanell M, Jønson L, Ejlertsen B, Gerdes AM, Nielsen FC, Hansen Tv.

Eur J Hum Genet. 2014 Dec;22(12):1362-8. doi: 10.1038/ejhg.2014.40. Epub 2014 Mar 26.

PubMed [citation]
PMID:
24667779
PMCID:
PMC4231409
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV002691898.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The c.134+3A>T intronic pathogenic mutation results from an A to T substitution 3 nucleotides after coding exon 2 in the BRCA1 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. This alteration results in skipping of coding exon 2 (also known as exon 3 in the literature) resulting in a transcript with a premature termination codon (Wai HA et al. Genet Med, 2020 06;22:1005-1014). One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). In addition, several variants at the same donor site, including BRCA1 c.134+5G>A and BRCA1 c.134+5G>T, cause the same splice defect (Ambry internal data; Baert A et al. Hum. Mutat., 2018 04;39:515-526). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 8, 2024