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NM_007294.4(BRCA1):c.134+3A>G AND Malignant tumor of breast

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000499578.3

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

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

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>G
HGVS:
  • NC_000017.11:g.43115723T>C
  • NG_005905.2:g.102261A>G
  • NM_001407571.1:c.-55+3A>G
  • NM_001407581.1:c.134+3A>G
  • NM_001407582.1:c.134+3A>G
  • NM_001407583.1:c.134+3A>G
  • NM_001407585.1:c.134+3A>G
  • NM_001407587.1:c.134+3A>G
  • NM_001407590.1:c.134+3A>G
  • NM_001407591.1:c.134+3A>G
  • NM_001407593.1:c.134+3A>G
  • NM_001407594.1:c.134+3A>G
  • NM_001407596.1:c.134+3A>G
  • NM_001407597.1:c.134+3A>G
  • NM_001407598.1:c.134+3A>G
  • NM_001407602.1:c.134+3A>G
  • NM_001407603.1:c.134+3A>G
  • NM_001407605.1:c.134+3A>G
  • NM_001407610.1:c.134+3A>G
  • NM_001407611.1:c.134+3A>G
  • NM_001407612.1:c.134+3A>G
  • NM_001407613.1:c.134+3A>G
  • NM_001407614.1:c.134+3A>G
  • NM_001407615.1:c.134+3A>G
  • NM_001407616.1:c.134+3A>G
  • NM_001407617.1:c.134+3A>G
  • NM_001407618.1:c.134+3A>G
  • NM_001407619.1:c.134+3A>G
  • NM_001407620.1:c.134+3A>G
  • NM_001407621.1:c.134+3A>G
  • NM_001407622.1:c.134+3A>G
  • NM_001407623.1:c.134+3A>G
  • NM_001407624.1:c.134+3A>G
  • NM_001407625.1:c.134+3A>G
  • NM_001407626.1:c.134+3A>G
  • NM_001407627.1:c.134+3A>G
  • NM_001407628.1:c.134+3A>G
  • NM_001407629.1:c.134+3A>G
  • NM_001407630.1:c.134+3A>G
  • NM_001407631.1:c.134+3A>G
  • NM_001407632.1:c.134+3A>G
  • NM_001407633.1:c.134+3A>G
  • NM_001407634.1:c.134+3A>G
  • NM_001407635.1:c.134+3A>G
  • NM_001407636.1:c.134+3A>G
  • NM_001407637.1:c.134+3A>G
  • NM_001407638.1:c.134+3A>G
  • NM_001407639.1:c.134+3A>G
  • NM_001407640.1:c.134+3A>G
  • NM_001407641.1:c.134+3A>G
  • NM_001407642.1:c.134+3A>G
  • NM_001407644.1:c.134+3A>G
  • NM_001407645.1:c.134+3A>G
  • NM_001407646.1:c.134+3A>G
  • NM_001407647.1:c.134+3A>G
  • NM_001407648.1:c.134+3A>G
  • NM_001407649.1:c.134+3A>G
  • NM_001407652.1:c.134+3A>G
  • NM_001407653.1:c.134+3A>G
  • NM_001407654.1:c.134+3A>G
  • NM_001407655.1:c.134+3A>G
  • NM_001407656.1:c.134+3A>G
  • NM_001407657.1:c.134+3A>G
  • NM_001407658.1:c.134+3A>G
  • NM_001407659.1:c.134+3A>G
  • NM_001407660.1:c.134+3A>G
  • NM_001407661.1:c.134+3A>G
  • NM_001407662.1:c.134+3A>G
  • NM_001407663.1:c.134+3A>G
  • NM_001407664.1:c.134+3A>G
  • NM_001407665.1:c.134+3A>G
  • NM_001407666.1:c.134+3A>G
  • NM_001407667.1:c.134+3A>G
  • NM_001407668.1:c.134+3A>G
  • NM_001407669.1:c.134+3A>G
  • NM_001407670.1:c.134+3A>G
  • NM_001407671.1:c.134+3A>G
  • NM_001407672.1:c.134+3A>G
  • NM_001407673.1:c.134+3A>G
  • NM_001407674.1:c.134+3A>G
  • NM_001407675.1:c.134+3A>G
  • NM_001407676.1:c.134+3A>G
  • NM_001407677.1:c.134+3A>G
  • NM_001407678.1:c.134+3A>G
  • NM_001407679.1:c.134+3A>G
  • NM_001407680.1:c.134+3A>G
  • NM_001407681.1:c.134+3A>G
  • NM_001407682.1:c.134+3A>G
  • NM_001407683.1:c.134+3A>G
  • NM_001407684.1:c.134+3A>G
  • NM_001407685.1:c.134+3A>G
  • NM_001407686.1:c.134+3A>G
  • NM_001407687.1:c.134+3A>G
  • NM_001407688.1:c.134+3A>G
  • NM_001407689.1:c.134+3A>G
  • NM_001407690.1:c.134+3A>G
  • NM_001407691.1:c.134+3A>G
  • NM_001407692.1:c.-7-9190A>G
  • NM_001407694.1:c.-124+3A>G
  • NM_001407695.1:c.-128+3A>G
  • NM_001407696.1:c.-124+3A>G
  • NM_001407697.1:c.-8+3A>G
  • NM_001407698.1:c.-8+8294A>G
  • NM_001407724.1:c.-124+3A>G
  • NM_001407725.1:c.-8+3A>G
  • NM_001407726.1:c.-8+5835A>G
  • NM_001407727.1:c.-124+3A>G
  • NM_001407728.1:c.-8+3A>G
  • NM_001407729.1:c.-8+3A>G
  • NM_001407730.1:c.-8+3A>G
  • NM_001407731.1:c.-124+3A>G
  • NM_001407732.1:c.-8+8294A>G
  • NM_001407733.1:c.-124+3A>G
  • NM_001407734.1:c.-8+3A>G
  • NM_001407735.1:c.-8+3A>G
  • NM_001407736.1:c.-8+8294A>G
  • NM_001407737.1:c.-8+3A>G
  • NM_001407738.1:c.-8+8294A>G
  • NM_001407739.1:c.-8+3A>G
  • NM_001407740.1:c.-8+3A>G
  • NM_001407741.1:c.-8+3A>G
  • NM_001407742.1:c.-8+8294A>G
  • NM_001407743.1:c.-8+3A>G
  • NM_001407744.1:c.-8+8294A>G
  • NM_001407745.1:c.-8+3A>G
  • NM_001407746.1:c.-124+3A>G
  • NM_001407747.1:c.-7-9190A>G
  • NM_001407748.1:c.-8+3A>G
  • NM_001407749.1:c.-124+3A>G
  • NM_001407750.1:c.-8+8294A>G
  • NM_001407751.1:c.-8+5835A>G
  • NM_001407752.1:c.-8+3A>G
  • NM_001407838.1:c.-8+3A>G
  • NM_001407839.1:c.-8+3A>G
  • NM_001407841.1:c.-8+7A>G
  • NM_001407842.1:c.-124+3A>G
  • NM_001407843.1:c.-124+3A>G
  • NM_001407844.1:c.-8+3A>G
  • NM_001407845.1:c.-8+8294A>G
  • NM_001407846.1:c.-8+3A>G
  • NM_001407847.1:c.-8+3A>G
  • NM_001407848.1:c.-8+3A>G
  • NM_001407849.1:c.-8+8294A>G
  • NM_001407850.1:c.-8+3A>G
  • NM_001407851.1:c.-8+3A>G
  • NM_001407852.1:c.-8+8294A>G
  • NM_001407853.1:c.-55+3A>G
  • NM_001407854.1:c.134+3A>G
  • NM_001407858.1:c.134+3A>G
  • NM_001407859.1:c.134+3A>G
  • NM_001407860.1:c.134+3A>G
  • NM_001407861.1:c.134+3A>G
  • NM_001407862.1:c.134+3A>G
  • NM_001407863.1:c.134+3A>G
  • NM_001407874.1:c.134+3A>G
  • NM_001407875.1:c.134+3A>G
  • NM_001407879.1:c.-55+3A>G
  • NM_001407881.1:c.-55+8294A>G
  • NM_001407882.1:c.-55+3A>G
  • NM_001407884.1:c.-55+3A>G
  • NM_001407885.1:c.-55+3A>G
  • NM_001407886.1:c.-55+3A>G
  • NM_001407887.1:c.-55+3A>G
  • NM_001407889.1:c.-171+3A>G
  • NM_001407894.1:c.-55+3A>G
  • NM_001407895.1:c.-55+3A>G
  • NM_001407896.1:c.-55+3A>G
  • NM_001407897.1:c.-55+3A>G
  • NM_001407898.1:c.-55+8294A>G
  • NM_001407899.1:c.-55+3A>G
  • NM_001407900.1:c.-171+3A>G
  • NM_001407902.1:c.-55+8294A>G
  • NM_001407904.1:c.-55+3A>G
  • NM_001407906.1:c.-55+3A>G
  • NM_001407907.1:c.-55+3A>G
  • NM_001407908.1:c.-55+3A>G
  • NM_001407909.1:c.-55+3A>G
  • NM_001407910.1:c.-55+3A>G
  • NM_001407915.1:c.-55+3A>G
  • NM_001407916.1:c.-55+3A>G
  • NM_001407917.1:c.-55+3A>G
  • NM_001407918.1:c.-55+3A>G
  • NM_001407919.1:c.134+3A>G
  • NM_001407920.1:c.-8+3A>G
  • NM_001407921.1:c.-8+3A>G
  • NM_001407922.1:c.-8+3A>G
  • NM_001407923.1:c.-8+3A>G
  • NM_001407924.1:c.-8+8294A>G
  • NM_001407925.1:c.-8+8294A>G
  • NM_001407926.1:c.-8+3A>G
  • NM_001407927.1:c.-8+3A>G
  • NM_001407928.1:c.-8+8294A>G
  • NM_001407929.1:c.-8+8294A>G
  • NM_001407930.1:c.-124+3A>G
  • NM_001407931.1:c.-7-9190A>G
  • NM_001407932.1:c.-8+8294A>G
  • NM_001407933.1:c.-8+3A>G
  • NM_001407934.1:c.-8+3A>G
  • NM_001407935.1:c.-8+3A>G
  • NM_001407936.1:c.-8+8294A>G
  • NM_001407937.1:c.134+3A>G
  • NM_001407938.1:c.134+3A>G
  • NM_001407939.1:c.134+3A>G
  • NM_001407940.1:c.134+3A>G
  • NM_001407941.1:c.134+3A>G
  • NM_001407942.1:c.-124+3A>G
  • NM_001407943.1:c.-8+3A>G
  • NM_001407944.1:c.-8+3A>G
  • NM_001407945.1:c.-8+8294A>G
  • NM_001407946.1:c.-55+3A>G
  • NM_001407947.1:c.-55+3A>G
  • NM_001407948.1:c.-55+3A>G
  • NM_001407949.1:c.-55+3A>G
  • NM_001407950.1:c.-55+3A>G
  • NM_001407951.1:c.-55+3A>G
  • NM_001407952.1:c.-55+3A>G
  • NM_001407953.1:c.-55+3A>G
  • NM_001407954.1:c.-55+3A>G
  • NM_001407955.1:c.-55+3A>G
  • NM_001407956.1:c.-55+3A>G
  • NM_001407957.1:c.-55+3A>G
  • NM_001407958.1:c.-55+3A>G
  • NM_001407959.1:c.-170+9554A>G
  • NM_001407960.1:c.-170+3A>G
  • NM_001407962.1:c.-170+3A>G
  • NM_001407963.1:c.-170+9548A>G
  • NM_001407964.1:c.-8+3A>G
  • NM_001407965.1:c.-286+3A>G
  • NM_001407966.1:c.-219+9548A>G
  • NM_001407967.1:c.-219+9554A>G
  • NM_001407968.1:c.134+3A>G
  • NM_001407969.1:c.134+3A>G
  • NM_001407970.1:c.134+3A>G
  • NM_001407971.1:c.134+3A>G
  • NM_001407972.1:c.134+3A>G
  • NM_001407973.1:c.134+3A>G
  • NM_001407974.1:c.134+3A>G
  • NM_001407975.1:c.134+3A>G
  • NM_001407976.1:c.134+3A>G
  • NM_001407977.1:c.134+3A>G
  • NM_001407978.1:c.134+3A>G
  • NM_001407979.1:c.134+3A>G
  • NM_001407980.1:c.134+3A>G
  • NM_001407981.1:c.134+3A>G
  • NM_001407982.1:c.134+3A>G
  • NM_001407983.1:c.134+3A>G
  • NM_001407984.1:c.134+3A>G
  • NM_001407985.1:c.134+3A>G
  • NM_001407986.1:c.134+3A>G
  • NM_001407990.1:c.134+3A>G
  • NM_001407991.1:c.134+3A>G
  • NM_001407992.1:c.134+3A>G
  • NM_001407993.1:c.134+3A>G
  • NM_001408392.1:c.134+3A>G
  • NM_001408396.1:c.134+3A>G
  • NM_001408397.1:c.134+3A>G
  • NM_001408398.1:c.134+3A>G
  • NM_001408399.1:c.134+3A>G
  • NM_001408400.1:c.134+3A>G
  • NM_001408401.1:c.134+3A>G
  • NM_001408402.1:c.134+3A>G
  • NM_001408403.1:c.134+3A>G
  • NM_001408404.1:c.134+3A>G
  • NM_001408406.1:c.134+3A>G
  • NM_001408407.1:c.134+3A>G
  • NM_001408408.1:c.134+3A>G
  • NM_001408409.1:c.134+3A>G
  • NM_001408410.1:c.-8+3A>G
  • NM_001408411.1:c.134+3A>G
  • NM_001408412.1:c.134+3A>G
  • NM_001408413.1:c.134+3A>G
  • NM_001408414.1:c.134+3A>G
  • NM_001408415.1:c.134+3A>G
  • NM_001408416.1:c.134+3A>G
  • NM_001408418.1:c.134+3A>G
  • NM_001408419.1:c.134+3A>G
  • NM_001408420.1:c.134+3A>G
  • NM_001408421.1:c.134+3A>G
  • NM_001408422.1:c.134+3A>G
  • NM_001408423.1:c.134+3A>G
  • NM_001408424.1:c.134+3A>G
  • NM_001408425.1:c.134+3A>G
  • NM_001408426.1:c.134+3A>G
  • NM_001408427.1:c.134+3A>G
  • NM_001408428.1:c.134+3A>G
  • NM_001408429.1:c.134+3A>G
  • NM_001408430.1:c.134+3A>G
  • NM_001408431.1:c.134+3A>G
  • NM_001408432.1:c.134+3A>G
  • NM_001408433.1:c.134+3A>G
  • NM_001408434.1:c.134+3A>G
  • NM_001408435.1:c.134+3A>G
  • NM_001408436.1:c.134+3A>G
  • NM_001408437.1:c.134+3A>G
  • NM_001408438.1:c.134+3A>G
  • NM_001408439.1:c.134+3A>G
  • NM_001408440.1:c.134+3A>G
  • NM_001408441.1:c.134+3A>G
  • NM_001408442.1:c.134+3A>G
  • NM_001408443.1:c.134+3A>G
  • NM_001408444.1:c.134+3A>G
  • NM_001408445.1:c.134+3A>G
  • NM_001408446.1:c.134+3A>G
  • NM_001408447.1:c.134+3A>G
  • NM_001408448.1:c.134+3A>G
  • NM_001408450.1:c.134+3A>G
  • NM_001408451.1:c.80+8294A>G
  • NM_001408452.1:c.-8+3A>G
  • NM_001408453.1:c.-8+3A>G
  • NM_001408454.1:c.-8+8294A>G
  • NM_001408455.1:c.-124+3A>G
  • NM_001408456.1:c.-124+3A>G
  • NM_001408457.1:c.-7-9190A>G
  • NM_001408458.1:c.-8+3A>G
  • NM_001408459.1:c.-8+8294A>G
  • NM_001408460.1:c.-8+8294A>G
  • NM_001408461.1:c.-8+8294A>G
  • NM_001408462.1:c.-8+3A>G
  • NM_001408463.1:c.-8+3A>G
  • NM_001408464.1:c.-8+8294A>G
  • NM_001408465.1:c.-128+3A>G
  • NM_001408466.1:c.-8+3A>G
  • NM_001408467.1:c.-8+8294A>G
  • NM_001408468.1:c.-124+3A>G
  • NM_001408469.1:c.-8+3A>G
  • NM_001408470.1:c.-8+3A>G
  • NM_001408472.1:c.134+3A>G
  • NM_001408473.1:c.134+3A>G
  • NM_001408474.1:c.134+3A>G
  • NM_001408475.1:c.134+3A>G
  • NM_001408476.1:c.134+3A>G
  • NM_001408478.1:c.-55+3A>G
  • NM_001408479.1:c.-55+3A>G
  • NM_001408480.1:c.-55+3A>G
  • NM_001408481.1:c.-55+3A>G
  • NM_001408482.1:c.-55+3A>G
  • NM_001408483.1:c.-55+3A>G
  • NM_001408484.1:c.-55+3A>G
  • NM_001408485.1:c.-55+3A>G
  • NM_001408489.1:c.-55+3A>G
  • NM_001408490.1:c.-55+3A>G
  • NM_001408491.1:c.-55+3A>G
  • NM_001408492.1:c.-171+3A>G
  • NM_001408493.1:c.-55+3A>G
  • NM_001408494.1:c.134+3A>G
  • NM_001408495.1:c.134+3A>G
  • NM_001408496.1:c.-8+8294A>G
  • NM_001408497.1:c.-8+3A>G
  • NM_001408498.1:c.-8+8294A>G
  • NM_001408499.1:c.-8+3A>G
  • NM_001408500.1:c.-8+3A>G
  • NM_001408501.1:c.-124+3A>G
  • NM_001408502.1:c.-55+3A>G
  • NM_001408503.1:c.-8+3A>G
  • NM_001408504.1:c.-8+3A>G
  • NM_001408505.1:c.-8+3A>G
  • NM_001408506.1:c.-55+3A>G
  • NM_001408507.1:c.-55+3A>G
  • NM_001408508.1:c.-55+3A>G
  • NM_001408509.1:c.-55+3A>G
  • NM_001408510.1:c.-170+3A>G
  • NM_001408511.1:c.-7-9190A>G
  • NM_001408512.1:c.-170+3A>G
  • NM_001408513.1:c.-55+3A>G
  • NM_001408514.1:c.-55+3A>G
  • NM_007294.4:c.134+3A>GMANE SELECT
  • NM_007297.4:c.-8+8294A>G
  • NM_007298.4:c.134+3A>G
  • NM_007299.4:c.134+3A>G
  • NM_007300.4:c.134+3A>G
  • LRG_292t1:c.134+3A>G
  • LRG_292:g.102261A>G
  • NC_000017.10:g.41267740T>C
  • NM_007294.3:c.134+3A>G
Links:
dbSNP: rs80358064
NCBI 1000 Genomes Browser:
rs80358064
Molecular consequence:
  • NM_001407571.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.-7-9190A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.-128+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.-8+5835A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.-7-9190A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.-8+5835A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.-8+7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.-55+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.-171+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.-55+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.-171+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.-55+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.-7-9190A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.-170+9554A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.-170+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.-170+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.-170+9548A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.-286+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-219+9548A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-219+9554A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.80+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.-7-9190A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.-128+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.-171+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.-170+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.-7-9190A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.-170+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000591242Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591242.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRCA1 c.134+3A>G variant was not identified in the literature nor was it identified in the dbSNP, NHLBI Exome Sequencing Project (Exome Variant Server), Exome Aggregation Consortium (ExAC) database, HGMD, Clinvitae database , LOVD, COSMIC, the ClinVar database , GeneInsight COGR database, the BIC database and UMD. The c.134+3A>G variant is located in the 5' splice region but does not affect the invariant +1 and +2 positions. However, positions +3 to +6 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. In addition, 2 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance.

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

Last Updated: Jun 23, 2024