NM_007294.4(BRCA1):c.134+3A>G AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 6, 2016
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000569187.4
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
This HGVS expression did not pass validation- 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)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.134+3A>G, a SPLICE REGION variant, produced a function score of -0.06, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000673042 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Oct 6, 2016) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV000673042.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.134+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 2 in the BRCA1 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.0003% (greater than 300000 alleles tested) in our clinical cohort. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jun 23, 2024