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NM_007294.4(BRCA1):c.442-2A>G AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 2024
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:
RCV002329294.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.442-2A>G]

NM_007294.4(BRCA1):c.442-2A>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.442-2A>G
HGVS:
  • NC_000017.11:g.43099882T>C
  • NG_005905.2:g.118102A>G
  • NM_001407571.1:c.232-5A>G
  • NM_001407581.1:c.442-2A>G
  • NM_001407582.1:c.442-2A>G
  • NM_001407583.1:c.442-2A>G
  • NM_001407585.1:c.442-2A>G
  • NM_001407587.1:c.442-5A>G
  • NM_001407590.1:c.442-5A>G
  • NM_001407591.1:c.442-5A>G
  • NM_001407593.1:c.442-2A>G
  • NM_001407594.1:c.442-2A>G
  • NM_001407596.1:c.442-2A>G
  • NM_001407597.1:c.442-2A>G
  • NM_001407598.1:c.442-2A>G
  • NM_001407602.1:c.442-2A>G
  • NM_001407603.1:c.442-2A>G
  • NM_001407605.1:c.442-2A>G
  • NM_001407610.1:c.442-5A>G
  • NM_001407611.1:c.442-5A>G
  • NM_001407612.1:c.442-5A>G
  • NM_001407613.1:c.442-5A>G
  • NM_001407614.1:c.442-5A>G
  • NM_001407615.1:c.442-5A>G
  • NM_001407616.1:c.442-2A>G
  • NM_001407617.1:c.442-2A>G
  • NM_001407618.1:c.442-2A>G
  • NM_001407619.1:c.442-2A>G
  • NM_001407620.1:c.442-2A>G
  • NM_001407621.1:c.442-2A>G
  • NM_001407622.1:c.442-2A>G
  • NM_001407623.1:c.442-2A>G
  • NM_001407624.1:c.442-2A>G
  • NM_001407625.1:c.442-2A>G
  • NM_001407626.1:c.442-2A>G
  • NM_001407627.1:c.442-5A>G
  • NM_001407628.1:c.442-5A>G
  • NM_001407629.1:c.442-5A>G
  • NM_001407630.1:c.442-5A>G
  • NM_001407631.1:c.442-5A>G
  • NM_001407632.1:c.442-5A>G
  • NM_001407633.1:c.442-5A>G
  • NM_001407634.1:c.442-5A>G
  • NM_001407635.1:c.442-5A>G
  • NM_001407636.1:c.442-5A>G
  • NM_001407637.1:c.442-5A>G
  • NM_001407638.1:c.442-5A>G
  • NM_001407639.1:c.442-2A>G
  • NM_001407640.1:c.442-2A>G
  • NM_001407641.1:c.442-2A>G
  • NM_001407642.1:c.442-2A>G
  • NM_001407644.1:c.442-5A>G
  • NM_001407645.1:c.442-5A>G
  • NM_001407646.1:c.433-2A>G
  • NM_001407647.1:c.433-2A>G
  • NM_001407648.1:c.442-2A>G
  • NM_001407649.1:c.442-5A>G
  • NM_001407652.1:c.442-2A>G
  • NM_001407653.1:c.364-2A>G
  • NM_001407654.1:c.364-2A>G
  • NM_001407655.1:c.364-2A>G
  • NM_001407656.1:c.364-2A>G
  • NM_001407657.1:c.364-2A>G
  • NM_001407658.1:c.364-2A>G
  • NM_001407659.1:c.364-5A>G
  • NM_001407660.1:c.364-5A>G
  • NM_001407661.1:c.364-5A>G
  • NM_001407662.1:c.364-5A>G
  • NM_001407663.1:c.364-2A>G
  • NM_001407664.1:c.442-2A>G
  • NM_001407665.1:c.442-2A>G
  • NM_001407666.1:c.442-2A>G
  • NM_001407667.1:c.442-2A>G
  • NM_001407668.1:c.442-2A>G
  • NM_001407669.1:c.442-2A>G
  • NM_001407670.1:c.442-5A>G
  • NM_001407671.1:c.442-5A>G
  • NM_001407672.1:c.442-5A>G
  • NM_001407673.1:c.442-5A>G
  • NM_001407674.1:c.442-2A>G
  • NM_001407675.1:c.442-2A>G
  • NM_001407676.1:c.442-2A>G
  • NM_001407677.1:c.442-2A>G
  • NM_001407678.1:c.442-2A>G
  • NM_001407679.1:c.442-2A>G
  • NM_001407680.1:c.442-2A>G
  • NM_001407681.1:c.442-2A>G
  • NM_001407682.1:c.442-2A>G
  • NM_001407683.1:c.442-2A>G
  • NM_001407684.1:c.442-2A>G
  • NM_001407685.1:c.442-5A>G
  • NM_001407686.1:c.442-5A>G
  • NM_001407687.1:c.442-5A>G
  • NM_001407688.1:c.442-5A>G
  • NM_001407689.1:c.442-5A>G
  • NM_001407690.1:c.442-5A>G
  • NM_001407691.1:c.442-5A>G
  • NM_001407692.1:c.301-2A>G
  • NM_001407694.1:c.301-2A>G
  • NM_001407695.1:c.301-2A>G
  • NM_001407696.1:c.301-2A>G
  • NM_001407697.1:c.301-2A>G
  • NM_001407698.1:c.301-2A>G
  • NM_001407724.1:c.301-2A>G
  • NM_001407725.1:c.301-2A>G
  • NM_001407726.1:c.301-2A>G
  • NM_001407727.1:c.301-2A>G
  • NM_001407728.1:c.301-2A>G
  • NM_001407729.1:c.301-2A>G
  • NM_001407730.1:c.301-2A>G
  • NM_001407731.1:c.301-2A>G
  • NM_001407732.1:c.301-2A>G
  • NM_001407733.1:c.301-2A>G
  • NM_001407734.1:c.301-2A>G
  • NM_001407735.1:c.301-2A>G
  • NM_001407736.1:c.301-2A>G
  • NM_001407737.1:c.301-2A>G
  • NM_001407738.1:c.301-2A>G
  • NM_001407739.1:c.301-2A>G
  • NM_001407740.1:c.301-5A>G
  • NM_001407741.1:c.301-5A>G
  • NM_001407742.1:c.301-5A>G
  • NM_001407743.1:c.301-5A>G
  • NM_001407744.1:c.301-5A>G
  • NM_001407745.1:c.301-5A>G
  • NM_001407746.1:c.301-5A>G
  • NM_001407747.1:c.301-5A>G
  • NM_001407748.1:c.301-5A>G
  • NM_001407749.1:c.301-5A>G
  • NM_001407750.1:c.301-2A>G
  • NM_001407751.1:c.301-2A>G
  • NM_001407752.1:c.301-2A>G
  • NM_001407838.1:c.301-5A>G
  • NM_001407839.1:c.301-5A>G
  • NM_001407841.1:c.301-5A>G
  • NM_001407842.1:c.301-5A>G
  • NM_001407843.1:c.301-5A>G
  • NM_001407844.1:c.301-5A>G
  • NM_001407845.1:c.301-5A>G
  • NM_001407846.1:c.301-5A>G
  • NM_001407847.1:c.301-5A>G
  • NM_001407848.1:c.301-5A>G
  • NM_001407849.1:c.301-5A>G
  • NM_001407850.1:c.301-2A>G
  • NM_001407851.1:c.301-2A>G
  • NM_001407852.1:c.301-2A>G
  • NM_001407853.1:c.232-5A>G
  • NM_001407854.1:c.442-2A>G
  • NM_001407858.1:c.442-2A>G
  • NM_001407859.1:c.442-2A>G
  • NM_001407860.1:c.442-5A>G
  • NM_001407861.1:c.442-5A>G
  • NM_001407862.1:c.364-2A>G
  • NM_001407863.1:c.442-2A>G
  • NM_001407874.1:c.364-5A>G
  • NM_001407875.1:c.364-5A>G
  • NM_001407879.1:c.232-2A>G
  • NM_001407881.1:c.232-2A>G
  • NM_001407882.1:c.232-2A>G
  • NM_001407884.1:c.232-2A>G
  • NM_001407885.1:c.232-2A>G
  • NM_001407886.1:c.232-2A>G
  • NM_001407887.1:c.232-2A>G
  • NM_001407889.1:c.232-2A>G
  • NM_001407894.1:c.232-5A>G
  • NM_001407895.1:c.232-5A>G
  • NM_001407896.1:c.232-5A>G
  • NM_001407897.1:c.232-5A>G
  • NM_001407898.1:c.232-5A>G
  • NM_001407899.1:c.232-5A>G
  • NM_001407900.1:c.232-2A>G
  • NM_001407902.1:c.232-2A>G
  • NM_001407904.1:c.232-2A>G
  • NM_001407906.1:c.232-2A>G
  • NM_001407907.1:c.232-2A>G
  • NM_001407908.1:c.232-2A>G
  • NM_001407909.1:c.232-2A>G
  • NM_001407910.1:c.232-2A>G
  • NM_001407915.1:c.232-5A>G
  • NM_001407916.1:c.232-5A>G
  • NM_001407917.1:c.232-5A>G
  • NM_001407918.1:c.232-5A>G
  • NM_001407919.1:c.442-2A>G
  • NM_001407920.1:c.301-2A>G
  • NM_001407921.1:c.301-2A>G
  • NM_001407922.1:c.301-2A>G
  • NM_001407923.1:c.301-2A>G
  • NM_001407924.1:c.301-2A>G
  • NM_001407925.1:c.301-2A>G
  • NM_001407926.1:c.301-2A>G
  • NM_001407927.1:c.301-2A>G
  • NM_001407928.1:c.301-2A>G
  • NM_001407929.1:c.301-2A>G
  • NM_001407930.1:c.301-5A>G
  • NM_001407931.1:c.301-5A>G
  • NM_001407932.1:c.301-5A>G
  • NM_001407933.1:c.301-2A>G
  • NM_001407934.1:c.301-5A>G
  • NM_001407935.1:c.301-2A>G
  • NM_001407936.1:c.301-5A>G
  • NM_001407937.1:c.442-2A>G
  • NM_001407938.1:c.442-2A>G
  • NM_001407939.1:c.442-2A>G
  • NM_001407940.1:c.442-5A>G
  • NM_001407941.1:c.442-5A>G
  • NM_001407942.1:c.301-2A>G
  • NM_001407943.1:c.301-5A>G
  • NM_001407944.1:c.301-2A>G
  • NM_001407945.1:c.301-2A>G
  • NM_001407946.1:c.232-2A>G
  • NM_001407947.1:c.232-2A>G
  • NM_001407948.1:c.232-2A>G
  • NM_001407949.1:c.232-2A>G
  • NM_001407950.1:c.232-2A>G
  • NM_001407951.1:c.232-2A>G
  • NM_001407952.1:c.232-2A>G
  • NM_001407953.1:c.232-2A>G
  • NM_001407954.1:c.232-5A>G
  • NM_001407955.1:c.232-5A>G
  • NM_001407956.1:c.232-5A>G
  • NM_001407957.1:c.232-2A>G
  • NM_001407958.1:c.232-5A>G
  • NM_001407959.1:c.61-2A>G
  • NM_001407960.1:c.61-2A>G
  • NM_001407962.1:c.61-5A>G
  • NM_001407963.1:c.61-2A>G
  • NM_001407964.1:c.301-5A>G
  • NM_001407965.1:c.61-2A>G
  • NM_001407966.1:c.-218-5022A>G
  • NM_001407967.1:c.-218-5022A>G
  • NM_001407968.1:c.442-2A>G
  • NM_001407969.1:c.442-2A>G
  • NM_001407970.1:c.442-2A>G
  • NM_001407971.1:c.442-2A>G
  • NM_001407972.1:c.442-5A>G
  • NM_001407973.1:c.442-2A>G
  • NM_001407974.1:c.442-2A>G
  • NM_001407975.1:c.442-2A>G
  • NM_001407976.1:c.442-2A>G
  • NM_001407977.1:c.442-2A>G
  • NM_001407978.1:c.442-2A>G
  • NM_001407979.1:c.442-2A>G
  • NM_001407980.1:c.442-2A>G
  • NM_001407981.1:c.442-2A>G
  • NM_001407982.1:c.442-2A>G
  • NM_001407983.1:c.442-2A>G
  • NM_001407984.1:c.442-5A>G
  • NM_001407985.1:c.442-5A>G
  • NM_001407986.1:c.442-5A>G
  • NM_001407990.1:c.442-2A>G
  • NM_001407991.1:c.442-5A>G
  • NM_001407992.1:c.442-5A>G
  • NM_001407993.1:c.442-2A>G
  • NM_001408392.1:c.442-5A>G
  • NM_001408396.1:c.442-5A>G
  • NM_001408397.1:c.442-5A>G
  • NM_001408398.1:c.442-5A>G
  • NM_001408399.1:c.442-5A>G
  • NM_001408400.1:c.442-5A>G
  • NM_001408401.1:c.442-5A>G
  • NM_001408402.1:c.442-5A>G
  • NM_001408403.1:c.442-2A>G
  • NM_001408404.1:c.442-2A>G
  • NM_001408406.1:c.442-2A>G
  • NM_001408407.1:c.442-5A>G
  • NM_001408408.1:c.433-2A>G
  • NM_001408409.1:c.364-2A>G
  • NM_001408410.1:c.301-2A>G
  • NM_001408411.1:c.364-2A>G
  • NM_001408412.1:c.364-2A>G
  • NM_001408413.1:c.364-5A>G
  • NM_001408414.1:c.364-2A>G
  • NM_001408415.1:c.364-2A>G
  • NM_001408416.1:c.364-5A>G
  • NM_001408418.1:c.442-2A>G
  • NM_001408419.1:c.442-2A>G
  • NM_001408420.1:c.442-2A>G
  • NM_001408421.1:c.442-5A>G
  • NM_001408422.1:c.442-2A>G
  • NM_001408423.1:c.442-2A>G
  • NM_001408424.1:c.442-5A>G
  • NM_001408425.1:c.442-2A>G
  • NM_001408426.1:c.442-2A>G
  • NM_001408427.1:c.442-2A>G
  • NM_001408428.1:c.442-2A>G
  • NM_001408429.1:c.442-2A>G
  • NM_001408430.1:c.442-2A>G
  • NM_001408431.1:c.442-5A>G
  • NM_001408432.1:c.442-5A>G
  • NM_001408433.1:c.442-5A>G
  • NM_001408434.1:c.442-5A>G
  • NM_001408435.1:c.442-5A>G
  • NM_001408436.1:c.442-2A>G
  • NM_001408437.1:c.442-2A>G
  • NM_001408438.1:c.442-2A>G
  • NM_001408439.1:c.442-2A>G
  • NM_001408440.1:c.442-2A>G
  • NM_001408441.1:c.442-2A>G
  • NM_001408442.1:c.442-2A>G
  • NM_001408443.1:c.442-2A>G
  • NM_001408444.1:c.442-2A>G
  • NM_001408445.1:c.442-5A>G
  • NM_001408446.1:c.442-5A>G
  • NM_001408447.1:c.442-5A>G
  • NM_001408448.1:c.442-5A>G
  • NM_001408450.1:c.442-5A>G
  • NM_001408451.1:c.310-5A>G
  • NM_001408452.1:c.301-2A>G
  • NM_001408453.1:c.301-2A>G
  • NM_001408454.1:c.301-2A>G
  • NM_001408455.1:c.301-2A>G
  • NM_001408456.1:c.301-2A>G
  • NM_001408457.1:c.301-2A>G
  • NM_001408458.1:c.301-2A>G
  • NM_001408459.1:c.301-2A>G
  • NM_001408460.1:c.301-2A>G
  • NM_001408461.1:c.301-2A>G
  • NM_001408462.1:c.301-5A>G
  • NM_001408463.1:c.301-5A>G
  • NM_001408464.1:c.301-5A>G
  • NM_001408465.1:c.301-5A>G
  • NM_001408466.1:c.301-2A>G
  • NM_001408467.1:c.301-2A>G
  • NM_001408468.1:c.301-5A>G
  • NM_001408469.1:c.301-2A>G
  • NM_001408470.1:c.301-5A>G
  • NM_001408472.1:c.442-2A>G
  • NM_001408473.1:c.442-5A>G
  • NM_001408474.1:c.364-2A>G
  • NM_001408475.1:c.364-5A>G
  • NM_001408476.1:c.364-2A>G
  • NM_001408478.1:c.232-2A>G
  • NM_001408479.1:c.232-2A>G
  • NM_001408480.1:c.232-2A>G
  • NM_001408481.1:c.232-2A>G
  • NM_001408482.1:c.232-2A>G
  • NM_001408483.1:c.232-2A>G
  • NM_001408484.1:c.232-2A>G
  • NM_001408485.1:c.232-2A>G
  • NM_001408489.1:c.232-2A>G
  • NM_001408490.1:c.232-5A>G
  • NM_001408491.1:c.232-5A>G
  • NM_001408492.1:c.232-2A>G
  • NM_001408493.1:c.232-5A>G
  • NM_001408494.1:c.442-2A>G
  • NM_001408495.1:c.442-5A>G
  • NM_001408496.1:c.301-2A>G
  • NM_001408497.1:c.301-2A>G
  • NM_001408498.1:c.301-2A>G
  • NM_001408499.1:c.301-2A>G
  • NM_001408500.1:c.301-2A>G
  • NM_001408501.1:c.301-2A>G
  • NM_001408502.1:c.232-2A>G
  • NM_001408503.1:c.301-5A>G
  • NM_001408504.1:c.301-5A>G
  • NM_001408505.1:c.301-5A>G
  • NM_001408506.1:c.232-2A>G
  • NM_001408507.1:c.232-2A>G
  • NM_001408508.1:c.232-5A>G
  • NM_001408509.1:c.232-5A>G
  • NM_001408510.1:c.61-2A>G
  • NM_001408511.1:c.301-5A>G
  • NM_001408512.1:c.61-2A>G
  • NM_001408513.1:c.232-2A>G
  • NM_001408514.1:c.232-2A>G
  • NM_007294.4:c.442-2A>GMANE SELECT
  • NM_007297.4:c.301-2A>G
  • NM_007298.4:c.442-2A>G
  • NM_007299.4:c.442-2A>G
  • NM_007300.4:c.442-2A>G
  • LRG_292:g.118102A>G
  • NC_000017.10:g.41251899T>C
  • NM_007294.3:c.442-2A>G
Links:
dbSNP: rs80358155
NCBI 1000 Genomes Browser:
rs80358155
Molecular consequence:
  • NM_001407571.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.61-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-218-5022A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-218-5022A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.310-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.364-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.442-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.232-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.301-5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407582.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407583.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407585.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407593.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407594.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407596.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407597.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407598.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407602.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407603.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407605.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407616.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407617.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407618.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407619.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407620.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407621.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407622.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407623.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407624.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407625.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407626.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407639.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407640.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407641.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407642.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407646.1:c.433-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407647.1:c.433-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407648.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407652.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407653.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407654.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407655.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407656.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407657.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407658.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407663.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407664.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407665.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407666.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407667.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407668.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407669.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407674.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407675.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407676.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407677.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407678.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407679.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407680.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407681.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407682.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407683.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407684.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407692.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407694.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407695.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407696.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407697.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407698.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407724.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407725.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407726.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407727.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407728.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407729.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407730.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407731.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407732.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407733.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407734.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407735.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407736.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407737.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407738.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407739.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407750.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407751.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407752.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407850.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407851.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407852.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407854.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407858.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407859.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407862.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407863.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407879.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407881.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407882.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407884.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407885.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407886.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407887.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407889.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407900.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407902.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407904.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407906.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407907.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407908.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407909.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407910.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407919.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407920.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407921.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407922.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407923.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407924.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407925.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407926.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407927.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407928.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407929.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407933.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407935.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407937.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407938.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407939.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407942.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407944.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407945.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407946.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407947.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407948.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407949.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407950.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407951.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407952.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407953.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407957.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407959.1:c.61-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407960.1:c.61-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407963.1:c.61-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407965.1:c.61-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407968.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407969.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407970.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407971.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407973.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407974.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407975.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407976.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407977.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407978.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407979.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407980.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407981.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407982.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407983.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407990.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407993.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408403.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408404.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408406.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408408.1:c.433-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408409.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408410.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408411.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408412.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408414.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408415.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408418.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408419.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408420.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408422.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408423.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408425.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408426.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408427.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408428.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408429.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408430.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408436.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408437.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408438.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408439.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408440.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408441.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408442.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408443.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408444.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408452.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408453.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408454.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408455.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408456.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408457.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408458.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408459.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408460.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408461.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408466.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408467.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408469.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408472.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408474.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408476.1:c.364-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408478.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408479.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408480.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408481.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408482.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408483.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408484.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408485.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408489.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408492.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408494.1:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408496.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408497.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408498.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408499.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408500.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408501.1:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408502.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408506.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408507.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408510.1:c.61-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408512.1:c.61-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408513.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408514.1:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007294.4:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007297.4:c.301-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007298.4:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007299.4:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007300.4:c.442-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV002629208Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 28, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002629208.2

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

Description

The c.442-2A>G intronic variant results from an A to G substitution two nucleotides upstream from coding exon 6 in the BRCA1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site. RNA studies have demonstrated that this alteration results in a transcript predicted to lead to a protein with an in-frame deletion of one amino acid; however, the exact functional impact of the deleted amino acid is unknown at this time (Ambry internal data). This single amino acid loss is a naturally occurring isoform and may be referred to as Δ8p in some literature (Colombo M et al. Hum Mol Genet. 2014; 23:3666-80). Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Aug 18, 2024