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NM_007294.4(BRCA1):c.441+2T>C AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 17, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000562527.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.441+2T>C]

NM_007294.4(BRCA1):c.441+2T>C

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.441+2T>C
HGVS:
  • NC_000017.11:g.43104120A>G
  • NG_005905.2:g.113864T>C
  • NM_001407571.1:c.231+2T>C
  • NM_001407581.1:c.441+2T>C
  • NM_001407582.1:c.441+2T>C
  • NM_001407583.1:c.441+2T>C
  • NM_001407585.1:c.441+2T>C
  • NM_001407587.1:c.441+2T>C
  • NM_001407590.1:c.441+2T>C
  • NM_001407591.1:c.441+2T>C
  • NM_001407593.1:c.441+2T>C
  • NM_001407594.1:c.441+2T>C
  • NM_001407596.1:c.441+2T>C
  • NM_001407597.1:c.441+2T>C
  • NM_001407598.1:c.441+2T>C
  • NM_001407602.1:c.441+2T>C
  • NM_001407603.1:c.441+2T>C
  • NM_001407605.1:c.441+2T>C
  • NM_001407610.1:c.441+2T>C
  • NM_001407611.1:c.441+2T>C
  • NM_001407612.1:c.441+2T>C
  • NM_001407613.1:c.441+2T>C
  • NM_001407614.1:c.441+2T>C
  • NM_001407615.1:c.441+2T>C
  • NM_001407616.1:c.441+2T>C
  • NM_001407617.1:c.441+2T>C
  • NM_001407618.1:c.441+2T>C
  • NM_001407619.1:c.441+2T>C
  • NM_001407620.1:c.441+2T>C
  • NM_001407621.1:c.441+2T>C
  • NM_001407622.1:c.441+2T>C
  • NM_001407623.1:c.441+2T>C
  • NM_001407624.1:c.441+2T>C
  • NM_001407625.1:c.441+2T>C
  • NM_001407626.1:c.441+2T>C
  • NM_001407627.1:c.441+2T>C
  • NM_001407628.1:c.441+2T>C
  • NM_001407629.1:c.441+2T>C
  • NM_001407630.1:c.441+2T>C
  • NM_001407631.1:c.441+2T>C
  • NM_001407632.1:c.441+2T>C
  • NM_001407633.1:c.441+2T>C
  • NM_001407634.1:c.441+2T>C
  • NM_001407635.1:c.441+2T>C
  • NM_001407636.1:c.441+2T>C
  • NM_001407637.1:c.441+2T>C
  • NM_001407638.1:c.441+2T>C
  • NM_001407639.1:c.441+2T>C
  • NM_001407640.1:c.441+2T>C
  • NM_001407641.1:c.441+2T>C
  • NM_001407642.1:c.441+2T>C
  • NM_001407644.1:c.441+2T>C
  • NM_001407645.1:c.441+2T>C
  • NM_001407646.1:c.432+2T>C
  • NM_001407647.1:c.432+2T>C
  • NM_001407648.1:c.441+2T>C
  • NM_001407649.1:c.441+2T>C
  • NM_001407652.1:c.441+2T>C
  • NM_001407653.1:c.363+2T>C
  • NM_001407654.1:c.363+2T>C
  • NM_001407655.1:c.363+2T>C
  • NM_001407656.1:c.363+2T>C
  • NM_001407657.1:c.363+2T>C
  • NM_001407658.1:c.363+2T>C
  • NM_001407659.1:c.363+2T>C
  • NM_001407660.1:c.363+2T>C
  • NM_001407661.1:c.363+2T>C
  • NM_001407662.1:c.363+2T>C
  • NM_001407663.1:c.363+2T>C
  • NM_001407664.1:c.441+2T>C
  • NM_001407665.1:c.441+2T>C
  • NM_001407666.1:c.441+2T>C
  • NM_001407667.1:c.441+2T>C
  • NM_001407668.1:c.441+2T>C
  • NM_001407669.1:c.441+2T>C
  • NM_001407670.1:c.441+2T>C
  • NM_001407671.1:c.441+2T>C
  • NM_001407672.1:c.441+2T>C
  • NM_001407673.1:c.441+2T>C
  • NM_001407674.1:c.441+2T>C
  • NM_001407675.1:c.441+2T>C
  • NM_001407676.1:c.441+2T>C
  • NM_001407677.1:c.441+2T>C
  • NM_001407678.1:c.441+2T>C
  • NM_001407679.1:c.441+2T>C
  • NM_001407680.1:c.441+2T>C
  • NM_001407681.1:c.441+2T>C
  • NM_001407682.1:c.441+2T>C
  • NM_001407683.1:c.441+2T>C
  • NM_001407684.1:c.441+2T>C
  • NM_001407685.1:c.441+2T>C
  • NM_001407686.1:c.441+2T>C
  • NM_001407687.1:c.441+2T>C
  • NM_001407688.1:c.441+2T>C
  • NM_001407689.1:c.441+2T>C
  • NM_001407690.1:c.441+2T>C
  • NM_001407691.1:c.441+2T>C
  • NM_001407692.1:c.300+2T>C
  • NM_001407694.1:c.300+2T>C
  • NM_001407695.1:c.300+2T>C
  • NM_001407696.1:c.300+2T>C
  • NM_001407697.1:c.300+2T>C
  • NM_001407698.1:c.300+2T>C
  • NM_001407724.1:c.300+2T>C
  • NM_001407725.1:c.300+2T>C
  • NM_001407726.1:c.300+2T>C
  • NM_001407727.1:c.300+2T>C
  • NM_001407728.1:c.300+2T>C
  • NM_001407729.1:c.300+2T>C
  • NM_001407730.1:c.300+2T>C
  • NM_001407731.1:c.300+2T>C
  • NM_001407732.1:c.300+2T>C
  • NM_001407733.1:c.300+2T>C
  • NM_001407734.1:c.300+2T>C
  • NM_001407735.1:c.300+2T>C
  • NM_001407736.1:c.300+2T>C
  • NM_001407737.1:c.300+2T>C
  • NM_001407738.1:c.300+2T>C
  • NM_001407739.1:c.300+2T>C
  • NM_001407740.1:c.300+2T>C
  • NM_001407741.1:c.300+2T>C
  • NM_001407742.1:c.300+2T>C
  • NM_001407743.1:c.300+2T>C
  • NM_001407744.1:c.300+2T>C
  • NM_001407745.1:c.300+2T>C
  • NM_001407746.1:c.300+2T>C
  • NM_001407747.1:c.300+2T>C
  • NM_001407748.1:c.300+2T>C
  • NM_001407749.1:c.300+2T>C
  • NM_001407750.1:c.300+2T>C
  • NM_001407751.1:c.300+2T>C
  • NM_001407752.1:c.300+2T>C
  • NM_001407838.1:c.300+2T>C
  • NM_001407839.1:c.300+2T>C
  • NM_001407841.1:c.300+2T>C
  • NM_001407842.1:c.300+2T>C
  • NM_001407843.1:c.300+2T>C
  • NM_001407844.1:c.300+2T>C
  • NM_001407845.1:c.300+2T>C
  • NM_001407846.1:c.300+2T>C
  • NM_001407847.1:c.300+2T>C
  • NM_001407848.1:c.300+2T>C
  • NM_001407849.1:c.300+2T>C
  • NM_001407850.1:c.300+2T>C
  • NM_001407851.1:c.300+2T>C
  • NM_001407852.1:c.300+2T>C
  • NM_001407853.1:c.231+2T>C
  • NM_001407854.1:c.441+2T>C
  • NM_001407858.1:c.441+2T>C
  • NM_001407859.1:c.441+2T>C
  • NM_001407860.1:c.441+2T>C
  • NM_001407861.1:c.441+2T>C
  • NM_001407862.1:c.363+2T>C
  • NM_001407863.1:c.441+2T>C
  • NM_001407874.1:c.363+2T>C
  • NM_001407875.1:c.363+2T>C
  • NM_001407879.1:c.231+2T>C
  • NM_001407881.1:c.231+2T>C
  • NM_001407882.1:c.231+2T>C
  • NM_001407884.1:c.231+2T>C
  • NM_001407885.1:c.231+2T>C
  • NM_001407886.1:c.231+2T>C
  • NM_001407887.1:c.231+2T>C
  • NM_001407889.1:c.231+2T>C
  • NM_001407894.1:c.231+2T>C
  • NM_001407895.1:c.231+2T>C
  • NM_001407896.1:c.231+2T>C
  • NM_001407897.1:c.231+2T>C
  • NM_001407898.1:c.231+2T>C
  • NM_001407899.1:c.231+2T>C
  • NM_001407900.1:c.231+2T>C
  • NM_001407902.1:c.231+2T>C
  • NM_001407904.1:c.231+2T>C
  • NM_001407906.1:c.231+2T>C
  • NM_001407907.1:c.231+2T>C
  • NM_001407908.1:c.231+2T>C
  • NM_001407909.1:c.231+2T>C
  • NM_001407910.1:c.231+2T>C
  • NM_001407915.1:c.231+2T>C
  • NM_001407916.1:c.231+2T>C
  • NM_001407917.1:c.231+2T>C
  • NM_001407918.1:c.231+2T>C
  • NM_001407919.1:c.441+2T>C
  • NM_001407920.1:c.300+2T>C
  • NM_001407921.1:c.300+2T>C
  • NM_001407922.1:c.300+2T>C
  • NM_001407923.1:c.300+2T>C
  • NM_001407924.1:c.300+2T>C
  • NM_001407925.1:c.300+2T>C
  • NM_001407926.1:c.300+2T>C
  • NM_001407927.1:c.300+2T>C
  • NM_001407928.1:c.300+2T>C
  • NM_001407929.1:c.300+2T>C
  • NM_001407930.1:c.300+2T>C
  • NM_001407931.1:c.300+2T>C
  • NM_001407932.1:c.300+2T>C
  • NM_001407933.1:c.300+2T>C
  • NM_001407934.1:c.300+2T>C
  • NM_001407935.1:c.300+2T>C
  • NM_001407936.1:c.300+2T>C
  • NM_001407937.1:c.441+2T>C
  • NM_001407938.1:c.441+2T>C
  • NM_001407939.1:c.441+2T>C
  • NM_001407940.1:c.441+2T>C
  • NM_001407941.1:c.441+2T>C
  • NM_001407942.1:c.300+2T>C
  • NM_001407943.1:c.300+2T>C
  • NM_001407944.1:c.300+2T>C
  • NM_001407945.1:c.300+2T>C
  • NM_001407946.1:c.231+2T>C
  • NM_001407947.1:c.231+2T>C
  • NM_001407948.1:c.231+2T>C
  • NM_001407949.1:c.231+2T>C
  • NM_001407950.1:c.231+2T>C
  • NM_001407951.1:c.231+2T>C
  • NM_001407952.1:c.231+2T>C
  • NM_001407953.1:c.231+2T>C
  • NM_001407954.1:c.231+2T>C
  • NM_001407955.1:c.231+2T>C
  • NM_001407956.1:c.231+2T>C
  • NM_001407957.1:c.231+2T>C
  • NM_001407958.1:c.231+2T>C
  • NM_001407959.1:c.60+2T>C
  • NM_001407960.1:c.60+2T>C
  • NM_001407962.1:c.60+2T>C
  • NM_001407963.1:c.60+2T>C
  • NM_001407964.1:c.300+2T>C
  • NM_001407965.1:c.60+2T>C
  • NM_001407966.1:c.-218-9260T>C
  • NM_001407967.1:c.-218-9260T>C
  • NM_001407968.1:c.441+2T>C
  • NM_001407969.1:c.441+2T>C
  • NM_001407970.1:c.441+2T>C
  • NM_001407971.1:c.441+2T>C
  • NM_001407972.1:c.441+2T>C
  • NM_001407973.1:c.441+2T>C
  • NM_001407974.1:c.441+2T>C
  • NM_001407975.1:c.441+2T>C
  • NM_001407976.1:c.441+2T>C
  • NM_001407977.1:c.441+2T>C
  • NM_001407978.1:c.441+2T>C
  • NM_001407979.1:c.441+2T>C
  • NM_001407980.1:c.441+2T>C
  • NM_001407981.1:c.441+2T>C
  • NM_001407982.1:c.441+2T>C
  • NM_001407983.1:c.441+2T>C
  • NM_001407984.1:c.441+2T>C
  • NM_001407985.1:c.441+2T>C
  • NM_001407986.1:c.441+2T>C
  • NM_001407990.1:c.441+2T>C
  • NM_001407991.1:c.441+2T>C
  • NM_001407992.1:c.441+2T>C
  • NM_001407993.1:c.441+2T>C
  • NM_001408392.1:c.441+2T>C
  • NM_001408396.1:c.441+2T>C
  • NM_001408397.1:c.441+2T>C
  • NM_001408398.1:c.441+2T>C
  • NM_001408399.1:c.441+2T>C
  • NM_001408400.1:c.441+2T>C
  • NM_001408401.1:c.441+2T>C
  • NM_001408402.1:c.441+2T>C
  • NM_001408403.1:c.441+2T>C
  • NM_001408404.1:c.441+2T>C
  • NM_001408406.1:c.441+2T>C
  • NM_001408407.1:c.441+2T>C
  • NM_001408408.1:c.432+2T>C
  • NM_001408409.1:c.363+2T>C
  • NM_001408410.1:c.300+2T>C
  • NM_001408411.1:c.363+2T>C
  • NM_001408412.1:c.363+2T>C
  • NM_001408413.1:c.363+2T>C
  • NM_001408414.1:c.363+2T>C
  • NM_001408415.1:c.363+2T>C
  • NM_001408416.1:c.363+2T>C
  • NM_001408418.1:c.441+2T>C
  • NM_001408419.1:c.441+2T>C
  • NM_001408420.1:c.441+2T>C
  • NM_001408421.1:c.441+2T>C
  • NM_001408422.1:c.441+2T>C
  • NM_001408423.1:c.441+2T>C
  • NM_001408424.1:c.441+2T>C
  • NM_001408425.1:c.441+2T>C
  • NM_001408426.1:c.441+2T>C
  • NM_001408427.1:c.441+2T>C
  • NM_001408428.1:c.441+2T>C
  • NM_001408429.1:c.441+2T>C
  • NM_001408430.1:c.441+2T>C
  • NM_001408431.1:c.441+2T>C
  • NM_001408432.1:c.441+2T>C
  • NM_001408433.1:c.441+2T>C
  • NM_001408434.1:c.441+2T>C
  • NM_001408435.1:c.441+2T>C
  • NM_001408436.1:c.441+2T>C
  • NM_001408437.1:c.441+2T>C
  • NM_001408438.1:c.441+2T>C
  • NM_001408439.1:c.441+2T>C
  • NM_001408440.1:c.441+2T>C
  • NM_001408441.1:c.441+2T>C
  • NM_001408442.1:c.441+2T>C
  • NM_001408443.1:c.441+2T>C
  • NM_001408444.1:c.441+2T>C
  • NM_001408445.1:c.441+2T>C
  • NM_001408446.1:c.441+2T>C
  • NM_001408447.1:c.441+2T>C
  • NM_001408448.1:c.441+2T>C
  • NM_001408450.1:c.441+2T>C
  • NM_001408451.1:c.309+2T>C
  • NM_001408452.1:c.300+2T>C
  • NM_001408453.1:c.300+2T>C
  • NM_001408454.1:c.300+2T>C
  • NM_001408455.1:c.300+2T>C
  • NM_001408456.1:c.300+2T>C
  • NM_001408457.1:c.300+2T>C
  • NM_001408458.1:c.300+2T>C
  • NM_001408459.1:c.300+2T>C
  • NM_001408460.1:c.300+2T>C
  • NM_001408461.1:c.300+2T>C
  • NM_001408462.1:c.300+2T>C
  • NM_001408463.1:c.300+2T>C
  • NM_001408464.1:c.300+2T>C
  • NM_001408465.1:c.300+2T>C
  • NM_001408466.1:c.300+2T>C
  • NM_001408467.1:c.300+2T>C
  • NM_001408468.1:c.300+2T>C
  • NM_001408469.1:c.300+2T>C
  • NM_001408470.1:c.300+2T>C
  • NM_001408472.1:c.441+2T>C
  • NM_001408473.1:c.441+2T>C
  • NM_001408474.1:c.363+2T>C
  • NM_001408475.1:c.363+2T>C
  • NM_001408476.1:c.363+2T>C
  • NM_001408478.1:c.231+2T>C
  • NM_001408479.1:c.231+2T>C
  • NM_001408480.1:c.231+2T>C
  • NM_001408481.1:c.231+2T>C
  • NM_001408482.1:c.231+2T>C
  • NM_001408483.1:c.231+2T>C
  • NM_001408484.1:c.231+2T>C
  • NM_001408485.1:c.231+2T>C
  • NM_001408489.1:c.231+2T>C
  • NM_001408490.1:c.231+2T>C
  • NM_001408491.1:c.231+2T>C
  • NM_001408492.1:c.231+2T>C
  • NM_001408493.1:c.231+2T>C
  • NM_001408494.1:c.441+2T>C
  • NM_001408495.1:c.441+2T>C
  • NM_001408496.1:c.300+2T>C
  • NM_001408497.1:c.300+2T>C
  • NM_001408498.1:c.300+2T>C
  • NM_001408499.1:c.300+2T>C
  • NM_001408500.1:c.300+2T>C
  • NM_001408501.1:c.300+2T>C
  • NM_001408502.1:c.231+2T>C
  • NM_001408503.1:c.300+2T>C
  • NM_001408504.1:c.300+2T>C
  • NM_001408505.1:c.300+2T>C
  • NM_001408506.1:c.231+2T>C
  • NM_001408507.1:c.231+2T>C
  • NM_001408508.1:c.231+2T>C
  • NM_001408509.1:c.231+2T>C
  • NM_001408510.1:c.60+2T>C
  • NM_001408511.1:c.300+2T>C
  • NM_001408512.1:c.60+2T>C
  • NM_001408513.1:c.231+2T>C
  • NM_001408514.1:c.231+2T>C
  • NM_007294.4:c.441+2T>CMANE SELECT
  • NM_007297.4:c.300+2T>C
  • NM_007298.4:c.441+2T>C
  • NM_007299.4:c.441+2T>C
  • NM_007300.4:c.441+2T>C
  • LRG_292t1:c.441+2T>C
  • LRG_292:g.113864T>C
  • NC_000017.10:g.41256137A>G
  • NM_007294.3:c.441+2T>C
Links:
dbSNP: rs397509173
NCBI 1000 Genomes Browser:
rs397509173
Molecular consequence:
  • NM_001407966.1:c.-218-9260T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-218-9260T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407581.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407582.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407583.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407585.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407587.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407590.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407591.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407593.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407594.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407596.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407597.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407598.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407602.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407603.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407605.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407610.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407611.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407612.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407613.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407614.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407615.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407616.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407617.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407618.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407619.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407620.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407621.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407622.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407623.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407624.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407625.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407626.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407627.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407628.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407629.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407630.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407631.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407632.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407633.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407634.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407635.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407636.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407637.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407638.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407639.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407640.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407641.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407642.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407644.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407645.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407646.1:c.432+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407647.1:c.432+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407648.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407649.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407652.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407653.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407654.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407655.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407656.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407657.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407658.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407659.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407660.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407661.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407662.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407663.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407664.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407665.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407666.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407667.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407668.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407669.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407670.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407671.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407672.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407673.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407674.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407675.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407676.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407677.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407678.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407679.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407680.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407681.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407682.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407683.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407684.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407685.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407686.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407687.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407688.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407689.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407690.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407691.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407692.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407694.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407695.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407696.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407697.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407698.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407724.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407725.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407726.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407727.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407728.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407729.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407730.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407731.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407732.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407733.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407734.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407735.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407736.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407737.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407738.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407739.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407740.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407741.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407742.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407743.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407744.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407745.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407746.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407747.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407748.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407749.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407750.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407751.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407752.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407838.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407839.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407841.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407842.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407843.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407844.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407845.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407846.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407847.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407848.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407849.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407850.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407851.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407852.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407853.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407854.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407858.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407859.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407860.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407861.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407862.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407863.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407874.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407875.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407879.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407881.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407882.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407884.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407885.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407886.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407887.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407889.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407894.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407895.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407896.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407897.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407898.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407899.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407900.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407902.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407904.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407906.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407907.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407908.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407909.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407910.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407915.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407916.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407917.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407918.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407919.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407920.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407921.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407922.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407923.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407924.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407925.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407926.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407927.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407928.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407929.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407930.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407931.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407932.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407933.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407934.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407935.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407936.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407937.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407938.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407939.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407940.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407941.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407942.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407943.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407944.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407945.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407946.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407947.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407948.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407949.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407950.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407951.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407952.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407953.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407954.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407955.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407956.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407957.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407958.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407959.1:c.60+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407960.1:c.60+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407962.1:c.60+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407963.1:c.60+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407964.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407965.1:c.60+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407968.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407969.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407970.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407971.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407972.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407973.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407974.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407975.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407976.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407977.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407978.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407979.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407980.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407981.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407982.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407983.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407984.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407985.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407986.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407990.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407991.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407992.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407993.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408392.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408396.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408397.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408398.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408399.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408400.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408401.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408402.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408403.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408404.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408406.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408407.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408408.1:c.432+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408409.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408410.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408411.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408412.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408413.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408414.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408415.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408416.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408418.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408419.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408420.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408421.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408422.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408423.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408424.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408425.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408426.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408427.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408428.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408429.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408430.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408431.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408432.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408433.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408434.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408435.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408436.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408437.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408438.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408439.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408440.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408441.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408442.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408443.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408444.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408445.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408446.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408447.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408448.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408450.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408451.1:c.309+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408452.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408453.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408454.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408455.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408456.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408457.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408458.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408459.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408460.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408461.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408462.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408463.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408464.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408465.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408466.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408467.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408468.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408469.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408470.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408472.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408473.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408474.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408475.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408476.1:c.363+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408478.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408479.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408480.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408481.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408482.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408483.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408484.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408485.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408489.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408490.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408491.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408492.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408493.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408494.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408495.1:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408496.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408497.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408498.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408499.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408500.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408501.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408502.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408503.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408504.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408505.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408506.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408507.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408508.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408509.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408510.1:c.60+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408511.1:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408512.1:c.60+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408513.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408514.1:c.231+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.300+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.4:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.441+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000665873Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Sep 17, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Herzog JS, Chavarri-Guerra Y, Castillo D, Abugattas J, Villarreal-Garza C, Sand S, Clague-Dehart J, Alvarez-Gómez RM, Wegman-Ostrosky T, Mohar A, Mora P, Del Toro-Valero A, Daneri-Navarro A, Rodriguez Y, Cruz-Correa M, Ashton-Prolla P, Alemar B, Mejia R, Gallardo L, Shaw R, Yang K, Cervantes A, et al.

NPJ Breast Cancer. 2021 Aug 19;7(1):107. doi: 10.1038/s41523-021-00317-6.

PubMed [citation]
PMID:
34413315
PMCID:
PMC8377150

Details of each submission

From Ambry Genetics, SCV000665873.5

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

Description

The c.441+2T>C intronic variant results from a T to C substitution two nucleotides after coding exon 5 in the BRCA1 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site; however direct evidence is insufficient. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay; As such, this alteration is classified as likely pathogenic.

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

Last Updated: May 7, 2024