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NM_007294.4(BRCA1):c.5333-2A>T AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Jan 17, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000580882.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.5333-2A>T]

NM_007294.4(BRCA1):c.5333-2A>T

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5333-2A>T
HGVS:
  • NC_000017.11:g.43049196T>A
  • NG_005905.2:g.168788A>T
  • NM_001407571.1:c.5120-2A>T
  • NM_001407581.1:c.5399-2A>T
  • NM_001407582.1:c.5399-2A>T
  • NM_001407583.1:c.5396-2A>T
  • NM_001407585.1:c.5396-2A>T
  • NM_001407587.1:c.5396-2A>T
  • NM_001407590.1:c.5393-2A>T
  • NM_001407591.1:c.5393-2A>T
  • NM_001407593.1:c.5333-2A>T
  • NM_001407594.1:c.5333-2A>T
  • NM_001407596.1:c.5333-2A>T
  • NM_001407597.1:c.5333-2A>T
  • NM_001407598.1:c.5333-2A>T
  • NM_001407602.1:c.5333-2A>T
  • NM_001407603.1:c.5333-2A>T
  • NM_001407605.1:c.5333-2A>T
  • NM_001407610.1:c.5330-2A>T
  • NM_001407611.1:c.5330-2A>T
  • NM_001407612.1:c.5330-2A>T
  • NM_001407613.1:c.5330-2A>T
  • NM_001407614.1:c.5330-2A>T
  • NM_001407615.1:c.5330-2A>T
  • NM_001407616.1:c.5330-2A>T
  • NM_001407617.1:c.5330-2A>T
  • NM_001407618.1:c.5330-2A>T
  • NM_001407619.1:c.5330-2A>T
  • NM_001407620.1:c.5330-2A>T
  • NM_001407621.1:c.5330-2A>T
  • NM_001407622.1:c.5330-2A>T
  • NM_001407623.1:c.5330-2A>T
  • NM_001407624.1:c.5330-2A>T
  • NM_001407625.1:c.5330-2A>T
  • NM_001407626.1:c.5330-2A>T
  • NM_001407627.1:c.5327-2A>T
  • NM_001407628.1:c.5327-2A>T
  • NM_001407629.1:c.5327-2A>T
  • NM_001407630.1:c.5327-2A>T
  • NM_001407631.1:c.5327-2A>T
  • NM_001407632.1:c.5327-2A>T
  • NM_001407633.1:c.5327-2A>T
  • NM_001407634.1:c.5327-2A>T
  • NM_001407635.1:c.5327-2A>T
  • NM_001407636.1:c.5327-2A>T
  • NM_001407637.1:c.5327-2A>T
  • NM_001407638.1:c.5327-2A>T
  • NM_001407639.1:c.5327-2A>T
  • NM_001407640.1:c.5327-2A>T
  • NM_001407641.1:c.5327-2A>T
  • NM_001407642.1:c.5327-2A>T
  • NM_001407644.1:c.5324-2A>T
  • NM_001407645.1:c.5324-2A>T
  • NM_001407646.1:c.5321-2A>T
  • NM_001407647.1:c.5318-2A>T
  • NM_001407648.1:c.5276-2A>T
  • NM_001407649.1:c.5273-2A>T
  • NM_001407652.1:c.5255-2A>T
  • NM_001407653.1:c.5255-2A>T
  • NM_001407654.1:c.5255-2A>T
  • NM_001407655.1:c.5255-2A>T
  • NM_001407656.1:c.5252-2A>T
  • NM_001407657.1:c.5252-2A>T
  • NM_001407658.1:c.5252-2A>T
  • NM_001407659.1:c.5249-2A>T
  • NM_001407660.1:c.5249-2A>T
  • NM_001407661.1:c.5249-2A>T
  • NM_001407662.1:c.5249-2A>T
  • NM_001407663.1:c.5249-2A>T
  • NM_001407664.1:c.5210-2A>T
  • NM_001407665.1:c.5210-2A>T
  • NM_001407666.1:c.5210-2A>T
  • NM_001407667.1:c.5210-2A>T
  • NM_001407668.1:c.5210-2A>T
  • NM_001407669.1:c.5210-2A>T
  • NM_001407670.1:c.5207-2A>T
  • NM_001407671.1:c.5207-2A>T
  • NM_001407672.1:c.5207-2A>T
  • NM_001407673.1:c.5207-2A>T
  • NM_001407674.1:c.5207-2A>T
  • NM_001407675.1:c.5207-2A>T
  • NM_001407676.1:c.5207-2A>T
  • NM_001407677.1:c.5207-2A>T
  • NM_001407678.1:c.5207-2A>T
  • NM_001407679.1:c.5207-2A>T
  • NM_001407680.1:c.5207-2A>T
  • NM_001407681.1:c.5204-2A>T
  • NM_001407682.1:c.5204-2A>T
  • NM_001407683.1:c.5204-2A>T
  • NM_001407684.1:c.5278-1493A>T
  • NM_001407685.1:c.5204-2A>T
  • NM_001407686.1:c.5204-2A>T
  • NM_001407687.1:c.5204-2A>T
  • NM_001407688.1:c.5204-2A>T
  • NM_001407689.1:c.5204-2A>T
  • NM_001407690.1:c.5201-2A>T
  • NM_001407691.1:c.5201-2A>T
  • NM_001407692.1:c.5192-2A>T
  • NM_001407694.1:c.5192-2A>T
  • NM_001407695.1:c.5192-2A>T
  • NM_001407696.1:c.5192-2A>T
  • NM_001407697.1:c.5192-2A>T
  • NM_001407698.1:c.5192-2A>T
  • NM_001407724.1:c.5192-2A>T
  • NM_001407725.1:c.5192-2A>T
  • NM_001407726.1:c.5192-2A>T
  • NM_001407727.1:c.5192-2A>T
  • NM_001407728.1:c.5192-2A>T
  • NM_001407729.1:c.5192-2A>T
  • NM_001407730.1:c.5192-2A>T
  • NM_001407731.1:c.5192-2A>T
  • NM_001407732.1:c.5189-2A>T
  • NM_001407733.1:c.5189-2A>T
  • NM_001407734.1:c.5189-2A>T
  • NM_001407735.1:c.5189-2A>T
  • NM_001407736.1:c.5189-2A>T
  • NM_001407737.1:c.5189-2A>T
  • NM_001407738.1:c.5189-2A>T
  • NM_001407739.1:c.5189-2A>T
  • NM_001407740.1:c.5189-2A>T
  • NM_001407741.1:c.5189-2A>T
  • NM_001407742.1:c.5189-2A>T
  • NM_001407743.1:c.5189-2A>T
  • NM_001407744.1:c.5189-2A>T
  • NM_001407745.1:c.5189-2A>T
  • NM_001407746.1:c.5189-2A>T
  • NM_001407747.1:c.5189-2A>T
  • NM_001407748.1:c.5189-2A>T
  • NM_001407749.1:c.5189-2A>T
  • NM_001407750.1:c.5189-2A>T
  • NM_001407751.1:c.5189-2A>T
  • NM_001407752.1:c.5189-2A>T
  • NM_001407838.1:c.5186-2A>T
  • NM_001407839.1:c.5186-2A>T
  • NM_001407841.1:c.5186-2A>T
  • NM_001407842.1:c.5186-2A>T
  • NM_001407843.1:c.5186-2A>T
  • NM_001407844.1:c.5186-2A>T
  • NM_001407845.1:c.5186-2A>T
  • NM_001407846.1:c.5186-2A>T
  • NM_001407847.1:c.5186-2A>T
  • NM_001407848.1:c.5186-2A>T
  • NM_001407849.1:c.5186-2A>T
  • NM_001407850.1:c.5186-2A>T
  • NM_001407851.1:c.5186-2A>T
  • NM_001407852.1:c.5186-2A>T
  • NM_001407853.1:c.5186-2A>T
  • NM_001407854.1:c.5333-1493A>T
  • NM_001407858.1:c.5330-1493A>T
  • NM_001407859.1:c.5330-1493A>T
  • NM_001407860.1:c.5330-1493A>T
  • NM_001407861.1:c.5327-1493A>T
  • NM_001407862.1:c.5132-2A>T
  • NM_001407863.1:c.5129-2A>T
  • NM_001407874.1:c.5126-2A>T
  • NM_001407875.1:c.5126-2A>T
  • NM_001407879.1:c.5123-2A>T
  • NM_001407881.1:c.5123-2A>T
  • NM_001407882.1:c.5123-2A>T
  • NM_001407884.1:c.5123-2A>T
  • NM_001407885.1:c.5123-2A>T
  • NM_001407886.1:c.5123-2A>T
  • NM_001407887.1:c.5123-2A>T
  • NM_001407889.1:c.5123-2A>T
  • NM_001407894.1:c.5120-2A>T
  • NM_001407895.1:c.5120-2A>T
  • NM_001407896.1:c.5120-2A>T
  • NM_001407897.1:c.5120-2A>T
  • NM_001407898.1:c.5120-2A>T
  • NM_001407899.1:c.5120-2A>T
  • NM_001407900.1:c.5120-2A>T
  • NM_001407902.1:c.5120-2A>T
  • NM_001407904.1:c.5120-2A>T
  • NM_001407906.1:c.5120-2A>T
  • NM_001407907.1:c.5120-2A>T
  • NM_001407908.1:c.5120-2A>T
  • NM_001407909.1:c.5120-2A>T
  • NM_001407910.1:c.5120-2A>T
  • NM_001407915.1:c.5117-2A>T
  • NM_001407916.1:c.5117-2A>T
  • NM_001407917.1:c.5117-2A>T
  • NM_001407918.1:c.5117-2A>T
  • NM_001407919.1:c.5155-1493A>T
  • NM_001407920.1:c.5069-2A>T
  • NM_001407921.1:c.5069-2A>T
  • NM_001407922.1:c.5069-2A>T
  • NM_001407923.1:c.5069-2A>T
  • NM_001407924.1:c.5069-2A>T
  • NM_001407925.1:c.5069-2A>T
  • NM_001407926.1:c.5069-2A>T
  • NM_001407927.1:c.5066-2A>T
  • NM_001407928.1:c.5066-2A>T
  • NM_001407929.1:c.5066-2A>T
  • NM_001407930.1:c.5066-2A>T
  • NM_001407931.1:c.5066-2A>T
  • NM_001407932.1:c.5066-2A>T
  • NM_001407933.1:c.5066-2A>T
  • NM_001407934.1:c.5063-2A>T
  • NM_001407935.1:c.5063-2A>T
  • NM_001407936.1:c.5063-2A>T
  • NM_001407937.1:c.5210-1493A>T
  • NM_001407938.1:c.5210-1493A>T
  • NM_001407939.1:c.5207-1493A>T
  • NM_001407940.1:c.5207-1493A>T
  • NM_001407941.1:c.5204-1493A>T
  • NM_001407942.1:c.5192-1493A>T
  • NM_001407943.1:c.5189-1493A>T
  • NM_001407944.1:c.5189-1493A>T
  • NM_001407945.1:c.5189-1493A>T
  • NM_001407946.1:c.5000-2A>T
  • NM_001407947.1:c.5000-2A>T
  • NM_001407948.1:c.5000-2A>T
  • NM_001407949.1:c.5000-2A>T
  • NM_001407950.1:c.4997-2A>T
  • NM_001407951.1:c.4997-2A>T
  • NM_001407952.1:c.4997-2A>T
  • NM_001407953.1:c.4997-2A>T
  • NM_001407954.1:c.4997-2A>T
  • NM_001407955.1:c.4997-2A>T
  • NM_001407956.1:c.4994-2A>T
  • NM_001407957.1:c.4994-2A>T
  • NM_001407958.1:c.4994-2A>T
  • NM_001407959.1:c.4952-2A>T
  • NM_001407960.1:c.4949-2A>T
  • NM_001407962.1:c.4949-2A>T
  • NM_001407963.1:c.4946-2A>T
  • NM_001407964.1:c.4871-2A>T
  • NM_001407965.1:c.4826-2A>T
  • NM_001407966.1:c.4445-2A>T
  • NM_001407967.1:c.4442-2A>T
  • NM_001407968.1:c.2729-2A>T
  • NM_001407969.1:c.2726-2A>T
  • NM_001407970.1:c.2090-2A>T
  • NM_001407971.1:c.2090-2A>T
  • NM_001407972.1:c.2087-2A>T
  • NM_001407973.1:c.2024-2A>T
  • NM_001407974.1:c.2024-2A>T
  • NM_001407975.1:c.2024-2A>T
  • NM_001407976.1:c.2024-2A>T
  • NM_001407977.1:c.2024-2A>T
  • NM_001407978.1:c.2024-2A>T
  • NM_001407979.1:c.2021-2A>T
  • NM_001407980.1:c.2021-2A>T
  • NM_001407981.1:c.2021-2A>T
  • NM_001407982.1:c.2021-2A>T
  • NM_001407983.1:c.2021-2A>T
  • NM_001407984.1:c.2021-2A>T
  • NM_001407985.1:c.2021-2A>T
  • NM_001407986.1:c.2021-2A>T
  • NM_001407990.1:c.2021-2A>T
  • NM_001407991.1:c.2021-2A>T
  • NM_001407992.1:c.2021-2A>T
  • NM_001407993.1:c.2021-2A>T
  • NM_001408392.1:c.2018-2A>T
  • NM_001408396.1:c.2018-2A>T
  • NM_001408397.1:c.2018-2A>T
  • NM_001408398.1:c.2018-2A>T
  • NM_001408399.1:c.2018-2A>T
  • NM_001408400.1:c.2018-2A>T
  • NM_001408401.1:c.2018-2A>T
  • NM_001408402.1:c.2018-2A>T
  • NM_001408403.1:c.2018-2A>T
  • NM_001408404.1:c.2018-2A>T
  • NM_001408406.1:c.2015-2A>T
  • NM_001408407.1:c.2015-2A>T
  • NM_001408408.1:c.2015-2A>T
  • NM_001408409.1:c.2012-2A>T
  • NM_001408410.1:c.1949-2A>T
  • NM_001408411.1:c.1946-2A>T
  • NM_001408412.1:c.1943-2A>T
  • NM_001408413.1:c.1943-2A>T
  • NM_001408414.1:c.1943-2A>T
  • NM_001408415.1:c.1943-2A>T
  • NM_001408416.1:c.1943-2A>T
  • NM_001408418.1:c.1907-2A>T
  • NM_001408419.1:c.1907-2A>T
  • NM_001408420.1:c.1907-2A>T
  • NM_001408421.1:c.1904-2A>T
  • NM_001408422.1:c.1904-2A>T
  • NM_001408423.1:c.1904-2A>T
  • NM_001408424.1:c.1904-2A>T
  • NM_001408425.1:c.1901-2A>T
  • NM_001408426.1:c.1901-2A>T
  • NM_001408427.1:c.1901-2A>T
  • NM_001408428.1:c.1901-2A>T
  • NM_001408429.1:c.1901-2A>T
  • NM_001408430.1:c.1901-2A>T
  • NM_001408431.1:c.1901-2A>T
  • NM_001408432.1:c.1898-2A>T
  • NM_001408433.1:c.1898-2A>T
  • NM_001408434.1:c.1898-2A>T
  • NM_001408435.1:c.1898-2A>T
  • NM_001408436.1:c.1898-2A>T
  • NM_001408437.1:c.1898-2A>T
  • NM_001408438.1:c.1898-2A>T
  • NM_001408439.1:c.1898-2A>T
  • NM_001408440.1:c.1898-2A>T
  • NM_001408441.1:c.1898-2A>T
  • NM_001408442.1:c.1898-2A>T
  • NM_001408443.1:c.1898-2A>T
  • NM_001408444.1:c.1898-2A>T
  • NM_001408445.1:c.1895-2A>T
  • NM_001408446.1:c.1895-2A>T
  • NM_001408447.1:c.1895-2A>T
  • NM_001408448.1:c.1895-2A>T
  • NM_001408450.1:c.1895-2A>T
  • NM_001408451.1:c.1889-2A>T
  • NM_001408452.1:c.1883-2A>T
  • NM_001408453.1:c.1883-2A>T
  • NM_001408454.1:c.1883-2A>T
  • NM_001408455.1:c.1883-2A>T
  • NM_001408456.1:c.1883-2A>T
  • NM_001408457.1:c.1883-2A>T
  • NM_001408458.1:c.1880-2A>T
  • NM_001408459.1:c.1880-2A>T
  • NM_001408460.1:c.1880-2A>T
  • NM_001408461.1:c.1880-2A>T
  • NM_001408462.1:c.1880-2A>T
  • NM_001408463.1:c.1880-2A>T
  • NM_001408464.1:c.1880-2A>T
  • NM_001408465.1:c.1880-2A>T
  • NM_001408466.1:c.1880-2A>T
  • NM_001408467.1:c.1880-2A>T
  • NM_001408468.1:c.1877-2A>T
  • NM_001408469.1:c.1877-2A>T
  • NM_001408470.1:c.1877-2A>T
  • NM_001408472.1:c.2021-1493A>T
  • NM_001408473.1:c.2018-1493A>T
  • NM_001408474.1:c.1823-2A>T
  • NM_001408475.1:c.1820-2A>T
  • NM_001408476.1:c.1820-2A>T
  • NM_001408478.1:c.1814-2A>T
  • NM_001408479.1:c.1814-2A>T
  • NM_001408480.1:c.1814-2A>T
  • NM_001408481.1:c.1811-2A>T
  • NM_001408482.1:c.1811-2A>T
  • NM_001408483.1:c.1811-2A>T
  • NM_001408484.1:c.1811-2A>T
  • NM_001408485.1:c.1811-2A>T
  • NM_001408489.1:c.1811-2A>T
  • NM_001408490.1:c.1811-2A>T
  • NM_001408491.1:c.1811-2A>T
  • NM_001408492.1:c.1808-2A>T
  • NM_001408493.1:c.1808-2A>T
  • NM_001408494.1:c.1784-2A>T
  • NM_001408495.1:c.1778-2A>T
  • NM_001408496.1:c.1760-2A>T
  • NM_001408497.1:c.1760-2A>T
  • NM_001408498.1:c.1760-2A>T
  • NM_001408499.1:c.1760-2A>T
  • NM_001408500.1:c.1760-2A>T
  • NM_001408501.1:c.1760-2A>T
  • NM_001408502.1:c.1757-2A>T
  • NM_001408503.1:c.1757-2A>T
  • NM_001408504.1:c.1757-2A>T
  • NM_001408505.1:c.1754-2A>T
  • NM_001408506.1:c.1697-2A>T
  • NM_001408507.1:c.1694-2A>T
  • NM_001408508.1:c.1685-2A>T
  • NM_001408509.1:c.1682-2A>T
  • NM_001408510.1:c.1643-2A>T
  • NM_001408511.1:c.1640-2A>T
  • NM_001408512.1:c.1520-2A>T
  • NM_001408513.1:c.1493-2A>T
  • NM_001408514.1:c.1097-2A>T
  • NM_007294.4:c.5333-2A>TMANE SELECT
  • NM_007297.4:c.5192-2A>T
  • NM_007298.4:c.2021-2A>T
  • NM_007299.4:c.2021-1493A>T
  • NM_007300.4:c.5396-2A>T
  • LRG_292t1:c.5333-2A>T
  • LRG_292:g.168788A>T
  • NC_000017.10:g.41201213T>A
  • NM_007294.3:c.5333-2A>T
Nucleotide change:
IVS21-2A>T
Links:
dbSNP: rs397509264
NCBI 1000 Genomes Browser:
rs397509264
Molecular consequence:
  • NM_001407684.1:c.5278-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.5333-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.5330-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.5330-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.5330-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.5327-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.5155-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.5210-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.5210-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.5207-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.5207-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.5204-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.5192-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.5189-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.5189-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.5189-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.2021-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.2018-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.2021-1493A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407581.1:c.5399-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407582.1:c.5399-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407583.1:c.5396-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407585.1:c.5396-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407587.1:c.5396-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407590.1:c.5393-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407591.1:c.5393-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407593.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407594.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407596.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407597.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407598.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407602.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407603.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407605.1:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407610.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407611.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407612.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407613.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407614.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407615.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407616.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407617.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407618.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407619.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407620.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407621.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407622.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407623.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407624.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407625.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407626.1:c.5330-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407627.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407628.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407629.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407630.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407631.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407632.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407633.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407634.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407635.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407636.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407637.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407638.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407639.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407640.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407641.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407642.1:c.5327-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407644.1:c.5324-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407645.1:c.5324-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407646.1:c.5321-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407647.1:c.5318-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407648.1:c.5276-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407649.1:c.5273-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407652.1:c.5255-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407653.1:c.5255-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407654.1:c.5255-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407655.1:c.5255-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407656.1:c.5252-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407657.1:c.5252-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407658.1:c.5252-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407659.1:c.5249-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407660.1:c.5249-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407661.1:c.5249-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407662.1:c.5249-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407663.1:c.5249-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407664.1:c.5210-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407665.1:c.5210-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407666.1:c.5210-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407667.1:c.5210-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407668.1:c.5210-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407669.1:c.5210-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407670.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407671.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407672.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407673.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407674.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407675.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407676.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407677.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407678.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407679.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407680.1:c.5207-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407681.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407682.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407683.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407685.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407686.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407687.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407688.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407689.1:c.5204-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407690.1:c.5201-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407691.1:c.5201-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407692.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407694.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407695.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407696.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407697.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407698.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407724.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407725.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407726.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407727.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407728.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407729.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407730.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407731.1:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407732.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407733.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407734.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407735.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407736.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407737.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407738.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407739.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407740.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407741.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407742.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407743.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407744.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407745.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407746.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407747.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407748.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407749.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407750.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407751.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407752.1:c.5189-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407838.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407839.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407841.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407842.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407843.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407844.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407845.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407846.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407847.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407848.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407849.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407850.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407851.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407852.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407853.1:c.5186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407862.1:c.5132-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407863.1:c.5129-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407874.1:c.5126-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407875.1:c.5126-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407879.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407881.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407882.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407884.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407885.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407886.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407887.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407889.1:c.5123-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407894.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407895.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407896.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407897.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407898.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407899.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407900.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407902.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407904.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407906.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407907.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407908.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407909.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407910.1:c.5120-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407915.1:c.5117-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407916.1:c.5117-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407917.1:c.5117-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407918.1:c.5117-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407920.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407921.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407922.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407923.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407924.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407925.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407926.1:c.5069-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407927.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407928.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407929.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407930.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407931.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407932.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407933.1:c.5066-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407934.1:c.5063-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407935.1:c.5063-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407936.1:c.5063-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407946.1:c.5000-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407947.1:c.5000-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407948.1:c.5000-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407949.1:c.5000-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407950.1:c.4997-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407951.1:c.4997-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407952.1:c.4997-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407953.1:c.4997-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407954.1:c.4997-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407955.1:c.4997-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407956.1:c.4994-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407957.1:c.4994-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407958.1:c.4994-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407959.1:c.4952-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407960.1:c.4949-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407962.1:c.4949-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407963.1:c.4946-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407964.1:c.4871-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407965.1:c.4826-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407966.1:c.4445-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407967.1:c.4442-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407968.1:c.2729-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407969.1:c.2726-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407970.1:c.2090-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407971.1:c.2090-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407972.1:c.2087-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407973.1:c.2024-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407974.1:c.2024-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407975.1:c.2024-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407976.1:c.2024-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407977.1:c.2024-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407978.1:c.2024-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407979.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407980.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407981.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407982.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407983.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407984.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407985.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407986.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407990.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407991.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407992.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407993.1:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408392.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408396.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408397.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408398.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408399.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408400.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408401.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408402.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408403.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408404.1:c.2018-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408406.1:c.2015-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408407.1:c.2015-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408408.1:c.2015-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408409.1:c.2012-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408410.1:c.1949-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408411.1:c.1946-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408412.1:c.1943-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408413.1:c.1943-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408414.1:c.1943-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408415.1:c.1943-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408416.1:c.1943-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408418.1:c.1907-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408419.1:c.1907-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408420.1:c.1907-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408421.1:c.1904-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408422.1:c.1904-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408423.1:c.1904-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408424.1:c.1904-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408425.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408426.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408427.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408428.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408429.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408430.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408431.1:c.1901-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408432.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408433.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408434.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408435.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408436.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408437.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408438.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408439.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408440.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408441.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408442.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408443.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408444.1:c.1898-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408445.1:c.1895-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408446.1:c.1895-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408447.1:c.1895-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408448.1:c.1895-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408450.1:c.1895-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408451.1:c.1889-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408452.1:c.1883-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408453.1:c.1883-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408454.1:c.1883-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408455.1:c.1883-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408456.1:c.1883-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408457.1:c.1883-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408458.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408459.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408460.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408461.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408462.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408463.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408464.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408465.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408466.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408467.1:c.1880-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408468.1:c.1877-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408469.1:c.1877-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408470.1:c.1877-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408474.1:c.1823-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408475.1:c.1820-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408476.1:c.1820-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408478.1:c.1814-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408479.1:c.1814-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408480.1:c.1814-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408481.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408482.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408483.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408484.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408485.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408489.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408490.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408491.1:c.1811-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408492.1:c.1808-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408493.1:c.1808-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408494.1:c.1784-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408495.1:c.1778-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408496.1:c.1760-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408497.1:c.1760-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408498.1:c.1760-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408499.1:c.1760-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408500.1:c.1760-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408501.1:c.1760-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408502.1:c.1757-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408503.1:c.1757-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408504.1:c.1757-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408505.1:c.1754-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408506.1:c.1697-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408507.1:c.1694-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408508.1:c.1685-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408509.1:c.1682-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408510.1:c.1643-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408511.1:c.1640-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408512.1:c.1520-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408513.1:c.1493-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408514.1:c.1097-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007294.4:c.5333-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007297.4:c.5192-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007298.4:c.2021-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007300.4:c.5396-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000683294Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 14, 2019) 		germlineclinical testing

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

SCV003911973Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 17, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

Kim H, Cho DY, Choi DH, Choi SY, Shin I, Park W, Huh SJ, Han SH, Lee MH, Ahn SH, Son BH, Kim SW; Korean Breast Cancer Study Group., Haffty BG.

Breast Cancer Res Treat. 2012 Aug;134(3):1315-26. doi: 10.1007/s10549-012-2159-5. Epub 2012 Jul 14.

PubMed [citation]
PMID:
22798144
See all PubMed Citations (6)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000683294.4

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

Description

This variant causes an A>T nucleotide substitution at the -2 position of intron 20 of the BRCA1 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. A functional study reported this variant as defective in a haploid cell proliferation assay (PMID: 30209399). This variant has been observed in at least one individual with triple-negative breast cancer (PMID: 30350268) and additional individuals considered at-risk for breast and/or ovarian cancer (PMID: 22798144, 29673794). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease. Based on the available evidence, this variant is classified as Likely Pathogenic.

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

From Ambry Genetics, SCV003911973.2

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

Description

The c.5333-2A>T intronic pathogenic mutation results from an A to T substitution two nucleotides upstream from coding exon 20 in the BRCA1 gene. This alteration has been reported in several Korean breast cancer cohorts (Kim H et al. Breast Cancer Res Treat, 2012 Aug;134:1315-26; Kim DH et al. BMC Med Genet, 2017 Mar;18:38) and in 1 of 999 Korean triple negative breast cancer patients undergoing BRCA1/2 genetic testing (Ryu JM et al. Breast Cancer Res Treat, 2019 Jan;173:385-395). This variant was also reported in 1/60,466 breast cancer cases and in 2/53,461 controls (Dorling et al. N Engl J Med. 2021 02;384:428-439). One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 Oct;562:217-222). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site; however, direct evidence is insufficient at this time (Ambry internal data). In addition to the data presented in the literature, 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 a disease-causing mutation.

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

Last Updated: Sep 16, 2024