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NM_007294.4(BRCA1):c.5407-1G>A AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2021
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:
RCV002477263.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.5407-1G>A]

NM_007294.4(BRCA1):c.5407-1G>A

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.5407-1G>A
Other names:
IVS22-1G>A
HGVS:
  • NC_000017.11:g.43047704C>T
  • NG_005905.2:g.170280G>A
  • NM_001407571.1:c.5194-1G>A
  • NM_001407581.1:c.5473-1G>A
  • NM_001407582.1:c.5473-1G>A
  • NM_001407583.1:c.5470-1G>A
  • NM_001407585.1:c.5470-1G>A
  • NM_001407587.1:c.5470-1G>A
  • NM_001407590.1:c.5467-1G>A
  • NM_001407591.1:c.5467-1G>A
  • NM_001407593.1:c.5407-1G>A
  • NM_001407594.1:c.5407-1G>A
  • NM_001407596.1:c.5407-1G>A
  • NM_001407597.1:c.5407-1G>A
  • NM_001407598.1:c.5407-1G>A
  • NM_001407602.1:c.5407-1G>A
  • NM_001407603.1:c.5407-1G>A
  • NM_001407605.1:c.5407-1G>A
  • NM_001407610.1:c.5404-1G>A
  • NM_001407611.1:c.5404-1G>A
  • NM_001407612.1:c.5404-1G>A
  • NM_001407613.1:c.5404-1G>A
  • NM_001407614.1:c.5404-1G>A
  • NM_001407615.1:c.5404-1G>A
  • NM_001407616.1:c.5404-1G>A
  • NM_001407617.1:c.5404-1G>A
  • NM_001407618.1:c.5404-1G>A
  • NM_001407619.1:c.5404-1G>A
  • NM_001407620.1:c.5404-1G>A
  • NM_001407621.1:c.5404-1G>A
  • NM_001407622.1:c.5404-1G>A
  • NM_001407623.1:c.5404-1G>A
  • NM_001407624.1:c.5404-1G>A
  • NM_001407625.1:c.5404-1G>A
  • NM_001407626.1:c.5404-1G>A
  • NM_001407627.1:c.5401-1G>A
  • NM_001407628.1:c.5401-1G>A
  • NM_001407629.1:c.5401-1G>A
  • NM_001407630.1:c.5401-1G>A
  • NM_001407631.1:c.5401-1G>A
  • NM_001407632.1:c.5401-1G>A
  • NM_001407633.1:c.5401-1G>A
  • NM_001407634.1:c.5401-1G>A
  • NM_001407635.1:c.5401-1G>A
  • NM_001407636.1:c.5401-1G>A
  • NM_001407637.1:c.5401-1G>A
  • NM_001407638.1:c.5401-1G>A
  • NM_001407639.1:c.5401-1G>A
  • NM_001407640.1:c.5401-1G>A
  • NM_001407641.1:c.5401-1G>A
  • NM_001407642.1:c.5401-1G>A
  • NM_001407644.1:c.5398-1G>A
  • NM_001407645.1:c.5398-1G>A
  • NM_001407646.1:c.5395-1G>A
  • NM_001407647.1:c.5392-1G>A
  • NM_001407648.1:c.5350-1G>A
  • NM_001407649.1:c.5347-1G>A
  • NM_001407652.1:c.5329-1G>A
  • NM_001407653.1:c.5329-1G>A
  • NM_001407654.1:c.5329-1G>A
  • NM_001407655.1:c.5329-1G>A
  • NM_001407656.1:c.5326-1G>A
  • NM_001407657.1:c.5326-1G>A
  • NM_001407658.1:c.5326-1G>A
  • NM_001407659.1:c.5323-1G>A
  • NM_001407660.1:c.5323-1G>A
  • NM_001407661.1:c.5323-1G>A
  • NM_001407662.1:c.5323-1G>A
  • NM_001407663.1:c.5323-1G>A
  • NM_001407664.1:c.5284-1G>A
  • NM_001407665.1:c.5284-1G>A
  • NM_001407666.1:c.5284-1G>A
  • NM_001407667.1:c.5284-1G>A
  • NM_001407668.1:c.5284-1G>A
  • NM_001407669.1:c.5284-1G>A
  • NM_001407670.1:c.5281-1G>A
  • NM_001407671.1:c.5281-1G>A
  • NM_001407672.1:c.5281-1G>A
  • NM_001407673.1:c.5281-1G>A
  • NM_001407674.1:c.5281-1G>A
  • NM_001407675.1:c.5281-1G>A
  • NM_001407676.1:c.5281-1G>A
  • NM_001407677.1:c.5281-1G>A
  • NM_001407678.1:c.5281-1G>A
  • NM_001407679.1:c.5281-1G>A
  • NM_001407680.1:c.5281-1G>A
  • NM_001407681.1:c.5278-1G>A
  • NM_001407682.1:c.5278-1G>A
  • NM_001407683.1:c.5278-1G>A
  • NM_001407684.1:c.5278-1G>A
  • NM_001407685.1:c.5278-1G>A
  • NM_001407686.1:c.5278-1G>A
  • NM_001407687.1:c.5278-1G>A
  • NM_001407688.1:c.5278-1G>A
  • NM_001407689.1:c.5278-1G>A
  • NM_001407690.1:c.5275-1G>A
  • NM_001407691.1:c.5275-1G>A
  • NM_001407692.1:c.5266-1G>A
  • NM_001407694.1:c.5266-1G>A
  • NM_001407695.1:c.5266-1G>A
  • NM_001407696.1:c.5266-1G>A
  • NM_001407697.1:c.5266-1G>A
  • NM_001407698.1:c.5266-1G>A
  • NM_001407724.1:c.5266-1G>A
  • NM_001407725.1:c.5266-1G>A
  • NM_001407726.1:c.5266-1G>A
  • NM_001407727.1:c.5266-1G>A
  • NM_001407728.1:c.5266-1G>A
  • NM_001407729.1:c.5266-1G>A
  • NM_001407730.1:c.5266-1G>A
  • NM_001407731.1:c.5266-1G>A
  • NM_001407732.1:c.5263-1G>A
  • NM_001407733.1:c.5263-1G>A
  • NM_001407734.1:c.5263-1G>A
  • NM_001407735.1:c.5263-1G>A
  • NM_001407736.1:c.5263-1G>A
  • NM_001407737.1:c.5263-1G>A
  • NM_001407738.1:c.5263-1G>A
  • NM_001407739.1:c.5263-1G>A
  • NM_001407740.1:c.5263-1G>A
  • NM_001407741.1:c.5263-1G>A
  • NM_001407742.1:c.5263-1G>A
  • NM_001407743.1:c.5263-1G>A
  • NM_001407744.1:c.5263-1G>A
  • NM_001407745.1:c.5263-1G>A
  • NM_001407746.1:c.5263-1G>A
  • NM_001407747.1:c.5263-1G>A
  • NM_001407748.1:c.5263-1G>A
  • NM_001407749.1:c.5263-1G>A
  • NM_001407750.1:c.5263-1G>A
  • NM_001407751.1:c.5263-1G>A
  • NM_001407752.1:c.5263-1G>A
  • NM_001407838.1:c.5260-1G>A
  • NM_001407839.1:c.5260-1G>A
  • NM_001407841.1:c.5260-1G>A
  • NM_001407842.1:c.5260-1G>A
  • NM_001407843.1:c.5260-1G>A
  • NM_001407844.1:c.5260-1G>A
  • NM_001407845.1:c.5260-1G>A
  • NM_001407846.1:c.5260-1G>A
  • NM_001407847.1:c.5260-1G>A
  • NM_001407848.1:c.5260-1G>A
  • NM_001407849.1:c.5260-1G>A
  • NM_001407850.1:c.5260-1G>A
  • NM_001407851.1:c.5260-1G>A
  • NM_001407852.1:c.5260-1G>A
  • NM_001407853.1:c.5260-1G>A
  • NM_001407854.1:c.5333-1G>A
  • NM_001407858.1:c.5330-1G>A
  • NM_001407859.1:c.5330-1G>A
  • NM_001407860.1:c.5330-1G>A
  • NM_001407861.1:c.5327-1G>A
  • NM_001407862.1:c.5206-1G>A
  • NM_001407863.1:c.5203-1G>A
  • NM_001407874.1:c.5200-1G>A
  • NM_001407875.1:c.5200-1G>A
  • NM_001407879.1:c.5197-1G>A
  • NM_001407881.1:c.5197-1G>A
  • NM_001407882.1:c.5197-1G>A
  • NM_001407884.1:c.5197-1G>A
  • NM_001407885.1:c.5197-1G>A
  • NM_001407886.1:c.5197-1G>A
  • NM_001407887.1:c.5197-1G>A
  • NM_001407889.1:c.5197-1G>A
  • NM_001407894.1:c.5194-1G>A
  • NM_001407895.1:c.5194-1G>A
  • NM_001407896.1:c.5194-1G>A
  • NM_001407897.1:c.5194-1G>A
  • NM_001407898.1:c.5194-1G>A
  • NM_001407899.1:c.5194-1G>A
  • NM_001407900.1:c.5194-1G>A
  • NM_001407902.1:c.5194-1G>A
  • NM_001407904.1:c.5194-1G>A
  • NM_001407906.1:c.5194-1G>A
  • NM_001407907.1:c.5194-1G>A
  • NM_001407908.1:c.5194-1G>A
  • NM_001407909.1:c.5194-1G>A
  • NM_001407910.1:c.5194-1G>A
  • NM_001407915.1:c.5191-1G>A
  • NM_001407916.1:c.5191-1G>A
  • NM_001407917.1:c.5191-1G>A
  • NM_001407918.1:c.5191-1G>A
  • NM_001407919.1:c.5155-1G>A
  • NM_001407920.1:c.5143-1G>A
  • NM_001407921.1:c.5143-1G>A
  • NM_001407922.1:c.5143-1G>A
  • NM_001407923.1:c.5143-1G>A
  • NM_001407924.1:c.5143-1G>A
  • NM_001407925.1:c.5143-1G>A
  • NM_001407926.1:c.5143-1G>A
  • NM_001407927.1:c.5140-1G>A
  • NM_001407928.1:c.5140-1G>A
  • NM_001407929.1:c.5140-1G>A
  • NM_001407930.1:c.5140-1G>A
  • NM_001407931.1:c.5140-1G>A
  • NM_001407932.1:c.5140-1G>A
  • NM_001407933.1:c.5140-1G>A
  • NM_001407934.1:c.5137-1G>A
  • NM_001407935.1:c.5137-1G>A
  • NM_001407936.1:c.5137-1G>A
  • NM_001407937.1:c.5210-1G>A
  • NM_001407938.1:c.5210-1G>A
  • NM_001407939.1:c.5207-1G>A
  • NM_001407940.1:c.5207-1G>A
  • NM_001407941.1:c.5204-1G>A
  • NM_001407942.1:c.5192-1G>A
  • NM_001407943.1:c.5189-1G>A
  • NM_001407944.1:c.5189-1G>A
  • NM_001407945.1:c.5189-1G>A
  • NM_001407946.1:c.5074-1G>A
  • NM_001407947.1:c.5074-1G>A
  • NM_001407948.1:c.5074-1G>A
  • NM_001407949.1:c.5074-1G>A
  • NM_001407950.1:c.5071-1G>A
  • NM_001407951.1:c.5071-1G>A
  • NM_001407952.1:c.5071-1G>A
  • NM_001407953.1:c.5071-1G>A
  • NM_001407954.1:c.5071-1G>A
  • NM_001407955.1:c.5071-1G>A
  • NM_001407956.1:c.5068-1G>A
  • NM_001407957.1:c.5068-1G>A
  • NM_001407958.1:c.5068-1G>A
  • NM_001407959.1:c.5026-1G>A
  • NM_001407960.1:c.5023-1G>A
  • NM_001407962.1:c.5023-1G>A
  • NM_001407963.1:c.5020-1G>A
  • NM_001407964.1:c.4945-1G>A
  • NM_001407965.1:c.4900-1G>A
  • NM_001407966.1:c.4519-1G>A
  • NM_001407967.1:c.4516-1G>A
  • NM_001407968.1:c.2803-1G>A
  • NM_001407969.1:c.2800-1G>A
  • NM_001407970.1:c.2164-1G>A
  • NM_001407971.1:c.2164-1G>A
  • NM_001407972.1:c.2161-1G>A
  • NM_001407973.1:c.2098-1G>A
  • NM_001407974.1:c.2098-1G>A
  • NM_001407975.1:c.2098-1G>A
  • NM_001407976.1:c.2098-1G>A
  • NM_001407977.1:c.2098-1G>A
  • NM_001407978.1:c.2098-1G>A
  • NM_001407979.1:c.2095-1G>A
  • NM_001407980.1:c.2095-1G>A
  • NM_001407981.1:c.2095-1G>A
  • NM_001407982.1:c.2095-1G>A
  • NM_001407983.1:c.2095-1G>A
  • NM_001407984.1:c.2095-1G>A
  • NM_001407985.1:c.2095-1G>A
  • NM_001407986.1:c.2095-1G>A
  • NM_001407990.1:c.2095-1G>A
  • NM_001407991.1:c.2095-1G>A
  • NM_001407992.1:c.2095-1G>A
  • NM_001407993.1:c.2095-1G>A
  • NM_001408392.1:c.2092-1G>A
  • NM_001408396.1:c.2092-1G>A
  • NM_001408397.1:c.2092-1G>A
  • NM_001408398.1:c.2092-1G>A
  • NM_001408399.1:c.2092-1G>A
  • NM_001408400.1:c.2092-1G>A
  • NM_001408401.1:c.2092-1G>A
  • NM_001408402.1:c.2092-1G>A
  • NM_001408403.1:c.2092-1G>A
  • NM_001408404.1:c.2092-1G>A
  • NM_001408406.1:c.2089-1G>A
  • NM_001408407.1:c.2089-1G>A
  • NM_001408408.1:c.2089-1G>A
  • NM_001408409.1:c.2086-1G>A
  • NM_001408410.1:c.2023-1G>A
  • NM_001408411.1:c.2020-1G>A
  • NM_001408412.1:c.2017-1G>A
  • NM_001408413.1:c.2017-1G>A
  • NM_001408414.1:c.2017-1G>A
  • NM_001408415.1:c.2017-1G>A
  • NM_001408416.1:c.2017-1G>A
  • NM_001408418.1:c.1981-1G>A
  • NM_001408419.1:c.1981-1G>A
  • NM_001408420.1:c.1981-1G>A
  • NM_001408421.1:c.1978-1G>A
  • NM_001408422.1:c.1978-1G>A
  • NM_001408423.1:c.1978-1G>A
  • NM_001408424.1:c.1978-1G>A
  • NM_001408425.1:c.1975-1G>A
  • NM_001408426.1:c.1975-1G>A
  • NM_001408427.1:c.1975-1G>A
  • NM_001408428.1:c.1975-1G>A
  • NM_001408429.1:c.1975-1G>A
  • NM_001408430.1:c.1975-1G>A
  • NM_001408431.1:c.1975-1G>A
  • NM_001408432.1:c.1972-1G>A
  • NM_001408433.1:c.1972-1G>A
  • NM_001408434.1:c.1972-1G>A
  • NM_001408435.1:c.1972-1G>A
  • NM_001408436.1:c.1972-1G>A
  • NM_001408437.1:c.1972-1G>A
  • NM_001408438.1:c.1972-1G>A
  • NM_001408439.1:c.1972-1G>A
  • NM_001408440.1:c.1972-1G>A
  • NM_001408441.1:c.1972-1G>A
  • NM_001408442.1:c.1972-1G>A
  • NM_001408443.1:c.1972-1G>A
  • NM_001408444.1:c.1972-1G>A
  • NM_001408445.1:c.1969-1G>A
  • NM_001408446.1:c.1969-1G>A
  • NM_001408447.1:c.1969-1G>A
  • NM_001408448.1:c.1969-1G>A
  • NM_001408450.1:c.1969-1G>A
  • NM_001408451.1:c.1963-1G>A
  • NM_001408452.1:c.1957-1G>A
  • NM_001408453.1:c.1957-1G>A
  • NM_001408454.1:c.1957-1G>A
  • NM_001408455.1:c.1957-1G>A
  • NM_001408456.1:c.1957-1G>A
  • NM_001408457.1:c.1957-1G>A
  • NM_001408458.1:c.1954-1G>A
  • NM_001408459.1:c.1954-1G>A
  • NM_001408460.1:c.1954-1G>A
  • NM_001408461.1:c.1954-1G>A
  • NM_001408462.1:c.1954-1G>A
  • NM_001408463.1:c.1954-1G>A
  • NM_001408464.1:c.1954-1G>A
  • NM_001408465.1:c.1954-1G>A
  • NM_001408466.1:c.1954-1G>A
  • NM_001408467.1:c.1954-1G>A
  • NM_001408468.1:c.1951-1G>A
  • NM_001408469.1:c.1951-1G>A
  • NM_001408470.1:c.1951-1G>A
  • NM_001408472.1:c.2021-1G>A
  • NM_001408473.1:c.2018-1G>A
  • NM_001408474.1:c.1897-1G>A
  • NM_001408475.1:c.1894-1G>A
  • NM_001408476.1:c.1894-1G>A
  • NM_001408478.1:c.1888-1G>A
  • NM_001408479.1:c.1888-1G>A
  • NM_001408480.1:c.1888-1G>A
  • NM_001408481.1:c.1885-1G>A
  • NM_001408482.1:c.1885-1G>A
  • NM_001408483.1:c.1885-1G>A
  • NM_001408484.1:c.1885-1G>A
  • NM_001408485.1:c.1885-1G>A
  • NM_001408489.1:c.1885-1G>A
  • NM_001408490.1:c.1885-1G>A
  • NM_001408491.1:c.1885-1G>A
  • NM_001408492.1:c.1882-1G>A
  • NM_001408493.1:c.1882-1G>A
  • NM_001408494.1:c.1858-1G>A
  • NM_001408495.1:c.1852-1G>A
  • NM_001408496.1:c.1834-1G>A
  • NM_001408497.1:c.1834-1G>A
  • NM_001408498.1:c.1834-1G>A
  • NM_001408499.1:c.1834-1G>A
  • NM_001408500.1:c.1834-1G>A
  • NM_001408501.1:c.1834-1G>A
  • NM_001408502.1:c.1831-1G>A
  • NM_001408503.1:c.1831-1G>A
  • NM_001408504.1:c.1831-1G>A
  • NM_001408505.1:c.1828-1G>A
  • NM_001408506.1:c.1771-1G>A
  • NM_001408507.1:c.1768-1G>A
  • NM_001408508.1:c.1759-1G>A
  • NM_001408509.1:c.1756-1G>A
  • NM_001408510.1:c.1717-1G>A
  • NM_001408511.1:c.1714-1G>A
  • NM_001408512.1:c.1594-1G>A
  • NM_001408513.1:c.1567-1G>A
  • NM_001408514.1:c.1171-1G>A
  • NM_007294.4:c.5407-1G>AMANE SELECT
  • NM_007297.4:c.5266-1G>A
  • NM_007298.4:c.2095-1G>A
  • NM_007299.4:c.2021-1G>A
  • NM_007300.4:c.5470-1G>A
  • LRG_292t1:c.5407-1G>A
  • LRG_292:g.170280G>A
  • NC_000017.10:g.41199721C>T
  • NM_007294.3:c.5407-1G>A
  • U14680.1:n.5526-1G>A
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5526-1&base_change=G to A; dbSNP: rs80358029
NCBI 1000 Genomes Browser:
rs80358029
Molecular consequence:
  • NM_001407571.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407581.1:c.5473-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407582.1:c.5473-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407583.1:c.5470-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407585.1:c.5470-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407587.1:c.5470-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407590.1:c.5467-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407591.1:c.5467-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407593.1:c.5407-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407594.1:c.5407-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407596.1:c.5407-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407597.1:c.5407-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407598.1:c.5407-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407602.1:c.5407-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407603.1:c.5407-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407605.1:c.5407-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407610.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407611.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407612.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407613.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407614.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407615.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407616.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407617.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407618.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407619.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407620.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407621.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407622.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407623.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407624.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407625.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407626.1:c.5404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407627.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407628.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407629.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407630.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407631.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407632.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407633.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407634.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407635.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407636.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407637.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407638.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407639.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407640.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407641.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407642.1:c.5401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407644.1:c.5398-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407645.1:c.5398-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407646.1:c.5395-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407647.1:c.5392-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407648.1:c.5350-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407649.1:c.5347-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407652.1:c.5329-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407653.1:c.5329-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407654.1:c.5329-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407655.1:c.5329-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407656.1:c.5326-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407657.1:c.5326-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407658.1:c.5326-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407659.1:c.5323-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407660.1:c.5323-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407661.1:c.5323-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407662.1:c.5323-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407663.1:c.5323-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407664.1:c.5284-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407665.1:c.5284-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407666.1:c.5284-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407667.1:c.5284-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407668.1:c.5284-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407669.1:c.5284-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407670.1:c.5281-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407671.1:c.5281-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407672.1:c.5281-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407673.1:c.5281-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407674.1:c.5281-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407675.1:c.5281-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407676.1:c.5281-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407677.1:c.5281-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407678.1:c.5281-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407679.1:c.5281-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407680.1:c.5281-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407681.1:c.5278-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407682.1:c.5278-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407683.1:c.5278-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407684.1:c.5278-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407685.1:c.5278-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407686.1:c.5278-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407687.1:c.5278-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407688.1:c.5278-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407689.1:c.5278-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407690.1:c.5275-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407691.1:c.5275-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407692.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407694.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407695.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407696.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407697.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407698.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407724.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407725.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407726.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407727.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407728.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407729.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407730.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407731.1:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407732.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407733.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407734.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407735.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407736.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407737.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407738.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407739.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407740.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407741.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407742.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407743.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407744.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407745.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407746.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407747.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407748.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407749.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407750.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407751.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407752.1:c.5263-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407838.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407839.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407841.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407842.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407843.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407844.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407845.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407846.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407847.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407848.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407849.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407850.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407851.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407852.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407853.1:c.5260-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407854.1:c.5333-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407858.1:c.5330-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407859.1:c.5330-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407860.1:c.5330-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407861.1:c.5327-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407862.1:c.5206-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407863.1:c.5203-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407874.1:c.5200-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407875.1:c.5200-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407879.1:c.5197-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407881.1:c.5197-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407882.1:c.5197-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407884.1:c.5197-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407885.1:c.5197-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407886.1:c.5197-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407887.1:c.5197-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407889.1:c.5197-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407894.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407895.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407896.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407897.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407898.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407899.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407900.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407902.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407904.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407906.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407907.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407908.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407909.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407910.1:c.5194-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407915.1:c.5191-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407916.1:c.5191-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407917.1:c.5191-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407918.1:c.5191-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407919.1:c.5155-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407920.1:c.5143-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407921.1:c.5143-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407922.1:c.5143-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407923.1:c.5143-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407924.1:c.5143-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407925.1:c.5143-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407926.1:c.5143-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407927.1:c.5140-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407928.1:c.5140-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407929.1:c.5140-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407930.1:c.5140-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407931.1:c.5140-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407932.1:c.5140-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407933.1:c.5140-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407934.1:c.5137-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407935.1:c.5137-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407936.1:c.5137-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407937.1:c.5210-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407938.1:c.5210-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407939.1:c.5207-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407940.1:c.5207-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407941.1:c.5204-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407942.1:c.5192-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407943.1:c.5189-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407944.1:c.5189-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407945.1:c.5189-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407946.1:c.5074-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407947.1:c.5074-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407948.1:c.5074-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407949.1:c.5074-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407950.1:c.5071-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407951.1:c.5071-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407952.1:c.5071-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407953.1:c.5071-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407954.1:c.5071-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407955.1:c.5071-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407956.1:c.5068-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407957.1:c.5068-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407958.1:c.5068-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407959.1:c.5026-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407960.1:c.5023-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407962.1:c.5023-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407963.1:c.5020-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407964.1:c.4945-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407965.1:c.4900-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407966.1:c.4519-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407967.1:c.4516-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407968.1:c.2803-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407969.1:c.2800-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407970.1:c.2164-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407971.1:c.2164-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407972.1:c.2161-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407973.1:c.2098-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407974.1:c.2098-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407975.1:c.2098-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407976.1:c.2098-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407977.1:c.2098-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407978.1:c.2098-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407979.1:c.2095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407980.1:c.2095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407981.1:c.2095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407982.1:c.2095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407983.1:c.2095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407984.1:c.2095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407985.1:c.2095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407986.1:c.2095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407990.1:c.2095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407991.1:c.2095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407992.1:c.2095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407993.1:c.2095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408392.1:c.2092-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408396.1:c.2092-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408397.1:c.2092-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408398.1:c.2092-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408399.1:c.2092-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408400.1:c.2092-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408401.1:c.2092-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408402.1:c.2092-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408403.1:c.2092-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408404.1:c.2092-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408406.1:c.2089-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408407.1:c.2089-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408408.1:c.2089-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408409.1:c.2086-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408410.1:c.2023-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408411.1:c.2020-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408412.1:c.2017-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408413.1:c.2017-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408414.1:c.2017-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408415.1:c.2017-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408416.1:c.2017-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408418.1:c.1981-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408419.1:c.1981-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408420.1:c.1981-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408421.1:c.1978-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408422.1:c.1978-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408423.1:c.1978-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408424.1:c.1978-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408425.1:c.1975-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408426.1:c.1975-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408427.1:c.1975-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408428.1:c.1975-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408429.1:c.1975-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408430.1:c.1975-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408431.1:c.1975-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408432.1:c.1972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408433.1:c.1972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408434.1:c.1972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408435.1:c.1972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408436.1:c.1972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408437.1:c.1972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408438.1:c.1972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408439.1:c.1972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408440.1:c.1972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408441.1:c.1972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408442.1:c.1972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408443.1:c.1972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408444.1:c.1972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408445.1:c.1969-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408446.1:c.1969-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408447.1:c.1969-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408448.1:c.1969-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408450.1:c.1969-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408451.1:c.1963-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408452.1:c.1957-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408453.1:c.1957-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408454.1:c.1957-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408455.1:c.1957-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408456.1:c.1957-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408457.1:c.1957-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408458.1:c.1954-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408459.1:c.1954-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408460.1:c.1954-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408461.1:c.1954-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408462.1:c.1954-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408463.1:c.1954-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408464.1:c.1954-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408465.1:c.1954-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408466.1:c.1954-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408467.1:c.1954-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408468.1:c.1951-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408469.1:c.1951-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408470.1:c.1951-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408472.1:c.2021-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408473.1:c.2018-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408474.1:c.1897-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408475.1:c.1894-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408476.1:c.1894-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408478.1:c.1888-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408479.1:c.1888-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408480.1:c.1888-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408481.1:c.1885-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408482.1:c.1885-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408483.1:c.1885-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408484.1:c.1885-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408485.1:c.1885-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408489.1:c.1885-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408490.1:c.1885-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408491.1:c.1885-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408492.1:c.1882-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408493.1:c.1882-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408494.1:c.1858-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408495.1:c.1852-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408496.1:c.1834-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408497.1:c.1834-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408498.1:c.1834-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408499.1:c.1834-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408500.1:c.1834-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408501.1:c.1834-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408502.1:c.1831-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408503.1:c.1831-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408504.1:c.1831-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408505.1:c.1828-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408506.1:c.1771-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408507.1:c.1768-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408508.1:c.1759-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408509.1:c.1756-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408510.1:c.1717-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408511.1:c.1714-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408512.1:c.1594-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408513.1:c.1567-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408514.1:c.1171-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007294.4:c.5407-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007297.4:c.5266-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007298.4:c.2095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007299.4:c.2021-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007300.4:c.5470-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002774313Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Aug 12, 2021) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002774313.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is located in a canonical splice-acceptor site and is predicted to interfere with normal BRCA1 mRNA splicing. The variant has been identified in a large, worldwide study of BRCA1/2 mutation positive families in the published literature (PMID: 29446198 (2018)). In addition, functional studies in the published literature demonstrate that this variant is damaging to BRCA1 protein function, however further studies are needed to determine the global effect of this variant on BRCA1-related cancers (PMID: 30209399 (2018)). Based on the available information, this variant is classified as pathogenic.

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

Last Updated: Oct 8, 2024