U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.4185+9C>T AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Feb 28, 2022
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:
RCV000438146.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.4185+9C>T]

NM_007294.4(BRCA1):c.4185+9C>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.4185+9C>T
HGVS:
  • NC_000017.11:g.43090935G>A
  • NG_005905.2:g.127049C>T
  • NM_001407571.1:c.3972+9C>T
  • NM_001407581.1:c.4185+9C>T
  • NM_001407582.1:c.4185+9C>T
  • NM_001407583.1:c.4185+9C>T
  • NM_001407585.1:c.4185+9C>T
  • NM_001407587.1:c.4182+9C>T
  • NM_001407590.1:c.4182+9C>T
  • NM_001407591.1:c.4182+9C>T
  • NM_001407593.1:c.4185+9C>T
  • NM_001407594.1:c.4185+9C>T
  • NM_001407596.1:c.4185+9C>T
  • NM_001407597.1:c.4185+9C>T
  • NM_001407598.1:c.4185+9C>T
  • NM_001407602.1:c.4185+9C>T
  • NM_001407603.1:c.4185+9C>T
  • NM_001407605.1:c.4185+9C>T
  • NM_001407610.1:c.4182+9C>T
  • NM_001407611.1:c.4182+9C>T
  • NM_001407612.1:c.4182+9C>T
  • NM_001407613.1:c.4182+9C>T
  • NM_001407614.1:c.4182+9C>T
  • NM_001407615.1:c.4182+9C>T
  • NM_001407616.1:c.4185+9C>T
  • NM_001407617.1:c.4185+9C>T
  • NM_001407618.1:c.4185+9C>T
  • NM_001407619.1:c.4185+9C>T
  • NM_001407620.1:c.4185+9C>T
  • NM_001407621.1:c.4185+9C>T
  • NM_001407622.1:c.4185+9C>T
  • NM_001407623.1:c.4185+9C>T
  • NM_001407624.1:c.4185+9C>T
  • NM_001407625.1:c.4185+9C>T
  • NM_001407626.1:c.4185+9C>T
  • NM_001407627.1:c.4182+9C>T
  • NM_001407628.1:c.4182+9C>T
  • NM_001407629.1:c.4182+9C>T
  • NM_001407630.1:c.4182+9C>T
  • NM_001407631.1:c.4182+9C>T
  • NM_001407632.1:c.4182+9C>T
  • NM_001407633.1:c.4182+9C>T
  • NM_001407634.1:c.4182+9C>T
  • NM_001407635.1:c.4182+9C>T
  • NM_001407636.1:c.4182+9C>T
  • NM_001407637.1:c.4182+9C>T
  • NM_001407638.1:c.4182+9C>T
  • NM_001407639.1:c.4185+9C>T
  • NM_001407640.1:c.4185+9C>T
  • NM_001407641.1:c.4185+9C>T
  • NM_001407642.1:c.4185+9C>T
  • NM_001407644.1:c.4182+9C>T
  • NM_001407645.1:c.4182+9C>T
  • NM_001407646.1:c.4176+9C>T
  • NM_001407647.1:c.4176+9C>T
  • NM_001407648.1:c.4062+9C>T
  • NM_001407649.1:c.4059+9C>T
  • NM_001407652.1:c.4185+9C>T
  • NM_001407653.1:c.4107+9C>T
  • NM_001407654.1:c.4107+9C>T
  • NM_001407655.1:c.4107+9C>T
  • NM_001407656.1:c.4107+9C>T
  • NM_001407657.1:c.4107+9C>T
  • NM_001407658.1:c.4107+9C>T
  • NM_001407659.1:c.4104+9C>T
  • NM_001407660.1:c.4104+9C>T
  • NM_001407661.1:c.4104+9C>T
  • NM_001407662.1:c.4104+9C>T
  • NM_001407663.1:c.4107+9C>T
  • NM_001407664.1:c.4062+9C>T
  • NM_001407665.1:c.4062+9C>T
  • NM_001407666.1:c.4062+9C>T
  • NM_001407667.1:c.4062+9C>T
  • NM_001407668.1:c.4062+9C>T
  • NM_001407669.1:c.4062+9C>T
  • NM_001407670.1:c.4059+9C>T
  • NM_001407671.1:c.4059+9C>T
  • NM_001407672.1:c.4059+9C>T
  • NM_001407673.1:c.4059+9C>T
  • NM_001407674.1:c.4062+9C>T
  • NM_001407675.1:c.4062+9C>T
  • NM_001407676.1:c.4062+9C>T
  • NM_001407677.1:c.4062+9C>T
  • NM_001407678.1:c.4062+9C>T
  • NM_001407679.1:c.4062+9C>T
  • NM_001407680.1:c.4062+9C>T
  • NM_001407681.1:c.4062+9C>T
  • NM_001407682.1:c.4062+9C>T
  • NM_001407683.1:c.4062+9C>T
  • NM_001407684.1:c.4185+9C>T
  • NM_001407685.1:c.4059+9C>T
  • NM_001407686.1:c.4059+9C>T
  • NM_001407687.1:c.4059+9C>T
  • NM_001407688.1:c.4059+9C>T
  • NM_001407689.1:c.4059+9C>T
  • NM_001407690.1:c.4059+9C>T
  • NM_001407691.1:c.4059+9C>T
  • NM_001407692.1:c.4044+9C>T
  • NM_001407694.1:c.4044+9C>T
  • NM_001407695.1:c.4044+9C>T
  • NM_001407696.1:c.4044+9C>T
  • NM_001407697.1:c.4044+9C>T
  • NM_001407698.1:c.4044+9C>T
  • NM_001407724.1:c.4044+9C>T
  • NM_001407725.1:c.4044+9C>T
  • NM_001407726.1:c.4044+9C>T
  • NM_001407727.1:c.4044+9C>T
  • NM_001407728.1:c.4044+9C>T
  • NM_001407729.1:c.4044+9C>T
  • NM_001407730.1:c.4044+9C>T
  • NM_001407731.1:c.4044+9C>T
  • NM_001407732.1:c.4044+9C>T
  • NM_001407733.1:c.4044+9C>T
  • NM_001407734.1:c.4044+9C>T
  • NM_001407735.1:c.4044+9C>T
  • NM_001407736.1:c.4044+9C>T
  • NM_001407737.1:c.4044+9C>T
  • NM_001407738.1:c.4044+9C>T
  • NM_001407739.1:c.4044+9C>T
  • NM_001407740.1:c.4041+9C>T
  • NM_001407741.1:c.4041+9C>T
  • NM_001407742.1:c.4041+9C>T
  • NM_001407743.1:c.4041+9C>T
  • NM_001407744.1:c.4041+9C>T
  • NM_001407745.1:c.4041+9C>T
  • NM_001407746.1:c.4041+9C>T
  • NM_001407747.1:c.4041+9C>T
  • NM_001407748.1:c.4041+9C>T
  • NM_001407749.1:c.4041+9C>T
  • NM_001407750.1:c.4044+9C>T
  • NM_001407751.1:c.4044+9C>T
  • NM_001407752.1:c.4044+9C>T
  • NM_001407838.1:c.4041+9C>T
  • NM_001407839.1:c.4041+9C>T
  • NM_001407841.1:c.4041+9C>T
  • NM_001407842.1:c.4041+9C>T
  • NM_001407843.1:c.4041+9C>T
  • NM_001407844.1:c.4041+9C>T
  • NM_001407845.1:c.4041+9C>T
  • NM_001407846.1:c.4041+9C>T
  • NM_001407847.1:c.4041+9C>T
  • NM_001407848.1:c.4041+9C>T
  • NM_001407849.1:c.4041+9C>T
  • NM_001407850.1:c.4044+9C>T
  • NM_001407851.1:c.4044+9C>T
  • NM_001407852.1:c.4044+9C>T
  • NM_001407853.1:c.3972+9C>T
  • NM_001407854.1:c.4185+9C>T
  • NM_001407858.1:c.4185+9C>T
  • NM_001407859.1:c.4185+9C>T
  • NM_001407860.1:c.4182+9C>T
  • NM_001407861.1:c.4182+9C>T
  • NM_001407862.1:c.3984+9C>T
  • NM_001407863.1:c.4062+9C>T
  • NM_001407874.1:c.3981+9C>T
  • NM_001407875.1:c.3981+9C>T
  • NM_001407879.1:c.3975+9C>T
  • NM_001407881.1:c.3975+9C>T
  • NM_001407882.1:c.3975+9C>T
  • NM_001407884.1:c.3975+9C>T
  • NM_001407885.1:c.3975+9C>T
  • NM_001407886.1:c.3975+9C>T
  • NM_001407887.1:c.3975+9C>T
  • NM_001407889.1:c.3975+9C>T
  • NM_001407894.1:c.3972+9C>T
  • NM_001407895.1:c.3972+9C>T
  • NM_001407896.1:c.3972+9C>T
  • NM_001407897.1:c.3972+9C>T
  • NM_001407898.1:c.3972+9C>T
  • NM_001407899.1:c.3972+9C>T
  • NM_001407900.1:c.3975+9C>T
  • NM_001407902.1:c.3975+9C>T
  • NM_001407904.1:c.3975+9C>T
  • NM_001407906.1:c.3975+9C>T
  • NM_001407907.1:c.3975+9C>T
  • NM_001407908.1:c.3975+9C>T
  • NM_001407909.1:c.3975+9C>T
  • NM_001407910.1:c.3975+9C>T
  • NM_001407915.1:c.3972+9C>T
  • NM_001407916.1:c.3972+9C>T
  • NM_001407917.1:c.3972+9C>T
  • NM_001407918.1:c.3972+9C>T
  • NM_001407919.1:c.4062+9C>T
  • NM_001407920.1:c.3921+9C>T
  • NM_001407921.1:c.3921+9C>T
  • NM_001407922.1:c.3921+9C>T
  • NM_001407923.1:c.3921+9C>T
  • NM_001407924.1:c.3921+9C>T
  • NM_001407925.1:c.3921+9C>T
  • NM_001407926.1:c.3921+9C>T
  • NM_001407927.1:c.3921+9C>T
  • NM_001407928.1:c.3921+9C>T
  • NM_001407929.1:c.3921+9C>T
  • NM_001407930.1:c.3918+9C>T
  • NM_001407931.1:c.3918+9C>T
  • NM_001407932.1:c.3918+9C>T
  • NM_001407933.1:c.3921+9C>T
  • NM_001407934.1:c.3918+9C>T
  • NM_001407935.1:c.3921+9C>T
  • NM_001407936.1:c.3918+9C>T
  • NM_001407937.1:c.4062+9C>T
  • NM_001407938.1:c.4062+9C>T
  • NM_001407939.1:c.4062+9C>T
  • NM_001407940.1:c.4059+9C>T
  • NM_001407941.1:c.4059+9C>T
  • NM_001407942.1:c.4044+9C>T
  • NM_001407943.1:c.4041+9C>T
  • NM_001407944.1:c.4044+9C>T
  • NM_001407945.1:c.4044+9C>T
  • NM_001407946.1:c.3852+9C>T
  • NM_001407947.1:c.3852+9C>T
  • NM_001407948.1:c.3852+9C>T
  • NM_001407949.1:c.3852+9C>T
  • NM_001407950.1:c.3852+9C>T
  • NM_001407951.1:c.3852+9C>T
  • NM_001407952.1:c.3852+9C>T
  • NM_001407953.1:c.3852+9C>T
  • NM_001407954.1:c.3849+9C>T
  • NM_001407955.1:c.3849+9C>T
  • NM_001407956.1:c.3849+9C>T
  • NM_001407957.1:c.3852+9C>T
  • NM_001407958.1:c.3849+9C>T
  • NM_001407959.1:c.3804+9C>T
  • NM_001407960.1:c.3804+9C>T
  • NM_001407962.1:c.3801+9C>T
  • NM_001407963.1:c.3804+9C>T
  • NM_001407964.1:c.4041+9C>T
  • NM_001407965.1:c.3681+9C>T
  • NM_001407966.1:c.3297+9C>T
  • NM_001407967.1:c.3297+9C>T
  • NM_001407968.1:c.1581+9C>T
  • NM_001407969.1:c.1581+9C>T
  • NM_001407970.1:c.876+9C>T
  • NM_001407971.1:c.876+9C>T
  • NM_001407972.1:c.873+9C>T
  • NM_001407973.1:c.876+9C>T
  • NM_001407974.1:c.876+9C>T
  • NM_001407975.1:c.876+9C>T
  • NM_001407976.1:c.876+9C>T
  • NM_001407977.1:c.876+9C>T
  • NM_001407978.1:c.876+9C>T
  • NM_001407979.1:c.876+9C>T
  • NM_001407980.1:c.876+9C>T
  • NM_001407981.1:c.876+9C>T
  • NM_001407982.1:c.876+9C>T
  • NM_001407983.1:c.876+9C>T
  • NM_001407984.1:c.873+9C>T
  • NM_001407985.1:c.873+9C>T
  • NM_001407986.1:c.873+9C>T
  • NM_001407990.1:c.876+9C>T
  • NM_001407991.1:c.873+9C>T
  • NM_001407992.1:c.873+9C>T
  • NM_001407993.1:c.876+9C>T
  • NM_001408392.1:c.873+9C>T
  • NM_001408396.1:c.873+9C>T
  • NM_001408397.1:c.873+9C>T
  • NM_001408398.1:c.873+9C>T
  • NM_001408399.1:c.873+9C>T
  • NM_001408400.1:c.873+9C>T
  • NM_001408401.1:c.873+9C>T
  • NM_001408402.1:c.873+9C>T
  • NM_001408403.1:c.876+9C>T
  • NM_001408404.1:c.876+9C>T
  • NM_001408406.1:c.870+9C>T
  • NM_001408407.1:c.873+9C>T
  • NM_001408408.1:c.867+9C>T
  • NM_001408409.1:c.798+9C>T
  • NM_001408410.1:c.735+9C>T
  • NM_001408411.1:c.798+9C>T
  • NM_001408412.1:c.798+9C>T
  • NM_001408413.1:c.795+9C>T
  • NM_001408414.1:c.798+9C>T
  • NM_001408415.1:c.798+9C>T
  • NM_001408416.1:c.795+9C>T
  • NM_001408418.1:c.759+9C>T
  • NM_001408419.1:c.759+9C>T
  • NM_001408420.1:c.759+9C>T
  • NM_001408421.1:c.756+9C>T
  • NM_001408422.1:c.759+9C>T
  • NM_001408423.1:c.759+9C>T
  • NM_001408424.1:c.756+9C>T
  • NM_001408425.1:c.753+9C>T
  • NM_001408426.1:c.753+9C>T
  • NM_001408427.1:c.753+9C>T
  • NM_001408428.1:c.753+9C>T
  • NM_001408429.1:c.753+9C>T
  • NM_001408430.1:c.753+9C>T
  • NM_001408431.1:c.756+9C>T
  • NM_001408432.1:c.750+9C>T
  • NM_001408433.1:c.750+9C>T
  • NM_001408434.1:c.750+9C>T
  • NM_001408435.1:c.750+9C>T
  • NM_001408436.1:c.753+9C>T
  • NM_001408437.1:c.753+9C>T
  • NM_001408438.1:c.753+9C>T
  • NM_001408439.1:c.753+9C>T
  • NM_001408440.1:c.753+9C>T
  • NM_001408441.1:c.753+9C>T
  • NM_001408442.1:c.753+9C>T
  • NM_001408443.1:c.753+9C>T
  • NM_001408444.1:c.753+9C>T
  • NM_001408445.1:c.750+9C>T
  • NM_001408446.1:c.750+9C>T
  • NM_001408447.1:c.750+9C>T
  • NM_001408448.1:c.750+9C>T
  • NM_001408450.1:c.750+9C>T
  • NM_001408451.1:c.741+9C>T
  • NM_001408452.1:c.735+9C>T
  • NM_001408453.1:c.735+9C>T
  • NM_001408454.1:c.735+9C>T
  • NM_001408455.1:c.735+9C>T
  • NM_001408456.1:c.735+9C>T
  • NM_001408457.1:c.735+9C>T
  • NM_001408458.1:c.735+9C>T
  • NM_001408459.1:c.735+9C>T
  • NM_001408460.1:c.735+9C>T
  • NM_001408461.1:c.735+9C>T
  • NM_001408462.1:c.732+9C>T
  • NM_001408463.1:c.732+9C>T
  • NM_001408464.1:c.732+9C>T
  • NM_001408465.1:c.732+9C>T
  • NM_001408466.1:c.735+9C>T
  • NM_001408467.1:c.735+9C>T
  • NM_001408468.1:c.732+9C>T
  • NM_001408469.1:c.735+9C>T
  • NM_001408470.1:c.732+9C>T
  • NM_001408472.1:c.876+9C>T
  • NM_001408473.1:c.873+9C>T
  • NM_001408474.1:c.675+9C>T
  • NM_001408475.1:c.672+9C>T
  • NM_001408476.1:c.675+9C>T
  • NM_001408478.1:c.666+9C>T
  • NM_001408479.1:c.666+9C>T
  • NM_001408480.1:c.666+9C>T
  • NM_001408481.1:c.666+9C>T
  • NM_001408482.1:c.666+9C>T
  • NM_001408483.1:c.666+9C>T
  • NM_001408484.1:c.666+9C>T
  • NM_001408485.1:c.666+9C>T
  • NM_001408489.1:c.666+9C>T
  • NM_001408490.1:c.663+9C>T
  • NM_001408491.1:c.663+9C>T
  • NM_001408492.1:c.666+9C>T
  • NM_001408493.1:c.663+9C>T
  • NM_001408494.1:c.636+9C>T
  • NM_001408495.1:c.633+9C>T
  • NM_001408496.1:c.612+9C>T
  • NM_001408497.1:c.612+9C>T
  • NM_001408498.1:c.612+9C>T
  • NM_001408499.1:c.612+9C>T
  • NM_001408500.1:c.612+9C>T
  • NM_001408501.1:c.612+9C>T
  • NM_001408502.1:c.543+9C>T
  • NM_001408503.1:c.609+9C>T
  • NM_001408504.1:c.609+9C>T
  • NM_001408505.1:c.609+9C>T
  • NM_001408506.1:c.549+9C>T
  • NM_001408507.1:c.549+9C>T
  • NM_001408508.1:c.540+9C>T
  • NM_001408509.1:c.540+9C>T
  • NM_001408510.1:c.495+9C>T
  • NM_001408511.1:c.492+9C>T
  • NM_001408512.1:c.372+9C>T
  • NM_001408513.1:c.666+9C>T
  • NM_001408514.1:c.666+9C>T
  • NM_007294.4:c.4185+9C>TMANE SELECT
  • NM_007297.4:c.4044+9C>T
  • NM_007298.4:c.876+9C>T
  • NM_007299.4:c.876+9C>T
  • NM_007300.4:c.4185+9C>T
  • LRG_292t1:c.4185+9C>T
  • LRG_292:g.127049C>T
  • NC_000017.10:g.41242952G>A
  • NM_007294.3:c.4185+9C>T
  • U14680.1:n.4304+9C>T
Nucleotide change:
IVS12+9C>T
Links:
Breast Cancer Information Core (BIC) (BRCA1): 4304+9&base_change=C to T; dbSNP: rs80358034
NCBI 1000 Genomes Browser:
rs80358034
Molecular consequence:
  • NM_001407571.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.4176+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.4176+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.4104+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.4104+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.4104+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.4104+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.3984+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.3981+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.3981+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.3918+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.3918+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.3918+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.3918+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.3918+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.3849+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.3849+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.3849+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.3849+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.3804+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.3804+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.3801+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.3804+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.3681+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.3297+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.3297+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.1581+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.1581+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.870+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.867+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.798+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.798+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.798+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.795+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.798+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.798+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.795+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.759+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.759+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.759+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.756+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.759+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.759+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.756+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.756+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.741+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.732+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.732+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.732+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.732+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.732+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.732+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.675+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.672+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.675+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.663+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.663+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.663+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.636+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.633+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.612+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.612+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.612+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.612+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.612+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.612+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.543+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.609+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.609+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.609+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.549+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.549+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.540+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.540+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.495+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.492+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.372+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000515772GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Oct 24, 2017) 		germlineclinical testing

Citation Link,

SCV000699116Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Feb 28, 2022) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]
PMID:
16267036

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL, Fox SB, Mitchell G, Scott RJ, Beshay V, Wong SQ; kConFab Investigators., Dobrovic A.

BMC Cancer. 2011 Jun 24;11:265. doi: 10.1186/1471-2407-11-265.

PubMed [citation]
PMID:
21702907
PMCID:
PMC3146935
See all PubMed Citations (6)

Details of each submission

From GeneDx, SCV000515772.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699116.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

Variant summary: BRCA1 c.4185+9C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 2/4 tools predict that this variant may create a novel alternate 5' splicing donor site within the intron. However, experimental evidence evaluating an impact of the variant showed that wild type splicing was not affected (Whiley_2011). The variant allele was found at a frequency of 1.3e-05 in 237850 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4185+9C>T has been reported in the literature in individuals affected with Breast Cancer (e.g. Whiley_2011, Hondow_2011, Judkins_2005, Flower_2015). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer Syndrome. Co-occurrences with other pathogenic variants have been reported (e.g. BRCA2 c.1310_1313delAAGA (p.Lys437IlefsX22) in the UMD database; BRCA1 c.798_799delTT (p.Ser267LysfsX19) in an internal LCA sample), providing supporting evidence for a benign role. Five other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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

Last Updated: Oct 8, 2024