U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.4096+1G>A AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (9 submissions)
Last evaluated:
Apr 12, 2018
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000031146.20

Allele description [Variation Report for NM_007294.4(BRCA1):c.4096+1G>A]

NM_007294.4(BRCA1):c.4096+1G>A

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4096+1G>A
HGVS:
  • NC_000017.11:g.43091434C>T
  • NG_005905.2:g.126550G>A
  • NG_087068.1:g.416C>T
  • NM_001407571.1:c.3883+1G>A
  • NM_001407581.1:c.4096+1G>A
  • NM_001407582.1:c.4096+1G>A
  • NM_001407583.1:c.4096+1G>A
  • NM_001407585.1:c.4096+1G>A
  • NM_001407587.1:c.4093+1G>A
  • NM_001407590.1:c.4093+1G>A
  • NM_001407591.1:c.4093+1G>A
  • NM_001407593.1:c.4096+1G>A
  • NM_001407594.1:c.4096+1G>A
  • NM_001407596.1:c.4096+1G>A
  • NM_001407597.1:c.4096+1G>A
  • NM_001407598.1:c.4096+1G>A
  • NM_001407602.1:c.4096+1G>A
  • NM_001407603.1:c.4096+1G>A
  • NM_001407605.1:c.4096+1G>A
  • NM_001407610.1:c.4093+1G>A
  • NM_001407611.1:c.4093+1G>A
  • NM_001407612.1:c.4093+1G>A
  • NM_001407613.1:c.4093+1G>A
  • NM_001407614.1:c.4093+1G>A
  • NM_001407615.1:c.4093+1G>A
  • NM_001407616.1:c.4096+1G>A
  • NM_001407617.1:c.4096+1G>A
  • NM_001407618.1:c.4096+1G>A
  • NM_001407619.1:c.4096+1G>A
  • NM_001407620.1:c.4096+1G>A
  • NM_001407621.1:c.4096+1G>A
  • NM_001407622.1:c.4096+1G>A
  • NM_001407623.1:c.4096+1G>A
  • NM_001407624.1:c.4096+1G>A
  • NM_001407625.1:c.4096+1G>A
  • NM_001407626.1:c.4096+1G>A
  • NM_001407627.1:c.4093+1G>A
  • NM_001407628.1:c.4093+1G>A
  • NM_001407629.1:c.4093+1G>A
  • NM_001407630.1:c.4093+1G>A
  • NM_001407631.1:c.4093+1G>A
  • NM_001407632.1:c.4093+1G>A
  • NM_001407633.1:c.4093+1G>A
  • NM_001407634.1:c.4093+1G>A
  • NM_001407635.1:c.4093+1G>A
  • NM_001407636.1:c.4093+1G>A
  • NM_001407637.1:c.4093+1G>A
  • NM_001407638.1:c.4093+1G>A
  • NM_001407639.1:c.4096+1G>A
  • NM_001407640.1:c.4096+1G>A
  • NM_001407641.1:c.4096+1G>A
  • NM_001407642.1:c.4096+1G>A
  • NM_001407644.1:c.4093+1G>A
  • NM_001407645.1:c.4093+1G>A
  • NM_001407646.1:c.4087+1G>A
  • NM_001407647.1:c.4087+1G>A
  • NM_001407648.1:c.3973+1G>A
  • NM_001407649.1:c.3970+1G>A
  • NM_001407652.1:c.4096+1G>A
  • NM_001407653.1:c.4018+1G>A
  • NM_001407654.1:c.4018+1G>A
  • NM_001407655.1:c.4018+1G>A
  • NM_001407656.1:c.4018+1G>A
  • NM_001407657.1:c.4018+1G>A
  • NM_001407658.1:c.4018+1G>A
  • NM_001407659.1:c.4015+1G>A
  • NM_001407660.1:c.4015+1G>A
  • NM_001407661.1:c.4015+1G>A
  • NM_001407662.1:c.4015+1G>A
  • NM_001407663.1:c.4018+1G>A
  • NM_001407664.1:c.3973+1G>A
  • NM_001407665.1:c.3973+1G>A
  • NM_001407666.1:c.3973+1G>A
  • NM_001407667.1:c.3973+1G>A
  • NM_001407668.1:c.3973+1G>A
  • NM_001407669.1:c.3973+1G>A
  • NM_001407670.1:c.3970+1G>A
  • NM_001407671.1:c.3970+1G>A
  • NM_001407672.1:c.3970+1G>A
  • NM_001407673.1:c.3970+1G>A
  • NM_001407674.1:c.3973+1G>A
  • NM_001407675.1:c.3973+1G>A
  • NM_001407676.1:c.3973+1G>A
  • NM_001407677.1:c.3973+1G>A
  • NM_001407678.1:c.3973+1G>A
  • NM_001407679.1:c.3973+1G>A
  • NM_001407680.1:c.3973+1G>A
  • NM_001407681.1:c.3973+1G>A
  • NM_001407682.1:c.3973+1G>A
  • NM_001407683.1:c.3973+1G>A
  • NM_001407684.1:c.4096+1G>A
  • NM_001407685.1:c.3970+1G>A
  • NM_001407686.1:c.3970+1G>A
  • NM_001407687.1:c.3970+1G>A
  • NM_001407688.1:c.3970+1G>A
  • NM_001407689.1:c.3970+1G>A
  • NM_001407690.1:c.3970+1G>A
  • NM_001407691.1:c.3970+1G>A
  • NM_001407692.1:c.3955+1G>A
  • NM_001407694.1:c.3955+1G>A
  • NM_001407695.1:c.3955+1G>A
  • NM_001407696.1:c.3955+1G>A
  • NM_001407697.1:c.3955+1G>A
  • NM_001407698.1:c.3955+1G>A
  • NM_001407724.1:c.3955+1G>A
  • NM_001407725.1:c.3955+1G>A
  • NM_001407726.1:c.3955+1G>A
  • NM_001407727.1:c.3955+1G>A
  • NM_001407728.1:c.3955+1G>A
  • NM_001407729.1:c.3955+1G>A
  • NM_001407730.1:c.3955+1G>A
  • NM_001407731.1:c.3955+1G>A
  • NM_001407732.1:c.3955+1G>A
  • NM_001407733.1:c.3955+1G>A
  • NM_001407734.1:c.3955+1G>A
  • NM_001407735.1:c.3955+1G>A
  • NM_001407736.1:c.3955+1G>A
  • NM_001407737.1:c.3955+1G>A
  • NM_001407738.1:c.3955+1G>A
  • NM_001407739.1:c.3955+1G>A
  • NM_001407740.1:c.3952+1G>A
  • NM_001407741.1:c.3952+1G>A
  • NM_001407742.1:c.3952+1G>A
  • NM_001407743.1:c.3952+1G>A
  • NM_001407744.1:c.3952+1G>A
  • NM_001407745.1:c.3952+1G>A
  • NM_001407746.1:c.3952+1G>A
  • NM_001407747.1:c.3952+1G>A
  • NM_001407748.1:c.3952+1G>A
  • NM_001407749.1:c.3952+1G>A
  • NM_001407750.1:c.3955+1G>A
  • NM_001407751.1:c.3955+1G>A
  • NM_001407752.1:c.3955+1G>A
  • NM_001407838.1:c.3952+1G>A
  • NM_001407839.1:c.3952+1G>A
  • NM_001407841.1:c.3952+1G>A
  • NM_001407842.1:c.3952+1G>A
  • NM_001407843.1:c.3952+1G>A
  • NM_001407844.1:c.3952+1G>A
  • NM_001407845.1:c.3952+1G>A
  • NM_001407846.1:c.3952+1G>A
  • NM_001407847.1:c.3952+1G>A
  • NM_001407848.1:c.3952+1G>A
  • NM_001407849.1:c.3952+1G>A
  • NM_001407850.1:c.3955+1G>A
  • NM_001407851.1:c.3955+1G>A
  • NM_001407852.1:c.3955+1G>A
  • NM_001407853.1:c.3883+1G>A
  • NM_001407854.1:c.4096+1G>A
  • NM_001407858.1:c.4096+1G>A
  • NM_001407859.1:c.4096+1G>A
  • NM_001407860.1:c.4093+1G>A
  • NM_001407861.1:c.4093+1G>A
  • NM_001407862.1:c.3895+1G>A
  • NM_001407863.1:c.3973+1G>A
  • NM_001407874.1:c.3892+1G>A
  • NM_001407875.1:c.3892+1G>A
  • NM_001407879.1:c.3886+1G>A
  • NM_001407881.1:c.3886+1G>A
  • NM_001407882.1:c.3886+1G>A
  • NM_001407884.1:c.3886+1G>A
  • NM_001407885.1:c.3886+1G>A
  • NM_001407886.1:c.3886+1G>A
  • NM_001407887.1:c.3886+1G>A
  • NM_001407889.1:c.3886+1G>A
  • NM_001407894.1:c.3883+1G>A
  • NM_001407895.1:c.3883+1G>A
  • NM_001407896.1:c.3883+1G>A
  • NM_001407897.1:c.3883+1G>A
  • NM_001407898.1:c.3883+1G>A
  • NM_001407899.1:c.3883+1G>A
  • NM_001407900.1:c.3886+1G>A
  • NM_001407902.1:c.3886+1G>A
  • NM_001407904.1:c.3886+1G>A
  • NM_001407906.1:c.3886+1G>A
  • NM_001407907.1:c.3886+1G>A
  • NM_001407908.1:c.3886+1G>A
  • NM_001407909.1:c.3886+1G>A
  • NM_001407910.1:c.3886+1G>A
  • NM_001407915.1:c.3883+1G>A
  • NM_001407916.1:c.3883+1G>A
  • NM_001407917.1:c.3883+1G>A
  • NM_001407918.1:c.3883+1G>A
  • NM_001407919.1:c.3973+1G>A
  • NM_001407920.1:c.3832+1G>A
  • NM_001407921.1:c.3832+1G>A
  • NM_001407922.1:c.3832+1G>A
  • NM_001407923.1:c.3832+1G>A
  • NM_001407924.1:c.3832+1G>A
  • NM_001407925.1:c.3832+1G>A
  • NM_001407926.1:c.3832+1G>A
  • NM_001407927.1:c.3832+1G>A
  • NM_001407928.1:c.3832+1G>A
  • NM_001407929.1:c.3832+1G>A
  • NM_001407930.1:c.3829+1G>A
  • NM_001407931.1:c.3829+1G>A
  • NM_001407932.1:c.3829+1G>A
  • NM_001407933.1:c.3832+1G>A
  • NM_001407934.1:c.3829+1G>A
  • NM_001407935.1:c.3832+1G>A
  • NM_001407936.1:c.3829+1G>A
  • NM_001407937.1:c.3973+1G>A
  • NM_001407938.1:c.3973+1G>A
  • NM_001407939.1:c.3973+1G>A
  • NM_001407940.1:c.3970+1G>A
  • NM_001407941.1:c.3970+1G>A
  • NM_001407942.1:c.3955+1G>A
  • NM_001407943.1:c.3952+1G>A
  • NM_001407944.1:c.3955+1G>A
  • NM_001407945.1:c.3955+1G>A
  • NM_001407946.1:c.3763+1G>A
  • NM_001407947.1:c.3763+1G>A
  • NM_001407948.1:c.3763+1G>A
  • NM_001407949.1:c.3763+1G>A
  • NM_001407950.1:c.3763+1G>A
  • NM_001407951.1:c.3763+1G>A
  • NM_001407952.1:c.3763+1G>A
  • NM_001407953.1:c.3763+1G>A
  • NM_001407954.1:c.3760+1G>A
  • NM_001407955.1:c.3760+1G>A
  • NM_001407956.1:c.3760+1G>A
  • NM_001407957.1:c.3763+1G>A
  • NM_001407958.1:c.3760+1G>A
  • NM_001407959.1:c.3715+1G>A
  • NM_001407960.1:c.3715+1G>A
  • NM_001407962.1:c.3712+1G>A
  • NM_001407963.1:c.3715+1G>A
  • NM_001407964.1:c.3952+1G>A
  • NM_001407965.1:c.3592+1G>A
  • NM_001407966.1:c.3208+1G>A
  • NM_001407967.1:c.3208+1G>A
  • NM_001407968.1:c.1492+1G>A
  • NM_001407969.1:c.1492+1G>A
  • NM_001407970.1:c.788-402G>A
  • NM_001407971.1:c.788-402G>A
  • NM_001407972.1:c.785-402G>A
  • NM_001407973.1:c.788-402G>A
  • NM_001407974.1:c.788-402G>A
  • NM_001407975.1:c.788-402G>A
  • NM_001407976.1:c.788-402G>A
  • NM_001407977.1:c.788-402G>A
  • NM_001407978.1:c.788-402G>A
  • NM_001407979.1:c.788-402G>A
  • NM_001407980.1:c.788-402G>A
  • NM_001407981.1:c.788-402G>A
  • NM_001407982.1:c.788-402G>A
  • NM_001407983.1:c.788-402G>A
  • NM_001407984.1:c.785-402G>A
  • NM_001407985.1:c.785-402G>A
  • NM_001407986.1:c.785-402G>A
  • NM_001407990.1:c.788-402G>A
  • NM_001407991.1:c.785-402G>A
  • NM_001407992.1:c.785-402G>A
  • NM_001407993.1:c.788-402G>A
  • NM_001408392.1:c.785-402G>A
  • NM_001408396.1:c.785-402G>A
  • NM_001408397.1:c.785-402G>A
  • NM_001408398.1:c.785-402G>A
  • NM_001408399.1:c.785-402G>A
  • NM_001408400.1:c.785-402G>A
  • NM_001408401.1:c.785-402G>A
  • NM_001408402.1:c.785-402G>A
  • NM_001408403.1:c.788-402G>A
  • NM_001408404.1:c.788-402G>A
  • NM_001408406.1:c.791-411G>A
  • NM_001408407.1:c.785-402G>A
  • NM_001408408.1:c.779-402G>A
  • NM_001408409.1:c.710-402G>A
  • NM_001408410.1:c.647-402G>A
  • NM_001408411.1:c.710-402G>A
  • NM_001408412.1:c.710-402G>A
  • NM_001408413.1:c.707-402G>A
  • NM_001408414.1:c.710-402G>A
  • NM_001408415.1:c.710-402G>A
  • NM_001408416.1:c.707-402G>A
  • NM_001408418.1:c.671-402G>A
  • NM_001408419.1:c.671-402G>A
  • NM_001408420.1:c.671-402G>A
  • NM_001408421.1:c.668-402G>A
  • NM_001408422.1:c.671-402G>A
  • NM_001408423.1:c.671-402G>A
  • NM_001408424.1:c.668-402G>A
  • NM_001408425.1:c.665-402G>A
  • NM_001408426.1:c.665-402G>A
  • NM_001408427.1:c.665-402G>A
  • NM_001408428.1:c.665-402G>A
  • NM_001408429.1:c.665-402G>A
  • NM_001408430.1:c.665-402G>A
  • NM_001408431.1:c.668-402G>A
  • NM_001408432.1:c.662-402G>A
  • NM_001408433.1:c.662-402G>A
  • NM_001408434.1:c.662-402G>A
  • NM_001408435.1:c.662-402G>A
  • NM_001408436.1:c.665-402G>A
  • NM_001408437.1:c.665-402G>A
  • NM_001408438.1:c.665-402G>A
  • NM_001408439.1:c.665-402G>A
  • NM_001408440.1:c.665-402G>A
  • NM_001408441.1:c.665-402G>A
  • NM_001408442.1:c.665-402G>A
  • NM_001408443.1:c.665-402G>A
  • NM_001408444.1:c.665-402G>A
  • NM_001408445.1:c.662-402G>A
  • NM_001408446.1:c.662-402G>A
  • NM_001408447.1:c.662-402G>A
  • NM_001408448.1:c.662-402G>A
  • NM_001408450.1:c.662-402G>A
  • NM_001408451.1:c.653-402G>A
  • NM_001408452.1:c.647-402G>A
  • NM_001408453.1:c.647-402G>A
  • NM_001408454.1:c.647-402G>A
  • NM_001408455.1:c.647-402G>A
  • NM_001408456.1:c.647-402G>A
  • NM_001408457.1:c.647-402G>A
  • NM_001408458.1:c.647-402G>A
  • NM_001408459.1:c.647-402G>A
  • NM_001408460.1:c.647-402G>A
  • NM_001408461.1:c.647-402G>A
  • NM_001408462.1:c.644-402G>A
  • NM_001408463.1:c.644-402G>A
  • NM_001408464.1:c.644-402G>A
  • NM_001408465.1:c.644-402G>A
  • NM_001408466.1:c.647-402G>A
  • NM_001408467.1:c.647-402G>A
  • NM_001408468.1:c.644-402G>A
  • NM_001408469.1:c.647-402G>A
  • NM_001408470.1:c.644-402G>A
  • NM_001408472.1:c.788-402G>A
  • NM_001408473.1:c.785-402G>A
  • NM_001408474.1:c.587-402G>A
  • NM_001408475.1:c.584-402G>A
  • NM_001408476.1:c.587-402G>A
  • NM_001408478.1:c.578-402G>A
  • NM_001408479.1:c.578-402G>A
  • NM_001408480.1:c.578-402G>A
  • NM_001408481.1:c.578-402G>A
  • NM_001408482.1:c.578-402G>A
  • NM_001408483.1:c.578-402G>A
  • NM_001408484.1:c.578-402G>A
  • NM_001408485.1:c.578-402G>A
  • NM_001408489.1:c.578-402G>A
  • NM_001408490.1:c.575-402G>A
  • NM_001408491.1:c.575-402G>A
  • NM_001408492.1:c.578-402G>A
  • NM_001408493.1:c.575-402G>A
  • NM_001408494.1:c.548-402G>A
  • NM_001408495.1:c.545-402G>A
  • NM_001408496.1:c.524-402G>A
  • NM_001408497.1:c.524-402G>A
  • NM_001408498.1:c.524-402G>A
  • NM_001408499.1:c.524-402G>A
  • NM_001408500.1:c.524-402G>A
  • NM_001408501.1:c.524-402G>A
  • NM_001408502.1:c.455-402G>A
  • NM_001408503.1:c.521-402G>A
  • NM_001408504.1:c.521-402G>A
  • NM_001408505.1:c.521-402G>A
  • NM_001408506.1:c.461-402G>A
  • NM_001408507.1:c.461-402G>A
  • NM_001408508.1:c.452-402G>A
  • NM_001408509.1:c.452-402G>A
  • NM_001408510.1:c.407-402G>A
  • NM_001408511.1:c.404-402G>A
  • NM_001408512.1:c.284-402G>A
  • NM_001408513.1:c.578-402G>A
  • NM_001408514.1:c.578-402G>A
  • NM_007294.4:c.4096+1G>AMANE SELECT
  • NM_007297.4:c.3955+1G>A
  • NM_007298.4:c.788-402G>A
  • NM_007299.4:c.788-402G>A
  • NM_007300.4:c.4096+1G>A
  • LRG_292t1:c.4096+1G>A
  • LRG_292:g.126550G>A
  • NC_000017.10:g.41243451C>T
  • NM_007294.3:c.4096+1G>A
  • U14680.1:n.4215+1G>A
Nucleotide change:
IVS11+1G>A
Links:
Breast Cancer Information Core (BIC) (BRCA1): 4215+1&base_change=G to A; dbSNP: rs80358178
NCBI 1000 Genomes Browser:
rs80358178
Molecular consequence:
  • NM_001407970.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-411G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-402G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407581.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407582.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407583.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407585.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407587.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407590.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407591.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407593.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407594.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407596.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407597.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407598.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407602.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407603.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407605.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407610.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407611.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407612.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407613.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407614.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407615.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407616.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407617.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407618.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407619.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407620.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407621.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407622.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407623.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407624.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407625.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407626.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407627.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407628.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407629.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407630.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407631.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407632.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407633.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407634.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407635.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407636.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407637.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407638.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407639.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407640.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407641.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407642.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407644.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407645.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407646.1:c.4087+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407647.1:c.4087+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407648.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407649.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407652.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407653.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407654.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407655.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407656.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407657.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407658.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407659.1:c.4015+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407660.1:c.4015+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407661.1:c.4015+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407662.1:c.4015+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407663.1:c.4018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407664.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407665.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407666.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407667.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407668.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407669.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407670.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407671.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407672.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407673.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407674.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407675.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407676.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407677.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407678.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407679.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407680.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407681.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407682.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407683.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407684.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407685.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407686.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407687.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407688.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407689.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407690.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407691.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407692.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407694.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407695.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407696.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407697.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407698.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407724.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407725.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407726.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407727.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407728.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407729.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407730.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407731.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407732.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407733.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407734.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407735.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407736.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407737.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407738.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407739.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407740.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407741.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407742.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407743.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407744.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407745.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407746.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407747.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407748.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407749.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407750.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407751.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407752.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407838.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407839.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407841.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407842.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407843.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407844.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407845.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407846.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407847.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407848.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407849.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407850.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407851.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407852.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407853.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407854.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407858.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407859.1:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407860.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407861.1:c.4093+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407862.1:c.3895+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407863.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407874.1:c.3892+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407875.1:c.3892+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407879.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407881.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407882.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407884.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407885.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407886.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407887.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407889.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407894.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407895.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407896.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407897.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407898.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407899.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407900.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407902.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407904.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407906.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407907.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407908.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407909.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407910.1:c.3886+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407915.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407916.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407917.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407918.1:c.3883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407919.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407920.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407921.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407922.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407923.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407924.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407925.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407926.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407927.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407928.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407929.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407930.1:c.3829+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407931.1:c.3829+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407932.1:c.3829+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407933.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407934.1:c.3829+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407935.1:c.3832+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407936.1:c.3829+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407937.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407938.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407939.1:c.3973+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407940.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407941.1:c.3970+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407942.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407943.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407944.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407945.1:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407946.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407947.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407948.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407949.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407950.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407951.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407952.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407953.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407954.1:c.3760+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407955.1:c.3760+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407956.1:c.3760+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407957.1:c.3763+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407958.1:c.3760+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407959.1:c.3715+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407960.1:c.3715+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407962.1:c.3712+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407963.1:c.3715+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407964.1:c.3952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407965.1:c.3592+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407966.1:c.3208+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407967.1:c.3208+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407968.1:c.1492+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407969.1:c.1492+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.3955+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.4096+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
15

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000053746Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Pathogenic
(Feb 13, 2012)
germlineclinical testing

SCV000144971Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Pathogenic
(May 29, 2002)
germlineclinical testing

SCV000325845Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)
Pathogenic
(Oct 2, 2015)
germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf,

Citation Link,

SCV000783125Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))
Uncertain significance
(Apr 12, 2018)
germlinecuration

Citation Link,

SCV000786121Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))
Pathogenic
(Feb 28, 2018)
unknownclinical testing

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

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV001140538Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link,

SCV004228357Department of Medical and Surgical Sciences, University of Bologna
no assertion criteria provided
Uncertain significance
(Sep 1, 2023)
germlineclinical testing

SCV004244007BRCAlab, Lund University
no assertion criteria provided
Uncertain significance
(Mar 2, 2020)
germlineclinical testing

SCV005058262Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jan 30, 2024)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided15not providednot providednot providedclinical testing, curation
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided5not providednot provided5not providedclinical testing
Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing
Near Easterngermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

RNA-based analysis of BRCA1 and BRCA2 gene alterations.

Bonatti F, Pepe C, Tancredi M, Lombardi G, Aretini P, Sensi E, Falaschi E, Cipollini G, Bevilacqua G, Caligo MA.

Cancer Genet Cytogenet. 2006 Oct 15;170(2):93-101.

PubMed [citation]
PMID:
17011978

Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients.

Spugnesi L, Gabriele M, Scarpitta R, Tancredi M, Maresca L, Gambino G, Collavoli A, Aretini P, Bertolini I, Salvadori B, Landucci E, Fontana A, Rossetti E, Roncella M, Naccarato GA, Caligo MA.

Genes Chromosomes Cancer. 2016 Dec;55(12):915-924. doi: 10.1002/gcc.22389. Epub 2016 Jul 26.

PubMed [citation]
PMID:
27328445
See all PubMed Citations (4)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053746.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided5not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144971.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
3Central/Eastern European1not providednot providedclinical testingnot provided
4Near Eastern1not providednot providedclinical testingnot provided
5Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided
3germlineyesnot providednot providednot provided1not providednot providednot provided
4germlineyesnot providednot providednot provided1not providednot providednot provided
5germlineyesnot providednot providednot provided1not providednot providednot provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325845.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided15not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA, SCV000783125.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Clinical data collected by the ENIGMA consortium demonstrates that the BRCA1 c.4096+1G>A variant may not exhibit the clinical characteristics of a standard high-risk pathogenic BRCA1 variant (Spurdle, unpublished data). This splice site variant has been proven to result in production of naturally occurring in-frame transcripts delta11q (Bonatti et al., 2006 - PMID: 17011978) and delta11 (Radice, unpublished data). Since no clinically relevant domain has been described in BRCA1 exon 11 (ENIGMA rules), the splicing alteration is compatible with the clinical data, and supports Class-3 classification.

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

From Counsyl, SCV000786121.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001140538.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Department of Medical and Surgical Sciences, University of Bologna, SCV004228357.1

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

Description

PVS1_RNA(Moderate)+BP5(Moderate) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

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

From BRCAlab, Lund University, SCV004244007.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV005058262.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024