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 starsreviewed by expert panel
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno 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
This HGVS expression did not pass validation- 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)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000053746 | Sharing Clinical Reports Project (SCRP) | no assertion criteria provided | Pathogenic (Feb 13, 2012) | germline | clinical testing | |
SCV000144971 | Breast Cancer Information Core (BIC) (BRCA1) | no assertion criteria provided | Pathogenic (May 29, 2002) | germline | clinical testing | |
SCV000325845 | Consortium 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) | germline | clinical testing | CIMBA_Mutation_Classification_guidelines_May16.pdf, |
SCV000783125 | Evidence-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) | germline | curation | |
SCV000786121 | Counsyl | criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015)) | Pathogenic (Feb 28, 2018) | unknown | clinical testing | PubMed (3) Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf, |
SCV001140538 | Mendelics | criteria provided, single submitter (Mendelics Assertion Criteria 2017) | Uncertain significance (May 28, 2019) | unknown | clinical testing | |
SCV004228357 | Department of Medical and Surgical Sciences, University of Bologna | no assertion criteria provided | Uncertain significance (Sep 1, 2023) | germline | clinical testing | |
SCV004244007 | BRCAlab, Lund University | no assertion criteria provided | Uncertain significance (Mar 2, 2020) | germline | clinical testing | |
SCV005058262 | Baylor Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (Jan 30, 2024) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | 15 | not provided | not provided | not provided | clinical testing, curation |
not provided | germline | yes | 2 | not provided | not provided | not provided | not provided | clinical testing |
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | not provided | 5 | not provided | not provided | 5 | not provided | clinical testing |
Central/Eastern European | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Near Eastern | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Western European | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical 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.
- PMID:
- 17011978
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.
- PMID:
- 27328445
Details of each submission
From Sharing Clinical Reports Project (SCRP), SCV000053746.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | not provided | 5 | not provided | not provided | not provided | not provided | not provided | not provided |
From Breast Cancer Information Core (BIC) (BRCA1), SCV000144971.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | not provided |
2 | not provided | 1 | not provided | not provided | clinical testing | not provided |
3 | Central/Eastern European | 1 | not provided | not provided | clinical testing | not provided |
4 | Near Eastern | 1 | not provided | not provided | clinical testing | not provided |
5 | Western European | 1 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
2 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
3 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
4 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
5 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided |
From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325845.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | 15 | not provided |
From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA, SCV000783125.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | not 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.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Counsyl, SCV000786121.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Mendelics, SCV001140538.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Department of Medical and Surgical Sciences, University of Bologna, SCV004228357.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not 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)
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From BRCAlab, Lund University, SCV004244007.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Baylor Genetics, SCV005058262.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Nov 24, 2024