NM_007294.4(BRCA1):c.4096+15T>C AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 24, 2020
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- 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:
- RCV001174825.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.4096+15T>C]
NM_007294.4(BRCA1):c.4096+15T>C
- 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+15T>C
- HGVS:
- NC_000017.11:g.43091420A>G
- NG_005905.2:g.126564T>C
- NG_087068.1:g.402A>G
- NM_001407571.1:c.3883+15T>C
- NM_001407581.1:c.4096+15T>C
- NM_001407582.1:c.4096+15T>C
- NM_001407583.1:c.4096+15T>C
- NM_001407585.1:c.4096+15T>C
- NM_001407587.1:c.4093+15T>C
- NM_001407590.1:c.4093+15T>C
- NM_001407591.1:c.4093+15T>C
- NM_001407593.1:c.4096+15T>C
- NM_001407594.1:c.4096+15T>C
- NM_001407596.1:c.4096+15T>C
- NM_001407597.1:c.4096+15T>C
- NM_001407598.1:c.4096+15T>C
- NM_001407602.1:c.4096+15T>C
- NM_001407603.1:c.4096+15T>C
- NM_001407605.1:c.4096+15T>C
- NM_001407610.1:c.4093+15T>C
- NM_001407611.1:c.4093+15T>C
- NM_001407612.1:c.4093+15T>C
- NM_001407613.1:c.4093+15T>C
- NM_001407614.1:c.4093+15T>C
- NM_001407615.1:c.4093+15T>C
- NM_001407616.1:c.4096+15T>C
- NM_001407617.1:c.4096+15T>C
- NM_001407618.1:c.4096+15T>C
- NM_001407619.1:c.4096+15T>C
- NM_001407620.1:c.4096+15T>C
- NM_001407621.1:c.4096+15T>C
- NM_001407622.1:c.4096+15T>C
- NM_001407623.1:c.4096+15T>C
- NM_001407624.1:c.4096+15T>C
- NM_001407625.1:c.4096+15T>C
- NM_001407626.1:c.4096+15T>C
- NM_001407627.1:c.4093+15T>C
- NM_001407628.1:c.4093+15T>C
- NM_001407629.1:c.4093+15T>C
- NM_001407630.1:c.4093+15T>C
- NM_001407631.1:c.4093+15T>C
- NM_001407632.1:c.4093+15T>C
- NM_001407633.1:c.4093+15T>C
- NM_001407634.1:c.4093+15T>C
- NM_001407635.1:c.4093+15T>C
- NM_001407636.1:c.4093+15T>C
- NM_001407637.1:c.4093+15T>C
- NM_001407638.1:c.4093+15T>C
- NM_001407639.1:c.4096+15T>C
- NM_001407640.1:c.4096+15T>C
- NM_001407641.1:c.4096+15T>C
- NM_001407642.1:c.4096+15T>C
- NM_001407644.1:c.4093+15T>C
- NM_001407645.1:c.4093+15T>C
- NM_001407646.1:c.4087+15T>C
- NM_001407647.1:c.4087+15T>C
- NM_001407648.1:c.3973+15T>C
- NM_001407649.1:c.3970+15T>C
- NM_001407652.1:c.4096+15T>C
- NM_001407653.1:c.4018+15T>C
- NM_001407654.1:c.4018+15T>C
- NM_001407655.1:c.4018+15T>C
- NM_001407656.1:c.4018+15T>C
- NM_001407657.1:c.4018+15T>C
- NM_001407658.1:c.4018+15T>C
- NM_001407659.1:c.4015+15T>C
- NM_001407660.1:c.4015+15T>C
- NM_001407661.1:c.4015+15T>C
- NM_001407662.1:c.4015+15T>C
- NM_001407663.1:c.4018+15T>C
- NM_001407664.1:c.3973+15T>C
- NM_001407665.1:c.3973+15T>C
- NM_001407666.1:c.3973+15T>C
- NM_001407667.1:c.3973+15T>C
- NM_001407668.1:c.3973+15T>C
- NM_001407669.1:c.3973+15T>C
- NM_001407670.1:c.3970+15T>C
- NM_001407671.1:c.3970+15T>C
- NM_001407672.1:c.3970+15T>C
- NM_001407673.1:c.3970+15T>C
- NM_001407674.1:c.3973+15T>C
- NM_001407675.1:c.3973+15T>C
- NM_001407676.1:c.3973+15T>C
- NM_001407677.1:c.3973+15T>C
- NM_001407678.1:c.3973+15T>C
- NM_001407679.1:c.3973+15T>C
- NM_001407680.1:c.3973+15T>C
- NM_001407681.1:c.3973+15T>C
- NM_001407682.1:c.3973+15T>C
- NM_001407683.1:c.3973+15T>C
- NM_001407684.1:c.4096+15T>C
- NM_001407685.1:c.3970+15T>C
- NM_001407686.1:c.3970+15T>C
- NM_001407687.1:c.3970+15T>C
- NM_001407688.1:c.3970+15T>C
- NM_001407689.1:c.3970+15T>C
- NM_001407690.1:c.3970+15T>C
- NM_001407691.1:c.3970+15T>C
- NM_001407692.1:c.3955+15T>C
- NM_001407694.1:c.3955+15T>C
- NM_001407695.1:c.3955+15T>C
- NM_001407696.1:c.3955+15T>C
- NM_001407697.1:c.3955+15T>C
- NM_001407698.1:c.3955+15T>C
- NM_001407724.1:c.3955+15T>C
- NM_001407725.1:c.3955+15T>C
- NM_001407726.1:c.3955+15T>C
- NM_001407727.1:c.3955+15T>C
- NM_001407728.1:c.3955+15T>C
- NM_001407729.1:c.3955+15T>C
- NM_001407730.1:c.3955+15T>C
- NM_001407731.1:c.3955+15T>C
- NM_001407732.1:c.3955+15T>C
- NM_001407733.1:c.3955+15T>C
- NM_001407734.1:c.3955+15T>C
- NM_001407735.1:c.3955+15T>C
- NM_001407736.1:c.3955+15T>C
- NM_001407737.1:c.3955+15T>C
- NM_001407738.1:c.3955+15T>C
- NM_001407739.1:c.3955+15T>C
- NM_001407740.1:c.3952+15T>C
- NM_001407741.1:c.3952+15T>C
- NM_001407742.1:c.3952+15T>C
- NM_001407743.1:c.3952+15T>C
- NM_001407744.1:c.3952+15T>C
- NM_001407745.1:c.3952+15T>C
- NM_001407746.1:c.3952+15T>C
- NM_001407747.1:c.3952+15T>C
- NM_001407748.1:c.3952+15T>C
- NM_001407749.1:c.3952+15T>C
- NM_001407750.1:c.3955+15T>C
- NM_001407751.1:c.3955+15T>C
- NM_001407752.1:c.3955+15T>C
- NM_001407838.1:c.3952+15T>C
- NM_001407839.1:c.3952+15T>C
- NM_001407841.1:c.3952+15T>C
- NM_001407842.1:c.3952+15T>C
- NM_001407843.1:c.3952+15T>C
- NM_001407844.1:c.3952+15T>C
- NM_001407845.1:c.3952+15T>C
- NM_001407846.1:c.3952+15T>C
- NM_001407847.1:c.3952+15T>C
- NM_001407848.1:c.3952+15T>C
- NM_001407849.1:c.3952+15T>C
- NM_001407850.1:c.3955+15T>C
- NM_001407851.1:c.3955+15T>C
- NM_001407852.1:c.3955+15T>C
- NM_001407853.1:c.3883+15T>C
- NM_001407854.1:c.4096+15T>C
- NM_001407858.1:c.4096+15T>C
- NM_001407859.1:c.4096+15T>C
- NM_001407860.1:c.4093+15T>C
- NM_001407861.1:c.4093+15T>C
- NM_001407862.1:c.3895+15T>C
- NM_001407863.1:c.3973+15T>C
- NM_001407874.1:c.3892+15T>C
- NM_001407875.1:c.3892+15T>C
- NM_001407879.1:c.3886+15T>C
- NM_001407881.1:c.3886+15T>C
- NM_001407882.1:c.3886+15T>C
- NM_001407884.1:c.3886+15T>C
- NM_001407885.1:c.3886+15T>C
- NM_001407886.1:c.3886+15T>C
- NM_001407887.1:c.3886+15T>C
- NM_001407889.1:c.3886+15T>C
- NM_001407894.1:c.3883+15T>C
- NM_001407895.1:c.3883+15T>C
- NM_001407896.1:c.3883+15T>C
- NM_001407897.1:c.3883+15T>C
- NM_001407898.1:c.3883+15T>C
- NM_001407899.1:c.3883+15T>C
- NM_001407900.1:c.3886+15T>C
- NM_001407902.1:c.3886+15T>C
- NM_001407904.1:c.3886+15T>C
- NM_001407906.1:c.3886+15T>C
- NM_001407907.1:c.3886+15T>C
- NM_001407908.1:c.3886+15T>C
- NM_001407909.1:c.3886+15T>C
- NM_001407910.1:c.3886+15T>C
- NM_001407915.1:c.3883+15T>C
- NM_001407916.1:c.3883+15T>C
- NM_001407917.1:c.3883+15T>C
- NM_001407918.1:c.3883+15T>C
- NM_001407919.1:c.3973+15T>C
- NM_001407920.1:c.3832+15T>C
- NM_001407921.1:c.3832+15T>C
- NM_001407922.1:c.3832+15T>C
- NM_001407923.1:c.3832+15T>C
- NM_001407924.1:c.3832+15T>C
- NM_001407925.1:c.3832+15T>C
- NM_001407926.1:c.3832+15T>C
- NM_001407927.1:c.3832+15T>C
- NM_001407928.1:c.3832+15T>C
- NM_001407929.1:c.3832+15T>C
- NM_001407930.1:c.3829+15T>C
- NM_001407931.1:c.3829+15T>C
- NM_001407932.1:c.3829+15T>C
- NM_001407933.1:c.3832+15T>C
- NM_001407934.1:c.3829+15T>C
- NM_001407935.1:c.3832+15T>C
- NM_001407936.1:c.3829+15T>C
- NM_001407937.1:c.3973+15T>C
- NM_001407938.1:c.3973+15T>C
- NM_001407939.1:c.3973+15T>C
- NM_001407940.1:c.3970+15T>C
- NM_001407941.1:c.3970+15T>C
- NM_001407942.1:c.3955+15T>C
- NM_001407943.1:c.3952+15T>C
- NM_001407944.1:c.3955+15T>C
- NM_001407945.1:c.3955+15T>C
- NM_001407946.1:c.3763+15T>C
- NM_001407947.1:c.3763+15T>C
- NM_001407948.1:c.3763+15T>C
- NM_001407949.1:c.3763+15T>C
- NM_001407950.1:c.3763+15T>C
- NM_001407951.1:c.3763+15T>C
- NM_001407952.1:c.3763+15T>C
- NM_001407953.1:c.3763+15T>C
- NM_001407954.1:c.3760+15T>C
- NM_001407955.1:c.3760+15T>C
- NM_001407956.1:c.3760+15T>C
- NM_001407957.1:c.3763+15T>C
- NM_001407958.1:c.3760+15T>C
- NM_001407959.1:c.3715+15T>C
- NM_001407960.1:c.3715+15T>C
- NM_001407962.1:c.3712+15T>C
- NM_001407963.1:c.3715+15T>C
- NM_001407964.1:c.3952+15T>C
- NM_001407965.1:c.3592+15T>C
- NM_001407966.1:c.3208+15T>C
- NM_001407967.1:c.3208+15T>C
- NM_001407968.1:c.1492+15T>C
- NM_001407969.1:c.1492+15T>C
- NM_001407970.1:c.788-388T>C
- NM_001407971.1:c.788-388T>C
- NM_001407972.1:c.785-388T>C
- NM_001407973.1:c.788-388T>C
- NM_001407974.1:c.788-388T>C
- NM_001407975.1:c.788-388T>C
- NM_001407976.1:c.788-388T>C
- NM_001407977.1:c.788-388T>C
- NM_001407978.1:c.788-388T>C
- NM_001407979.1:c.788-388T>C
- NM_001407980.1:c.788-388T>C
- NM_001407981.1:c.788-388T>C
- NM_001407982.1:c.788-388T>C
- NM_001407983.1:c.788-388T>C
- NM_001407984.1:c.785-388T>C
- NM_001407985.1:c.785-388T>C
- NM_001407986.1:c.785-388T>C
- NM_001407990.1:c.788-388T>C
- NM_001407991.1:c.785-388T>C
- NM_001407992.1:c.785-388T>C
- NM_001407993.1:c.788-388T>C
- NM_001408392.1:c.785-388T>C
- NM_001408396.1:c.785-388T>C
- NM_001408397.1:c.785-388T>C
- NM_001408398.1:c.785-388T>C
- NM_001408399.1:c.785-388T>C
- NM_001408400.1:c.785-388T>C
- NM_001408401.1:c.785-388T>C
- NM_001408402.1:c.785-388T>C
- NM_001408403.1:c.788-388T>C
- NM_001408404.1:c.788-388T>C
- NM_001408406.1:c.791-397T>C
- NM_001408407.1:c.785-388T>C
- NM_001408408.1:c.779-388T>C
- NM_001408409.1:c.710-388T>C
- NM_001408410.1:c.647-388T>C
- NM_001408411.1:c.710-388T>C
- NM_001408412.1:c.710-388T>C
- NM_001408413.1:c.707-388T>C
- NM_001408414.1:c.710-388T>C
- NM_001408415.1:c.710-388T>C
- NM_001408416.1:c.707-388T>C
- NM_001408418.1:c.671-388T>C
- NM_001408419.1:c.671-388T>C
- NM_001408420.1:c.671-388T>C
- NM_001408421.1:c.668-388T>C
- NM_001408422.1:c.671-388T>C
- NM_001408423.1:c.671-388T>C
- NM_001408424.1:c.668-388T>C
- NM_001408425.1:c.665-388T>C
- NM_001408426.1:c.665-388T>C
- NM_001408427.1:c.665-388T>C
- NM_001408428.1:c.665-388T>C
- NM_001408429.1:c.665-388T>C
- NM_001408430.1:c.665-388T>C
- NM_001408431.1:c.668-388T>C
- NM_001408432.1:c.662-388T>C
- NM_001408433.1:c.662-388T>C
- NM_001408434.1:c.662-388T>C
- NM_001408435.1:c.662-388T>C
- NM_001408436.1:c.665-388T>C
- NM_001408437.1:c.665-388T>C
- NM_001408438.1:c.665-388T>C
- NM_001408439.1:c.665-388T>C
- NM_001408440.1:c.665-388T>C
- NM_001408441.1:c.665-388T>C
- NM_001408442.1:c.665-388T>C
- NM_001408443.1:c.665-388T>C
- NM_001408444.1:c.665-388T>C
- NM_001408445.1:c.662-388T>C
- NM_001408446.1:c.662-388T>C
- NM_001408447.1:c.662-388T>C
- NM_001408448.1:c.662-388T>C
- NM_001408450.1:c.662-388T>C
- NM_001408451.1:c.653-388T>C
- NM_001408452.1:c.647-388T>C
- NM_001408453.1:c.647-388T>C
- NM_001408454.1:c.647-388T>C
- NM_001408455.1:c.647-388T>C
- NM_001408456.1:c.647-388T>C
- NM_001408457.1:c.647-388T>C
- NM_001408458.1:c.647-388T>C
- NM_001408459.1:c.647-388T>C
- NM_001408460.1:c.647-388T>C
- NM_001408461.1:c.647-388T>C
- NM_001408462.1:c.644-388T>C
- NM_001408463.1:c.644-388T>C
- NM_001408464.1:c.644-388T>C
- NM_001408465.1:c.644-388T>C
- NM_001408466.1:c.647-388T>C
- NM_001408467.1:c.647-388T>C
- NM_001408468.1:c.644-388T>C
- NM_001408469.1:c.647-388T>C
- NM_001408470.1:c.644-388T>C
- NM_001408472.1:c.788-388T>C
- NM_001408473.1:c.785-388T>C
- NM_001408474.1:c.587-388T>C
- NM_001408475.1:c.584-388T>C
- NM_001408476.1:c.587-388T>C
- NM_001408478.1:c.578-388T>C
- NM_001408479.1:c.578-388T>C
- NM_001408480.1:c.578-388T>C
- NM_001408481.1:c.578-388T>C
- NM_001408482.1:c.578-388T>C
- NM_001408483.1:c.578-388T>C
- NM_001408484.1:c.578-388T>C
- NM_001408485.1:c.578-388T>C
- NM_001408489.1:c.578-388T>C
- NM_001408490.1:c.575-388T>C
- NM_001408491.1:c.575-388T>C
- NM_001408492.1:c.578-388T>C
- NM_001408493.1:c.575-388T>C
- NM_001408494.1:c.548-388T>C
- NM_001408495.1:c.545-388T>C
- NM_001408496.1:c.524-388T>C
- NM_001408497.1:c.524-388T>C
- NM_001408498.1:c.524-388T>C
- NM_001408499.1:c.524-388T>C
- NM_001408500.1:c.524-388T>C
- NM_001408501.1:c.524-388T>C
- NM_001408502.1:c.455-388T>C
- NM_001408503.1:c.521-388T>C
- NM_001408504.1:c.521-388T>C
- NM_001408505.1:c.521-388T>C
- NM_001408506.1:c.461-388T>C
- NM_001408507.1:c.461-388T>C
- NM_001408508.1:c.452-388T>C
- NM_001408509.1:c.452-388T>C
- NM_001408510.1:c.407-388T>C
- NM_001408511.1:c.404-388T>C
- NM_001408512.1:c.284-388T>C
- NM_001408513.1:c.578-388T>C
- NM_001408514.1:c.578-388T>C
- NM_007294.4:c.4096+15T>CMANE SELECT
- NM_007297.4:c.3955+15T>C
- NM_007298.4:c.788-388T>C
- NM_007299.4:c.788-388T>C
- NM_007300.4:c.4096+15T>C
- LRG_292t1:c.4096+15T>C
- LRG_292:g.126564T>C
- NC_000017.10:g.41243437A>G
- NM_007294.3:c.4096+15T>C
This HGVS expression did not pass validation- Links:
- dbSNP: rs1567788912
- NCBI 1000 Genomes Browser:
- rs1567788912
- Molecular consequence:
- NM_001407571.1:c.3883+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407582.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407583.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407585.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407587.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407590.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407591.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407593.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407594.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407596.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407597.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407598.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407602.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407603.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407605.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407610.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407611.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407612.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407613.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407614.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407615.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407616.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407617.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407618.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407619.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407620.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407621.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407622.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407623.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407624.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407625.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407626.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407627.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407628.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407629.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407630.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407631.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407632.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407633.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407634.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407635.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407636.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407637.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407638.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407639.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407640.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407641.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407642.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407644.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407645.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407646.1:c.4087+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407647.1:c.4087+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407648.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407649.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407652.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407653.1:c.4018+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407654.1:c.4018+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407655.1:c.4018+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407656.1:c.4018+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407657.1:c.4018+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407658.1:c.4018+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407659.1:c.4015+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407660.1:c.4015+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407661.1:c.4015+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407662.1:c.4015+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407663.1:c.4018+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407664.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407665.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407666.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407667.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407668.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407669.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407670.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407671.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407672.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407673.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407674.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407675.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407676.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407677.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407678.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407679.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407680.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407681.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407682.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407683.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407684.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407685.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407686.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407687.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407688.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407689.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407690.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407691.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407692.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407694.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407695.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407696.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407697.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407698.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407724.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407725.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407726.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407727.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407728.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407729.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407730.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407731.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407732.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407733.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407734.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407735.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407736.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407737.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407738.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407739.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407740.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407741.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407742.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407743.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407744.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407745.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407746.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407747.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407748.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407749.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407750.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407751.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407752.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407838.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407839.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407841.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407842.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407843.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407844.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407845.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407846.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407847.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407848.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407849.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407850.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407851.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407852.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407853.1:c.3883+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407854.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407858.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407859.1:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407860.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407861.1:c.4093+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407862.1:c.3895+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407863.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407874.1:c.3892+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407875.1:c.3892+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407879.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407881.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407882.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407884.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407885.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407886.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407887.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407889.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407894.1:c.3883+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407895.1:c.3883+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407896.1:c.3883+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407897.1:c.3883+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407898.1:c.3883+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407899.1:c.3883+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407900.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407902.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407904.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407906.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407907.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407908.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407909.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407910.1:c.3886+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407915.1:c.3883+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407916.1:c.3883+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407917.1:c.3883+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407918.1:c.3883+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407919.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407920.1:c.3832+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407921.1:c.3832+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407922.1:c.3832+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407923.1:c.3832+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407924.1:c.3832+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407925.1:c.3832+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407926.1:c.3832+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407927.1:c.3832+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407928.1:c.3832+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407929.1:c.3832+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407930.1:c.3829+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407931.1:c.3829+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407932.1:c.3829+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407933.1:c.3832+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407934.1:c.3829+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407935.1:c.3832+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407936.1:c.3829+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407937.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407938.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407939.1:c.3973+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407940.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407941.1:c.3970+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407942.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407943.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407944.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407945.1:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407946.1:c.3763+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407947.1:c.3763+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407948.1:c.3763+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407949.1:c.3763+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407950.1:c.3763+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407951.1:c.3763+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407952.1:c.3763+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407953.1:c.3763+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407954.1:c.3760+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407955.1:c.3760+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407956.1:c.3760+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407957.1:c.3763+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407958.1:c.3760+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407959.1:c.3715+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407960.1:c.3715+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407962.1:c.3712+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407963.1:c.3715+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407964.1:c.3952+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407965.1:c.3592+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407966.1:c.3208+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407967.1:c.3208+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407968.1:c.1492+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.1492+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-397T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007294.4:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007297.4:c.3955+15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-388T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007300.4:c.4096+15T>C - intron variant - [Sequence Ontology: SO:0001627]
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001338190 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Likely benign (Feb 24, 2020) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Velasco E, Infante M, Durán M, Esteban-Cardeñosa E, Lastra E, García-Girón C, Miner C.
Electrophoresis. 2005 Jun;26(13):2539-52.
- PMID:
- 15937982
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001338190.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
Variant summary: BRCA1 c.4096+15T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 250808 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4096+15T>C in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. One report of its occurrence in a patient with breast cancer as part of a method validation study reported it as a "polymorphism" (Velasco_2005)(under an alternate legacy name c.4215+15T>C). Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
# | 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 |
Last Updated: Jul 15, 2024