NM_007294.4(BRCA1):c.4186-10G>A AND not provided

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Aug 3, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000589275.17

Allele description [Variation Report for NM_007294.4(BRCA1):c.4186-10G>A]

NM_007294.4(BRCA1):c.4186-10G>A

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4186-10G>A

HGVS:

NC_000017.11:g.43082585C>T
NG_005905.2:g.135399G>A
NM_001407571.1:c.3973-10G>A
NM_001407581.1:c.4186-10G>A
NM_001407582.1:c.4186-10G>A
NM_001407583.1:c.4186-10G>A
NM_001407585.1:c.4186-10G>A
NM_001407587.1:c.4183-10G>A
NM_001407590.1:c.4183-10G>A
NM_001407591.1:c.4183-10G>A
NM_001407593.1:c.4186-10G>A
NM_001407594.1:c.4186-10G>A
NM_001407596.1:c.4186-10G>A
NM_001407597.1:c.4186-10G>A
NM_001407598.1:c.4186-10G>A
NM_001407602.1:c.4186-10G>A
NM_001407603.1:c.4186-10G>A
NM_001407605.1:c.4186-10G>A
NM_001407610.1:c.4183-10G>A
NM_001407611.1:c.4183-10G>A
NM_001407612.1:c.4183-10G>A
NM_001407613.1:c.4183-10G>A
NM_001407614.1:c.4183-10G>A
NM_001407615.1:c.4183-10G>A
NM_001407616.1:c.4186-10G>A
NM_001407617.1:c.4186-10G>A
NM_001407618.1:c.4186-10G>A
NM_001407619.1:c.4186-10G>A
NM_001407620.1:c.4186-10G>A
NM_001407621.1:c.4186-10G>A
NM_001407622.1:c.4186-10G>A
NM_001407623.1:c.4186-10G>A
NM_001407624.1:c.4186-13G>A
NM_001407625.1:c.4186-13G>A
NM_001407626.1:c.4186-13G>A
NM_001407627.1:c.4183-13G>A
NM_001407628.1:c.4183-13G>A
NM_001407629.1:c.4183-13G>A
NM_001407630.1:c.4183-13G>A
NM_001407631.1:c.4183-13G>A
NM_001407632.1:c.4183-13G>A
NM_001407633.1:c.4183-10G>A
NM_001407634.1:c.4183-10G>A
NM_001407635.1:c.4183-10G>A
NM_001407636.1:c.4183-10G>A
NM_001407637.1:c.4183-10G>A
NM_001407638.1:c.4183-10G>A
NM_001407639.1:c.4186-13G>A
NM_001407640.1:c.4186-13G>A
NM_001407641.1:c.4186-13G>A
NM_001407642.1:c.4186-13G>A
NM_001407644.1:c.4183-13G>A
NM_001407645.1:c.4183-13G>A
NM_001407646.1:c.4177-13G>A
NM_001407647.1:c.4177-13G>A
NM_001407648.1:c.4063-10G>A
NM_001407649.1:c.4060-10G>A
NM_001407652.1:c.4186-10G>A
NM_001407653.1:c.4108-10G>A
NM_001407654.1:c.4108-10G>A
NM_001407655.1:c.4108-10G>A
NM_001407656.1:c.4108-13G>A
NM_001407657.1:c.4108-10G>A
NM_001407658.1:c.4108-10G>A
NM_001407659.1:c.4105-13G>A
NM_001407660.1:c.4105-13G>A
NM_001407661.1:c.4105-10G>A
NM_001407662.1:c.4105-10G>A
NM_001407663.1:c.4108-13G>A
NM_001407664.1:c.4063-10G>A
NM_001407665.1:c.4063-10G>A
NM_001407666.1:c.4063-10G>A
NM_001407667.1:c.4063-10G>A
NM_001407668.1:c.4063-10G>A
NM_001407669.1:c.4063-10G>A
NM_001407670.1:c.4060-10G>A
NM_001407671.1:c.4060-10G>A
NM_001407672.1:c.4060-10G>A
NM_001407673.1:c.4060-10G>A
NM_001407674.1:c.4063-13G>A
NM_001407675.1:c.4063-13G>A
NM_001407676.1:c.4063-13G>A
NM_001407677.1:c.4063-10G>A
NM_001407678.1:c.4063-10G>A
NM_001407679.1:c.4063-10G>A
NM_001407680.1:c.4063-10G>A
NM_001407681.1:c.4063-13G>A
NM_001407682.1:c.4063-13G>A
NM_001407683.1:c.4063-13G>A
NM_001407684.1:c.4186-10G>A
NM_001407685.1:c.4060-13G>A
NM_001407686.1:c.4060-13G>A
NM_001407687.1:c.4060-13G>A
NM_001407688.1:c.4060-10G>A
NM_001407689.1:c.4060-10G>A
NM_001407690.1:c.4060-13G>A
NM_001407691.1:c.4060-13G>A
NM_001407692.1:c.4045-10G>A
NM_001407694.1:c.4045-10G>A
NM_001407695.1:c.4045-10G>A
NM_001407696.1:c.4045-10G>A
NM_001407697.1:c.4045-10G>A
NM_001407698.1:c.4045-10G>A
NM_001407724.1:c.4045-10G>A
NM_001407725.1:c.4045-10G>A
NM_001407726.1:c.4045-10G>A
NM_001407727.1:c.4045-10G>A
NM_001407728.1:c.4045-10G>A
NM_001407729.1:c.4045-10G>A
NM_001407730.1:c.4045-10G>A
NM_001407731.1:c.4045-10G>A
NM_001407732.1:c.4045-10G>A
NM_001407733.1:c.4045-10G>A
NM_001407734.1:c.4045-10G>A
NM_001407735.1:c.4045-10G>A
NM_001407736.1:c.4045-10G>A
NM_001407737.1:c.4045-10G>A
NM_001407738.1:c.4045-10G>A
NM_001407739.1:c.4045-10G>A
NM_001407740.1:c.4042-10G>A
NM_001407741.1:c.4042-10G>A
NM_001407742.1:c.4042-10G>A
NM_001407743.1:c.4042-10G>A
NM_001407744.1:c.4042-10G>A
NM_001407745.1:c.4042-10G>A
NM_001407746.1:c.4042-10G>A
NM_001407747.1:c.4042-10G>A
NM_001407748.1:c.4042-10G>A
NM_001407749.1:c.4042-10G>A
NM_001407750.1:c.4045-13G>A
NM_001407751.1:c.4045-13G>A
NM_001407752.1:c.4045-13G>A
NM_001407838.1:c.4042-10G>A
NM_001407839.1:c.4042-10G>A
NM_001407841.1:c.4042-10G>A
NM_001407842.1:c.4042-10G>A
NM_001407843.1:c.4042-10G>A
NM_001407844.1:c.4042-10G>A
NM_001407845.1:c.4042-10G>A
NM_001407846.1:c.4042-10G>A
NM_001407847.1:c.4042-13G>A
NM_001407848.1:c.4042-13G>A
NM_001407849.1:c.4042-13G>A
NM_001407850.1:c.4045-13G>A
NM_001407851.1:c.4045-13G>A
NM_001407852.1:c.4045-13G>A
NM_001407853.1:c.3973-10G>A
NM_001407854.1:c.4186-10G>A
NM_001407858.1:c.4186-10G>A
NM_001407859.1:c.4186-10G>A
NM_001407860.1:c.4183-10G>A
NM_001407861.1:c.4183-10G>A
NM_001407862.1:c.3985-10G>A
NM_001407863.1:c.4063-10G>A
NM_001407874.1:c.3982-10G>A
NM_001407875.1:c.3982-10G>A
NM_001407879.1:c.3976-10G>A
NM_001407881.1:c.3976-10G>A
NM_001407882.1:c.3976-10G>A
NM_001407884.1:c.3976-10G>A
NM_001407885.1:c.3976-10G>A
NM_001407886.1:c.3976-10G>A
NM_001407887.1:c.3976-10G>A
NM_001407889.1:c.3976-10G>A
NM_001407894.1:c.3973-10G>A
NM_001407895.1:c.3973-10G>A
NM_001407896.1:c.3973-10G>A
NM_001407897.1:c.3973-10G>A
NM_001407898.1:c.3973-10G>A
NM_001407899.1:c.3973-10G>A
NM_001407900.1:c.3976-10G>A
NM_001407902.1:c.3976-10G>A
NM_001407904.1:c.3976-10G>A
NM_001407906.1:c.3976-10G>A
NM_001407907.1:c.3976-13G>A
NM_001407908.1:c.3976-13G>A
NM_001407909.1:c.3976-13G>A
NM_001407910.1:c.3976-13G>A
NM_001407915.1:c.3973-13G>A
NM_001407916.1:c.3973-10G>A
NM_001407917.1:c.3973-10G>A
NM_001407918.1:c.3973-10G>A
NM_001407919.1:c.4063-10G>A
NM_001407920.1:c.3922-10G>A
NM_001407921.1:c.3922-10G>A
NM_001407922.1:c.3922-10G>A
NM_001407923.1:c.3922-10G>A
NM_001407924.1:c.3922-10G>A
NM_001407925.1:c.3922-10G>A
NM_001407926.1:c.3922-10G>A
NM_001407927.1:c.3922-10G>A
NM_001407928.1:c.3922-10G>A
NM_001407929.1:c.3922-10G>A
NM_001407930.1:c.3919-10G>A
NM_001407931.1:c.3919-10G>A
NM_001407932.1:c.3919-10G>A
NM_001407933.1:c.3922-13G>A
NM_001407934.1:c.3919-13G>A
NM_001407935.1:c.3922-13G>A
NM_001407936.1:c.3919-10G>A
NM_001407937.1:c.4063-10G>A
NM_001407938.1:c.4063-10G>A
NM_001407939.1:c.4063-10G>A
NM_001407940.1:c.4060-10G>A
NM_001407941.1:c.4060-10G>A
NM_001407942.1:c.4045-10G>A
NM_001407943.1:c.4042-10G>A
NM_001407944.1:c.4045-10G>A
NM_001407945.1:c.4045-10G>A
NM_001407946.1:c.3853-10G>A
NM_001407947.1:c.3853-10G>A
NM_001407948.1:c.3853-10G>A
NM_001407949.1:c.3853-10G>A
NM_001407950.1:c.3853-10G>A
NM_001407951.1:c.3853-10G>A
NM_001407952.1:c.3853-13G>A
NM_001407953.1:c.3853-13G>A
NM_001407954.1:c.3850-10G>A
NM_001407955.1:c.3850-10G>A
NM_001407956.1:c.3850-13G>A
NM_001407957.1:c.3853-13G>A
NM_001407958.1:c.3850-10G>A
NM_001407959.1:c.3805-10G>A
NM_001407960.1:c.3805-10G>A
NM_001407962.1:c.3802-10G>A
NM_001407963.1:c.3805-13G>A
NM_001407964.1:c.4042-10G>A
NM_001407965.1:c.3682-13G>A
NM_001407966.1:c.3298-10G>A
NM_001407967.1:c.3298-10G>A
NM_001407968.1:c.1582-10G>A
NM_001407969.1:c.1582-13G>A
NM_001407970.1:c.877-10G>A
NM_001407971.1:c.877-10G>A
NM_001407972.1:c.874-10G>A
NM_001407973.1:c.877-10G>A
NM_001407974.1:c.877-10G>A
NM_001407975.1:c.877-10G>A
NM_001407976.1:c.877-10G>A
NM_001407977.1:c.877-10G>A
NM_001407978.1:c.877-10G>A
NM_001407979.1:c.877-13G>A
NM_001407980.1:c.877-13G>A
NM_001407981.1:c.877-13G>A
NM_001407982.1:c.877-13G>A
NM_001407983.1:c.877-13G>A
NM_001407984.1:c.874-10G>A
NM_001407985.1:c.874-10G>A
NM_001407986.1:c.874-10G>A
NM_001407990.1:c.877-13G>A
NM_001407991.1:c.874-10G>A
NM_001407992.1:c.874-10G>A
NM_001407993.1:c.877-10G>A
NM_001408392.1:c.874-10G>A
NM_001408396.1:c.874-10G>A
NM_001408397.1:c.874-10G>A
NM_001408398.1:c.874-10G>A
NM_001408399.1:c.874-10G>A
NM_001408400.1:c.874-13G>A
NM_001408401.1:c.874-13G>A
NM_001408402.1:c.874-13G>A
NM_001408403.1:c.877-13G>A
NM_001408404.1:c.877-13G>A
NM_001408406.1:c.871-13G>A
NM_001408407.1:c.874-13G>A
NM_001408408.1:c.868-10G>A
NM_001408409.1:c.799-10G>A
NM_001408410.1:c.736-10G>A
NM_001408411.1:c.799-10G>A
NM_001408412.1:c.799-10G>A
NM_001408413.1:c.796-10G>A
NM_001408414.1:c.799-10G>A
NM_001408415.1:c.799-10G>A
NM_001408416.1:c.796-10G>A
NM_001408418.1:c.760-10G>A
NM_001408419.1:c.760-10G>A
NM_001408420.1:c.760-10G>A
NM_001408421.1:c.757-10G>A
NM_001408422.1:c.760-10G>A
NM_001408423.1:c.760-10G>A
NM_001408424.1:c.757-10G>A
NM_001408425.1:c.754-10G>A
NM_001408426.1:c.754-10G>A
NM_001408427.1:c.754-10G>A
NM_001408428.1:c.754-10G>A
NM_001408429.1:c.754-10G>A
NM_001408430.1:c.754-10G>A
NM_001408431.1:c.757-10G>A
NM_001408432.1:c.751-10G>A
NM_001408433.1:c.751-10G>A
NM_001408434.1:c.751-10G>A
NM_001408435.1:c.751-10G>A
NM_001408436.1:c.754-10G>A
NM_001408437.1:c.754-10G>A
NM_001408438.1:c.754-10G>A
NM_001408439.1:c.754-10G>A
NM_001408440.1:c.754-10G>A
NM_001408441.1:c.754-13G>A
NM_001408442.1:c.754-13G>A
NM_001408443.1:c.754-13G>A
NM_001408444.1:c.754-13G>A
NM_001408445.1:c.751-10G>A
NM_001408446.1:c.751-10G>A
NM_001408447.1:c.751-10G>A
NM_001408448.1:c.751-10G>A
NM_001408450.1:c.751-10G>A
NM_001408451.1:c.742-10G>A
NM_001408452.1:c.736-10G>A
NM_001408453.1:c.736-10G>A
NM_001408454.1:c.736-10G>A
NM_001408455.1:c.736-10G>A
NM_001408456.1:c.736-10G>A
NM_001408457.1:c.736-10G>A
NM_001408458.1:c.736-10G>A
NM_001408459.1:c.736-10G>A
NM_001408460.1:c.736-10G>A
NM_001408461.1:c.736-10G>A
NM_001408462.1:c.733-10G>A
NM_001408463.1:c.733-10G>A
NM_001408464.1:c.733-10G>A
NM_001408465.1:c.733-10G>A
NM_001408466.1:c.736-13G>A
NM_001408467.1:c.736-13G>A
NM_001408468.1:c.733-10G>A
NM_001408469.1:c.736-13G>A
NM_001408470.1:c.733-13G>A
NM_001408472.1:c.877-13G>A
NM_001408473.1:c.874-10G>A
NM_001408474.1:c.676-10G>A
NM_001408475.1:c.673-10G>A
NM_001408476.1:c.676-10G>A
NM_001408478.1:c.667-10G>A
NM_001408479.1:c.667-10G>A
NM_001408480.1:c.667-10G>A
NM_001408481.1:c.667-10G>A
NM_001408482.1:c.667-10G>A
NM_001408483.1:c.667-10G>A
NM_001408484.1:c.667-10G>A
NM_001408485.1:c.667-10G>A
NM_001408489.1:c.667-13G>A
NM_001408490.1:c.664-10G>A
NM_001408491.1:c.664-10G>A
NM_001408492.1:c.667-13G>A
NM_001408493.1:c.664-10G>A
NM_001408494.1:c.637-10G>A
NM_001408495.1:c.634-10G>A
NM_001408496.1:c.613-10G>A
NM_001408497.1:c.613-10G>A
NM_001408498.1:c.613-10G>A
NM_001408499.1:c.613-10G>A
NM_001408500.1:c.613-10G>A
NM_001408501.1:c.613-10G>A
NM_001408502.1:c.544-10G>A
NM_001408503.1:c.610-10G>A
NM_001408504.1:c.610-10G>A
NM_001408505.1:c.610-10G>A
NM_001408506.1:c.550-10G>A
NM_001408507.1:c.550-13G>A
NM_001408508.1:c.541-13G>A
NM_001408509.1:c.541-13G>A
NM_001408510.1:c.496-10G>A
NM_001408511.1:c.493-10G>A
NM_001408512.1:c.373-10G>A
NM_001408513.1:c.667-13G>A
NM_001408514.1:c.667-10G>A
NM_007294.4:c.4186-10G>AMANE SELECT
NM_007297.4:c.4045-10G>A
NM_007298.4:c.877-10G>A
NM_007299.4:c.877-10G>A
NM_007300.4:c.4186-10G>A
LRG_292t1:c.4186-10G>A
LRG_292:g.135399G>A
NC_000017.10:g.41234602C>T
NM_007294.3:c.4186-10G>A
NM_007294.4:c.4186-10G>A
U14680.1:n.4305-10G>A

Nucleotide change:

IVS12-10G>A

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4305-10&base_change=G to A; dbSNP: rs80358172

NCBI 1000 Genomes Browser:

rs80358172

Molecular consequence:

NM_001407571.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.4177-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.4177-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.4108-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.4105-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.4105-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.4105-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.4105-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.4108-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.4042-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.4042-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.4042-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.3985-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.3982-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.3982-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.3976-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.3976-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.3976-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.3976-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.3973-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.3919-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.3919-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.3919-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.3922-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.3919-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.3922-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.3919-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.3853-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.3853-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.3850-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.3850-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.3850-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.3853-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.3850-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.3805-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.3805-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.3802-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.3805-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.3682-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.3298-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.3298-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.1582-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.1582-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.874-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.874-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.874-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.871-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.874-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.868-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.796-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.796-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.757-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.757-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.757-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.754-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.754-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.754-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.754-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.742-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.736-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.736-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.736-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.733-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.676-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.673-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.676-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.667-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.664-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.664-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.667-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.664-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.637-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.634-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.544-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.610-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.610-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.610-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.550-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.550-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.541-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.541-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.496-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.493-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.373-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.667-13G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210170	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 2, 2019)	germline	clinical testing	Citation Link,
SCV000699117	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Apr 22, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19656415, 18627636 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV001472093	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Likely benign (Aug 3, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000210170

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jul 2, 2019)

germline

clinical testing

Citation Link,

SCV000699117

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Benign
(Apr 22, 2016)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001472093

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Likely benign
(Aug 3, 2020)

germline

clinical testing

Citation Link

Help

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular genetics analysis of hereditary breast and ovarian cancer patients in India.

Soumittra N, Meenakumari B, Parija T, Sridevi V, Nancy KN, Swaminathan R, Rajalekshmy KR, Majhi U, Rajkumar T.

Hered Cancer Clin Pract. 2009 Aug 6;7(1):13. doi: 10.1186/1897-4287-7-13.

PubMed [citation]

PMID:: 19656415
PMCID:: PMC2731042

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, Selamat S, Yoon SY, Taib NA, Thong MK, Yip CH, Teo SH.

Breast Cancer Res. 2008;10(4):R59. doi: 10.1186/bcr2118. Epub 2008 Jul 16.

PubMed [citation]

PMID:: 18627636
PMCID:: PMC2575532

Details of each submission

From GeneDx, SCV000210170.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 18627636, 16267036, 25561518, 26269718, 28222693, 29280214)

#	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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699117.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Variant summary: The c.4186-10G>A in BRCA1 gene is an intronic change that involves a non-conserved nucleotide. 4/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC, mainly in individuals of East Asian descent at frequency of 0.17%, including one homozygous occurrence. The observed frequency exceeds the maximum expected allele frequency for a pathogenic BRCA1 variant, suggesting that it is a polymorphism. The fact that c.4186-10G>A has been reported to co-occur with two different deleterious mutation in BRCA1 gene (c.3700_3704delGTAAA and c.3759_3760delTA) suggests a non-disease causing nature of this variant. In addition, the variant has been reported as Polymorphismin published reports (Soumittra, 2009). Taken together, this variant has been classified as 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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001472093.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2024

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Relating variation to medicine