NM_007294.4(BRCA1):c.301+6T>C AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 22, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000234331.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.301+6T>C]

NM_007294.4(BRCA1):c.301+6T>C

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.301+6T>C

HGVS:

NC_000017.11:g.43104862A>G
NG_005905.2:g.113122T>C
NM_001407571.1:c.91+6T>C
NM_001407581.1:c.301+6T>C
NM_001407582.1:c.301+6T>C
NM_001407583.1:c.301+6T>C
NM_001407585.1:c.301+6T>C
NM_001407587.1:c.301+6T>C
NM_001407590.1:c.301+6T>C
NM_001407591.1:c.301+6T>C
NM_001407593.1:c.301+6T>C
NM_001407594.1:c.301+6T>C
NM_001407596.1:c.301+6T>C
NM_001407597.1:c.301+6T>C
NM_001407598.1:c.301+6T>C
NM_001407602.1:c.301+6T>C
NM_001407603.1:c.301+6T>C
NM_001407605.1:c.301+6T>C
NM_001407610.1:c.301+6T>C
NM_001407611.1:c.301+6T>C
NM_001407612.1:c.301+6T>C
NM_001407613.1:c.301+6T>C
NM_001407614.1:c.301+6T>C
NM_001407615.1:c.301+6T>C
NM_001407616.1:c.301+6T>C
NM_001407617.1:c.301+6T>C
NM_001407618.1:c.301+6T>C
NM_001407619.1:c.301+6T>C
NM_001407620.1:c.301+6T>C
NM_001407621.1:c.301+6T>C
NM_001407622.1:c.301+6T>C
NM_001407623.1:c.301+6T>C
NM_001407624.1:c.301+6T>C
NM_001407625.1:c.301+6T>C
NM_001407626.1:c.301+6T>C
NM_001407627.1:c.301+6T>C
NM_001407628.1:c.301+6T>C
NM_001407629.1:c.301+6T>C
NM_001407630.1:c.301+6T>C
NM_001407631.1:c.301+6T>C
NM_001407632.1:c.301+6T>C
NM_001407633.1:c.301+6T>C
NM_001407634.1:c.301+6T>C
NM_001407635.1:c.301+6T>C
NM_001407636.1:c.301+6T>C
NM_001407637.1:c.301+6T>C
NM_001407638.1:c.301+6T>C
NM_001407639.1:c.301+6T>C
NM_001407640.1:c.301+6T>C
NM_001407641.1:c.301+6T>C
NM_001407642.1:c.301+6T>C
NM_001407644.1:c.301+6T>C
NM_001407645.1:c.301+6T>C
NM_001407646.1:c.292+15T>C
NM_001407647.1:c.292+15T>C
NM_001407648.1:c.301+6T>C
NM_001407649.1:c.301+6T>C
NM_001407652.1:c.301+6T>C
NM_001407653.1:c.223+6T>C
NM_001407654.1:c.223+6T>C
NM_001407655.1:c.223+6T>C
NM_001407656.1:c.223+6T>C
NM_001407657.1:c.223+6T>C
NM_001407658.1:c.223+6T>C
NM_001407659.1:c.223+6T>C
NM_001407660.1:c.223+6T>C
NM_001407661.1:c.223+6T>C
NM_001407662.1:c.223+6T>C
NM_001407663.1:c.223+6T>C
NM_001407664.1:c.301+6T>C
NM_001407665.1:c.301+6T>C
NM_001407666.1:c.301+6T>C
NM_001407667.1:c.301+6T>C
NM_001407668.1:c.301+6T>C
NM_001407669.1:c.301+6T>C
NM_001407670.1:c.301+6T>C
NM_001407671.1:c.301+6T>C
NM_001407672.1:c.301+6T>C
NM_001407673.1:c.301+6T>C
NM_001407674.1:c.301+6T>C
NM_001407675.1:c.301+6T>C
NM_001407676.1:c.301+6T>C
NM_001407677.1:c.301+6T>C
NM_001407678.1:c.301+6T>C
NM_001407679.1:c.301+6T>C
NM_001407680.1:c.301+6T>C
NM_001407681.1:c.301+6T>C
NM_001407682.1:c.301+6T>C
NM_001407683.1:c.301+6T>C
NM_001407684.1:c.301+6T>C
NM_001407685.1:c.301+6T>C
NM_001407686.1:c.301+6T>C
NM_001407687.1:c.301+6T>C
NM_001407688.1:c.301+6T>C
NM_001407689.1:c.301+6T>C
NM_001407690.1:c.301+6T>C
NM_001407691.1:c.301+6T>C
NM_001407692.1:c.160+6T>C
NM_001407694.1:c.160+6T>C
NM_001407695.1:c.160+6T>C
NM_001407696.1:c.160+6T>C
NM_001407697.1:c.160+6T>C
NM_001407698.1:c.160+6T>C
NM_001407724.1:c.160+6T>C
NM_001407725.1:c.160+6T>C
NM_001407726.1:c.160+6T>C
NM_001407727.1:c.160+6T>C
NM_001407728.1:c.160+6T>C
NM_001407729.1:c.160+6T>C
NM_001407730.1:c.160+6T>C
NM_001407731.1:c.160+6T>C
NM_001407732.1:c.160+6T>C
NM_001407733.1:c.160+6T>C
NM_001407734.1:c.160+6T>C
NM_001407735.1:c.160+6T>C
NM_001407736.1:c.160+6T>C
NM_001407737.1:c.160+6T>C
NM_001407738.1:c.160+6T>C
NM_001407739.1:c.160+6T>C
NM_001407740.1:c.160+6T>C
NM_001407741.1:c.160+6T>C
NM_001407742.1:c.160+6T>C
NM_001407743.1:c.160+6T>C
NM_001407744.1:c.160+6T>C
NM_001407745.1:c.160+6T>C
NM_001407746.1:c.160+6T>C
NM_001407747.1:c.160+6T>C
NM_001407748.1:c.160+6T>C
NM_001407749.1:c.160+6T>C
NM_001407750.1:c.160+6T>C
NM_001407751.1:c.160+6T>C
NM_001407752.1:c.160+6T>C
NM_001407838.1:c.160+6T>C
NM_001407839.1:c.160+6T>C
NM_001407841.1:c.160+6T>C
NM_001407842.1:c.160+6T>C
NM_001407843.1:c.160+6T>C
NM_001407844.1:c.160+6T>C
NM_001407845.1:c.160+6T>C
NM_001407846.1:c.160+6T>C
NM_001407847.1:c.160+6T>C
NM_001407848.1:c.160+6T>C
NM_001407849.1:c.160+6T>C
NM_001407850.1:c.160+6T>C
NM_001407851.1:c.160+6T>C
NM_001407852.1:c.160+6T>C
NM_001407853.1:c.91+6T>C
NM_001407854.1:c.301+6T>C
NM_001407858.1:c.301+6T>C
NM_001407859.1:c.301+6T>C
NM_001407860.1:c.301+6T>C
NM_001407861.1:c.301+6T>C
NM_001407862.1:c.223+6T>C
NM_001407863.1:c.301+6T>C
NM_001407874.1:c.223+6T>C
NM_001407875.1:c.223+6T>C
NM_001407879.1:c.91+6T>C
NM_001407881.1:c.91+6T>C
NM_001407882.1:c.91+6T>C
NM_001407884.1:c.91+6T>C
NM_001407885.1:c.91+6T>C
NM_001407886.1:c.91+6T>C
NM_001407887.1:c.91+6T>C
NM_001407889.1:c.91+6T>C
NM_001407894.1:c.91+6T>C
NM_001407895.1:c.91+6T>C
NM_001407896.1:c.91+6T>C
NM_001407897.1:c.91+6T>C
NM_001407898.1:c.91+6T>C
NM_001407899.1:c.91+6T>C
NM_001407900.1:c.91+6T>C
NM_001407902.1:c.91+6T>C
NM_001407904.1:c.91+6T>C
NM_001407906.1:c.91+6T>C
NM_001407907.1:c.91+6T>C
NM_001407908.1:c.91+6T>C
NM_001407909.1:c.91+6T>C
NM_001407910.1:c.91+6T>C
NM_001407915.1:c.91+6T>C
NM_001407916.1:c.91+6T>C
NM_001407917.1:c.91+6T>C
NM_001407918.1:c.91+6T>C
NM_001407919.1:c.301+6T>C
NM_001407920.1:c.160+6T>C
NM_001407921.1:c.160+6T>C
NM_001407922.1:c.160+6T>C
NM_001407923.1:c.160+6T>C
NM_001407924.1:c.160+6T>C
NM_001407925.1:c.160+6T>C
NM_001407926.1:c.160+6T>C
NM_001407927.1:c.160+6T>C
NM_001407928.1:c.160+6T>C
NM_001407929.1:c.160+6T>C
NM_001407930.1:c.160+6T>C
NM_001407931.1:c.160+6T>C
NM_001407932.1:c.160+6T>C
NM_001407933.1:c.160+6T>C
NM_001407934.1:c.160+6T>C
NM_001407935.1:c.160+6T>C
NM_001407936.1:c.160+6T>C
NM_001407937.1:c.301+6T>C
NM_001407938.1:c.301+6T>C
NM_001407939.1:c.301+6T>C
NM_001407940.1:c.301+6T>C
NM_001407941.1:c.301+6T>C
NM_001407942.1:c.160+6T>C
NM_001407943.1:c.160+6T>C
NM_001407944.1:c.160+6T>C
NM_001407945.1:c.160+6T>C
NM_001407946.1:c.91+6T>C
NM_001407947.1:c.91+6T>C
NM_001407948.1:c.91+6T>C
NM_001407949.1:c.91+6T>C
NM_001407950.1:c.91+6T>C
NM_001407951.1:c.91+6T>C
NM_001407952.1:c.91+6T>C
NM_001407953.1:c.91+6T>C
NM_001407954.1:c.91+6T>C
NM_001407955.1:c.91+6T>C
NM_001407956.1:c.91+6T>C
NM_001407957.1:c.91+6T>C
NM_001407958.1:c.91+6T>C
NM_001407959.1:c.-81+6T>C
NM_001407960.1:c.-81+6T>C
NM_001407962.1:c.-81+6T>C
NM_001407963.1:c.-81+6T>C
NM_001407964.1:c.160+6T>C
NM_001407965.1:c.-81+6T>C
NM_001407966.1:c.-218-10002T>C
NM_001407967.1:c.-218-10002T>C
NM_001407968.1:c.301+6T>C
NM_001407969.1:c.301+6T>C
NM_001407970.1:c.301+6T>C
NM_001407971.1:c.301+6T>C
NM_001407972.1:c.301+6T>C
NM_001407973.1:c.301+6T>C
NM_001407974.1:c.301+6T>C
NM_001407975.1:c.301+6T>C
NM_001407976.1:c.301+6T>C
NM_001407977.1:c.301+6T>C
NM_001407978.1:c.301+6T>C
NM_001407979.1:c.301+6T>C
NM_001407980.1:c.301+6T>C
NM_001407981.1:c.301+6T>C
NM_001407982.1:c.301+6T>C
NM_001407983.1:c.301+6T>C
NM_001407984.1:c.301+6T>C
NM_001407985.1:c.301+6T>C
NM_001407986.1:c.301+6T>C
NM_001407990.1:c.301+6T>C
NM_001407991.1:c.301+6T>C
NM_001407992.1:c.301+6T>C
NM_001407993.1:c.301+6T>C
NM_001408392.1:c.301+6T>C
NM_001408396.1:c.301+6T>C
NM_001408397.1:c.301+6T>C
NM_001408398.1:c.301+6T>C
NM_001408399.1:c.301+6T>C
NM_001408400.1:c.301+6T>C
NM_001408401.1:c.301+6T>C
NM_001408402.1:c.301+6T>C
NM_001408403.1:c.301+6T>C
NM_001408404.1:c.301+6T>C
NM_001408406.1:c.301+6T>C
NM_001408407.1:c.301+6T>C
NM_001408408.1:c.292+15T>C
NM_001408409.1:c.223+6T>C
NM_001408410.1:c.160+6T>C
NM_001408411.1:c.223+6T>C
NM_001408412.1:c.223+6T>C
NM_001408413.1:c.223+6T>C
NM_001408414.1:c.223+6T>C
NM_001408415.1:c.223+6T>C
NM_001408416.1:c.223+6T>C
NM_001408418.1:c.301+6T>C
NM_001408419.1:c.301+6T>C
NM_001408420.1:c.301+6T>C
NM_001408421.1:c.301+6T>C
NM_001408422.1:c.301+6T>C
NM_001408423.1:c.301+6T>C
NM_001408424.1:c.301+6T>C
NM_001408425.1:c.301+6T>C
NM_001408426.1:c.301+6T>C
NM_001408427.1:c.301+6T>C
NM_001408428.1:c.301+6T>C
NM_001408429.1:c.301+6T>C
NM_001408430.1:c.301+6T>C
NM_001408431.1:c.301+6T>C
NM_001408432.1:c.301+6T>C
NM_001408433.1:c.301+6T>C
NM_001408434.1:c.301+6T>C
NM_001408435.1:c.301+6T>C
NM_001408436.1:c.301+6T>C
NM_001408437.1:c.301+6T>C
NM_001408438.1:c.301+6T>C
NM_001408439.1:c.301+6T>C
NM_001408440.1:c.301+6T>C
NM_001408441.1:c.301+6T>C
NM_001408442.1:c.301+6T>C
NM_001408443.1:c.301+6T>C
NM_001408444.1:c.301+6T>C
NM_001408445.1:c.301+6T>C
NM_001408446.1:c.301+6T>C
NM_001408447.1:c.301+6T>C
NM_001408448.1:c.301+6T>C
NM_001408450.1:c.301+6T>C
NM_001408451.1:c.169+6T>C
NM_001408452.1:c.160+6T>C
NM_001408453.1:c.160+6T>C
NM_001408454.1:c.160+6T>C
NM_001408455.1:c.160+6T>C
NM_001408456.1:c.160+6T>C
NM_001408457.1:c.160+6T>C
NM_001408458.1:c.160+6T>C
NM_001408459.1:c.160+6T>C
NM_001408460.1:c.160+6T>C
NM_001408461.1:c.160+6T>C
NM_001408462.1:c.160+6T>C
NM_001408463.1:c.160+6T>C
NM_001408464.1:c.160+6T>C
NM_001408465.1:c.160+6T>C
NM_001408466.1:c.160+6T>C
NM_001408467.1:c.160+6T>C
NM_001408468.1:c.160+6T>C
NM_001408469.1:c.160+6T>C
NM_001408470.1:c.160+6T>C
NM_001408472.1:c.301+6T>C
NM_001408473.1:c.301+6T>C
NM_001408474.1:c.223+6T>C
NM_001408475.1:c.223+6T>C
NM_001408476.1:c.223+6T>C
NM_001408478.1:c.91+6T>C
NM_001408479.1:c.91+6T>C
NM_001408480.1:c.91+6T>C
NM_001408481.1:c.91+6T>C
NM_001408482.1:c.91+6T>C
NM_001408483.1:c.91+6T>C
NM_001408484.1:c.91+6T>C
NM_001408485.1:c.91+6T>C
NM_001408489.1:c.91+6T>C
NM_001408490.1:c.91+6T>C
NM_001408491.1:c.91+6T>C
NM_001408492.1:c.91+6T>C
NM_001408493.1:c.91+6T>C
NM_001408494.1:c.301+6T>C
NM_001408495.1:c.301+6T>C
NM_001408496.1:c.160+6T>C
NM_001408497.1:c.160+6T>C
NM_001408498.1:c.160+6T>C
NM_001408499.1:c.160+6T>C
NM_001408500.1:c.160+6T>C
NM_001408501.1:c.160+6T>C
NM_001408502.1:c.91+6T>C
NM_001408503.1:c.160+6T>C
NM_001408504.1:c.160+6T>C
NM_001408505.1:c.160+6T>C
NM_001408506.1:c.91+6T>C
NM_001408507.1:c.91+6T>C
NM_001408508.1:c.91+6T>C
NM_001408509.1:c.91+6T>C
NM_001408510.1:c.-81+6T>C
NM_001408511.1:c.160+6T>C
NM_001408512.1:c.-81+6T>C
NM_001408513.1:c.91+6T>C
NM_001408514.1:c.91+6T>C
NM_007294.4:c.301+6T>CMANE SELECT
NM_007297.4:c.160+6T>C
NM_007298.4:c.301+6T>C
NM_007299.4:c.301+6T>C
NM_007300.4:c.301+6T>C
LRG_292t1:c.301+6T>C
LRG_292:g.113122T>C
NC_000017.10:g.41256879A>G
NM_007294.3:c.301+6T>C

Links:

dbSNP: rs753859240

NCBI 1000 Genomes Browser:

rs753859240

Molecular consequence:

NM_001407571.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.292+15T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.292+15T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.-81+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.-81+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.-81+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.-81+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.-81+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-218-10002T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-218-10002T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.292+15T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.169+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.223+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.-81+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.-81+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.91+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.160+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.301+6T>C - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000289768	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 22, 2023)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 26845104, 34178674, 17576681, 9536098, 21769658, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000289768

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 22, 2023)

germline

clinical testing

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

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

Citations

PubMed

Improving performance of multigene panels for genomic analysis of cancer predisposition.

Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC.

Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4.

PubMed [citation]

PMID:: 26845104

Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome.

Fanale D, Fiorino A, Incorvaia L, Dimino A, Filorizzo C, Bono M, Cancelliere D, Calò V, Brando C, Corsini LR, Sciacchitano R, Magrin L, Pivetti A, Pedone E, Madonia G, Cucinella A, Badalamenti G, Russo A, Bazan V.

Front Oncol. 2021;11:682445. doi: 10.3389/fonc.2021.682445. Erratum in: Front Oncol. 2022 May 04;12:920342. doi: 10.3389/fonc.2022.920342.

PubMed [citation]

PMID:: 34178674
PMCID:: PMC8226162

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000289768.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This sequence change falls in intron 5 of the BRCA1 gene. It does not directly change the encoded amino acid sequence of the BRCA1 protein. RNA analysis indicates that this variant induces altered splicing and likely results in the loss of 3 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. This variant is present in population databases (rs753859240, gnomAD 0.002%). This variant has been observed in individual(s) with breast cancer and ovarian cancer (PMID: 21769658, 26845104, 34178674). ClinVar contains an entry for this variant (Variation ID: 224562). Based on a multifactorial likelihood algorithm using genetic, in silico, and/or statistical data, this variant has been determined to have a low probability of being pathogenic (PMID: 21769658). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in the activation of a cryptic splice site in exon 5 (PMID: 21769658; Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Nov 30, 2024

ClinVar

Relating variation to medicine