NM_007294.4(BRCA1):c.301+6T>C AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Conflicting interpretations of pathogenicity (6 submissions)
Last evaluated:: Apr 12, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000210142.10

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)

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000266156	University of Washington Department of Laboratory Medicine, University of Washington	criteria provided, single submitter (Shirts et al. (Genet Med 2016))	Uncertain significance (Nov 20, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001238610	Brotman Baty Institute, University of Washington	no classification provided	not provided	not applicable	in vitro	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV004215127	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 25, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004228313	Department of Medical and Surgical Sciences, University of Bologna	no assertion criteria provided	Benign (Sep 1, 2023)	germline	clinical testing
SCV005402395	St. Jude Molecular Pathology, St. Jude Children's Research Hospital	criteria provided, single submitter (St. Jude Assertion Criteria 2020)	Uncertain significance (Apr 7, 2024)	germline	clinical testing	Citation Link,
SCV005402496	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	criteria provided, single submitter (Dawood et al. (medRxiv. 2024))	Likely pathogenic (Apr 12, 2024)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 39142283, 34793697, 38645101

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, curation

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

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]

PMID:: 30209399
PMCID:: PMC6181777

See all PubMed Citations (6)

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV000266156.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

From Brotman Baty Institute, University of Washington, SCV001238610.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004215127.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Department of Medical and Surgical Sciences, University of Bologna, SCV004228313.1

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

Description

PM2(Supporting)+PP3(Supporting)+BS3(Strong)+BP5(Very Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV005402395.1

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

Description

The BRCA1 c.301+6T>C intronic change results in a T to C substitution at the +6 position of intron 5 of the BRCA1 gene. Algorithms that predict the impact of sequence changes on splicing indicate that this change may impact splicing. A published RNA study reports this variant is associated with very low levels of aberrant transcript (PMID: 21769658). This variant has a maximum subpopulation frequency of 0.002% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). This variant has been reported in individuals with breast and/or ovarian cancer (PMID: 21769658, 26845104). In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as 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

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV005402496.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (3)

Description

Each variant was annotated with functional scores from MAVE data which was translated into functional evidence codes. All other evidence codes and combining criteria were adhered to as closely as possible based on the ClinGen VCEP (Variant Curation Expert Panel) gene-specific recommendations. See Supplemental Figure 34 of final paper (Supp Fig. 28 in preprint: doi:10.1101/2024.04.11.24305690) for a table to see which lines of evidence we did not have data for. The ClinGen VCEPs are highly regarded as the gold-standard for gene-specific variant curation and are developed after extensive evaluation of the evidence by clinical and scientific experts for the particular gene to classify genomic variants on a spectrum from pathogenic to benign using the 2015 ACMG/AMP Variant Interpretation Guidelines as a backbone (PMID: 25741868). Reclassification of these VUS variants from gnomAD or All of Us focused only on variants originally prescribed as VUS in ClinVar. To ensure reproducibility, transparency, and increased throughput, all the procedures for annotating variants and assigning evidence codes were codified using Python. All code has been made freely available and is linked in the Code Availability section and all reclassified variants with evidence codes used can be found in Tables S18-19 (preprint: doi:10.1101/2024.04.11.24305690). For the MAVE data, the clinical curation and clinical strength assignment as per the ClinGen recommendations in Brnich et al. (2020) (PMID: 31892348) for or against pathogenicity or benignity of each of these MAVE datasets utilized in this study were previously published in Fayer et al. (2021) (PMID: 34793697).In brief, for BRCA1 variants, if a variant was categorized as FUNC (functional), it was assigned BS3 evidence and no PS3 evidence, whereas if it was categorized as LOF (loss of function), the variant was assigned PS3 evidence and no BS3 evidence. Variants categorized as INT (intermediate) were left unannotated. For the BRCA1 combining criteria, greater than or equal to 1 criteria of strong benign evidence was enough to reclassify the VUS as Likely Benign. This variant GRCh38:17:43104862:A>G was assigned evidence codes ['PS3', 'PP3', 'PM2_Supporting'] and an overall classification of Likely pathogenic

#	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