NM_007294.4(BRCA1):c.5194-12G>A AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Nov 17, 2023
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:: RCV000048851.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.5194-12G>A]

NM_007294.4(BRCA1):c.5194-12G>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.5194-12G>A

HGVS:

NC_000017.11:g.43057147C>T
NG_005905.2:g.160837G>A
NM_001407571.1:c.4981-12G>A
NM_001407581.1:c.5260-12G>A
NM_001407582.1:c.5260-12G>A
NM_001407583.1:c.5257-12G>A
NM_001407585.1:c.5257-12G>A
NM_001407587.1:c.5257-12G>A
NM_001407590.1:c.5254-12G>A
NM_001407591.1:c.5254-12G>A
NM_001407593.1:c.5194-12G>A
NM_001407594.1:c.5194-12G>A
NM_001407596.1:c.5194-12G>A
NM_001407597.1:c.5194-12G>A
NM_001407598.1:c.5194-12G>A
NM_001407602.1:c.5194-12G>A
NM_001407603.1:c.5194-12G>A
NM_001407605.1:c.5194-12G>A
NM_001407610.1:c.5191-12G>A
NM_001407611.1:c.5191-12G>A
NM_001407612.1:c.5191-12G>A
NM_001407613.1:c.5191-12G>A
NM_001407614.1:c.5191-12G>A
NM_001407615.1:c.5191-12G>A
NM_001407616.1:c.5191-12G>A
NM_001407617.1:c.5191-12G>A
NM_001407618.1:c.5191-12G>A
NM_001407619.1:c.5191-12G>A
NM_001407620.1:c.5191-12G>A
NM_001407621.1:c.5191-12G>A
NM_001407622.1:c.5191-12G>A
NM_001407623.1:c.5191-12G>A
NM_001407624.1:c.5191-12G>A
NM_001407625.1:c.5191-12G>A
NM_001407626.1:c.5191-12G>A
NM_001407627.1:c.5188-12G>A
NM_001407628.1:c.5188-12G>A
NM_001407629.1:c.5188-12G>A
NM_001407630.1:c.5188-12G>A
NM_001407631.1:c.5188-12G>A
NM_001407632.1:c.5188-12G>A
NM_001407633.1:c.5188-12G>A
NM_001407634.1:c.5188-12G>A
NM_001407635.1:c.5188-12G>A
NM_001407636.1:c.5188-12G>A
NM_001407637.1:c.5188-12G>A
NM_001407638.1:c.5188-12G>A
NM_001407639.1:c.5188-12G>A
NM_001407640.1:c.5188-12G>A
NM_001407641.1:c.5188-12G>A
NM_001407642.1:c.5188-12G>A
NM_001407644.1:c.5185-12G>A
NM_001407645.1:c.5185-12G>A
NM_001407646.1:c.5182-12G>A
NM_001407647.1:c.5179-12G>A
NM_001407648.1:c.5137-12G>A
NM_001407649.1:c.5134-12G>A
NM_001407652.1:c.5116-12G>A
NM_001407653.1:c.5116-12G>A
NM_001407654.1:c.5116-12G>A
NM_001407655.1:c.5116-12G>A
NM_001407656.1:c.5113-12G>A
NM_001407657.1:c.5113-12G>A
NM_001407658.1:c.5113-12G>A
NM_001407659.1:c.5110-12G>A
NM_001407660.1:c.5110-12G>A
NM_001407661.1:c.5110-12G>A
NM_001407662.1:c.5110-12G>A
NM_001407663.1:c.5110-12G>A
NM_001407664.1:c.5071-12G>A
NM_001407665.1:c.5071-12G>A
NM_001407666.1:c.5071-12G>A
NM_001407667.1:c.5071-12G>A
NM_001407668.1:c.5071-12G>A
NM_001407669.1:c.5071-12G>A
NM_001407670.1:c.5068-12G>A
NM_001407671.1:c.5068-12G>A
NM_001407672.1:c.5068-12G>A
NM_001407673.1:c.5068-12G>A
NM_001407674.1:c.5068-12G>A
NM_001407675.1:c.5068-12G>A
NM_001407676.1:c.5068-12G>A
NM_001407677.1:c.5068-12G>A
NM_001407678.1:c.5068-12G>A
NM_001407679.1:c.5068-12G>A
NM_001407680.1:c.5068-12G>A
NM_001407681.1:c.5065-12G>A
NM_001407682.1:c.5065-12G>A
NM_001407683.1:c.5065-12G>A
NM_001407684.1:c.5194-12G>A
NM_001407685.1:c.5065-12G>A
NM_001407686.1:c.5065-12G>A
NM_001407687.1:c.5065-12G>A
NM_001407688.1:c.5065-12G>A
NM_001407689.1:c.5065-12G>A
NM_001407690.1:c.5062-12G>A
NM_001407691.1:c.5062-12G>A
NM_001407692.1:c.5053-12G>A
NM_001407694.1:c.5053-12G>A
NM_001407695.1:c.5053-12G>A
NM_001407696.1:c.5053-12G>A
NM_001407697.1:c.5053-12G>A
NM_001407698.1:c.5053-12G>A
NM_001407724.1:c.5053-12G>A
NM_001407725.1:c.5053-12G>A
NM_001407726.1:c.5053-12G>A
NM_001407727.1:c.5053-12G>A
NM_001407728.1:c.5053-12G>A
NM_001407729.1:c.5053-12G>A
NM_001407730.1:c.5053-12G>A
NM_001407731.1:c.5053-12G>A
NM_001407732.1:c.5050-12G>A
NM_001407733.1:c.5050-12G>A
NM_001407734.1:c.5050-12G>A
NM_001407735.1:c.5050-12G>A
NM_001407736.1:c.5050-12G>A
NM_001407737.1:c.5050-12G>A
NM_001407738.1:c.5050-12G>A
NM_001407739.1:c.5050-12G>A
NM_001407740.1:c.5050-12G>A
NM_001407741.1:c.5050-12G>A
NM_001407742.1:c.5050-12G>A
NM_001407743.1:c.5050-12G>A
NM_001407744.1:c.5050-12G>A
NM_001407745.1:c.5050-12G>A
NM_001407746.1:c.5050-12G>A
NM_001407747.1:c.5050-12G>A
NM_001407748.1:c.5050-12G>A
NM_001407749.1:c.5050-12G>A
NM_001407750.1:c.5050-12G>A
NM_001407751.1:c.5050-12G>A
NM_001407752.1:c.5050-12G>A
NM_001407838.1:c.5047-12G>A
NM_001407839.1:c.5047-12G>A
NM_001407841.1:c.5047-12G>A
NM_001407842.1:c.5047-12G>A
NM_001407843.1:c.5047-12G>A
NM_001407844.1:c.5047-12G>A
NM_001407845.1:c.5047-12G>A
NM_001407846.1:c.5047-12G>A
NM_001407847.1:c.5047-12G>A
NM_001407848.1:c.5047-12G>A
NM_001407849.1:c.5047-12G>A
NM_001407850.1:c.5047-12G>A
NM_001407851.1:c.5047-12G>A
NM_001407852.1:c.5047-12G>A
NM_001407853.1:c.5047-12G>A
NM_001407854.1:c.5194-12G>A
NM_001407858.1:c.5191-12G>A
NM_001407859.1:c.5191-12G>A
NM_001407860.1:c.5191-12G>A
NM_001407861.1:c.5188-12G>A
NM_001407862.1:c.4993-12G>A
NM_001407863.1:c.4990-12G>A
NM_001407874.1:c.4987-12G>A
NM_001407875.1:c.4987-12G>A
NM_001407879.1:c.4984-12G>A
NM_001407881.1:c.4984-12G>A
NM_001407882.1:c.4984-12G>A
NM_001407884.1:c.4984-12G>A
NM_001407885.1:c.4984-12G>A
NM_001407886.1:c.4984-12G>A
NM_001407887.1:c.4984-12G>A
NM_001407889.1:c.4984-12G>A
NM_001407894.1:c.4981-12G>A
NM_001407895.1:c.4981-12G>A
NM_001407896.1:c.4981-12G>A
NM_001407897.1:c.4981-12G>A
NM_001407898.1:c.4981-12G>A
NM_001407899.1:c.4981-12G>A
NM_001407900.1:c.4981-12G>A
NM_001407902.1:c.4981-12G>A
NM_001407904.1:c.4981-12G>A
NM_001407906.1:c.4981-12G>A
NM_001407907.1:c.4981-12G>A
NM_001407908.1:c.4981-12G>A
NM_001407909.1:c.4981-12G>A
NM_001407910.1:c.4981-12G>A
NM_001407915.1:c.4978-12G>A
NM_001407916.1:c.4978-12G>A
NM_001407917.1:c.4978-12G>A
NM_001407918.1:c.4978-12G>A
NM_001407919.1:c.5071-12G>A
NM_001407920.1:c.4930-12G>A
NM_001407921.1:c.4930-12G>A
NM_001407922.1:c.4930-12G>A
NM_001407923.1:c.4930-12G>A
NM_001407924.1:c.4930-12G>A
NM_001407925.1:c.4930-12G>A
NM_001407926.1:c.4930-12G>A
NM_001407927.1:c.4927-12G>A
NM_001407928.1:c.4927-12G>A
NM_001407929.1:c.4927-12G>A
NM_001407930.1:c.4927-12G>A
NM_001407931.1:c.4927-12G>A
NM_001407932.1:c.4927-12G>A
NM_001407933.1:c.4927-12G>A
NM_001407934.1:c.4924-12G>A
NM_001407935.1:c.4924-12G>A
NM_001407936.1:c.4924-12G>A
NM_001407937.1:c.5071-12G>A
NM_001407938.1:c.5071-12G>A
NM_001407939.1:c.5068-12G>A
NM_001407940.1:c.5068-12G>A
NM_001407941.1:c.5065-12G>A
NM_001407942.1:c.5053-12G>A
NM_001407943.1:c.5050-12G>A
NM_001407944.1:c.5050-12G>A
NM_001407945.1:c.5050-12G>A
NM_001407946.1:c.4861-12G>A
NM_001407947.1:c.4861-12G>A
NM_001407948.1:c.4861-12G>A
NM_001407949.1:c.4861-12G>A
NM_001407950.1:c.4858-12G>A
NM_001407951.1:c.4858-12G>A
NM_001407952.1:c.4858-12G>A
NM_001407953.1:c.4858-12G>A
NM_001407954.1:c.4858-12G>A
NM_001407955.1:c.4858-12G>A
NM_001407956.1:c.4855-12G>A
NM_001407957.1:c.4855-12G>A
NM_001407958.1:c.4855-12G>A
NM_001407959.1:c.4813-12G>A
NM_001407960.1:c.4810-12G>A
NM_001407962.1:c.4810-12G>A
NM_001407963.1:c.4807-12G>A
NM_001407964.1:c.4732-12G>A
NM_001407965.1:c.4687-12G>A
NM_001407966.1:c.4306-12G>A
NM_001407967.1:c.4303-12G>A
NM_001407968.1:c.2590-12G>A
NM_001407969.1:c.2587-12G>A
NM_001407970.1:c.1951-12G>A
NM_001407971.1:c.1951-12G>A
NM_001407972.1:c.1948-12G>A
NM_001407973.1:c.1885-12G>A
NM_001407974.1:c.1885-12G>A
NM_001407975.1:c.1885-12G>A
NM_001407976.1:c.1885-12G>A
NM_001407977.1:c.1885-12G>A
NM_001407978.1:c.1885-12G>A
NM_001407979.1:c.1882-12G>A
NM_001407980.1:c.1882-12G>A
NM_001407981.1:c.1882-12G>A
NM_001407982.1:c.1882-12G>A
NM_001407983.1:c.1882-12G>A
NM_001407984.1:c.1882-12G>A
NM_001407985.1:c.1882-12G>A
NM_001407986.1:c.1882-12G>A
NM_001407990.1:c.1882-12G>A
NM_001407991.1:c.1882-12G>A
NM_001407992.1:c.1882-12G>A
NM_001407993.1:c.1882-12G>A
NM_001408392.1:c.1879-12G>A
NM_001408396.1:c.1879-12G>A
NM_001408397.1:c.1879-12G>A
NM_001408398.1:c.1879-12G>A
NM_001408399.1:c.1879-12G>A
NM_001408400.1:c.1879-12G>A
NM_001408401.1:c.1879-12G>A
NM_001408402.1:c.1879-12G>A
NM_001408403.1:c.1879-12G>A
NM_001408404.1:c.1879-12G>A
NM_001408406.1:c.1876-12G>A
NM_001408407.1:c.1876-12G>A
NM_001408408.1:c.1876-12G>A
NM_001408409.1:c.1873-12G>A
NM_001408410.1:c.1810-12G>A
NM_001408411.1:c.1807-12G>A
NM_001408412.1:c.1804-12G>A
NM_001408413.1:c.1804-12G>A
NM_001408414.1:c.1804-12G>A
NM_001408415.1:c.1804-12G>A
NM_001408416.1:c.1804-12G>A
NM_001408418.1:c.1768-12G>A
NM_001408419.1:c.1768-12G>A
NM_001408420.1:c.1768-12G>A
NM_001408421.1:c.1765-12G>A
NM_001408422.1:c.1765-12G>A
NM_001408423.1:c.1765-12G>A
NM_001408424.1:c.1765-12G>A
NM_001408425.1:c.1762-12G>A
NM_001408426.1:c.1762-12G>A
NM_001408427.1:c.1762-12G>A
NM_001408428.1:c.1762-12G>A
NM_001408429.1:c.1762-12G>A
NM_001408430.1:c.1762-12G>A
NM_001408431.1:c.1762-12G>A
NM_001408432.1:c.1759-12G>A
NM_001408433.1:c.1759-12G>A
NM_001408434.1:c.1759-12G>A
NM_001408435.1:c.1759-12G>A
NM_001408436.1:c.1759-12G>A
NM_001408437.1:c.1759-12G>A
NM_001408438.1:c.1759-12G>A
NM_001408439.1:c.1759-12G>A
NM_001408440.1:c.1759-12G>A
NM_001408441.1:c.1759-12G>A
NM_001408442.1:c.1759-12G>A
NM_001408443.1:c.1759-12G>A
NM_001408444.1:c.1759-12G>A
NM_001408445.1:c.1756-12G>A
NM_001408446.1:c.1756-12G>A
NM_001408447.1:c.1756-12G>A
NM_001408448.1:c.1756-12G>A
NM_001408450.1:c.1756-12G>A
NM_001408451.1:c.1750-12G>A
NM_001408452.1:c.1744-12G>A
NM_001408453.1:c.1744-12G>A
NM_001408454.1:c.1744-12G>A
NM_001408455.1:c.1744-12G>A
NM_001408456.1:c.1744-12G>A
NM_001408457.1:c.1744-12G>A
NM_001408458.1:c.1741-12G>A
NM_001408459.1:c.1741-12G>A
NM_001408460.1:c.1741-12G>A
NM_001408461.1:c.1741-12G>A
NM_001408462.1:c.1741-12G>A
NM_001408463.1:c.1741-12G>A
NM_001408464.1:c.1741-12G>A
NM_001408465.1:c.1741-12G>A
NM_001408466.1:c.1741-12G>A
NM_001408467.1:c.1741-12G>A
NM_001408468.1:c.1738-12G>A
NM_001408469.1:c.1738-12G>A
NM_001408470.1:c.1738-12G>A
NM_001408472.1:c.1882-12G>A
NM_001408473.1:c.1879-12G>A
NM_001408474.1:c.1684-12G>A
NM_001408475.1:c.1681-12G>A
NM_001408476.1:c.1681-12G>A
NM_001408478.1:c.1675-12G>A
NM_001408479.1:c.1675-12G>A
NM_001408480.1:c.1675-12G>A
NM_001408481.1:c.1672-12G>A
NM_001408482.1:c.1672-12G>A
NM_001408483.1:c.1672-12G>A
NM_001408484.1:c.1672-12G>A
NM_001408485.1:c.1672-12G>A
NM_001408489.1:c.1672-12G>A
NM_001408490.1:c.1672-12G>A
NM_001408491.1:c.1672-12G>A
NM_001408492.1:c.1669-12G>A
NM_001408493.1:c.1669-12G>A
NM_001408494.1:c.1645-12G>A
NM_001408495.1:c.1639-12G>A
NM_001408496.1:c.1621-12G>A
NM_001408497.1:c.1621-12G>A
NM_001408498.1:c.1621-12G>A
NM_001408499.1:c.1621-12G>A
NM_001408500.1:c.1621-12G>A
NM_001408501.1:c.1621-12G>A
NM_001408502.1:c.1618-12G>A
NM_001408503.1:c.1618-12G>A
NM_001408504.1:c.1618-12G>A
NM_001408505.1:c.1615-12G>A
NM_001408506.1:c.1558-12G>A
NM_001408507.1:c.1555-12G>A
NM_001408508.1:c.1546-12G>A
NM_001408509.1:c.1543-12G>A
NM_001408510.1:c.1504-12G>A
NM_001408511.1:c.1501-12G>A
NM_001408512.1:c.1381-12G>A
NM_001408513.1:c.1354-12G>A
NM_001408514.1:c.958-12G>A
NM_007294.4:c.5194-12G>AMANE SELECT
NM_007297.4:c.5053-12G>A
NM_007298.4:c.1882-12G>A
NM_007299.4:c.1882-12G>A
NM_007300.4:c.5257-12G>A
LRG_292t1:c.5194-12G>A
LRG_292:g.160837G>A
NC_000017.10:g.41209164C>T
NM_007294.3:c.5194-12G>A
U14680.1:n.5313-12G>A

Nucleotide change:

IVS19-12G>A

Links:

BRCA1-HCI: BRCA1_00123; Breast Cancer Information Core (BIC) (BRCA1): 5313-12&base_change=G to A; dbSNP: rs80358079

NCBI 1000 Genomes Browser:

rs80358079

Molecular consequence:

NM_001407571.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.5260-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.5260-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.5257-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.5257-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.5257-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.5254-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.5254-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.5185-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.5185-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.5182-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.5179-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.5137-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.5134-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.5116-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.5116-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.5116-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.5116-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.5113-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.5113-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.5113-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.5110-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.5110-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.5110-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.5110-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.5110-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.5062-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.5062-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.5047-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.5191-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.5188-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.4993-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.4990-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.4987-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.4987-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.4984-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.4981-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.4978-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.4978-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.4978-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.4978-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.4930-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.4927-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.4924-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.4924-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.4924-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.5071-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.5068-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.5065-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.5050-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.4861-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.4861-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.4861-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.4861-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.4858-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.4858-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.4858-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.4858-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.4858-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.4858-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.4855-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.4855-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.4855-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.4813-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.4810-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.4810-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.4807-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.4732-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.4687-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.4306-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.4303-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.2590-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.2587-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.1951-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.1951-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.1948-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.1885-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.1885-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.1885-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.1885-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.1885-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.1885-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.1876-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.1876-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.1876-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.1873-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.1810-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.1807-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.1804-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.1804-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.1804-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.1804-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.1804-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.1768-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.1768-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.1768-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.1765-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.1765-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.1765-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.1765-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.1762-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.1759-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.1756-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.1756-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.1756-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.1756-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.1756-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.1750-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.1744-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.1744-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.1744-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.1744-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.1744-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.1744-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.1741-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.1738-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.1738-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.1738-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.1879-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.1684-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.1681-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.1681-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.1675-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.1675-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.1675-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.1672-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.1669-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.1669-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.1645-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.1639-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.1621-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.1621-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.1621-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.1621-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.1621-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.1621-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.1618-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.1618-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.1618-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.1615-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.1558-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.1555-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.1546-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.1543-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.1504-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.1501-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.1381-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.1354-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.958-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.5194-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.5053-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.1882-12G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.5257-12G>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000076864	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 17, 2023)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 10923033, 23278966, 25682074, 17924331, 21394826, 21673748, 28492532
SCV000699219	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Jun 7, 2017)	germline	clinical testing	PubMed (11) [See all records that cite these PMIDs] 19367322, 21990134, 21673748, 21702907, 21394826, 25682074, 17924331, 16267036, 26727311, 21523855, 23278966 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV004228863	GenomeConnect - Invitae Patient Insights Network	no classification provided	not provided	unknown	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000076864

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 17, 2023)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

SCV000699219

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Jun 7, 2017)

germline

clinical testing

PubMed (11)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV004228863

GenomeConnect - Invitae Patient Insights Network

no classification provided

not provided

unknown

phenotyping only

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	unknown	unknown	1	not provided	not provided	1	not provided	phenotyping only

Citations

PubMed

The breast cancer information core: database design, structure, and scope.

Szabo C, Masiello A, Ryan JF, Brody LC.

Hum Mutat. 2000;16(2):123-31.

PubMed [citation]

PMID:: 10923033

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

See all PubMed Citations (13)

Details of each submission

From Invitae, SCV000076864.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

This sequence change falls in intron 18 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 may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 10923033, 17924331, 23278966, 25682074). ClinVar contains an entry for this variant (Variation ID: 55451). Based on a multifactorial likelihood algorithm using genetic, in silico, and/or statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 17924331). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 21394826, 21673748; Invitae). For these reasons, this variant has been classified as 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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699219.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

Variant summary: The BRCA1 c.5194-12G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a polymorphism outcome for this variant. 2/5 splice prediction tools predict that this variant creates a novel 3' splicing acceptor site. This prediction was confirmed by two independent studies by sequencing cDNA from the patients carrying the variant of interest (Whiley_2011, Wong-Brown_2013). The studies showed that the altered splicing led to the inclusion of 10bp intronic sequence generating a downstream frameshift mutation (p.His1732Phefs). This variant has been reported in multiple patients with breast cancer and family history of HBOC. This variant is absent in 121410 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic, including an expert panel. Taken together, this variant is classified as 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

From GenomeConnect - Invitae Patient Insights Network, SCV004228863.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	phenotyping only	not provided

Description

Variant interpreted as Likely pathogenic and reported on 02-11-2014 by Lab Myriad. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Jun 29, 2024

ClinVar

Relating variation to medicine