NM_007294.4(BRCA1):c.*1337TGT[1] AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Aug 30, 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:: RCV001557816.23

Allele description [Variation Report for NM_007294.4(BRCA1):c.*1337TGT[1]]

NM_007294.4(BRCA1):c.*1337TGT[1]

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.*1337TGT[1]

HGVS:

NC_000017.11:g.43044336ACA[1]
NG_005905.2:g.173643TGT[1]
NM_001407571.1:c.*1337_*1339TGT[1]
NM_001407581.1:c.*1337_*1339TGT[1]
NM_001407582.1:c.*1337_*1339TGT[1]
NM_001407583.1:c.*1337_*1339TGT[1]
NM_001407585.1:c.*1337_*1339TGT[1]
NM_001407587.1:c.*1337_*1339TGT[1]
NM_001407590.1:c.*1337_*1339TGT[1]
NM_001407591.1:c.*1337_*1339TGT[1]
NM_001407593.1:c.*1337_*1339TGT[1]
NM_001407594.1:c.*1337_*1339TGT[1]
NM_001407596.1:c.*1337_*1339TGT[1]
NM_001407597.1:c.*1337_*1339TGT[1]
NM_001407598.1:c.*1337_*1339TGT[1]
NM_001407602.1:c.*1337_*1339TGT[1]
NM_001407603.1:c.*1337_*1339TGT[1]
NM_001407605.1:c.*1337_*1339TGT[1]
NM_001407610.1:c.*1337_*1339TGT[1]
NM_001407611.1:c.*1337_*1339TGT[1]
NM_001407612.1:c.*1337_*1339TGT[1]
NM_001407613.1:c.*1337_*1339TGT[1]
NM_001407614.1:c.*1337_*1339TGT[1]
NM_001407615.1:c.*1337_*1339TGT[1]
NM_001407616.1:c.*1337_*1339TGT[1]
NM_001407617.1:c.*1337_*1339TGT[1]
NM_001407618.1:c.*1337_*1339TGT[1]
NM_001407619.1:c.*1337_*1339TGT[1]
NM_001407620.1:c.*1337_*1339TGT[1]
NM_001407621.1:c.*1337_*1339TGT[1]
NM_001407622.1:c.*1337_*1339TGT[1]
NM_001407623.1:c.*1337_*1339TGT[1]
NM_001407624.1:c.*1337_*1339TGT[1]
NM_001407625.1:c.*1337_*1339TGT[1]
NM_001407626.1:c.*1337_*1339TGT[1]
NM_001407627.1:c.*1337_*1339TGT[1]
NM_001407628.1:c.*1337_*1339TGT[1]
NM_001407629.1:c.*1337_*1339TGT[1]
NM_001407630.1:c.*1337_*1339TGT[1]
NM_001407631.1:c.*1337_*1339TGT[1]
NM_001407632.1:c.*1337_*1339TGT[1]
NM_001407633.1:c.*1337_*1339TGT[1]
NM_001407634.1:c.*1337_*1339TGT[1]
NM_001407635.1:c.*1337_*1339TGT[1]
NM_001407636.1:c.*1337_*1339TGT[1]
NM_001407637.1:c.*1337_*1339TGT[1]
NM_001407638.1:c.*1337_*1339TGT[1]
NM_001407639.1:c.*1337_*1339TGT[1]
NM_001407640.1:c.*1337_*1339TGT[1]
NM_001407641.1:c.*1337_*1339TGT[1]
NM_001407642.1:c.*1337_*1339TGT[1]
NM_001407644.1:c.*1337_*1339TGT[1]
NM_001407645.1:c.*1337_*1339TGT[1]
NM_001407646.1:c.*1337_*1339TGT[1]
NM_001407647.1:c.*1337_*1339TGT[1]
NM_001407648.1:c.*1337_*1339TGT[1]
NM_001407649.1:c.*1337_*1339TGT[1]
NM_001407652.1:c.*1337_*1339TGT[1]
NM_001407653.1:c.*1337_*1339TGT[1]
NM_001407654.1:c.*1337_*1339TGT[1]
NM_001407655.1:c.*1337_*1339TGT[1]
NM_001407656.1:c.*1337_*1339TGT[1]
NM_001407657.1:c.*1337_*1339TGT[1]
NM_001407658.1:c.*1337_*1339TGT[1]
NM_001407659.1:c.*1337_*1339TGT[1]
NM_001407660.1:c.*1337_*1339TGT[1]
NM_001407661.1:c.*1337_*1339TGT[1]
NM_001407662.1:c.*1337_*1339TGT[1]
NM_001407663.1:c.*1337_*1339TGT[1]
NM_001407664.1:c.*1337_*1339TGT[1]
NM_001407665.1:c.*1337_*1339TGT[1]
NM_001407666.1:c.*1337_*1339TGT[1]
NM_001407667.1:c.*1337_*1339TGT[1]
NM_001407668.1:c.*1337_*1339TGT[1]
NM_001407669.1:c.*1337_*1339TGT[1]
NM_001407670.1:c.*1337_*1339TGT[1]
NM_001407671.1:c.*1337_*1339TGT[1]
NM_001407672.1:c.*1337_*1339TGT[1]
NM_001407673.1:c.*1337_*1339TGT[1]
NM_001407674.1:c.*1337_*1339TGT[1]
NM_001407675.1:c.*1337_*1339TGT[1]
NM_001407676.1:c.*1337_*1339TGT[1]
NM_001407677.1:c.*1337_*1339TGT[1]
NM_001407678.1:c.*1337_*1339TGT[1]
NM_001407679.1:c.*1337_*1339TGT[1]
NM_001407680.1:c.*1337_*1339TGT[1]
NM_001407681.1:c.*1337_*1339TGT[1]
NM_001407682.1:c.*1337_*1339TGT[1]
NM_001407683.1:c.*1337_*1339TGT[1]
NM_001407684.1:c.*1337_*1339TGT[1]
NM_001407685.1:c.*1337_*1339TGT[1]
NM_001407686.1:c.*1337_*1339TGT[1]
NM_001407687.1:c.*1337_*1339TGT[1]
NM_001407688.1:c.*1337_*1339TGT[1]
NM_001407689.1:c.*1337_*1339TGT[1]
NM_001407690.1:c.*1337_*1339TGT[1]
NM_001407691.1:c.*1337_*1339TGT[1]
NM_001407692.1:c.*1337_*1339TGT[1]
NM_001407694.1:c.*1337_*1339TGT[1]
NM_001407695.1:c.*1337_*1339TGT[1]
NM_001407696.1:c.*1337_*1339TGT[1]
NM_001407697.1:c.*1337_*1339TGT[1]
NM_001407698.1:c.*1337_*1339TGT[1]
NM_001407724.1:c.*1337_*1339TGT[1]
NM_001407725.1:c.*1337_*1339TGT[1]
NM_001407726.1:c.*1337_*1339TGT[1]
NM_001407727.1:c.*1337_*1339TGT[1]
NM_001407728.1:c.*1337_*1339TGT[1]
NM_001407729.1:c.*1337_*1339TGT[1]
NM_001407730.1:c.*1337_*1339TGT[1]
NM_001407731.1:c.*1337_*1339TGT[1]
NM_001407732.1:c.*1337_*1339TGT[1]
NM_001407733.1:c.*1337_*1339TGT[1]
NM_001407734.1:c.*1337_*1339TGT[1]
NM_001407735.1:c.*1337_*1339TGT[1]
NM_001407736.1:c.*1337_*1339TGT[1]
NM_001407737.1:c.*1337_*1339TGT[1]
NM_001407738.1:c.*1337_*1339TGT[1]
NM_001407739.1:c.*1337_*1339TGT[1]
NM_001407740.1:c.*1337_*1339TGT[1]
NM_001407741.1:c.*1337_*1339TGT[1]
NM_001407742.1:c.*1337_*1339TGT[1]
NM_001407743.1:c.*1337_*1339TGT[1]
NM_001407744.1:c.*1337_*1339TGT[1]
NM_001407745.1:c.*1337_*1339TGT[1]
NM_001407746.1:c.*1337_*1339TGT[1]
NM_001407747.1:c.*1337_*1339TGT[1]
NM_001407748.1:c.*1337_*1339TGT[1]
NM_001407749.1:c.*1337_*1339TGT[1]
NM_001407750.1:c.*1337_*1339TGT[1]
NM_001407751.1:c.*1337_*1339TGT[1]
NM_001407752.1:c.*1337_*1339TGT[1]
NM_001407838.1:c.*1337_*1339TGT[1]
NM_001407839.1:c.*1337_*1339TGT[1]
NM_001407841.1:c.*1337_*1339TGT[1]
NM_001407842.1:c.*1337_*1339TGT[1]
NM_001407843.1:c.*1337_*1339TGT[1]
NM_001407844.1:c.*1337_*1339TGT[1]
NM_001407845.1:c.*1337_*1339TGT[1]
NM_001407846.1:c.*1337_*1339TGT[1]
NM_001407847.1:c.*1337_*1339TGT[1]
NM_001407848.1:c.*1337_*1339TGT[1]
NM_001407849.1:c.*1337_*1339TGT[1]
NM_001407850.1:c.*1337_*1339TGT[1]
NM_001407851.1:c.*1337_*1339TGT[1]
NM_001407852.1:c.*1337_*1339TGT[1]
NM_001407853.1:c.*1337_*1339TGT[1]
NM_001407854.1:c.*1443_*1445TGT[1]
NM_001407858.1:c.*1443_*1445TGT[1]
NM_001407859.1:c.*1443_*1445TGT[1]
NM_001407860.1:c.*1443_*1445TGT[1]
NM_001407861.1:c.*1443_*1445TGT[1]
NM_001407862.1:c.*1337_*1339TGT[1]
NM_001407863.1:c.*1337_*1339TGT[1]
NM_001407874.1:c.*1337_*1339TGT[1]
NM_001407875.1:c.*1337_*1339TGT[1]
NM_001407879.1:c.*1337_*1339TGT[1]
NM_001407881.1:c.*1337_*1339TGT[1]
NM_001407882.1:c.*1337_*1339TGT[1]
NM_001407884.1:c.*1337_*1339TGT[1]
NM_001407885.1:c.*1337_*1339TGT[1]
NM_001407886.1:c.*1337_*1339TGT[1]
NM_001407887.1:c.*1337_*1339TGT[1]
NM_001407889.1:c.*1337_*1339TGT[1]
NM_001407894.1:c.*1337_*1339TGT[1]
NM_001407895.1:c.*1337_*1339TGT[1]
NM_001407896.1:c.*1337_*1339TGT[1]
NM_001407897.1:c.*1337_*1339TGT[1]
NM_001407898.1:c.*1337_*1339TGT[1]
NM_001407899.1:c.*1337_*1339TGT[1]
NM_001407900.1:c.*1337_*1339TGT[1]
NM_001407902.1:c.*1337_*1339TGT[1]
NM_001407904.1:c.*1337_*1339TGT[1]
NM_001407906.1:c.*1337_*1339TGT[1]
NM_001407907.1:c.*1337_*1339TGT[1]
NM_001407908.1:c.*1337_*1339TGT[1]
NM_001407909.1:c.*1337_*1339TGT[1]
NM_001407910.1:c.*1337_*1339TGT[1]
NM_001407915.1:c.*1337_*1339TGT[1]
NM_001407916.1:c.*1337_*1339TGT[1]
NM_001407917.1:c.*1337_*1339TGT[1]
NM_001407918.1:c.*1337_*1339TGT[1]
NM_001407919.1:c.*1337_*1339TGT[1]
NM_001407920.1:c.*1337_*1339TGT[1]
NM_001407921.1:c.*1337_*1339TGT[1]
NM_001407922.1:c.*1337_*1339TGT[1]
NM_001407923.1:c.*1337_*1339TGT[1]
NM_001407924.1:c.*1337_*1339TGT[1]
NM_001407925.1:c.*1337_*1339TGT[1]
NM_001407926.1:c.*1337_*1339TGT[1]
NM_001407927.1:c.*1337_*1339TGT[1]
NM_001407928.1:c.*1337_*1339TGT[1]
NM_001407929.1:c.*1337_*1339TGT[1]
NM_001407930.1:c.*1337_*1339TGT[1]
NM_001407931.1:c.*1337_*1339TGT[1]
NM_001407932.1:c.*1337_*1339TGT[1]
NM_001407933.1:c.*1337_*1339TGT[1]
NM_001407934.1:c.*1337_*1339TGT[1]
NM_001407935.1:c.*1337_*1339TGT[1]
NM_001407936.1:c.*1337_*1339TGT[1]
NM_001407937.1:c.*1443_*1445TGT[1]
NM_001407938.1:c.*1443_*1445TGT[1]
NM_001407939.1:c.*1443_*1445TGT[1]
NM_001407940.1:c.*1443_*1445TGT[1]
NM_001407941.1:c.*1443_*1445TGT[1]
NM_001407942.1:c.*1443_*1445TGT[1]
NM_001407943.1:c.*1443_*1445TGT[1]
NM_001407944.1:c.*1443_*1445TGT[1]
NM_001407945.1:c.*1443_*1445TGT[1]
NM_001407946.1:c.*1337_*1339TGT[1]
NM_001407947.1:c.*1337_*1339TGT[1]
NM_001407948.1:c.*1337_*1339TGT[1]
NM_001407949.1:c.*1337_*1339TGT[1]
NM_001407950.1:c.*1337_*1339TGT[1]
NM_001407951.1:c.*1337_*1339TGT[1]
NM_001407952.1:c.*1337_*1339TGT[1]
NM_001407953.1:c.*1337_*1339TGT[1]
NM_001407954.1:c.*1337_*1339TGT[1]
NM_001407955.1:c.*1337_*1339TGT[1]
NM_001407956.1:c.*1337_*1339TGT[1]
NM_001407957.1:c.*1337_*1339TGT[1]
NM_001407958.1:c.*1337_*1339TGT[1]
NM_001407959.1:c.*1337_*1339TGT[1]
NM_001407960.1:c.*1337_*1339TGT[1]
NM_001407962.1:c.*1337_*1339TGT[1]
NM_001407963.1:c.*1337_*1339TGT[1]
NM_001407964.1:c.*1337_*1339TGT[1]
NM_001407965.1:c.*1337_*1339TGT[1]
NM_001407966.1:c.*1337_*1339TGT[1]
NM_001407967.1:c.*1337_*1339TGT[1]
NM_001407968.1:c.*1337_*1339TGT[1]
NM_001407969.1:c.*1337_*1339TGT[1]
NM_001407970.1:c.*1337_*1339TGT[1]
NM_001407971.1:c.*1337_*1339TGT[1]
NM_001407972.1:c.*1337_*1339TGT[1]
NM_001407973.1:c.*1337_*1339TGT[1]
NM_001407974.1:c.*1337_*1339TGT[1]
NM_001407975.1:c.*1337_*1339TGT[1]
NM_001407976.1:c.*1337_*1339TGT[1]
NM_001407977.1:c.*1337_*1339TGT[1]
NM_001407978.1:c.*1337_*1339TGT[1]
NM_001407979.1:c.*1337_*1339TGT[1]
NM_001407980.1:c.*1337_*1339TGT[1]
NM_001407981.1:c.*1337_*1339TGT[1]
NM_001407982.1:c.*1337_*1339TGT[1]
NM_001407983.1:c.*1337_*1339TGT[1]
NM_001407984.1:c.*1337_*1339TGT[1]
NM_001407985.1:c.*1337_*1339TGT[1]
NM_001407986.1:c.*1337_*1339TGT[1]
NM_001407990.1:c.*1337_*1339TGT[1]
NM_001407991.1:c.*1337_*1339TGT[1]
NM_001407992.1:c.*1337_*1339TGT[1]
NM_001407993.1:c.*1337_*1339TGT[1]
NM_001408392.1:c.*1337_*1339TGT[1]
NM_001408396.1:c.*1337_*1339TGT[1]
NM_001408397.1:c.*1337_*1339TGT[1]
NM_001408398.1:c.*1337_*1339TGT[1]
NM_001408399.1:c.*1337_*1339TGT[1]
NM_001408400.1:c.*1337_*1339TGT[1]
NM_001408401.1:c.*1337_*1339TGT[1]
NM_001408402.1:c.*1337_*1339TGT[1]
NM_001408403.1:c.*1337_*1339TGT[1]
NM_001408404.1:c.*1337_*1339TGT[1]
NM_001408406.1:c.*1337_*1339TGT[1]
NM_001408407.1:c.*1337_*1339TGT[1]
NM_001408408.1:c.*1337_*1339TGT[1]
NM_001408409.1:c.*1337_*1339TGT[1]
NM_001408410.1:c.*1337_*1339TGT[1]
NM_001408411.1:c.*1337_*1339TGT[1]
NM_001408412.1:c.*1337_*1339TGT[1]
NM_001408413.1:c.*1337_*1339TGT[1]
NM_001408414.1:c.*1337_*1339TGT[1]
NM_001408415.1:c.*1337_*1339TGT[1]
NM_001408416.1:c.*1337_*1339TGT[1]
NM_001408418.1:c.*1337_*1339TGT[1]
NM_001408419.1:c.*1337_*1339TGT[1]
NM_001408420.1:c.*1337_*1339TGT[1]
NM_001408421.1:c.*1337_*1339TGT[1]
NM_001408422.1:c.*1337_*1339TGT[1]
NM_001408423.1:c.*1337_*1339TGT[1]
NM_001408424.1:c.*1337_*1339TGT[1]
NM_001408425.1:c.*1337_*1339TGT[1]
NM_001408426.1:c.*1337_*1339TGT[1]
NM_001408427.1:c.*1337_*1339TGT[1]
NM_001408428.1:c.*1337_*1339TGT[1]
NM_001408429.1:c.*1337_*1339TGT[1]
NM_001408430.1:c.*1337_*1339TGT[1]
NM_001408431.1:c.*1337_*1339TGT[1]
NM_001408432.1:c.*1337_*1339TGT[1]
NM_001408433.1:c.*1337_*1339TGT[1]
NM_001408434.1:c.*1337_*1339TGT[1]
NM_001408435.1:c.*1337_*1339TGT[1]
NM_001408436.1:c.*1337_*1339TGT[1]
NM_001408437.1:c.*1337_*1339TGT[1]
NM_001408438.1:c.*1337_*1339TGT[1]
NM_001408439.1:c.*1337_*1339TGT[1]
NM_001408440.1:c.*1337_*1339TGT[1]
NM_001408441.1:c.*1337_*1339TGT[1]
NM_001408442.1:c.*1337_*1339TGT[1]
NM_001408443.1:c.*1337_*1339TGT[1]
NM_001408444.1:c.*1337_*1339TGT[1]
NM_001408445.1:c.*1337_*1339TGT[1]
NM_001408446.1:c.*1337_*1339TGT[1]
NM_001408447.1:c.*1337_*1339TGT[1]
NM_001408448.1:c.*1337_*1339TGT[1]
NM_001408450.1:c.*1337_*1339TGT[1]
NM_001408451.1:c.*1337_*1339TGT[1]
NM_001408452.1:c.*1337_*1339TGT[1]
NM_001408453.1:c.*1337_*1339TGT[1]
NM_001408454.1:c.*1337_*1339TGT[1]
NM_001408455.1:c.*1337_*1339TGT[1]
NM_001408456.1:c.*1337_*1339TGT[1]
NM_001408457.1:c.*1337_*1339TGT[1]
NM_001408458.1:c.*1337_*1339TGT[1]
NM_001408459.1:c.*1337_*1339TGT[1]
NM_001408460.1:c.*1337_*1339TGT[1]
NM_001408461.1:c.*1337_*1339TGT[1]
NM_001408462.1:c.*1337_*1339TGT[1]
NM_001408463.1:c.*1337_*1339TGT[1]
NM_001408464.1:c.*1337_*1339TGT[1]
NM_001408465.1:c.*1337_*1339TGT[1]
NM_001408466.1:c.*1337_*1339TGT[1]
NM_001408467.1:c.*1337_*1339TGT[1]
NM_001408468.1:c.*1337_*1339TGT[1]
NM_001408469.1:c.*1337_*1339TGT[1]
NM_001408470.1:c.*1337_*1339TGT[1]
NM_001408472.1:c.*1443_*1445TGT[1]
NM_001408473.1:c.*1443_*1445TGT[1]
NM_001408474.1:c.*1337_*1339TGT[1]
NM_001408475.1:c.*1337_*1339TGT[1]
NM_001408476.1:c.*1337_*1339TGT[1]
NM_001408478.1:c.*1337_*1339TGT[1]
NM_001408479.1:c.*1337_*1339TGT[1]
NM_001408480.1:c.*1337_*1339TGT[1]
NM_001408481.1:c.*1337_*1339TGT[1]
NM_001408482.1:c.*1337_*1339TGT[1]
NM_001408483.1:c.*1337_*1339TGT[1]
NM_001408484.1:c.*1337_*1339TGT[1]
NM_001408485.1:c.*1337_*1339TGT[1]
NM_001408489.1:c.*1337_*1339TGT[1]
NM_001408490.1:c.*1337_*1339TGT[1]
NM_001408491.1:c.*1337_*1339TGT[1]
NM_001408492.1:c.*1337_*1339TGT[1]
NM_001408493.1:c.*1337_*1339TGT[1]
NM_001408494.1:c.*1337_*1339TGT[1]
NM_001408495.1:c.*1337_*1339TGT[1]
NM_001408496.1:c.*1337_*1339TGT[1]
NM_001408497.1:c.*1337_*1339TGT[1]
NM_001408498.1:c.*1337_*1339TGT[1]
NM_001408499.1:c.*1337_*1339TGT[1]
NM_001408500.1:c.*1337_*1339TGT[1]
NM_001408501.1:c.*1337_*1339TGT[1]
NM_001408502.1:c.*1337_*1339TGT[1]
NM_001408503.1:c.*1337_*1339TGT[1]
NM_001408504.1:c.*1337_*1339TGT[1]
NM_001408505.1:c.*1337_*1339TGT[1]
NM_001408506.1:c.*1337_*1339TGT[1]
NM_001408507.1:c.*1337_*1339TGT[1]
NM_001408508.1:c.*1337_*1339TGT[1]
NM_001408509.1:c.*1337_*1339TGT[1]
NM_001408510.1:c.*1337_*1339TGT[1]
NM_001408511.1:c.*1337_*1339TGT[1]
NM_001408512.1:c.*1337_*1339TGT[1]
NM_001408513.1:c.*1337_*1339TGT[1]
NM_001408514.1:c.*1337_*1339TGT[1]
NM_007294.4:c.*1337TGT[1]MANE SELECT
NM_007297.4:c.*1337TGT[1]
NM_007298.4:c.*1337_*1339TGT[1]
NM_007299.4:c.*1443TGT[1]
NM_007300.4:c.*1337TGT[1]
NM_007304.2:c.*1337_*1339TGT[1]
LRG_292t1:c.*1337_*1339TGT[1]
LRG_292:g.173643TGT[1]
NC_000017.10:g.41196353ACA[1]
NC_000017.10:g.41196353_41196355del
NM_007294.3:c.*1337_*1339TGT[1]
NM_007294.3:c.*1340_*1342del
NM_007298.3:c.*1337TGT[1]
NR_027676.2:n.7106TGT[1]

Links:

dbSNP: rs1281551853

NCBI 1000 Genomes Browser:

rs1281551853

Molecular consequence:

NM_007294.4:c.*1337TGT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_007297.4:c.*1337TGT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_007299.4:c.*1443TGT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_007300.4:c.*1337TGT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_027676.2:n.7106TGT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001779651	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 30, 2023)	germline	clinical testing	Citation Link,
SCV002585644	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Sep 1, 2022)	germline	clinical testing	Citation Link,
SCV002774454	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (May 22, 2023)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 26785832, 31270633, 22753153, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001779651

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 30, 2023)

germline

clinical testing

Citation Link,

SCV002585644

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Sep 1, 2022)

germline

clinical testing

Citation Link,

SCV002774454

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(May 22, 2023)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study.

Garcia AI, Buisson M, Damiola F, Tessereau C, Barjhoux L, Verny-Pierre C, Sornin V, Dondon MG, Eon-Marchais S; GENESIS investigators., Caron O, Gautier-Villars M, Coupier I, Buecher B, Vennin P, Belotti M, Lortholary A, Gesta P, Dugast C, Noguès C, Fricker JP, Faivre L, et al.

Eur J Hum Genet. 2016 Aug;24(9):1324-9. doi: 10.1038/ejhg.2015.284. Epub 2016 Jan 20.

PubMed [citation]

PMID:: 26785832
PMCID:: PMC4989198

Functional coding and non-coding variants in human BRCA1 gene and their use in genetic screening.

Tuncel G, Ergören MÇ.

Med Oncol. 2019 Jul 3;36(8):71. doi: 10.1007/s12032-019-1294-9. Review.

PubMed [citation]

PMID:: 31270633

See all PubMed Citations (4)

Details of each submission

From GeneDx, SCV001779651.4

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

Description

Observed in individuals with breast cancer (PMID: 22753153); Published functional studies are inconclusive: modest impact on transcriptional activity (PMID: 22753153); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26785832, 31270633, 22753153)

#	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 CeGaT Center for Human Genetics Tuebingen, SCV002585644.14

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

Description

BRCA1: PS3:Supporting, BP4

#	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		1	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002774454.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

In the published literature, this variant has been reported in two affected individuals with breast cancer and has been shown to cause a slight reduction on 3’UTR regulatory activity specific to the miR-103 mRNA (PMID: 22753153 (2012)). The frequency of this variant in the general population, 0.000022 (3/133476 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, we are unable to determine the clinical significance of this variant.

#	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

Last Updated: Oct 8, 2024

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