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NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Feb 21, 2023
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:
RCV000775196.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln)]

NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln)

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.97G>C (p.Glu33Gln)
HGVS:
  • NC_000017.11:g.43115763C>G
  • NG_005905.2:g.102221G>C
  • NM_001407571.1:c.-92G>C
  • NM_001407581.1:c.97G>C
  • NM_001407582.1:c.97G>C
  • NM_001407583.1:c.97G>C
  • NM_001407585.1:c.97G>C
  • NM_001407587.1:c.97G>C
  • NM_001407590.1:c.97G>C
  • NM_001407591.1:c.97G>C
  • NM_001407593.1:c.97G>C
  • NM_001407594.1:c.97G>C
  • NM_001407596.1:c.97G>C
  • NM_001407597.1:c.97G>C
  • NM_001407598.1:c.97G>C
  • NM_001407602.1:c.97G>C
  • NM_001407603.1:c.97G>C
  • NM_001407605.1:c.97G>C
  • NM_001407610.1:c.97G>C
  • NM_001407611.1:c.97G>C
  • NM_001407612.1:c.97G>C
  • NM_001407613.1:c.97G>C
  • NM_001407614.1:c.97G>C
  • NM_001407615.1:c.97G>C
  • NM_001407616.1:c.97G>C
  • NM_001407617.1:c.97G>C
  • NM_001407618.1:c.97G>C
  • NM_001407619.1:c.97G>C
  • NM_001407620.1:c.97G>C
  • NM_001407621.1:c.97G>C
  • NM_001407622.1:c.97G>C
  • NM_001407623.1:c.97G>C
  • NM_001407624.1:c.97G>C
  • NM_001407625.1:c.97G>C
  • NM_001407626.1:c.97G>C
  • NM_001407627.1:c.97G>C
  • NM_001407628.1:c.97G>C
  • NM_001407629.1:c.97G>C
  • NM_001407630.1:c.97G>C
  • NM_001407631.1:c.97G>C
  • NM_001407632.1:c.97G>C
  • NM_001407633.1:c.97G>C
  • NM_001407634.1:c.97G>C
  • NM_001407635.1:c.97G>C
  • NM_001407636.1:c.97G>C
  • NM_001407637.1:c.97G>C
  • NM_001407638.1:c.97G>C
  • NM_001407639.1:c.97G>C
  • NM_001407640.1:c.97G>C
  • NM_001407641.1:c.97G>C
  • NM_001407642.1:c.97G>C
  • NM_001407644.1:c.97G>C
  • NM_001407645.1:c.97G>C
  • NM_001407646.1:c.97G>C
  • NM_001407647.1:c.97G>C
  • NM_001407648.1:c.97G>C
  • NM_001407649.1:c.97G>C
  • NM_001407652.1:c.97G>C
  • NM_001407653.1:c.97G>C
  • NM_001407654.1:c.97G>C
  • NM_001407655.1:c.97G>C
  • NM_001407656.1:c.97G>C
  • NM_001407657.1:c.97G>C
  • NM_001407658.1:c.97G>C
  • NM_001407659.1:c.97G>C
  • NM_001407660.1:c.97G>C
  • NM_001407661.1:c.97G>C
  • NM_001407662.1:c.97G>C
  • NM_001407663.1:c.97G>C
  • NM_001407664.1:c.97G>C
  • NM_001407665.1:c.97G>C
  • NM_001407666.1:c.97G>C
  • NM_001407667.1:c.97G>C
  • NM_001407668.1:c.97G>C
  • NM_001407669.1:c.97G>C
  • NM_001407670.1:c.97G>C
  • NM_001407671.1:c.97G>C
  • NM_001407672.1:c.97G>C
  • NM_001407673.1:c.97G>C
  • NM_001407674.1:c.97G>C
  • NM_001407675.1:c.97G>C
  • NM_001407676.1:c.97G>C
  • NM_001407677.1:c.97G>C
  • NM_001407678.1:c.97G>C
  • NM_001407679.1:c.97G>C
  • NM_001407680.1:c.97G>C
  • NM_001407681.1:c.97G>C
  • NM_001407682.1:c.97G>C
  • NM_001407683.1:c.97G>C
  • NM_001407684.1:c.97G>C
  • NM_001407685.1:c.97G>C
  • NM_001407686.1:c.97G>C
  • NM_001407687.1:c.97G>C
  • NM_001407688.1:c.97G>C
  • NM_001407689.1:c.97G>C
  • NM_001407690.1:c.97G>C
  • NM_001407691.1:c.97G>C
  • NM_001407694.1:c.-161G>C
  • NM_001407695.1:c.-165G>C
  • NM_001407696.1:c.-161G>C
  • NM_001407697.1:c.-45G>C
  • NM_001407724.1:c.-161G>C
  • NM_001407725.1:c.-45G>C
  • NM_001407727.1:c.-161G>C
  • NM_001407728.1:c.-45G>C
  • NM_001407729.1:c.-45G>C
  • NM_001407730.1:c.-45G>C
  • NM_001407731.1:c.-161G>C
  • NM_001407733.1:c.-161G>C
  • NM_001407734.1:c.-45G>C
  • NM_001407735.1:c.-45G>C
  • NM_001407737.1:c.-45G>C
  • NM_001407739.1:c.-45G>C
  • NM_001407740.1:c.-45G>C
  • NM_001407741.1:c.-45G>C
  • NM_001407743.1:c.-45G>C
  • NM_001407745.1:c.-45G>C
  • NM_001407746.1:c.-161G>C
  • NM_001407748.1:c.-45G>C
  • NM_001407749.1:c.-161G>C
  • NM_001407752.1:c.-45G>C
  • NM_001407838.1:c.-45G>C
  • NM_001407839.1:c.-45G>C
  • NM_001407841.1:c.-41G>C
  • NM_001407842.1:c.-161G>C
  • NM_001407843.1:c.-161G>C
  • NM_001407844.1:c.-45G>C
  • NM_001407846.1:c.-45G>C
  • NM_001407847.1:c.-45G>C
  • NM_001407848.1:c.-45G>C
  • NM_001407850.1:c.-45G>C
  • NM_001407851.1:c.-45G>C
  • NM_001407853.1:c.-92G>C
  • NM_001407854.1:c.97G>C
  • NM_001407858.1:c.97G>C
  • NM_001407859.1:c.97G>C
  • NM_001407860.1:c.97G>C
  • NM_001407861.1:c.97G>C
  • NM_001407862.1:c.97G>C
  • NM_001407863.1:c.97G>C
  • NM_001407874.1:c.97G>C
  • NM_001407875.1:c.97G>C
  • NM_001407879.1:c.-92G>C
  • NM_001407882.1:c.-92G>C
  • NM_001407884.1:c.-92G>C
  • NM_001407885.1:c.-92G>C
  • NM_001407886.1:c.-92G>C
  • NM_001407887.1:c.-92G>C
  • NM_001407889.1:c.-208G>C
  • NM_001407894.1:c.-92G>C
  • NM_001407895.1:c.-92G>C
  • NM_001407896.1:c.-92G>C
  • NM_001407897.1:c.-92G>C
  • NM_001407899.1:c.-92G>C
  • NM_001407900.1:c.-208G>C
  • NM_001407904.1:c.-92G>C
  • NM_001407906.1:c.-92G>C
  • NM_001407907.1:c.-92G>C
  • NM_001407908.1:c.-92G>C
  • NM_001407909.1:c.-92G>C
  • NM_001407910.1:c.-92G>C
  • NM_001407915.1:c.-92G>C
  • NM_001407916.1:c.-92G>C
  • NM_001407917.1:c.-92G>C
  • NM_001407918.1:c.-92G>C
  • NM_001407919.1:c.97G>C
  • NM_001407920.1:c.-45G>C
  • NM_001407921.1:c.-45G>C
  • NM_001407922.1:c.-45G>C
  • NM_001407923.1:c.-45G>C
  • NM_001407926.1:c.-45G>C
  • NM_001407927.1:c.-45G>C
  • NM_001407930.1:c.-161G>C
  • NM_001407933.1:c.-45G>C
  • NM_001407934.1:c.-45G>C
  • NM_001407935.1:c.-45G>C
  • NM_001407937.1:c.97G>C
  • NM_001407938.1:c.97G>C
  • NM_001407939.1:c.97G>C
  • NM_001407940.1:c.97G>C
  • NM_001407941.1:c.97G>C
  • NM_001407942.1:c.-161G>C
  • NM_001407943.1:c.-45G>C
  • NM_001407944.1:c.-45G>C
  • NM_001407946.1:c.-92G>C
  • NM_001407947.1:c.-92G>C
  • NM_001407948.1:c.-92G>C
  • NM_001407949.1:c.-92G>C
  • NM_001407950.1:c.-92G>C
  • NM_001407951.1:c.-92G>C
  • NM_001407952.1:c.-92G>C
  • NM_001407953.1:c.-92G>C
  • NM_001407954.1:c.-92G>C
  • NM_001407955.1:c.-92G>C
  • NM_001407956.1:c.-92G>C
  • NM_001407957.1:c.-92G>C
  • NM_001407958.1:c.-92G>C
  • NM_001407960.1:c.-207G>C
  • NM_001407962.1:c.-207G>C
  • NM_001407964.1:c.-45G>C
  • NM_001407965.1:c.-323G>C
  • NM_001407968.1:c.97G>C
  • NM_001407969.1:c.97G>C
  • NM_001407970.1:c.97G>C
  • NM_001407971.1:c.97G>C
  • NM_001407972.1:c.97G>C
  • NM_001407973.1:c.97G>C
  • NM_001407974.1:c.97G>C
  • NM_001407975.1:c.97G>C
  • NM_001407976.1:c.97G>C
  • NM_001407977.1:c.97G>C
  • NM_001407978.1:c.97G>C
  • NM_001407979.1:c.97G>C
  • NM_001407980.1:c.97G>C
  • NM_001407981.1:c.97G>C
  • NM_001407982.1:c.97G>C
  • NM_001407983.1:c.97G>C
  • NM_001407984.1:c.97G>C
  • NM_001407985.1:c.97G>C
  • NM_001407986.1:c.97G>C
  • NM_001407990.1:c.97G>C
  • NM_001407991.1:c.97G>C
  • NM_001407992.1:c.97G>C
  • NM_001407993.1:c.97G>C
  • NM_001408392.1:c.97G>C
  • NM_001408396.1:c.97G>C
  • NM_001408397.1:c.97G>C
  • NM_001408398.1:c.97G>C
  • NM_001408399.1:c.97G>C
  • NM_001408400.1:c.97G>C
  • NM_001408401.1:c.97G>C
  • NM_001408402.1:c.97G>C
  • NM_001408403.1:c.97G>C
  • NM_001408404.1:c.97G>C
  • NM_001408406.1:c.97G>C
  • NM_001408407.1:c.97G>C
  • NM_001408408.1:c.97G>C
  • NM_001408409.1:c.97G>C
  • NM_001408410.1:c.-45G>C
  • NM_001408411.1:c.97G>C
  • NM_001408412.1:c.97G>C
  • NM_001408413.1:c.97G>C
  • NM_001408414.1:c.97G>C
  • NM_001408415.1:c.97G>C
  • NM_001408416.1:c.97G>C
  • NM_001408418.1:c.97G>C
  • NM_001408419.1:c.97G>C
  • NM_001408420.1:c.97G>C
  • NM_001408421.1:c.97G>C
  • NM_001408422.1:c.97G>C
  • NM_001408423.1:c.97G>C
  • NM_001408424.1:c.97G>C
  • NM_001408425.1:c.97G>C
  • NM_001408426.1:c.97G>C
  • NM_001408427.1:c.97G>C
  • NM_001408428.1:c.97G>C
  • NM_001408429.1:c.97G>C
  • NM_001408430.1:c.97G>C
  • NM_001408431.1:c.97G>C
  • NM_001408432.1:c.97G>C
  • NM_001408433.1:c.97G>C
  • NM_001408434.1:c.97G>C
  • NM_001408435.1:c.97G>C
  • NM_001408436.1:c.97G>C
  • NM_001408437.1:c.97G>C
  • NM_001408438.1:c.97G>C
  • NM_001408439.1:c.97G>C
  • NM_001408440.1:c.97G>C
  • NM_001408441.1:c.97G>C
  • NM_001408442.1:c.97G>C
  • NM_001408443.1:c.97G>C
  • NM_001408444.1:c.97G>C
  • NM_001408445.1:c.97G>C
  • NM_001408446.1:c.97G>C
  • NM_001408447.1:c.97G>C
  • NM_001408448.1:c.97G>C
  • NM_001408450.1:c.97G>C
  • NM_001408452.1:c.-45G>C
  • NM_001408453.1:c.-45G>C
  • NM_001408455.1:c.-161G>C
  • NM_001408456.1:c.-161G>C
  • NM_001408458.1:c.-45G>C
  • NM_001408462.1:c.-45G>C
  • NM_001408463.1:c.-45G>C
  • NM_001408465.1:c.-165G>C
  • NM_001408466.1:c.-45G>C
  • NM_001408468.1:c.-161G>C
  • NM_001408469.1:c.-45G>C
  • NM_001408470.1:c.-45G>C
  • NM_001408472.1:c.97G>C
  • NM_001408473.1:c.97G>C
  • NM_001408474.1:c.97G>C
  • NM_001408475.1:c.97G>C
  • NM_001408476.1:c.97G>C
  • NM_001408478.1:c.-92G>C
  • NM_001408479.1:c.-92G>C
  • NM_001408480.1:c.-92G>C
  • NM_001408481.1:c.-92G>C
  • NM_001408482.1:c.-92G>C
  • NM_001408483.1:c.-92G>C
  • NM_001408484.1:c.-92G>C
  • NM_001408485.1:c.-92G>C
  • NM_001408489.1:c.-92G>C
  • NM_001408490.1:c.-92G>C
  • NM_001408491.1:c.-92G>C
  • NM_001408492.1:c.-208G>C
  • NM_001408493.1:c.-92G>C
  • NM_001408494.1:c.97G>C
  • NM_001408495.1:c.97G>C
  • NM_001408497.1:c.-45G>C
  • NM_001408499.1:c.-45G>C
  • NM_001408500.1:c.-45G>C
  • NM_001408501.1:c.-161G>C
  • NM_001408502.1:c.-92G>C
  • NM_001408503.1:c.-45G>C
  • NM_001408504.1:c.-45G>C
  • NM_001408505.1:c.-45G>C
  • NM_001408506.1:c.-92G>C
  • NM_001408507.1:c.-92G>C
  • NM_001408508.1:c.-92G>C
  • NM_001408509.1:c.-92G>C
  • NM_001408510.1:c.-207G>C
  • NM_001408512.1:c.-207G>C
  • NM_001408513.1:c.-92G>C
  • NM_001408514.1:c.-92G>C
  • NM_007294.4:c.97G>CMANE SELECT
  • NM_007297.4:c.-8+8254G>C
  • NM_007298.4:c.97G>C
  • NM_007299.4:c.97G>C
  • NM_007300.4:c.97G>C
  • NM_007304.2:c.97G>C
  • NP_001394510.1:p.Glu33Gln
  • NP_001394511.1:p.Glu33Gln
  • NP_001394512.1:p.Glu33Gln
  • NP_001394514.1:p.Glu33Gln
  • NP_001394516.1:p.Glu33Gln
  • NP_001394519.1:p.Glu33Gln
  • NP_001394520.1:p.Glu33Gln
  • NP_001394522.1:p.Glu33Gln
  • NP_001394523.1:p.Glu33Gln
  • NP_001394525.1:p.Glu33Gln
  • NP_001394526.1:p.Glu33Gln
  • NP_001394527.1:p.Glu33Gln
  • NP_001394531.1:p.Glu33Gln
  • NP_001394532.1:p.Glu33Gln
  • NP_001394534.1:p.Glu33Gln
  • NP_001394539.1:p.Glu33Gln
  • NP_001394540.1:p.Glu33Gln
  • NP_001394541.1:p.Glu33Gln
  • NP_001394542.1:p.Glu33Gln
  • NP_001394543.1:p.Glu33Gln
  • NP_001394544.1:p.Glu33Gln
  • NP_001394545.1:p.Glu33Gln
  • NP_001394546.1:p.Glu33Gln
  • NP_001394547.1:p.Glu33Gln
  • NP_001394548.1:p.Glu33Gln
  • NP_001394549.1:p.Glu33Gln
  • NP_001394550.1:p.Glu33Gln
  • NP_001394551.1:p.Glu33Gln
  • NP_001394552.1:p.Glu33Gln
  • NP_001394553.1:p.Glu33Gln
  • NP_001394554.1:p.Glu33Gln
  • NP_001394555.1:p.Glu33Gln
  • NP_001394556.1:p.Glu33Gln
  • NP_001394557.1:p.Glu33Gln
  • NP_001394558.1:p.Glu33Gln
  • NP_001394559.1:p.Glu33Gln
  • NP_001394560.1:p.Glu33Gln
  • NP_001394561.1:p.Glu33Gln
  • NP_001394562.1:p.Glu33Gln
  • NP_001394563.1:p.Glu33Gln
  • NP_001394564.1:p.Glu33Gln
  • NP_001394565.1:p.Glu33Gln
  • NP_001394566.1:p.Glu33Gln
  • NP_001394567.1:p.Glu33Gln
  • NP_001394568.1:p.Glu33Gln
  • NP_001394569.1:p.Glu33Gln
  • NP_001394570.1:p.Glu33Gln
  • NP_001394571.1:p.Glu33Gln
  • NP_001394573.1:p.Glu33Gln
  • NP_001394574.1:p.Glu33Gln
  • NP_001394575.1:p.Glu33Gln
  • NP_001394576.1:p.Glu33Gln
  • NP_001394577.1:p.Glu33Gln
  • NP_001394578.1:p.Glu33Gln
  • NP_001394581.1:p.Glu33Gln
  • NP_001394582.1:p.Glu33Gln
  • NP_001394583.1:p.Glu33Gln
  • NP_001394584.1:p.Glu33Gln
  • NP_001394585.1:p.Glu33Gln
  • NP_001394586.1:p.Glu33Gln
  • NP_001394587.1:p.Glu33Gln
  • NP_001394588.1:p.Glu33Gln
  • NP_001394589.1:p.Glu33Gln
  • NP_001394590.1:p.Glu33Gln
  • NP_001394591.1:p.Glu33Gln
  • NP_001394592.1:p.Glu33Gln
  • NP_001394593.1:p.Glu33Gln
  • NP_001394594.1:p.Glu33Gln
  • NP_001394595.1:p.Glu33Gln
  • NP_001394596.1:p.Glu33Gln
  • NP_001394597.1:p.Glu33Gln
  • NP_001394598.1:p.Glu33Gln
  • NP_001394599.1:p.Glu33Gln
  • NP_001394600.1:p.Glu33Gln
  • NP_001394601.1:p.Glu33Gln
  • NP_001394602.1:p.Glu33Gln
  • NP_001394603.1:p.Glu33Gln
  • NP_001394604.1:p.Glu33Gln
  • NP_001394605.1:p.Glu33Gln
  • NP_001394606.1:p.Glu33Gln
  • NP_001394607.1:p.Glu33Gln
  • NP_001394608.1:p.Glu33Gln
  • NP_001394609.1:p.Glu33Gln
  • NP_001394610.1:p.Glu33Gln
  • NP_001394611.1:p.Glu33Gln
  • NP_001394612.1:p.Glu33Gln
  • NP_001394613.1:p.Glu33Gln
  • NP_001394614.1:p.Glu33Gln
  • NP_001394615.1:p.Glu33Gln
  • NP_001394616.1:p.Glu33Gln
  • NP_001394617.1:p.Glu33Gln
  • NP_001394618.1:p.Glu33Gln
  • NP_001394619.1:p.Glu33Gln
  • NP_001394620.1:p.Glu33Gln
  • NP_001394783.1:p.Glu33Gln
  • NP_001394787.1:p.Glu33Gln
  • NP_001394788.1:p.Glu33Gln
  • NP_001394789.1:p.Glu33Gln
  • NP_001394790.1:p.Glu33Gln
  • NP_001394791.1:p.Glu33Gln
  • NP_001394792.1:p.Glu33Gln
  • NP_001394803.1:p.Glu33Gln
  • NP_001394804.1:p.Glu33Gln
  • NP_001394848.1:p.Glu33Gln
  • NP_001394866.1:p.Glu33Gln
  • NP_001394867.1:p.Glu33Gln
  • NP_001394868.1:p.Glu33Gln
  • NP_001394869.1:p.Glu33Gln
  • NP_001394870.1:p.Glu33Gln
  • NP_001394897.1:p.Glu33Gln
  • NP_001394898.1:p.Glu33Gln
  • NP_001394899.1:p.Glu33Gln
  • NP_001394900.1:p.Glu33Gln
  • NP_001394901.1:p.Glu33Gln
  • NP_001394902.1:p.Glu33Gln
  • NP_001394903.1:p.Glu33Gln
  • NP_001394904.1:p.Glu33Gln
  • NP_001394905.1:p.Glu33Gln
  • NP_001394906.1:p.Glu33Gln
  • NP_001394907.1:p.Glu33Gln
  • NP_001394908.1:p.Glu33Gln
  • NP_001394909.1:p.Glu33Gln
  • NP_001394910.1:p.Glu33Gln
  • NP_001394911.1:p.Glu33Gln
  • NP_001394912.1:p.Glu33Gln
  • NP_001394913.1:p.Glu33Gln
  • NP_001394914.1:p.Glu33Gln
  • NP_001394915.1:p.Glu33Gln
  • NP_001394919.1:p.Glu33Gln
  • NP_001394920.1:p.Glu33Gln
  • NP_001394921.1:p.Glu33Gln
  • NP_001394922.1:p.Glu33Gln
  • NP_001395321.1:p.Glu33Gln
  • NP_001395325.1:p.Glu33Gln
  • NP_001395326.1:p.Glu33Gln
  • NP_001395327.1:p.Glu33Gln
  • NP_001395328.1:p.Glu33Gln
  • NP_001395329.1:p.Glu33Gln
  • NP_001395330.1:p.Glu33Gln
  • NP_001395331.1:p.Glu33Gln
  • NP_001395332.1:p.Glu33Gln
  • NP_001395333.1:p.Glu33Gln
  • NP_001395335.1:p.Glu33Gln
  • NP_001395336.1:p.Glu33Gln
  • NP_001395337.1:p.Glu33Gln
  • NP_001395338.1:p.Glu33Gln
  • NP_001395340.1:p.Glu33Gln
  • NP_001395341.1:p.Glu33Gln
  • NP_001395342.1:p.Glu33Gln
  • NP_001395343.1:p.Glu33Gln
  • NP_001395344.1:p.Glu33Gln
  • NP_001395345.1:p.Glu33Gln
  • NP_001395347.1:p.Glu33Gln
  • NP_001395348.1:p.Glu33Gln
  • NP_001395349.1:p.Glu33Gln
  • NP_001395350.1:p.Glu33Gln
  • NP_001395351.1:p.Glu33Gln
  • NP_001395352.1:p.Glu33Gln
  • NP_001395353.1:p.Glu33Gln
  • NP_001395354.1:p.Glu33Gln
  • NP_001395355.1:p.Glu33Gln
  • NP_001395356.1:p.Glu33Gln
  • NP_001395357.1:p.Glu33Gln
  • NP_001395358.1:p.Glu33Gln
  • NP_001395359.1:p.Glu33Gln
  • NP_001395360.1:p.Glu33Gln
  • NP_001395361.1:p.Glu33Gln
  • NP_001395362.1:p.Glu33Gln
  • NP_001395363.1:p.Glu33Gln
  • NP_001395364.1:p.Glu33Gln
  • NP_001395365.1:p.Glu33Gln
  • NP_001395366.1:p.Glu33Gln
  • NP_001395367.1:p.Glu33Gln
  • NP_001395368.1:p.Glu33Gln
  • NP_001395369.1:p.Glu33Gln
  • NP_001395370.1:p.Glu33Gln
  • NP_001395371.1:p.Glu33Gln
  • NP_001395372.1:p.Glu33Gln
  • NP_001395373.1:p.Glu33Gln
  • NP_001395374.1:p.Glu33Gln
  • NP_001395375.1:p.Glu33Gln
  • NP_001395376.1:p.Glu33Gln
  • NP_001395377.1:p.Glu33Gln
  • NP_001395379.1:p.Glu33Gln
  • NP_001395401.1:p.Glu33Gln
  • NP_001395402.1:p.Glu33Gln
  • NP_001395403.1:p.Glu33Gln
  • NP_001395404.1:p.Glu33Gln
  • NP_001395405.1:p.Glu33Gln
  • NP_001395423.1:p.Glu33Gln
  • NP_001395424.1:p.Glu33Gln
  • NP_009225.1:p.Glu33Gln
  • NP_009225.1:p.Glu33Gln
  • NP_009229.2:p.Glu33Gln
  • NP_009229.2:p.Glu33Gln
  • NP_009230.2:p.Glu33Gln
  • NP_009231.2:p.Glu33Gln
  • NP_009235.2:p.Glu33Gln
  • LRG_292t1:c.97G>C
  • LRG_292:g.102221G>C
  • LRG_292p1:p.Glu33Gln
  • NC_000017.10:g.41267780C>G
  • NM_007294.3:c.97G>C
  • NM_007298.3:c.97G>C
  • NR_027676.2:n.299G>C
  • U14680.1:n.216G>C
Protein change:
E33Q
Links:
dbSNP: rs80357066
NCBI 1000 Genomes Browser:
rs80357066
Molecular consequence:
  • NM_007297.4:c.-8+8254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.299G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000909422Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 21, 2023) 		germlineclinical testing

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

SCV002693512Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 28, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

PubMed [citation]
PMID:
31131967
PMCID:
PMC6772163

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
See all PubMed Citations (5)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000909422.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This missense variant replaces glutamic acid with glutamine at codon 33 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Functional studies have reported that this variant does not impact BRCA1 functions in a haploid cell proliferation assay and in a E3 ligase and a yeast two-hybrid BARD1 binding assays (PMID: 25823446, 30209399). A multifactorial analysis has reported likelihood ratios for pathogenicity of 1.0673 and 0.5995 based on co-occurrence and family history, respectively (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Ambry Genetics, SCV002693512.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024