IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000632
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.891G>T (p.Met297Ile)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Benign
Jun 2019 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.891G>T (p.Met297Ile)
Variation ID: 812549 Accession: VCV000812549.5
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094640 (GRCh38) [ NCBI UCSC ] 17: 41246657 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Feb 16, 2020 Sep 3, 2023 Jun 18, 2019 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.891G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Met297Ile missense NM_001407571.1:c.678G>T NP_001394500.1:p.Met226Ile missense NM_001407581.1:c.891G>T NP_001394510.1:p.Met297Ile missense NM_001407582.1:c.891G>T NP_001394511.1:p.Met297Ile missense NM_001407583.1:c.891G>T NP_001394512.1:p.Met297Ile missense NM_001407585.1:c.891G>T NP_001394514.1:p.Met297Ile missense NM_001407587.1:c.888G>T NP_001394516.1:p.Met296Ile missense NM_001407590.1:c.888G>T NP_001394519.1:p.Met296Ile missense NM_001407591.1:c.888G>T NP_001394520.1:p.Met296Ile missense NM_001407593.1:c.891G>T NP_001394522.1:p.Met297Ile missense NM_001407594.1:c.891G>T NP_001394523.1:p.Met297Ile missense NM_001407596.1:c.891G>T NP_001394525.1:p.Met297Ile missense NM_001407597.1:c.891G>T NP_001394526.1:p.Met297Ile missense NM_001407598.1:c.891G>T NP_001394527.1:p.Met297Ile missense NM_001407602.1:c.891G>T NP_001394531.1:p.Met297Ile missense NM_001407603.1:c.891G>T NP_001394532.1:p.Met297Ile missense NM_001407605.1:c.891G>T NP_001394534.1:p.Met297Ile missense NM_001407610.1:c.888G>T NP_001394539.1:p.Met296Ile missense NM_001407611.1:c.888G>T NP_001394540.1:p.Met296Ile missense NM_001407612.1:c.888G>T NP_001394541.1:p.Met296Ile missense NM_001407613.1:c.888G>T NP_001394542.1:p.Met296Ile missense NM_001407614.1:c.888G>T NP_001394543.1:p.Met296Ile missense NM_001407615.1:c.888G>T NP_001394544.1:p.Met296Ile missense NM_001407616.1:c.891G>T NP_001394545.1:p.Met297Ile missense NM_001407617.1:c.891G>T NP_001394546.1:p.Met297Ile missense NM_001407618.1:c.891G>T NP_001394547.1:p.Met297Ile missense NM_001407619.1:c.891G>T NP_001394548.1:p.Met297Ile missense NM_001407620.1:c.891G>T NP_001394549.1:p.Met297Ile missense NM_001407621.1:c.891G>T NP_001394550.1:p.Met297Ile missense NM_001407622.1:c.891G>T NP_001394551.1:p.Met297Ile missense NM_001407623.1:c.891G>T NP_001394552.1:p.Met297Ile missense NM_001407624.1:c.891G>T NP_001394553.1:p.Met297Ile missense NM_001407625.1:c.891G>T NP_001394554.1:p.Met297Ile missense NM_001407626.1:c.891G>T NP_001394555.1:p.Met297Ile missense NM_001407627.1:c.888G>T NP_001394556.1:p.Met296Ile missense NM_001407628.1:c.888G>T NP_001394557.1:p.Met296Ile missense NM_001407629.1:c.888G>T NP_001394558.1:p.Met296Ile missense NM_001407630.1:c.888G>T NP_001394559.1:p.Met296Ile missense NM_001407631.1:c.888G>T NP_001394560.1:p.Met296Ile missense NM_001407632.1:c.888G>T NP_001394561.1:p.Met296Ile missense NM_001407633.1:c.888G>T NP_001394562.1:p.Met296Ile missense NM_001407634.1:c.888G>T NP_001394563.1:p.Met296Ile missense NM_001407635.1:c.888G>T NP_001394564.1:p.Met296Ile missense NM_001407636.1:c.888G>T NP_001394565.1:p.Met296Ile missense NM_001407637.1:c.888G>T NP_001394566.1:p.Met296Ile missense NM_001407638.1:c.888G>T NP_001394567.1:p.Met296Ile missense NM_001407639.1:c.891G>T NP_001394568.1:p.Met297Ile missense NM_001407640.1:c.891G>T NP_001394569.1:p.Met297Ile missense NM_001407641.1:c.891G>T NP_001394570.1:p.Met297Ile missense NM_001407642.1:c.891G>T NP_001394571.1:p.Met297Ile missense NM_001407644.1:c.888G>T NP_001394573.1:p.Met296Ile missense NM_001407645.1:c.888G>T NP_001394574.1:p.Met296Ile missense NM_001407646.1:c.882G>T NP_001394575.1:p.Met294Ile missense NM_001407647.1:c.882G>T NP_001394576.1:p.Met294Ile missense NM_001407648.1:c.768G>T NP_001394577.1:p.Met256Ile missense NM_001407649.1:c.765G>T NP_001394578.1:p.Met255Ile missense NM_001407652.1:c.891G>T NP_001394581.1:p.Met297Ile missense NM_001407653.1:c.813G>T NP_001394582.1:p.Met271Ile missense NM_001407654.1:c.813G>T NP_001394583.1:p.Met271Ile missense NM_001407655.1:c.813G>T NP_001394584.1:p.Met271Ile missense NM_001407656.1:c.813G>T NP_001394585.1:p.Met271Ile missense NM_001407657.1:c.813G>T NP_001394586.1:p.Met271Ile missense NM_001407658.1:c.813G>T NP_001394587.1:p.Met271Ile missense NM_001407659.1:c.810G>T NP_001394588.1:p.Met270Ile missense NM_001407660.1:c.810G>T NP_001394589.1:p.Met270Ile missense NM_001407661.1:c.810G>T NP_001394590.1:p.Met270Ile missense NM_001407662.1:c.810G>T NP_001394591.1:p.Met270Ile missense NM_001407663.1:c.813G>T NP_001394592.1:p.Met271Ile missense NM_001407664.1:c.768G>T NP_001394593.1:p.Met256Ile missense NM_001407665.1:c.768G>T NP_001394594.1:p.Met256Ile missense NM_001407666.1:c.768G>T NP_001394595.1:p.Met256Ile missense NM_001407667.1:c.768G>T NP_001394596.1:p.Met256Ile missense NM_001407668.1:c.768G>T NP_001394597.1:p.Met256Ile missense NM_001407669.1:c.768G>T NP_001394598.1:p.Met256Ile missense NM_001407670.1:c.765G>T NP_001394599.1:p.Met255Ile missense NM_001407671.1:c.765G>T NP_001394600.1:p.Met255Ile missense NM_001407672.1:c.765G>T NP_001394601.1:p.Met255Ile missense NM_001407673.1:c.765G>T NP_001394602.1:p.Met255Ile missense NM_001407674.1:c.768G>T NP_001394603.1:p.Met256Ile missense NM_001407675.1:c.768G>T NP_001394604.1:p.Met256Ile missense NM_001407676.1:c.768G>T NP_001394605.1:p.Met256Ile missense NM_001407677.1:c.768G>T NP_001394606.1:p.Met256Ile missense NM_001407678.1:c.768G>T NP_001394607.1:p.Met256Ile missense NM_001407679.1:c.768G>T NP_001394608.1:p.Met256Ile missense NM_001407680.1:c.768G>T NP_001394609.1:p.Met256Ile missense NM_001407681.1:c.768G>T NP_001394610.1:p.Met256Ile missense NM_001407682.1:c.768G>T NP_001394611.1:p.Met256Ile missense NM_001407683.1:c.768G>T NP_001394612.1:p.Met256Ile missense NM_001407684.1:c.891G>T NP_001394613.1:p.Met297Ile missense NM_001407685.1:c.765G>T NP_001394614.1:p.Met255Ile missense NM_001407686.1:c.765G>T NP_001394615.1:p.Met255Ile missense NM_001407687.1:c.765G>T NP_001394616.1:p.Met255Ile missense NM_001407688.1:c.765G>T NP_001394617.1:p.Met255Ile missense NM_001407689.1:c.765G>T NP_001394618.1:p.Met255Ile missense NM_001407690.1:c.765G>T NP_001394619.1:p.Met255Ile missense NM_001407691.1:c.765G>T NP_001394620.1:p.Met255Ile missense NM_001407692.1:c.750G>T NP_001394621.1:p.Met250Ile missense NM_001407694.1:c.750G>T NP_001394623.1:p.Met250Ile missense NM_001407695.1:c.750G>T NP_001394624.1:p.Met250Ile missense NM_001407696.1:c.750G>T NP_001394625.1:p.Met250Ile missense NM_001407697.1:c.750G>T NP_001394626.1:p.Met250Ile missense NM_001407698.1:c.750G>T NP_001394627.1:p.Met250Ile missense NM_001407724.1:c.750G>T NP_001394653.1:p.Met250Ile missense NM_001407725.1:c.750G>T NP_001394654.1:p.Met250Ile missense NM_001407726.1:c.750G>T NP_001394655.1:p.Met250Ile missense NM_001407727.1:c.750G>T NP_001394656.1:p.Met250Ile missense NM_001407728.1:c.750G>T NP_001394657.1:p.Met250Ile missense NM_001407729.1:c.750G>T NP_001394658.1:p.Met250Ile missense NM_001407730.1:c.750G>T NP_001394659.1:p.Met250Ile missense NM_001407731.1:c.750G>T NP_001394660.1:p.Met250Ile missense NM_001407732.1:c.750G>T NP_001394661.1:p.Met250Ile missense NM_001407733.1:c.750G>T NP_001394662.1:p.Met250Ile missense NM_001407734.1:c.750G>T NP_001394663.1:p.Met250Ile missense NM_001407735.1:c.750G>T NP_001394664.1:p.Met250Ile missense NM_001407736.1:c.750G>T NP_001394665.1:p.Met250Ile missense NM_001407737.1:c.750G>T NP_001394666.1:p.Met250Ile missense NM_001407738.1:c.750G>T NP_001394667.1:p.Met250Ile missense NM_001407739.1:c.750G>T NP_001394668.1:p.Met250Ile missense NM_001407740.1:c.747G>T NP_001394669.1:p.Met249Ile missense NM_001407741.1:c.747G>T NP_001394670.1:p.Met249Ile missense NM_001407742.1:c.747G>T NP_001394671.1:p.Met249Ile missense NM_001407743.1:c.747G>T NP_001394672.1:p.Met249Ile missense NM_001407744.1:c.747G>T NP_001394673.1:p.Met249Ile missense NM_001407745.1:c.747G>T NP_001394674.1:p.Met249Ile missense NM_001407746.1:c.747G>T NP_001394675.1:p.Met249Ile missense NM_001407747.1:c.747G>T NP_001394676.1:p.Met249Ile missense NM_001407748.1:c.747G>T NP_001394677.1:p.Met249Ile missense NM_001407749.1:c.747G>T NP_001394678.1:p.Met249Ile missense NM_001407750.1:c.750G>T NP_001394679.1:p.Met250Ile missense NM_001407751.1:c.750G>T NP_001394680.1:p.Met250Ile missense NM_001407752.1:c.750G>T NP_001394681.1:p.Met250Ile missense NM_001407838.1:c.747G>T NP_001394767.1:p.Met249Ile missense NM_001407839.1:c.747G>T NP_001394768.1:p.Met249Ile missense NM_001407841.1:c.747G>T NP_001394770.1:p.Met249Ile missense NM_001407842.1:c.747G>T NP_001394771.1:p.Met249Ile missense NM_001407843.1:c.747G>T NP_001394772.1:p.Met249Ile missense NM_001407844.1:c.747G>T NP_001394773.1:p.Met249Ile missense NM_001407845.1:c.747G>T NP_001394774.1:p.Met249Ile missense NM_001407846.1:c.747G>T NP_001394775.1:p.Met249Ile missense NM_001407847.1:c.747G>T NP_001394776.1:p.Met249Ile missense NM_001407848.1:c.747G>T NP_001394777.1:p.Met249Ile missense NM_001407849.1:c.747G>T NP_001394778.1:p.Met249Ile missense NM_001407850.1:c.750G>T NP_001394779.1:p.Met250Ile missense NM_001407851.1:c.750G>T NP_001394780.1:p.Met250Ile missense NM_001407852.1:c.750G>T NP_001394781.1:p.Met250Ile missense NM_001407853.1:c.678G>T NP_001394782.1:p.Met226Ile missense NM_001407854.1:c.891G>T NP_001394783.1:p.Met297Ile missense NM_001407858.1:c.891G>T NP_001394787.1:p.Met297Ile missense NM_001407859.1:c.891G>T NP_001394788.1:p.Met297Ile missense NM_001407860.1:c.888G>T NP_001394789.1:p.Met296Ile missense NM_001407861.1:c.888G>T NP_001394790.1:p.Met296Ile missense NM_001407862.1:c.690G>T NP_001394791.1:p.Met230Ile missense NM_001407863.1:c.768G>T NP_001394792.1:p.Met256Ile missense NM_001407874.1:c.687G>T NP_001394803.1:p.Met229Ile missense NM_001407875.1:c.687G>T NP_001394804.1:p.Met229Ile missense NM_001407879.1:c.681G>T NP_001394808.1:p.Met227Ile missense NM_001407881.1:c.681G>T NP_001394810.1:p.Met227Ile missense NM_001407882.1:c.681G>T NP_001394811.1:p.Met227Ile missense NM_001407884.1:c.681G>T NP_001394813.1:p.Met227Ile missense NM_001407885.1:c.681G>T NP_001394814.1:p.Met227Ile missense NM_001407886.1:c.681G>T NP_001394815.1:p.Met227Ile missense NM_001407887.1:c.681G>T NP_001394816.1:p.Met227Ile missense NM_001407889.1:c.681G>T NP_001394818.1:p.Met227Ile missense NM_001407894.1:c.678G>T NP_001394823.1:p.Met226Ile missense NM_001407895.1:c.678G>T NP_001394824.1:p.Met226Ile missense NM_001407896.1:c.678G>T NP_001394825.1:p.Met226Ile missense NM_001407897.1:c.678G>T NP_001394826.1:p.Met226Ile missense NM_001407898.1:c.678G>T NP_001394827.1:p.Met226Ile missense NM_001407899.1:c.678G>T NP_001394828.1:p.Met226Ile missense NM_001407900.1:c.681G>T NP_001394829.1:p.Met227Ile missense NM_001407902.1:c.681G>T NP_001394831.1:p.Met227Ile missense NM_001407904.1:c.681G>T NP_001394833.1:p.Met227Ile missense NM_001407906.1:c.681G>T NP_001394835.1:p.Met227Ile missense NM_001407907.1:c.681G>T NP_001394836.1:p.Met227Ile missense NM_001407908.1:c.681G>T NP_001394837.1:p.Met227Ile missense NM_001407909.1:c.681G>T NP_001394838.1:p.Met227Ile missense NM_001407910.1:c.681G>T NP_001394839.1:p.Met227Ile missense NM_001407915.1:c.678G>T NP_001394844.1:p.Met226Ile missense NM_001407916.1:c.678G>T NP_001394845.1:p.Met226Ile missense NM_001407917.1:c.678G>T NP_001394846.1:p.Met226Ile missense NM_001407918.1:c.678G>T NP_001394847.1:p.Met226Ile missense NM_001407919.1:c.768G>T NP_001394848.1:p.Met256Ile missense NM_001407920.1:c.627G>T NP_001394849.1:p.Met209Ile missense NM_001407921.1:c.627G>T NP_001394850.1:p.Met209Ile missense NM_001407922.1:c.627G>T NP_001394851.1:p.Met209Ile missense NM_001407923.1:c.627G>T NP_001394852.1:p.Met209Ile missense NM_001407924.1:c.627G>T NP_001394853.1:p.Met209Ile missense NM_001407925.1:c.627G>T NP_001394854.1:p.Met209Ile missense NM_001407926.1:c.627G>T NP_001394855.1:p.Met209Ile missense NM_001407927.1:c.627G>T NP_001394856.1:p.Met209Ile missense NM_001407928.1:c.627G>T NP_001394857.1:p.Met209Ile missense NM_001407929.1:c.627G>T NP_001394858.1:p.Met209Ile missense NM_001407930.1:c.624G>T NP_001394859.1:p.Met208Ile missense NM_001407931.1:c.624G>T NP_001394860.1:p.Met208Ile missense NM_001407932.1:c.624G>T NP_001394861.1:p.Met208Ile missense NM_001407933.1:c.627G>T NP_001394862.1:p.Met209Ile missense NM_001407934.1:c.624G>T NP_001394863.1:p.Met208Ile missense NM_001407935.1:c.627G>T NP_001394864.1:p.Met209Ile missense NM_001407936.1:c.624G>T NP_001394865.1:p.Met208Ile missense NM_001407937.1:c.768G>T NP_001394866.1:p.Met256Ile missense NM_001407938.1:c.768G>T NP_001394867.1:p.Met256Ile missense NM_001407939.1:c.768G>T NP_001394868.1:p.Met256Ile missense NM_001407940.1:c.765G>T NP_001394869.1:p.Met255Ile missense NM_001407941.1:c.765G>T NP_001394870.1:p.Met255Ile missense NM_001407942.1:c.750G>T NP_001394871.1:p.Met250Ile missense NM_001407943.1:c.747G>T NP_001394872.1:p.Met249Ile missense NM_001407944.1:c.750G>T NP_001394873.1:p.Met250Ile missense NM_001407945.1:c.750G>T NP_001394874.1:p.Met250Ile missense NM_001407946.1:c.558G>T NP_001394875.1:p.Met186Ile missense NM_001407947.1:c.558G>T NP_001394876.1:p.Met186Ile missense NM_001407948.1:c.558G>T NP_001394877.1:p.Met186Ile missense NM_001407949.1:c.558G>T NP_001394878.1:p.Met186Ile missense NM_001407950.1:c.558G>T NP_001394879.1:p.Met186Ile missense NM_001407951.1:c.558G>T NP_001394880.1:p.Met186Ile missense NM_001407952.1:c.558G>T NP_001394881.1:p.Met186Ile missense NM_001407953.1:c.558G>T NP_001394882.1:p.Met186Ile missense NM_001407954.1:c.555G>T NP_001394883.1:p.Met185Ile missense NM_001407955.1:c.555G>T NP_001394884.1:p.Met185Ile missense NM_001407956.1:c.555G>T NP_001394885.1:p.Met185Ile missense NM_001407957.1:c.558G>T NP_001394886.1:p.Met186Ile missense NM_001407958.1:c.555G>T NP_001394887.1:p.Met185Ile missense NM_001407959.1:c.510G>T NP_001394888.1:p.Met170Ile missense NM_001407960.1:c.510G>T NP_001394889.1:p.Met170Ile missense NM_001407962.1:c.507G>T NP_001394891.1:p.Met169Ile missense NM_001407963.1:c.510G>T NP_001394892.1:p.Met170Ile missense NM_001407964.1:c.747G>T NP_001394893.1:p.Met249Ile missense NM_001407965.1:c.387G>T NP_001394894.1:p.Met129Ile missense NM_001407966.1:c.3G>T NP_001394895.1:p.Met1Ile missense initiator codon variant NM_001407967.1:c.3G>T NP_001394896.1:p.Met1Ile missense initiator codon variant NM_001407968.1:c.787+104G>T intron variant NM_001407969.1:c.787+104G>T intron variant NM_001407970.1:c.787+104G>T intron variant NM_001407971.1:c.787+104G>T intron variant NM_001407972.1:c.784+104G>T intron variant NM_001407973.1:c.787+104G>T intron variant NM_001407974.1:c.787+104G>T intron variant NM_001407975.1:c.787+104G>T intron variant NM_001407976.1:c.787+104G>T intron variant NM_001407977.1:c.787+104G>T intron variant NM_001407978.1:c.787+104G>T intron variant NM_001407979.1:c.787+104G>T intron variant NM_001407980.1:c.787+104G>T intron variant NM_001407981.1:c.787+104G>T intron variant NM_001407982.1:c.787+104G>T intron variant NM_001407983.1:c.787+104G>T intron variant NM_001407984.1:c.784+104G>T intron variant NM_001407985.1:c.784+104G>T intron variant NM_001407986.1:c.784+104G>T intron variant NM_001407990.1:c.787+104G>T intron variant NM_001407991.1:c.784+104G>T intron variant NM_001407992.1:c.784+104G>T intron variant NM_001407993.1:c.787+104G>T intron variant NM_001408392.1:c.784+104G>T intron variant NM_001408396.1:c.784+104G>T intron variant NM_001408397.1:c.784+104G>T intron variant NM_001408398.1:c.784+104G>T intron variant NM_001408399.1:c.784+104G>T intron variant NM_001408400.1:c.784+104G>T intron variant NM_001408401.1:c.784+104G>T intron variant NM_001408402.1:c.784+104G>T intron variant NM_001408403.1:c.787+104G>T intron variant NM_001408404.1:c.787+104G>T intron variant NM_001408406.1:c.790+101G>T intron variant NM_001408407.1:c.784+104G>T intron variant NM_001408408.1:c.778+104G>T intron variant NM_001408409.1:c.709+104G>T intron variant NM_001408410.1:c.646+104G>T intron variant NM_001408411.1:c.709+104G>T intron variant NM_001408412.1:c.709+104G>T intron variant NM_001408413.1:c.706+104G>T intron variant NM_001408414.1:c.709+104G>T intron variant NM_001408415.1:c.709+104G>T intron variant NM_001408416.1:c.706+104G>T intron variant NM_001408418.1:c.670+1206G>T intron variant NM_001408419.1:c.670+1206G>T intron variant NM_001408420.1:c.670+1206G>T intron variant NM_001408421.1:c.667+1206G>T intron variant NM_001408422.1:c.670+1206G>T intron variant NM_001408423.1:c.670+1206G>T intron variant NM_001408424.1:c.667+1206G>T intron variant NM_001408425.1:c.664+104G>T intron variant NM_001408426.1:c.664+104G>T intron variant NM_001408427.1:c.664+104G>T intron variant NM_001408428.1:c.664+104G>T intron variant NM_001408429.1:c.664+104G>T intron variant NM_001408430.1:c.664+104G>T intron variant NM_001408431.1:c.667+1206G>T intron variant NM_001408432.1:c.661+104G>T intron variant NM_001408433.1:c.661+104G>T intron variant NM_001408434.1:c.661+104G>T intron variant NM_001408435.1:c.661+104G>T intron variant NM_001408436.1:c.664+104G>T intron variant NM_001408437.1:c.664+104G>T intron variant NM_001408438.1:c.664+104G>T intron variant NM_001408439.1:c.664+104G>T intron variant NM_001408440.1:c.664+104G>T intron variant NM_001408441.1:c.664+104G>T intron variant NM_001408442.1:c.664+104G>T intron variant NM_001408443.1:c.664+104G>T intron variant NM_001408444.1:c.664+104G>T intron variant NM_001408445.1:c.661+104G>T intron variant NM_001408446.1:c.661+104G>T intron variant NM_001408447.1:c.661+104G>T intron variant NM_001408448.1:c.661+104G>T intron variant NM_001408450.1:c.661+104G>T intron variant NM_001408451.1:c.652+104G>T intron variant NM_001408452.1:c.646+104G>T intron variant NM_001408453.1:c.646+104G>T intron variant NM_001408454.1:c.646+104G>T intron variant NM_001408455.1:c.646+104G>T intron variant NM_001408456.1:c.646+104G>T intron variant NM_001408457.1:c.646+104G>T intron variant NM_001408458.1:c.646+104G>T intron variant NM_001408459.1:c.646+104G>T intron variant NM_001408460.1:c.646+104G>T intron variant NM_001408461.1:c.646+104G>T intron variant NM_001408462.1:c.643+104G>T intron variant NM_001408463.1:c.643+104G>T intron variant NM_001408464.1:c.643+104G>T intron variant NM_001408465.1:c.643+104G>T intron variant NM_001408466.1:c.646+104G>T intron variant NM_001408467.1:c.646+104G>T intron variant NM_001408468.1:c.643+104G>T intron variant NM_001408469.1:c.646+104G>T intron variant NM_001408470.1:c.643+104G>T intron variant NM_001408472.1:c.787+104G>T intron variant NM_001408473.1:c.784+104G>T intron variant NM_001408474.1:c.586+104G>T intron variant NM_001408475.1:c.583+104G>T intron variant NM_001408476.1:c.586+104G>T intron variant NM_001408478.1:c.577+104G>T intron variant NM_001408479.1:c.577+104G>T intron variant NM_001408480.1:c.577+104G>T intron variant NM_001408481.1:c.577+104G>T intron variant NM_001408482.1:c.577+104G>T intron variant NM_001408483.1:c.577+104G>T intron variant NM_001408484.1:c.577+104G>T intron variant NM_001408485.1:c.577+104G>T intron variant NM_001408489.1:c.577+104G>T intron variant NM_001408490.1:c.574+104G>T intron variant NM_001408491.1:c.574+104G>T intron variant NM_001408492.1:c.577+104G>T intron variant NM_001408493.1:c.574+104G>T intron variant NM_001408494.1:c.548-3608G>T intron variant NM_001408495.1:c.545-3608G>T intron variant NM_001408496.1:c.523+104G>T intron variant NM_001408497.1:c.523+104G>T intron variant NM_001408498.1:c.523+104G>T intron variant NM_001408499.1:c.523+104G>T intron variant NM_001408500.1:c.523+104G>T intron variant NM_001408501.1:c.523+104G>T intron variant NM_001408502.1:c.454+104G>T intron variant NM_001408503.1:c.520+104G>T intron variant NM_001408504.1:c.520+104G>T intron variant NM_001408505.1:c.520+104G>T intron variant NM_001408506.1:c.460+1206G>T intron variant NM_001408507.1:c.460+1206G>T intron variant NM_001408508.1:c.451+104G>T intron variant NM_001408509.1:c.451+104G>T intron variant NM_001408510.1:c.406+104G>T intron variant NM_001408511.1:c.404-3608G>T intron variant NM_001408512.1:c.283+104G>T intron variant NM_001408513.1:c.577+104G>T intron variant NM_001408514.1:c.577+104G>T intron variant NM_007297.4:c.750G>T NP_009228.2:p.Met250Ile missense NM_007298.4:c.787+104G>T intron variant NM_007299.4:c.787+104G>T intron variant NM_007300.4:c.891G>T NP_009231.2:p.Met297Ile missense NR_027676.1:n.1027G>T NC_000017.11:g.43094640C>A NC_000017.10:g.41246657C>A NG_005905.2:g.123344G>T LRG_292:g.123344G>T LRG_292t1:c.891G>T LRG_292p1:p.Met297Ile - Protein change
- M297I, M250I, M169I, M208I, M227I, M230I, M249I, M186I, M1I, M209I, M226I, M256I, M270I, M294I, M129I, M255I, M271I, M170I, M185I, M229I, M296I
- Other names
- -
- Canonical SPDI
- NC_000017.11:43094639:C:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Benign (1) |
reviewed by expert panel
|
Jun 18, 2019 | RCV001003378.9 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Benign
(Jun 18, 2019)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV001161510.3
First in ClinVar: Feb 16, 2020 Last updated: Sep 03, 2023 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000632 (less)
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000632
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | Parsons MT | Human mutation | 2019 | PMID: 31131967 |
Text-mined citations for rs80357103 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 10, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.