ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1802A>G (p.His601Arg)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(6); Likely benign(3)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.1802A>G (p.His601Arg)
Variation ID: 188204 Accession: VCV000188204.23
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093729 (GRCh38) [ NCBI UCSC ] 17: 41245746 (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 May 29, 2016 May 1, 2024 Jan 27, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1802A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.His601Arg missense NM_001407571.1:c.1589A>G NP_001394500.1:p.His530Arg missense NM_001407581.1:c.1802A>G NP_001394510.1:p.His601Arg missense NM_001407582.1:c.1802A>G NP_001394511.1:p.His601Arg missense NM_001407583.1:c.1802A>G NP_001394512.1:p.His601Arg missense NM_001407585.1:c.1802A>G NP_001394514.1:p.His601Arg missense NM_001407587.1:c.1799A>G NP_001394516.1:p.His600Arg missense NM_001407590.1:c.1799A>G NP_001394519.1:p.His600Arg missense NM_001407591.1:c.1799A>G NP_001394520.1:p.His600Arg missense NM_001407593.1:c.1802A>G NP_001394522.1:p.His601Arg missense NM_001407594.1:c.1802A>G NP_001394523.1:p.His601Arg missense NM_001407596.1:c.1802A>G NP_001394525.1:p.His601Arg missense NM_001407597.1:c.1802A>G NP_001394526.1:p.His601Arg missense NM_001407598.1:c.1802A>G NP_001394527.1:p.His601Arg missense NM_001407602.1:c.1802A>G NP_001394531.1:p.His601Arg missense NM_001407603.1:c.1802A>G NP_001394532.1:p.His601Arg missense NM_001407605.1:c.1802A>G NP_001394534.1:p.His601Arg missense NM_001407610.1:c.1799A>G NP_001394539.1:p.His600Arg missense NM_001407611.1:c.1799A>G NP_001394540.1:p.His600Arg missense NM_001407612.1:c.1799A>G NP_001394541.1:p.His600Arg missense NM_001407613.1:c.1799A>G NP_001394542.1:p.His600Arg missense NM_001407614.1:c.1799A>G NP_001394543.1:p.His600Arg missense NM_001407615.1:c.1799A>G NP_001394544.1:p.His600Arg missense NM_001407616.1:c.1802A>G NP_001394545.1:p.His601Arg missense NM_001407617.1:c.1802A>G NP_001394546.1:p.His601Arg missense NM_001407618.1:c.1802A>G NP_001394547.1:p.His601Arg missense NM_001407619.1:c.1802A>G NP_001394548.1:p.His601Arg missense NM_001407620.1:c.1802A>G NP_001394549.1:p.His601Arg missense NM_001407621.1:c.1802A>G NP_001394550.1:p.His601Arg missense NM_001407622.1:c.1802A>G NP_001394551.1:p.His601Arg missense NM_001407623.1:c.1802A>G NP_001394552.1:p.His601Arg missense NM_001407624.1:c.1802A>G NP_001394553.1:p.His601Arg missense NM_001407625.1:c.1802A>G NP_001394554.1:p.His601Arg missense NM_001407626.1:c.1802A>G NP_001394555.1:p.His601Arg missense NM_001407627.1:c.1799A>G NP_001394556.1:p.His600Arg missense NM_001407628.1:c.1799A>G NP_001394557.1:p.His600Arg missense NM_001407629.1:c.1799A>G NP_001394558.1:p.His600Arg missense NM_001407630.1:c.1799A>G NP_001394559.1:p.His600Arg missense NM_001407631.1:c.1799A>G NP_001394560.1:p.His600Arg missense NM_001407632.1:c.1799A>G NP_001394561.1:p.His600Arg missense NM_001407633.1:c.1799A>G NP_001394562.1:p.His600Arg missense NM_001407634.1:c.1799A>G NP_001394563.1:p.His600Arg missense NM_001407635.1:c.1799A>G NP_001394564.1:p.His600Arg missense NM_001407636.1:c.1799A>G NP_001394565.1:p.His600Arg missense NM_001407637.1:c.1799A>G NP_001394566.1:p.His600Arg missense NM_001407638.1:c.1799A>G NP_001394567.1:p.His600Arg missense NM_001407639.1:c.1802A>G NP_001394568.1:p.His601Arg missense NM_001407640.1:c.1802A>G NP_001394569.1:p.His601Arg missense NM_001407641.1:c.1802A>G NP_001394570.1:p.His601Arg missense NM_001407642.1:c.1802A>G NP_001394571.1:p.His601Arg missense NM_001407644.1:c.1799A>G NP_001394573.1:p.His600Arg missense NM_001407645.1:c.1799A>G NP_001394574.1:p.His600Arg missense NM_001407646.1:c.1793A>G NP_001394575.1:p.His598Arg missense NM_001407647.1:c.1793A>G NP_001394576.1:p.His598Arg missense NM_001407648.1:c.1679A>G NP_001394577.1:p.His560Arg missense NM_001407649.1:c.1676A>G NP_001394578.1:p.His559Arg missense NM_001407652.1:c.1802A>G NP_001394581.1:p.His601Arg missense NM_001407653.1:c.1724A>G NP_001394582.1:p.His575Arg missense NM_001407654.1:c.1724A>G NP_001394583.1:p.His575Arg missense NM_001407655.1:c.1724A>G NP_001394584.1:p.His575Arg missense NM_001407656.1:c.1724A>G NP_001394585.1:p.His575Arg missense NM_001407657.1:c.1724A>G NP_001394586.1:p.His575Arg missense NM_001407658.1:c.1724A>G NP_001394587.1:p.His575Arg missense NM_001407659.1:c.1721A>G NP_001394588.1:p.His574Arg missense NM_001407660.1:c.1721A>G NP_001394589.1:p.His574Arg missense NM_001407661.1:c.1721A>G NP_001394590.1:p.His574Arg missense NM_001407662.1:c.1721A>G NP_001394591.1:p.His574Arg missense NM_001407663.1:c.1724A>G NP_001394592.1:p.His575Arg missense NM_001407664.1:c.1679A>G NP_001394593.1:p.His560Arg missense NM_001407665.1:c.1679A>G NP_001394594.1:p.His560Arg missense NM_001407666.1:c.1679A>G NP_001394595.1:p.His560Arg missense NM_001407667.1:c.1679A>G NP_001394596.1:p.His560Arg missense NM_001407668.1:c.1679A>G NP_001394597.1:p.His560Arg missense NM_001407669.1:c.1679A>G NP_001394598.1:p.His560Arg missense NM_001407670.1:c.1676A>G NP_001394599.1:p.His559Arg missense NM_001407671.1:c.1676A>G NP_001394600.1:p.His559Arg missense NM_001407672.1:c.1676A>G NP_001394601.1:p.His559Arg missense NM_001407673.1:c.1676A>G NP_001394602.1:p.His559Arg missense NM_001407674.1:c.1679A>G NP_001394603.1:p.His560Arg missense NM_001407675.1:c.1679A>G NP_001394604.1:p.His560Arg missense NM_001407676.1:c.1679A>G NP_001394605.1:p.His560Arg missense NM_001407677.1:c.1679A>G NP_001394606.1:p.His560Arg missense NM_001407678.1:c.1679A>G NP_001394607.1:p.His560Arg missense NM_001407679.1:c.1679A>G NP_001394608.1:p.His560Arg missense NM_001407680.1:c.1679A>G NP_001394609.1:p.His560Arg missense NM_001407681.1:c.1679A>G NP_001394610.1:p.His560Arg missense NM_001407682.1:c.1679A>G NP_001394611.1:p.His560Arg missense NM_001407683.1:c.1679A>G NP_001394612.1:p.His560Arg missense NM_001407684.1:c.1802A>G NP_001394613.1:p.His601Arg missense NM_001407685.1:c.1676A>G NP_001394614.1:p.His559Arg missense NM_001407686.1:c.1676A>G NP_001394615.1:p.His559Arg missense NM_001407687.1:c.1676A>G NP_001394616.1:p.His559Arg missense NM_001407688.1:c.1676A>G NP_001394617.1:p.His559Arg missense NM_001407689.1:c.1676A>G NP_001394618.1:p.His559Arg missense NM_001407690.1:c.1676A>G NP_001394619.1:p.His559Arg missense NM_001407691.1:c.1676A>G NP_001394620.1:p.His559Arg missense NM_001407692.1:c.1661A>G NP_001394621.1:p.His554Arg missense NM_001407694.1:c.1661A>G NP_001394623.1:p.His554Arg missense NM_001407695.1:c.1661A>G NP_001394624.1:p.His554Arg missense NM_001407696.1:c.1661A>G NP_001394625.1:p.His554Arg missense NM_001407697.1:c.1661A>G NP_001394626.1:p.His554Arg missense NM_001407698.1:c.1661A>G NP_001394627.1:p.His554Arg missense NM_001407724.1:c.1661A>G NP_001394653.1:p.His554Arg missense NM_001407725.1:c.1661A>G NP_001394654.1:p.His554Arg missense NM_001407726.1:c.1661A>G NP_001394655.1:p.His554Arg missense NM_001407727.1:c.1661A>G NP_001394656.1:p.His554Arg missense NM_001407728.1:c.1661A>G NP_001394657.1:p.His554Arg missense NM_001407729.1:c.1661A>G NP_001394658.1:p.His554Arg missense NM_001407730.1:c.1661A>G NP_001394659.1:p.His554Arg missense NM_001407731.1:c.1661A>G NP_001394660.1:p.His554Arg missense NM_001407732.1:c.1661A>G NP_001394661.1:p.His554Arg missense NM_001407733.1:c.1661A>G NP_001394662.1:p.His554Arg missense NM_001407734.1:c.1661A>G NP_001394663.1:p.His554Arg missense NM_001407735.1:c.1661A>G NP_001394664.1:p.His554Arg missense NM_001407736.1:c.1661A>G NP_001394665.1:p.His554Arg missense NM_001407737.1:c.1661A>G NP_001394666.1:p.His554Arg missense NM_001407738.1:c.1661A>G NP_001394667.1:p.His554Arg missense NM_001407739.1:c.1661A>G NP_001394668.1:p.His554Arg missense NM_001407740.1:c.1658A>G NP_001394669.1:p.His553Arg missense NM_001407741.1:c.1658A>G NP_001394670.1:p.His553Arg missense NM_001407742.1:c.1658A>G NP_001394671.1:p.His553Arg missense NM_001407743.1:c.1658A>G NP_001394672.1:p.His553Arg missense NM_001407744.1:c.1658A>G NP_001394673.1:p.His553Arg missense NM_001407745.1:c.1658A>G NP_001394674.1:p.His553Arg missense NM_001407746.1:c.1658A>G NP_001394675.1:p.His553Arg missense NM_001407747.1:c.1658A>G NP_001394676.1:p.His553Arg missense NM_001407748.1:c.1658A>G NP_001394677.1:p.His553Arg missense NM_001407749.1:c.1658A>G NP_001394678.1:p.His553Arg missense NM_001407750.1:c.1661A>G NP_001394679.1:p.His554Arg missense NM_001407751.1:c.1661A>G NP_001394680.1:p.His554Arg missense NM_001407752.1:c.1661A>G NP_001394681.1:p.His554Arg missense NM_001407838.1:c.1658A>G NP_001394767.1:p.His553Arg missense NM_001407839.1:c.1658A>G NP_001394768.1:p.His553Arg missense NM_001407841.1:c.1658A>G NP_001394770.1:p.His553Arg missense NM_001407842.1:c.1658A>G NP_001394771.1:p.His553Arg missense NM_001407843.1:c.1658A>G NP_001394772.1:p.His553Arg missense NM_001407844.1:c.1658A>G NP_001394773.1:p.His553Arg missense NM_001407845.1:c.1658A>G NP_001394774.1:p.His553Arg missense NM_001407846.1:c.1658A>G NP_001394775.1:p.His553Arg missense NM_001407847.1:c.1658A>G NP_001394776.1:p.His553Arg missense NM_001407848.1:c.1658A>G NP_001394777.1:p.His553Arg missense NM_001407849.1:c.1658A>G NP_001394778.1:p.His553Arg missense NM_001407850.1:c.1661A>G NP_001394779.1:p.His554Arg missense NM_001407851.1:c.1661A>G NP_001394780.1:p.His554Arg missense NM_001407852.1:c.1661A>G NP_001394781.1:p.His554Arg missense NM_001407853.1:c.1589A>G NP_001394782.1:p.His530Arg missense NM_001407854.1:c.1802A>G NP_001394783.1:p.His601Arg missense NM_001407858.1:c.1802A>G NP_001394787.1:p.His601Arg missense NM_001407859.1:c.1802A>G NP_001394788.1:p.His601Arg missense NM_001407860.1:c.1799A>G NP_001394789.1:p.His600Arg missense NM_001407861.1:c.1799A>G NP_001394790.1:p.His600Arg missense NM_001407862.1:c.1601A>G NP_001394791.1:p.His534Arg missense NM_001407863.1:c.1679A>G NP_001394792.1:p.His560Arg missense NM_001407874.1:c.1598A>G NP_001394803.1:p.His533Arg missense NM_001407875.1:c.1598A>G NP_001394804.1:p.His533Arg missense NM_001407879.1:c.1592A>G NP_001394808.1:p.His531Arg missense NM_001407881.1:c.1592A>G NP_001394810.1:p.His531Arg missense NM_001407882.1:c.1592A>G NP_001394811.1:p.His531Arg missense NM_001407884.1:c.1592A>G NP_001394813.1:p.His531Arg missense NM_001407885.1:c.1592A>G NP_001394814.1:p.His531Arg missense NM_001407886.1:c.1592A>G NP_001394815.1:p.His531Arg missense NM_001407887.1:c.1592A>G NP_001394816.1:p.His531Arg missense NM_001407889.1:c.1592A>G NP_001394818.1:p.His531Arg missense NM_001407894.1:c.1589A>G NP_001394823.1:p.His530Arg missense NM_001407895.1:c.1589A>G NP_001394824.1:p.His530Arg missense NM_001407896.1:c.1589A>G NP_001394825.1:p.His530Arg missense NM_001407897.1:c.1589A>G NP_001394826.1:p.His530Arg missense NM_001407898.1:c.1589A>G NP_001394827.1:p.His530Arg missense NM_001407899.1:c.1589A>G NP_001394828.1:p.His530Arg missense NM_001407900.1:c.1592A>G NP_001394829.1:p.His531Arg missense NM_001407902.1:c.1592A>G NP_001394831.1:p.His531Arg missense NM_001407904.1:c.1592A>G NP_001394833.1:p.His531Arg missense NM_001407906.1:c.1592A>G NP_001394835.1:p.His531Arg missense NM_001407907.1:c.1592A>G NP_001394836.1:p.His531Arg missense NM_001407908.1:c.1592A>G NP_001394837.1:p.His531Arg missense NM_001407909.1:c.1592A>G NP_001394838.1:p.His531Arg missense NM_001407910.1:c.1592A>G NP_001394839.1:p.His531Arg missense NM_001407915.1:c.1589A>G NP_001394844.1:p.His530Arg missense NM_001407916.1:c.1589A>G NP_001394845.1:p.His530Arg missense NM_001407917.1:c.1589A>G NP_001394846.1:p.His530Arg missense NM_001407918.1:c.1589A>G NP_001394847.1:p.His530Arg missense NM_001407919.1:c.1679A>G NP_001394848.1:p.His560Arg missense NM_001407920.1:c.1538A>G NP_001394849.1:p.His513Arg missense NM_001407921.1:c.1538A>G NP_001394850.1:p.His513Arg missense NM_001407922.1:c.1538A>G NP_001394851.1:p.His513Arg missense NM_001407923.1:c.1538A>G NP_001394852.1:p.His513Arg missense NM_001407924.1:c.1538A>G NP_001394853.1:p.His513Arg missense NM_001407925.1:c.1538A>G NP_001394854.1:p.His513Arg missense NM_001407926.1:c.1538A>G NP_001394855.1:p.His513Arg missense NM_001407927.1:c.1538A>G NP_001394856.1:p.His513Arg missense NM_001407928.1:c.1538A>G NP_001394857.1:p.His513Arg missense NM_001407929.1:c.1538A>G NP_001394858.1:p.His513Arg missense NM_001407930.1:c.1535A>G NP_001394859.1:p.His512Arg missense NM_001407931.1:c.1535A>G NP_001394860.1:p.His512Arg missense NM_001407932.1:c.1535A>G NP_001394861.1:p.His512Arg missense NM_001407933.1:c.1538A>G NP_001394862.1:p.His513Arg missense NM_001407934.1:c.1535A>G NP_001394863.1:p.His512Arg missense NM_001407935.1:c.1538A>G NP_001394864.1:p.His513Arg missense NM_001407936.1:c.1535A>G NP_001394865.1:p.His512Arg missense NM_001407937.1:c.1679A>G NP_001394866.1:p.His560Arg missense NM_001407938.1:c.1679A>G NP_001394867.1:p.His560Arg missense NM_001407939.1:c.1679A>G NP_001394868.1:p.His560Arg missense NM_001407940.1:c.1676A>G NP_001394869.1:p.His559Arg missense NM_001407941.1:c.1676A>G NP_001394870.1:p.His559Arg missense NM_001407942.1:c.1661A>G NP_001394871.1:p.His554Arg missense NM_001407943.1:c.1658A>G NP_001394872.1:p.His553Arg missense NM_001407944.1:c.1661A>G NP_001394873.1:p.His554Arg missense NM_001407945.1:c.1661A>G NP_001394874.1:p.His554Arg missense NM_001407946.1:c.1469A>G NP_001394875.1:p.His490Arg missense NM_001407947.1:c.1469A>G NP_001394876.1:p.His490Arg missense NM_001407948.1:c.1469A>G NP_001394877.1:p.His490Arg missense NM_001407949.1:c.1469A>G NP_001394878.1:p.His490Arg missense NM_001407950.1:c.1469A>G NP_001394879.1:p.His490Arg missense NM_001407951.1:c.1469A>G NP_001394880.1:p.His490Arg missense NM_001407952.1:c.1469A>G NP_001394881.1:p.His490Arg missense NM_001407953.1:c.1469A>G NP_001394882.1:p.His490Arg missense NM_001407954.1:c.1466A>G NP_001394883.1:p.His489Arg missense NM_001407955.1:c.1466A>G NP_001394884.1:p.His489Arg missense NM_001407956.1:c.1466A>G NP_001394885.1:p.His489Arg missense NM_001407957.1:c.1469A>G NP_001394886.1:p.His490Arg missense NM_001407958.1:c.1466A>G NP_001394887.1:p.His489Arg missense NM_001407959.1:c.1421A>G NP_001394888.1:p.His474Arg missense NM_001407960.1:c.1421A>G NP_001394889.1:p.His474Arg missense NM_001407962.1:c.1418A>G NP_001394891.1:p.His473Arg missense NM_001407963.1:c.1421A>G NP_001394892.1:p.His474Arg missense NM_001407964.1:c.1658A>G NP_001394893.1:p.His553Arg missense NM_001407965.1:c.1298A>G NP_001394894.1:p.His433Arg missense NM_001407966.1:c.914A>G NP_001394895.1:p.His305Arg missense NM_001407967.1:c.914A>G NP_001394896.1:p.His305Arg missense NM_001407968.1:c.787+1015A>G intron variant NM_001407969.1:c.787+1015A>G intron variant NM_001407970.1:c.787+1015A>G intron variant NM_001407971.1:c.787+1015A>G intron variant NM_001407972.1:c.784+1015A>G intron variant NM_001407973.1:c.787+1015A>G intron variant NM_001407974.1:c.787+1015A>G intron variant NM_001407975.1:c.787+1015A>G intron variant NM_001407976.1:c.787+1015A>G intron variant NM_001407977.1:c.787+1015A>G intron variant NM_001407978.1:c.787+1015A>G intron variant NM_001407979.1:c.787+1015A>G intron variant NM_001407980.1:c.787+1015A>G intron variant NM_001407981.1:c.787+1015A>G intron variant NM_001407982.1:c.787+1015A>G intron variant NM_001407983.1:c.787+1015A>G intron variant NM_001407984.1:c.784+1015A>G intron variant NM_001407985.1:c.784+1015A>G intron variant NM_001407986.1:c.784+1015A>G intron variant NM_001407990.1:c.787+1015A>G intron variant NM_001407991.1:c.784+1015A>G intron variant NM_001407992.1:c.784+1015A>G intron variant NM_001407993.1:c.787+1015A>G intron variant NM_001408392.1:c.784+1015A>G intron variant NM_001408396.1:c.784+1015A>G intron variant NM_001408397.1:c.784+1015A>G intron variant NM_001408398.1:c.784+1015A>G intron variant NM_001408399.1:c.784+1015A>G intron variant NM_001408400.1:c.784+1015A>G intron variant NM_001408401.1:c.784+1015A>G intron variant NM_001408402.1:c.784+1015A>G intron variant NM_001408403.1:c.787+1015A>G intron variant NM_001408404.1:c.787+1015A>G intron variant NM_001408406.1:c.790+1012A>G intron variant NM_001408407.1:c.784+1015A>G intron variant NM_001408408.1:c.778+1015A>G intron variant NM_001408409.1:c.709+1015A>G intron variant NM_001408410.1:c.646+1015A>G intron variant NM_001408411.1:c.709+1015A>G intron variant NM_001408412.1:c.709+1015A>G intron variant NM_001408413.1:c.706+1015A>G intron variant NM_001408414.1:c.709+1015A>G intron variant NM_001408415.1:c.709+1015A>G intron variant NM_001408416.1:c.706+1015A>G intron variant NM_001408418.1:c.670+2117A>G intron variant NM_001408419.1:c.670+2117A>G intron variant NM_001408420.1:c.670+2117A>G intron variant NM_001408421.1:c.667+2117A>G intron variant NM_001408422.1:c.670+2117A>G intron variant NM_001408423.1:c.670+2117A>G intron variant NM_001408424.1:c.667+2117A>G intron variant NM_001408425.1:c.664+1015A>G intron variant NM_001408426.1:c.664+1015A>G intron variant NM_001408427.1:c.664+1015A>G intron variant NM_001408428.1:c.664+1015A>G intron variant NM_001408429.1:c.664+1015A>G intron variant NM_001408430.1:c.664+1015A>G intron variant NM_001408431.1:c.667+2117A>G intron variant NM_001408432.1:c.661+1015A>G intron variant NM_001408433.1:c.661+1015A>G intron variant NM_001408434.1:c.661+1015A>G intron variant NM_001408435.1:c.661+1015A>G intron variant NM_001408436.1:c.664+1015A>G intron variant NM_001408437.1:c.664+1015A>G intron variant NM_001408438.1:c.664+1015A>G intron variant NM_001408439.1:c.664+1015A>G intron variant NM_001408440.1:c.664+1015A>G intron variant NM_001408441.1:c.664+1015A>G intron variant NM_001408442.1:c.664+1015A>G intron variant NM_001408443.1:c.664+1015A>G intron variant NM_001408444.1:c.664+1015A>G intron variant NM_001408445.1:c.661+1015A>G intron variant NM_001408446.1:c.661+1015A>G intron variant NM_001408447.1:c.661+1015A>G intron variant NM_001408448.1:c.661+1015A>G intron variant NM_001408450.1:c.661+1015A>G intron variant NM_001408451.1:c.652+1015A>G intron variant NM_001408452.1:c.646+1015A>G intron variant NM_001408453.1:c.646+1015A>G intron variant NM_001408454.1:c.646+1015A>G intron variant NM_001408455.1:c.646+1015A>G intron variant NM_001408456.1:c.646+1015A>G intron variant NM_001408457.1:c.646+1015A>G intron variant NM_001408458.1:c.646+1015A>G intron variant NM_001408459.1:c.646+1015A>G intron variant NM_001408460.1:c.646+1015A>G intron variant NM_001408461.1:c.646+1015A>G intron variant NM_001408462.1:c.643+1015A>G intron variant NM_001408463.1:c.643+1015A>G intron variant NM_001408464.1:c.643+1015A>G intron variant NM_001408465.1:c.643+1015A>G intron variant NM_001408466.1:c.646+1015A>G intron variant NM_001408467.1:c.646+1015A>G intron variant NM_001408468.1:c.643+1015A>G intron variant NM_001408469.1:c.646+1015A>G intron variant NM_001408470.1:c.643+1015A>G intron variant NM_001408472.1:c.787+1015A>G intron variant NM_001408473.1:c.784+1015A>G intron variant NM_001408474.1:c.586+1015A>G intron variant NM_001408475.1:c.583+1015A>G intron variant NM_001408476.1:c.586+1015A>G intron variant NM_001408478.1:c.577+1015A>G intron variant NM_001408479.1:c.577+1015A>G intron variant NM_001408480.1:c.577+1015A>G intron variant NM_001408481.1:c.577+1015A>G intron variant NM_001408482.1:c.577+1015A>G intron variant NM_001408483.1:c.577+1015A>G intron variant NM_001408484.1:c.577+1015A>G intron variant NM_001408485.1:c.577+1015A>G intron variant NM_001408489.1:c.577+1015A>G intron variant NM_001408490.1:c.574+1015A>G intron variant NM_001408491.1:c.574+1015A>G intron variant NM_001408492.1:c.577+1015A>G intron variant NM_001408493.1:c.574+1015A>G intron variant NM_001408494.1:c.548-2697A>G intron variant NM_001408495.1:c.545-2697A>G intron variant NM_001408496.1:c.523+1015A>G intron variant NM_001408497.1:c.523+1015A>G intron variant NM_001408498.1:c.523+1015A>G intron variant NM_001408499.1:c.523+1015A>G intron variant NM_001408500.1:c.523+1015A>G intron variant NM_001408501.1:c.523+1015A>G intron variant NM_001408502.1:c.454+1015A>G intron variant NM_001408503.1:c.520+1015A>G intron variant NM_001408504.1:c.520+1015A>G intron variant NM_001408505.1:c.520+1015A>G intron variant NM_001408506.1:c.460+2117A>G intron variant NM_001408507.1:c.460+2117A>G intron variant NM_001408508.1:c.451+1015A>G intron variant NM_001408509.1:c.451+1015A>G intron variant NM_001408510.1:c.406+1015A>G intron variant NM_001408511.1:c.404-2697A>G intron variant NM_001408512.1:c.283+1015A>G intron variant NM_001408513.1:c.577+1015A>G intron variant NM_001408514.1:c.577+1015A>G intron variant NM_007297.4:c.1661A>G NP_009228.2:p.His554Arg missense NM_007298.4:c.787+1015A>G intron variant NM_007299.4:c.787+1015A>G intron variant NM_007300.4:c.1802A>G NP_009231.2:p.His601Arg missense NR_027676.1:n.1938A>G NC_000017.11:g.43093729T>C NC_000017.10:g.41245746T>C NG_005905.2:g.124255A>G LRG_292:g.124255A>G LRG_292t1:c.1802A>G LRG_292p1:p.His601Arg - Protein change
- H601R, H554R, H305R, H474R, H490R, H530R, H553R, H575R, H489R, H512R, H533R, H560R, H574R, H433R, H513R, H534R, H600R, H473R, H531R, H559R, H598R
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093728:T:C
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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.
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00009
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 | ||
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 |
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. |
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Uncertain significance (1) |
criteria provided, single submitter
|
Jan 27, 2024 | RCV000168128.14 | |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
|
Mar 23, 2023 | RCV000220587.12 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Aug 8, 2023 | RCV000587213.10 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Mar 12, 2018 | RCV000663081.4 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Jul 10, 2023 | RCV003323423.3 |
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. |
|
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Likely benign
(Apr 14, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000273305.5
First in ClinVar: May 29, 2016 Last updated: May 01, 2024 |
Comment:
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 … (more)
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. (less)
|
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Likely benign
(Jan 22, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001346477.1
First in ClinVar: Mar 25, 2020 Last updated: Mar 25, 2020 |
|
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Likely benign
(Mar 23, 2023)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003849725.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Comment:
BRCA1 coldspot (exon 11 using historical exon numbering). Reclassification based on statistical prior probability
|
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
|
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Uncertain significance
(Jul 10, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698887.2
First in ClinVar: Mar 17, 2018 Last updated: Aug 26, 2023 |
Comment:
Variant summary: BRCA1 c.1802A>G (p.His601Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.1802A>G (p.His601Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251246 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1802A>G has been reported in the literature in 3 unaffected African American sisters and was not present in their 2 affected sisters with Breast Cancer (McKean-Cowdin_2005) and was not observed to segregate with disease. This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eight submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Multiple submitters reported the variant with VUS (n=5) or likely benign (n=3) assessments. Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
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Uncertain significance
(Jan 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001469375.2
First in ClinVar: Jan 26, 2021 Last updated: Jan 06, 2024 |
Comment:
The frequency of this variant in the general population, 0.00012 (3/24892 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the … (more)
The frequency of this variant in the general population, 0.00012 (3/24892 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in a family where three sisters that carried the variant did not have a personal history of cancer, and two sisters that did not carry the variant were affected with breast cancer (PMID: 15726418 (2005)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant. (less)
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Uncertain significance
(Jan 27, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000218786.11
First in ClinVar: Mar 29, 2015 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 601 of the BRCA1 protein (p.His601Arg). … (more)
This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 601 of the BRCA1 protein (p.His601Arg). This variant is present in population databases (rs371631805, gnomAD 0.008%). This missense change has been observed in individual(s) with breast cancer (PMID: 15726418). ClinVar contains an entry for this variant (Variation ID: 188204). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(Mar 12, 2018)
|
criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000786164.2
First in ClinVar: Jul 15, 2018 Last updated: Jul 15, 2018 |
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Uncertain significance
(Dec 13, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538051.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
To the best of our knowledge, the BRCA1 c.1802A>G (p.H601R) variant has not been reported in individuals with BRCA1-related disease. This variant was observed in … (more)
To the best of our knowledge, the BRCA1 c.1802A>G (p.H601R) variant has not been reported in individuals with BRCA1-related disease. This variant was observed in 3/24892 chromosomes of the African/African American supopulation according to the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). This variant has been reported in ClinVar (Variation ID: 188204). Functional studies have not been performed, and in silico predictions of the variant's effect on protein function are inconclusive. The evidence is insufficient to meet ACMG/AMP criteria for classifying the variant as benign or pathogenic. Thus, the clinical significance of this variant is currently uncertain. (less)
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Uncertain significance
(Aug 08, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV001982223.3
First in ClinVar: Oct 30, 2021 Last updated: Aug 18, 2023 |
Comment:
Observed in a familial breast cancer kindred, but did not segregate with disease (McKean-Cowdin et al., 2005); Not observed at significant frequency in large population … (more)
Observed in a familial breast cancer kindred, but did not segregate with disease (McKean-Cowdin et al., 2005); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 1921A>G; This variant is associated with the following publications: (PMID: 15726418, 15343273, 32377563, 29884841) (less)
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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. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
BRCA1 variants in a family study of African-American and Latina women. | McKean-Cowdin R | Human genetics | 2005 | PMID: 15726418 |
Text-mined citations for rs371631805 ...
HelpRecord last updated Oct 08, 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.