Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with asparagine at codon 1858 of the BRCA1 protein (p.Ile1858Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine. 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.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5573T>A (p.Ile1858Asn)
Germline
Classification
Help
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.
(1)
Help
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
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5573T>A (p.Ile1858Asn)
Variation ID: 851795 Accession: VCV000851795.12
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045697 (GRCh38) [ NCBI UCSC ] 17: 41197714 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Apr 15, 2020 Feb 20, 2024 Dec 13, 2019 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5573T>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile1858Asn missense NM_001407571.1:c.5360T>A NP_001394500.1:p.Ile1787Asn missense NM_001407581.1:c.5639T>A NP_001394510.1:p.Ile1880Asn missense NM_001407582.1:c.5639T>A NP_001394511.1:p.Ile1880Asn missense NM_001407583.1:c.5636T>A NP_001394512.1:p.Ile1879Asn missense NM_001407585.1:c.5636T>A NP_001394514.1:p.Ile1879Asn missense NM_001407587.1:c.5636T>A NP_001394516.1:p.Ile1879Asn missense NM_001407590.1:c.5633T>A NP_001394519.1:p.Ile1878Asn missense NM_001407591.1:c.5633T>A NP_001394520.1:p.Ile1878Asn missense NM_001407593.1:c.5573T>A NP_001394522.1:p.Ile1858Asn missense NM_001407594.1:c.5573T>A NP_001394523.1:p.Ile1858Asn missense NM_001407596.1:c.5573T>A NP_001394525.1:p.Ile1858Asn missense NM_001407597.1:c.5573T>A NP_001394526.1:p.Ile1858Asn missense NM_001407598.1:c.5573T>A NP_001394527.1:p.Ile1858Asn missense NM_001407602.1:c.5573T>A NP_001394531.1:p.Ile1858Asn missense NM_001407603.1:c.5573T>A NP_001394532.1:p.Ile1858Asn missense NM_001407605.1:c.5573T>A NP_001394534.1:p.Ile1858Asn missense NM_001407610.1:c.5570T>A NP_001394539.1:p.Ile1857Asn missense NM_001407611.1:c.5570T>A NP_001394540.1:p.Ile1857Asn missense NM_001407612.1:c.5570T>A NP_001394541.1:p.Ile1857Asn missense NM_001407613.1:c.5570T>A NP_001394542.1:p.Ile1857Asn missense NM_001407614.1:c.5570T>A NP_001394543.1:p.Ile1857Asn missense NM_001407615.1:c.5570T>A NP_001394544.1:p.Ile1857Asn missense NM_001407616.1:c.5570T>A NP_001394545.1:p.Ile1857Asn missense NM_001407617.1:c.5570T>A NP_001394546.1:p.Ile1857Asn missense NM_001407618.1:c.5570T>A NP_001394547.1:p.Ile1857Asn missense NM_001407619.1:c.5570T>A NP_001394548.1:p.Ile1857Asn missense NM_001407620.1:c.5570T>A NP_001394549.1:p.Ile1857Asn missense NM_001407621.1:c.5570T>A NP_001394550.1:p.Ile1857Asn missense NM_001407622.1:c.5570T>A NP_001394551.1:p.Ile1857Asn missense NM_001407623.1:c.5570T>A NP_001394552.1:p.Ile1857Asn missense NM_001407624.1:c.5570T>A NP_001394553.1:p.Ile1857Asn missense NM_001407625.1:c.5570T>A NP_001394554.1:p.Ile1857Asn missense NM_001407626.1:c.5570T>A NP_001394555.1:p.Ile1857Asn missense NM_001407627.1:c.5567T>A NP_001394556.1:p.Ile1856Asn missense NM_001407628.1:c.5567T>A NP_001394557.1:p.Ile1856Asn missense NM_001407629.1:c.5567T>A NP_001394558.1:p.Ile1856Asn missense NM_001407630.1:c.5567T>A NP_001394559.1:p.Ile1856Asn missense NM_001407631.1:c.5567T>A NP_001394560.1:p.Ile1856Asn missense NM_001407632.1:c.5567T>A NP_001394561.1:p.Ile1856Asn missense NM_001407633.1:c.5567T>A NP_001394562.1:p.Ile1856Asn missense NM_001407634.1:c.5567T>A NP_001394563.1:p.Ile1856Asn missense NM_001407635.1:c.5567T>A NP_001394564.1:p.Ile1856Asn missense NM_001407636.1:c.5567T>A NP_001394565.1:p.Ile1856Asn missense NM_001407637.1:c.5567T>A NP_001394566.1:p.Ile1856Asn missense NM_001407638.1:c.5567T>A NP_001394567.1:p.Ile1856Asn missense NM_001407639.1:c.5567T>A NP_001394568.1:p.Ile1856Asn missense NM_001407640.1:c.5567T>A NP_001394569.1:p.Ile1856Asn missense NM_001407641.1:c.5567T>A NP_001394570.1:p.Ile1856Asn missense NM_001407642.1:c.5567T>A NP_001394571.1:p.Ile1856Asn missense NM_001407644.1:c.5564T>A NP_001394573.1:p.Ile1855Asn missense NM_001407645.1:c.5564T>A NP_001394574.1:p.Ile1855Asn missense NM_001407646.1:c.5561T>A NP_001394575.1:p.Ile1854Asn missense NM_001407647.1:c.5558T>A NP_001394576.1:p.Ile1853Asn missense NM_001407648.1:c.5516T>A NP_001394577.1:p.Ile1839Asn missense NM_001407649.1:c.5513T>A NP_001394578.1:p.Ile1838Asn missense NM_001407652.1:c.5495T>A NP_001394581.1:p.Ile1832Asn missense NM_001407653.1:c.5495T>A NP_001394582.1:p.Ile1832Asn missense NM_001407654.1:c.5495T>A NP_001394583.1:p.Ile1832Asn missense NM_001407655.1:c.5495T>A NP_001394584.1:p.Ile1832Asn missense NM_001407656.1:c.5492T>A NP_001394585.1:p.Ile1831Asn missense NM_001407657.1:c.5492T>A NP_001394586.1:p.Ile1831Asn missense NM_001407658.1:c.5492T>A NP_001394587.1:p.Ile1831Asn missense NM_001407659.1:c.5489T>A NP_001394588.1:p.Ile1830Asn missense NM_001407660.1:c.5489T>A NP_001394589.1:p.Ile1830Asn missense NM_001407661.1:c.5489T>A NP_001394590.1:p.Ile1830Asn missense NM_001407662.1:c.5489T>A NP_001394591.1:p.Ile1830Asn missense NM_001407663.1:c.5489T>A NP_001394592.1:p.Ile1830Asn missense NM_001407664.1:c.5450T>A NP_001394593.1:p.Ile1817Asn missense NM_001407665.1:c.5450T>A NP_001394594.1:p.Ile1817Asn missense NM_001407666.1:c.5450T>A NP_001394595.1:p.Ile1817Asn missense NM_001407667.1:c.5450T>A NP_001394596.1:p.Ile1817Asn missense NM_001407668.1:c.5450T>A NP_001394597.1:p.Ile1817Asn missense NM_001407669.1:c.5450T>A NP_001394598.1:p.Ile1817Asn missense NM_001407670.1:c.5447T>A NP_001394599.1:p.Ile1816Asn missense NM_001407671.1:c.5447T>A NP_001394600.1:p.Ile1816Asn missense NM_001407672.1:c.5447T>A NP_001394601.1:p.Ile1816Asn missense NM_001407673.1:c.5447T>A NP_001394602.1:p.Ile1816Asn missense NM_001407674.1:c.5447T>A NP_001394603.1:p.Ile1816Asn missense NM_001407675.1:c.5447T>A NP_001394604.1:p.Ile1816Asn missense NM_001407676.1:c.5447T>A NP_001394605.1:p.Ile1816Asn missense NM_001407677.1:c.5447T>A NP_001394606.1:p.Ile1816Asn missense NM_001407678.1:c.5447T>A NP_001394607.1:p.Ile1816Asn missense NM_001407679.1:c.5447T>A NP_001394608.1:p.Ile1816Asn missense NM_001407680.1:c.5447T>A NP_001394609.1:p.Ile1816Asn missense NM_001407681.1:c.5444T>A NP_001394610.1:p.Ile1815Asn missense NM_001407682.1:c.5444T>A NP_001394611.1:p.Ile1815Asn missense NM_001407683.1:c.5444T>A NP_001394612.1:p.Ile1815Asn missense NM_001407684.1:c.5444T>A NP_001394613.1:p.Ile1815Asn missense NM_001407685.1:c.5444T>A NP_001394614.1:p.Ile1815Asn missense NM_001407686.1:c.5444T>A NP_001394615.1:p.Ile1815Asn missense NM_001407687.1:c.5444T>A NP_001394616.1:p.Ile1815Asn missense NM_001407688.1:c.5444T>A NP_001394617.1:p.Ile1815Asn missense NM_001407689.1:c.5444T>A NP_001394618.1:p.Ile1815Asn missense NM_001407690.1:c.5441T>A NP_001394619.1:p.Ile1814Asn missense NM_001407691.1:c.5441T>A NP_001394620.1:p.Ile1814Asn missense NM_001407692.1:c.5432T>A NP_001394621.1:p.Ile1811Asn missense NM_001407694.1:c.5432T>A NP_001394623.1:p.Ile1811Asn missense NM_001407695.1:c.5432T>A NP_001394624.1:p.Ile1811Asn missense NM_001407696.1:c.5432T>A NP_001394625.1:p.Ile1811Asn missense NM_001407697.1:c.5432T>A NP_001394626.1:p.Ile1811Asn missense NM_001407698.1:c.5432T>A NP_001394627.1:p.Ile1811Asn missense NM_001407724.1:c.5432T>A NP_001394653.1:p.Ile1811Asn missense NM_001407725.1:c.5432T>A NP_001394654.1:p.Ile1811Asn missense NM_001407726.1:c.5432T>A NP_001394655.1:p.Ile1811Asn missense NM_001407727.1:c.5432T>A NP_001394656.1:p.Ile1811Asn missense NM_001407728.1:c.5432T>A NP_001394657.1:p.Ile1811Asn missense NM_001407729.1:c.5432T>A NP_001394658.1:p.Ile1811Asn missense NM_001407730.1:c.5432T>A NP_001394659.1:p.Ile1811Asn missense NM_001407731.1:c.5432T>A NP_001394660.1:p.Ile1811Asn missense NM_001407732.1:c.5429T>A NP_001394661.1:p.Ile1810Asn missense NM_001407733.1:c.5429T>A NP_001394662.1:p.Ile1810Asn missense NM_001407734.1:c.5429T>A NP_001394663.1:p.Ile1810Asn missense NM_001407735.1:c.5429T>A NP_001394664.1:p.Ile1810Asn missense NM_001407736.1:c.5429T>A NP_001394665.1:p.Ile1810Asn missense NM_001407737.1:c.5429T>A NP_001394666.1:p.Ile1810Asn missense NM_001407738.1:c.5429T>A NP_001394667.1:p.Ile1810Asn missense NM_001407739.1:c.5429T>A NP_001394668.1:p.Ile1810Asn missense NM_001407740.1:c.5429T>A NP_001394669.1:p.Ile1810Asn missense NM_001407741.1:c.5429T>A NP_001394670.1:p.Ile1810Asn missense NM_001407742.1:c.5429T>A NP_001394671.1:p.Ile1810Asn missense NM_001407743.1:c.5429T>A NP_001394672.1:p.Ile1810Asn missense NM_001407744.1:c.5429T>A NP_001394673.1:p.Ile1810Asn missense NM_001407745.1:c.5429T>A NP_001394674.1:p.Ile1810Asn missense NM_001407746.1:c.5429T>A NP_001394675.1:p.Ile1810Asn missense NM_001407747.1:c.5429T>A NP_001394676.1:p.Ile1810Asn missense NM_001407748.1:c.5429T>A NP_001394677.1:p.Ile1810Asn missense NM_001407749.1:c.5429T>A NP_001394678.1:p.Ile1810Asn missense NM_001407750.1:c.5429T>A NP_001394679.1:p.Ile1810Asn missense NM_001407751.1:c.5429T>A NP_001394680.1:p.Ile1810Asn missense NM_001407752.1:c.5429T>A NP_001394681.1:p.Ile1810Asn missense NM_001407838.1:c.5426T>A NP_001394767.1:p.Ile1809Asn missense NM_001407839.1:c.5426T>A NP_001394768.1:p.Ile1809Asn missense NM_001407841.1:c.5426T>A NP_001394770.1:p.Ile1809Asn missense NM_001407842.1:c.5426T>A NP_001394771.1:p.Ile1809Asn missense NM_001407843.1:c.5426T>A NP_001394772.1:p.Ile1809Asn missense NM_001407844.1:c.5426T>A NP_001394773.1:p.Ile1809Asn missense NM_001407845.1:c.5426T>A NP_001394774.1:p.Ile1809Asn missense NM_001407846.1:c.5426T>A NP_001394775.1:p.Ile1809Asn missense NM_001407847.1:c.5426T>A NP_001394776.1:p.Ile1809Asn missense NM_001407848.1:c.5426T>A NP_001394777.1:p.Ile1809Asn missense NM_001407849.1:c.5426T>A NP_001394778.1:p.Ile1809Asn missense NM_001407850.1:c.5426T>A NP_001394779.1:p.Ile1809Asn missense NM_001407851.1:c.5426T>A NP_001394780.1:p.Ile1809Asn missense NM_001407852.1:c.5426T>A NP_001394781.1:p.Ile1809Asn missense NM_001407853.1:c.5426T>A NP_001394782.1:p.Ile1809Asn missense NM_001407854.1:c.*87T>A NM_001407858.1:c.*87T>A NM_001407859.1:c.*87T>A NM_001407860.1:c.*87T>A NM_001407861.1:c.*87T>A NM_001407862.1:c.5372T>A NP_001394791.1:p.Ile1791Asn missense NM_001407863.1:c.5369T>A NP_001394792.1:p.Ile1790Asn missense NM_001407874.1:c.5366T>A NP_001394803.1:p.Ile1789Asn missense NM_001407875.1:c.5366T>A NP_001394804.1:p.Ile1789Asn missense NM_001407879.1:c.5363T>A NP_001394808.1:p.Ile1788Asn missense NM_001407881.1:c.5363T>A NP_001394810.1:p.Ile1788Asn missense NM_001407882.1:c.5363T>A NP_001394811.1:p.Ile1788Asn missense NM_001407884.1:c.5363T>A NP_001394813.1:p.Ile1788Asn missense NM_001407885.1:c.5363T>A NP_001394814.1:p.Ile1788Asn missense NM_001407886.1:c.5363T>A NP_001394815.1:p.Ile1788Asn missense NM_001407887.1:c.5363T>A NP_001394816.1:p.Ile1788Asn missense NM_001407889.1:c.5363T>A NP_001394818.1:p.Ile1788Asn missense NM_001407894.1:c.5360T>A NP_001394823.1:p.Ile1787Asn missense NM_001407895.1:c.5360T>A NP_001394824.1:p.Ile1787Asn missense NM_001407896.1:c.5360T>A NP_001394825.1:p.Ile1787Asn missense NM_001407897.1:c.5360T>A NP_001394826.1:p.Ile1787Asn missense NM_001407898.1:c.5360T>A NP_001394827.1:p.Ile1787Asn missense NM_001407899.1:c.5360T>A NP_001394828.1:p.Ile1787Asn missense NM_001407900.1:c.5360T>A NP_001394829.1:p.Ile1787Asn missense NM_001407902.1:c.5360T>A NP_001394831.1:p.Ile1787Asn missense NM_001407904.1:c.5360T>A NP_001394833.1:p.Ile1787Asn missense NM_001407906.1:c.5360T>A NP_001394835.1:p.Ile1787Asn missense NM_001407907.1:c.5360T>A NP_001394836.1:p.Ile1787Asn missense NM_001407908.1:c.5360T>A NP_001394837.1:p.Ile1787Asn missense NM_001407909.1:c.5360T>A NP_001394838.1:p.Ile1787Asn missense NM_001407910.1:c.5360T>A NP_001394839.1:p.Ile1787Asn missense NM_001407915.1:c.5357T>A NP_001394844.1:p.Ile1786Asn missense NM_001407916.1:c.5357T>A NP_001394845.1:p.Ile1786Asn missense NM_001407917.1:c.5357T>A NP_001394846.1:p.Ile1786Asn missense NM_001407918.1:c.5357T>A NP_001394847.1:p.Ile1786Asn missense NM_001407919.1:c.5321T>A NP_001394848.1:p.Ile1774Asn missense NM_001407920.1:c.5309T>A NP_001394849.1:p.Ile1770Asn missense NM_001407921.1:c.5309T>A NP_001394850.1:p.Ile1770Asn missense NM_001407922.1:c.5309T>A NP_001394851.1:p.Ile1770Asn missense NM_001407923.1:c.5309T>A NP_001394852.1:p.Ile1770Asn missense NM_001407924.1:c.5309T>A NP_001394853.1:p.Ile1770Asn missense NM_001407925.1:c.5309T>A NP_001394854.1:p.Ile1770Asn missense NM_001407926.1:c.5309T>A NP_001394855.1:p.Ile1770Asn missense NM_001407927.1:c.5306T>A NP_001394856.1:p.Ile1769Asn missense NM_001407928.1:c.5306T>A NP_001394857.1:p.Ile1769Asn missense NM_001407929.1:c.5306T>A NP_001394858.1:p.Ile1769Asn missense NM_001407930.1:c.5306T>A NP_001394859.1:p.Ile1769Asn missense NM_001407931.1:c.5306T>A NP_001394860.1:p.Ile1769Asn missense NM_001407932.1:c.5306T>A NP_001394861.1:p.Ile1769Asn missense NM_001407933.1:c.5306T>A NP_001394862.1:p.Ile1769Asn missense NM_001407934.1:c.5303T>A NP_001394863.1:p.Ile1768Asn missense NM_001407935.1:c.5303T>A NP_001394864.1:p.Ile1768Asn missense NM_001407936.1:c.5303T>A NP_001394865.1:p.Ile1768Asn missense NM_001407937.1:c.*87T>A NM_001407938.1:c.*87T>A NM_001407939.1:c.*87T>A NM_001407940.1:c.*87T>A NM_001407941.1:c.*87T>A NM_001407942.1:c.*87T>A NM_001407943.1:c.*87T>A NM_001407944.1:c.*87T>A NM_001407945.1:c.*87T>A NM_001407946.1:c.5240T>A NP_001394875.1:p.Ile1747Asn missense NM_001407947.1:c.5240T>A NP_001394876.1:p.Ile1747Asn missense NM_001407948.1:c.5240T>A NP_001394877.1:p.Ile1747Asn missense NM_001407949.1:c.5240T>A NP_001394878.1:p.Ile1747Asn missense NM_001407950.1:c.5237T>A NP_001394879.1:p.Ile1746Asn missense NM_001407951.1:c.5237T>A NP_001394880.1:p.Ile1746Asn missense NM_001407952.1:c.5237T>A NP_001394881.1:p.Ile1746Asn missense NM_001407953.1:c.5237T>A NP_001394882.1:p.Ile1746Asn missense NM_001407954.1:c.5237T>A NP_001394883.1:p.Ile1746Asn missense NM_001407955.1:c.5237T>A NP_001394884.1:p.Ile1746Asn missense NM_001407956.1:c.5234T>A NP_001394885.1:p.Ile1745Asn missense NM_001407957.1:c.5234T>A NP_001394886.1:p.Ile1745Asn missense NM_001407958.1:c.5234T>A NP_001394887.1:p.Ile1745Asn missense NM_001407959.1:c.5192T>A NP_001394888.1:p.Ile1731Asn missense NM_001407960.1:c.5189T>A NP_001394889.1:p.Ile1730Asn missense NM_001407962.1:c.5189T>A NP_001394891.1:p.Ile1730Asn missense NM_001407963.1:c.5186T>A NP_001394892.1:p.Ile1729Asn missense NM_001407964.1:c.5111T>A NP_001394893.1:p.Ile1704Asn missense NM_001407965.1:c.5066T>A NP_001394894.1:p.Ile1689Asn missense NM_001407966.1:c.4685T>A NP_001394895.1:p.Ile1562Asn missense NM_001407967.1:c.4682T>A NP_001394896.1:p.Ile1561Asn missense NM_001407968.1:c.2969T>A NP_001394897.1:p.Ile990Asn missense NM_001407969.1:c.2966T>A NP_001394898.1:p.Ile989Asn missense NM_001407970.1:c.2330T>A NP_001394899.1:p.Ile777Asn missense NM_001407971.1:c.2330T>A NP_001394900.1:p.Ile777Asn missense NM_001407972.1:c.2327T>A NP_001394901.1:p.Ile776Asn missense NM_001407973.1:c.2264T>A NP_001394902.1:p.Ile755Asn missense NM_001407974.1:c.2264T>A NP_001394903.1:p.Ile755Asn missense NM_001407975.1:c.2264T>A NP_001394904.1:p.Ile755Asn missense NM_001407976.1:c.2264T>A NP_001394905.1:p.Ile755Asn missense NM_001407977.1:c.2264T>A NP_001394906.1:p.Ile755Asn missense NM_001407978.1:c.2264T>A NP_001394907.1:p.Ile755Asn missense NM_001407979.1:c.2261T>A NP_001394908.1:p.Ile754Asn missense NM_001407980.1:c.2261T>A NP_001394909.1:p.Ile754Asn missense NM_001407981.1:c.2261T>A NP_001394910.1:p.Ile754Asn missense NM_001407982.1:c.2261T>A NP_001394911.1:p.Ile754Asn missense NM_001407983.1:c.2261T>A NP_001394912.1:p.Ile754Asn missense NM_001407984.1:c.2261T>A NP_001394913.1:p.Ile754Asn missense NM_001407985.1:c.2261T>A NP_001394914.1:p.Ile754Asn missense NM_001407986.1:c.2261T>A NP_001394915.1:p.Ile754Asn missense NM_001407990.1:c.2261T>A NP_001394919.1:p.Ile754Asn missense NM_001407991.1:c.2261T>A NP_001394920.1:p.Ile754Asn missense NM_001407992.1:c.2261T>A NP_001394921.1:p.Ile754Asn missense NM_001407993.1:c.2261T>A NP_001394922.1:p.Ile754Asn missense NM_001408392.1:c.2258T>A NP_001395321.1:p.Ile753Asn missense NM_001408396.1:c.2258T>A NP_001395325.1:p.Ile753Asn missense NM_001408397.1:c.2258T>A NP_001395326.1:p.Ile753Asn missense NM_001408398.1:c.2258T>A NP_001395327.1:p.Ile753Asn missense NM_001408399.1:c.2258T>A NP_001395328.1:p.Ile753Asn missense NM_001408400.1:c.2258T>A NP_001395329.1:p.Ile753Asn missense NM_001408401.1:c.2258T>A NP_001395330.1:p.Ile753Asn missense NM_001408402.1:c.2258T>A NP_001395331.1:p.Ile753Asn missense NM_001408403.1:c.2258T>A NP_001395332.1:p.Ile753Asn missense NM_001408404.1:c.2258T>A NP_001395333.1:p.Ile753Asn missense NM_001408406.1:c.2255T>A NP_001395335.1:p.Ile752Asn missense NM_001408407.1:c.2255T>A NP_001395336.1:p.Ile752Asn missense NM_001408408.1:c.2255T>A NP_001395337.1:p.Ile752Asn missense NM_001408409.1:c.2252T>A NP_001395338.1:p.Ile751Asn missense NM_001408410.1:c.2189T>A NP_001395339.1:p.Ile730Asn missense NM_001408411.1:c.2186T>A NP_001395340.1:p.Ile729Asn missense NM_001408412.1:c.2183T>A NP_001395341.1:p.Ile728Asn missense NM_001408413.1:c.2183T>A NP_001395342.1:p.Ile728Asn missense NM_001408414.1:c.2183T>A NP_001395343.1:p.Ile728Asn missense NM_001408415.1:c.2183T>A NP_001395344.1:p.Ile728Asn missense NM_001408416.1:c.2183T>A NP_001395345.1:p.Ile728Asn missense NM_001408418.1:c.2147T>A NP_001395347.1:p.Ile716Asn missense NM_001408419.1:c.2147T>A NP_001395348.1:p.Ile716Asn missense NM_001408420.1:c.2147T>A NP_001395349.1:p.Ile716Asn missense NM_001408421.1:c.2144T>A NP_001395350.1:p.Ile715Asn missense NM_001408422.1:c.2144T>A NP_001395351.1:p.Ile715Asn missense NM_001408423.1:c.2144T>A NP_001395352.1:p.Ile715Asn missense NM_001408424.1:c.2144T>A NP_001395353.1:p.Ile715Asn missense NM_001408425.1:c.2141T>A NP_001395354.1:p.Ile714Asn missense NM_001408426.1:c.2141T>A NP_001395355.1:p.Ile714Asn missense NM_001408427.1:c.2141T>A NP_001395356.1:p.Ile714Asn missense NM_001408428.1:c.2141T>A NP_001395357.1:p.Ile714Asn missense NM_001408429.1:c.2141T>A NP_001395358.1:p.Ile714Asn missense NM_001408430.1:c.2141T>A NP_001395359.1:p.Ile714Asn missense NM_001408431.1:c.2141T>A NP_001395360.1:p.Ile714Asn missense NM_001408432.1:c.2138T>A NP_001395361.1:p.Ile713Asn missense NM_001408433.1:c.2138T>A NP_001395362.1:p.Ile713Asn missense NM_001408434.1:c.2138T>A NP_001395363.1:p.Ile713Asn missense NM_001408435.1:c.2138T>A NP_001395364.1:p.Ile713Asn missense NM_001408436.1:c.2138T>A NP_001395365.1:p.Ile713Asn missense NM_001408437.1:c.2138T>A NP_001395366.1:p.Ile713Asn missense NM_001408438.1:c.2138T>A NP_001395367.1:p.Ile713Asn missense NM_001408439.1:c.2138T>A NP_001395368.1:p.Ile713Asn missense NM_001408440.1:c.2138T>A NP_001395369.1:p.Ile713Asn missense NM_001408441.1:c.2138T>A NP_001395370.1:p.Ile713Asn missense NM_001408442.1:c.2138T>A NP_001395371.1:p.Ile713Asn missense NM_001408443.1:c.2138T>A NP_001395372.1:p.Ile713Asn missense NM_001408444.1:c.2138T>A NP_001395373.1:p.Ile713Asn missense NM_001408445.1:c.2135T>A NP_001395374.1:p.Ile712Asn missense NM_001408446.1:c.2135T>A NP_001395375.1:p.Ile712Asn missense NM_001408447.1:c.2135T>A NP_001395376.1:p.Ile712Asn missense NM_001408448.1:c.2135T>A NP_001395377.1:p.Ile712Asn missense NM_001408450.1:c.2135T>A NP_001395379.1:p.Ile712Asn missense NM_001408451.1:c.2129T>A NP_001395380.1:p.Ile710Asn missense NM_001408452.1:c.2123T>A NP_001395381.1:p.Ile708Asn missense NM_001408453.1:c.2123T>A NP_001395382.1:p.Ile708Asn missense NM_001408454.1:c.2123T>A NP_001395383.1:p.Ile708Asn missense NM_001408455.1:c.2123T>A NP_001395384.1:p.Ile708Asn missense NM_001408456.1:c.2123T>A NP_001395385.1:p.Ile708Asn missense NM_001408457.1:c.2123T>A NP_001395386.1:p.Ile708Asn missense NM_001408458.1:c.2120T>A NP_001395387.1:p.Ile707Asn missense NM_001408459.1:c.2120T>A NP_001395388.1:p.Ile707Asn missense NM_001408460.1:c.2120T>A NP_001395389.1:p.Ile707Asn missense NM_001408461.1:c.2120T>A NP_001395390.1:p.Ile707Asn missense NM_001408462.1:c.2120T>A NP_001395391.1:p.Ile707Asn missense NM_001408463.1:c.2120T>A NP_001395392.1:p.Ile707Asn missense NM_001408464.1:c.2120T>A NP_001395393.1:p.Ile707Asn missense NM_001408465.1:c.2120T>A NP_001395394.1:p.Ile707Asn missense NM_001408466.1:c.2120T>A NP_001395395.1:p.Ile707Asn missense NM_001408467.1:c.2120T>A NP_001395396.1:p.Ile707Asn missense NM_001408468.1:c.2117T>A NP_001395397.1:p.Ile706Asn missense NM_001408469.1:c.2117T>A NP_001395398.1:p.Ile706Asn missense NM_001408470.1:c.2117T>A NP_001395399.1:p.Ile706Asn missense NM_001408472.1:c.*87T>A NM_001408473.1:c.*87T>A NM_001408474.1:c.2063T>A NP_001395403.1:p.Ile688Asn missense NM_001408475.1:c.2060T>A NP_001395404.1:p.Ile687Asn missense NM_001408476.1:c.2060T>A NP_001395405.1:p.Ile687Asn missense NM_001408478.1:c.2054T>A NP_001395407.1:p.Ile685Asn missense NM_001408479.1:c.2054T>A NP_001395408.1:p.Ile685Asn missense NM_001408480.1:c.2054T>A NP_001395409.1:p.Ile685Asn missense NM_001408481.1:c.2051T>A NP_001395410.1:p.Ile684Asn missense NM_001408482.1:c.2051T>A NP_001395411.1:p.Ile684Asn missense NM_001408483.1:c.2051T>A NP_001395412.1:p.Ile684Asn missense NM_001408484.1:c.2051T>A NP_001395413.1:p.Ile684Asn missense NM_001408485.1:c.2051T>A NP_001395414.1:p.Ile684Asn missense NM_001408489.1:c.2051T>A NP_001395418.1:p.Ile684Asn missense NM_001408490.1:c.2051T>A NP_001395419.1:p.Ile684Asn missense NM_001408491.1:c.2051T>A NP_001395420.1:p.Ile684Asn missense NM_001408492.1:c.2048T>A NP_001395421.1:p.Ile683Asn missense NM_001408493.1:c.2048T>A NP_001395422.1:p.Ile683Asn missense NM_001408494.1:c.2024T>A NP_001395423.1:p.Ile675Asn missense NM_001408495.1:c.2018T>A NP_001395424.1:p.Ile673Asn missense NM_001408496.1:c.2000T>A NP_001395425.1:p.Ile667Asn missense NM_001408497.1:c.2000T>A NP_001395426.1:p.Ile667Asn missense NM_001408498.1:c.2000T>A NP_001395427.1:p.Ile667Asn missense NM_001408499.1:c.2000T>A NP_001395428.1:p.Ile667Asn missense NM_001408500.1:c.2000T>A NP_001395429.1:p.Ile667Asn missense NM_001408501.1:c.2000T>A NP_001395430.1:p.Ile667Asn missense NM_001408502.1:c.1997T>A NP_001395431.1:p.Ile666Asn missense NM_001408503.1:c.1997T>A NP_001395432.1:p.Ile666Asn missense NM_001408504.1:c.1997T>A NP_001395433.1:p.Ile666Asn missense NM_001408505.1:c.1994T>A NP_001395434.1:p.Ile665Asn missense NM_001408506.1:c.1937T>A NP_001395435.1:p.Ile646Asn missense NM_001408507.1:c.1934T>A NP_001395436.1:p.Ile645Asn missense NM_001408508.1:c.1925T>A NP_001395437.1:p.Ile642Asn missense NM_001408509.1:c.1922T>A NP_001395438.1:p.Ile641Asn missense NM_001408510.1:c.1883T>A NP_001395439.1:p.Ile628Asn missense NM_001408511.1:c.1880T>A NP_001395440.1:p.Ile627Asn missense NM_001408512.1:c.1760T>A NP_001395441.1:p.Ile587Asn missense NM_001408513.1:c.1733T>A NP_001395442.1:p.Ile578Asn missense NM_001408514.1:c.1337T>A NP_001395443.1:p.Ile446Asn missense NM_007297.4:c.5432T>A NP_009228.2:p.Ile1811Asn missense NM_007298.4:c.2261T>A NP_009229.2:p.Ile754Asn missense NM_007299.4:c.*87T>A 3 prime UTR NM_007300.4:c.5636T>A NP_009231.2:p.Ile1879Asn missense NM_007304.2:c.2261T>A NP_009235.2:p.Ile754Asn missense NR_027676.2:n.5750T>A non-coding transcript variant NC_000017.11:g.43045697A>T NC_000017.10:g.41197714A>T NG_005905.2:g.172287T>A LRG_292:g.172287T>A LRG_292t1:c.5573T>A LRG_292p1:p.Ile1858Asn - Protein change
- I1811N, I1858N, I1879N, I754N, I1562N, I1731N, I1769N, I1788N, I1830N, I1838N, I628N, I646N, I666N, I667N, I687N, I707N, I714N, I728N, I777N, I1561N, I1704N, I1729N, I1768N, I1770N, I1786N, I1789N, I1816N, I1839N, I1854N, I1857N, I641N, I673N, I710N, I712N, I730N, I755N, I990N, I1689N, I1745N, I1746N, I1787N, I1790N, I1791N, I1810N, I1817N, I1831N, I1853N, I1855N, I1880N, I446N, I683N, I684N, I685N, I708N, I713N, I716N, I729N, I752N, I989N, I1730N, I1747N, I1774N, I1809N, I1814N, I1815N, I1832N, I1856N, I1878N, I578N, I587N, I627N, I642N, I645N, I665N, I675N, I688N, I706N, I715N, I751N, I753N, I776N
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045696:A:T
-
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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
|
Dec 13, 2019 | RCV001056267.10 |
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Dec 13, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001220701.6
First in ClinVar: Apr 15, 2020 Last updated: Feb 20, 2024 |
Comment:
Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to … (more)
Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with asparagine at codon 1858 of the BRCA1 protein (p.Ile1858Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine. 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)
|
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:
Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with asparagine at codon 1858 of the BRCA1 protein (p.Ile1858Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine. 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.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs755427809 ...
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 Sep 29, 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.