This variant has not been reported in the literature in individuals with BRCA1-related conditions. This sequence change replaces aspartic acid with asparagine at codon 1851 of the BRCA1 protein (p.Asp1851Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.5551G>A (p.Asp1851Asn)
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.
(2)
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
2
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.5551G>A (p.Asp1851Asn)
Variation ID: 853644 Accession: VCV000853644.10
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045719 (GRCh38) [ NCBI UCSC ] 17: 41197736 (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 Apr 15, 2020 Feb 20, 2024 Jun 3, 2019 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5551G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1851Asn missense NM_001407571.1:c.5338G>A NP_001394500.1:p.Asp1780Asn missense NM_001407581.1:c.5617G>A NP_001394510.1:p.Asp1873Asn missense NM_001407582.1:c.5617G>A NP_001394511.1:p.Asp1873Asn missense NM_001407583.1:c.5614G>A NP_001394512.1:p.Asp1872Asn missense NM_001407585.1:c.5614G>A NP_001394514.1:p.Asp1872Asn missense NM_001407587.1:c.5614G>A NP_001394516.1:p.Asp1872Asn missense NM_001407590.1:c.5611G>A NP_001394519.1:p.Asp1871Asn missense NM_001407591.1:c.5611G>A NP_001394520.1:p.Asp1871Asn missense NM_001407593.1:c.5551G>A NP_001394522.1:p.Asp1851Asn missense NM_001407594.1:c.5551G>A NP_001394523.1:p.Asp1851Asn missense NM_001407596.1:c.5551G>A NP_001394525.1:p.Asp1851Asn missense NM_001407597.1:c.5551G>A NP_001394526.1:p.Asp1851Asn missense NM_001407598.1:c.5551G>A NP_001394527.1:p.Asp1851Asn missense NM_001407602.1:c.5551G>A NP_001394531.1:p.Asp1851Asn missense NM_001407603.1:c.5551G>A NP_001394532.1:p.Asp1851Asn missense NM_001407605.1:c.5551G>A NP_001394534.1:p.Asp1851Asn missense NM_001407610.1:c.5548G>A NP_001394539.1:p.Asp1850Asn missense NM_001407611.1:c.5548G>A NP_001394540.1:p.Asp1850Asn missense NM_001407612.1:c.5548G>A NP_001394541.1:p.Asp1850Asn missense NM_001407613.1:c.5548G>A NP_001394542.1:p.Asp1850Asn missense NM_001407614.1:c.5548G>A NP_001394543.1:p.Asp1850Asn missense NM_001407615.1:c.5548G>A NP_001394544.1:p.Asp1850Asn missense NM_001407616.1:c.5548G>A NP_001394545.1:p.Asp1850Asn missense NM_001407617.1:c.5548G>A NP_001394546.1:p.Asp1850Asn missense NM_001407618.1:c.5548G>A NP_001394547.1:p.Asp1850Asn missense NM_001407619.1:c.5548G>A NP_001394548.1:p.Asp1850Asn missense NM_001407620.1:c.5548G>A NP_001394549.1:p.Asp1850Asn missense NM_001407621.1:c.5548G>A NP_001394550.1:p.Asp1850Asn missense NM_001407622.1:c.5548G>A NP_001394551.1:p.Asp1850Asn missense NM_001407623.1:c.5548G>A NP_001394552.1:p.Asp1850Asn missense NM_001407624.1:c.5548G>A NP_001394553.1:p.Asp1850Asn missense NM_001407625.1:c.5548G>A NP_001394554.1:p.Asp1850Asn missense NM_001407626.1:c.5548G>A NP_001394555.1:p.Asp1850Asn missense NM_001407627.1:c.5545G>A NP_001394556.1:p.Asp1849Asn missense NM_001407628.1:c.5545G>A NP_001394557.1:p.Asp1849Asn missense NM_001407629.1:c.5545G>A NP_001394558.1:p.Asp1849Asn missense NM_001407630.1:c.5545G>A NP_001394559.1:p.Asp1849Asn missense NM_001407631.1:c.5545G>A NP_001394560.1:p.Asp1849Asn missense NM_001407632.1:c.5545G>A NP_001394561.1:p.Asp1849Asn missense NM_001407633.1:c.5545G>A NP_001394562.1:p.Asp1849Asn missense NM_001407634.1:c.5545G>A NP_001394563.1:p.Asp1849Asn missense NM_001407635.1:c.5545G>A NP_001394564.1:p.Asp1849Asn missense NM_001407636.1:c.5545G>A NP_001394565.1:p.Asp1849Asn missense NM_001407637.1:c.5545G>A NP_001394566.1:p.Asp1849Asn missense NM_001407638.1:c.5545G>A NP_001394567.1:p.Asp1849Asn missense NM_001407639.1:c.5545G>A NP_001394568.1:p.Asp1849Asn missense NM_001407640.1:c.5545G>A NP_001394569.1:p.Asp1849Asn missense NM_001407641.1:c.5545G>A NP_001394570.1:p.Asp1849Asn missense NM_001407642.1:c.5545G>A NP_001394571.1:p.Asp1849Asn missense NM_001407644.1:c.5542G>A NP_001394573.1:p.Asp1848Asn missense NM_001407645.1:c.5542G>A NP_001394574.1:p.Asp1848Asn missense NM_001407646.1:c.5539G>A NP_001394575.1:p.Asp1847Asn missense NM_001407647.1:c.5536G>A NP_001394576.1:p.Asp1846Asn missense NM_001407648.1:c.5494G>A NP_001394577.1:p.Asp1832Asn missense NM_001407649.1:c.5491G>A NP_001394578.1:p.Asp1831Asn missense NM_001407652.1:c.5473G>A NP_001394581.1:p.Asp1825Asn missense NM_001407653.1:c.5473G>A NP_001394582.1:p.Asp1825Asn missense NM_001407654.1:c.5473G>A NP_001394583.1:p.Asp1825Asn missense NM_001407655.1:c.5473G>A NP_001394584.1:p.Asp1825Asn missense NM_001407656.1:c.5470G>A NP_001394585.1:p.Asp1824Asn missense NM_001407657.1:c.5470G>A NP_001394586.1:p.Asp1824Asn missense NM_001407658.1:c.5470G>A NP_001394587.1:p.Asp1824Asn missense NM_001407659.1:c.5467G>A NP_001394588.1:p.Asp1823Asn missense NM_001407660.1:c.5467G>A NP_001394589.1:p.Asp1823Asn missense NM_001407661.1:c.5467G>A NP_001394590.1:p.Asp1823Asn missense NM_001407662.1:c.5467G>A NP_001394591.1:p.Asp1823Asn missense NM_001407663.1:c.5467G>A NP_001394592.1:p.Asp1823Asn missense NM_001407664.1:c.5428G>A NP_001394593.1:p.Asp1810Asn missense NM_001407665.1:c.5428G>A NP_001394594.1:p.Asp1810Asn missense NM_001407666.1:c.5428G>A NP_001394595.1:p.Asp1810Asn missense NM_001407667.1:c.5428G>A NP_001394596.1:p.Asp1810Asn missense NM_001407668.1:c.5428G>A NP_001394597.1:p.Asp1810Asn missense NM_001407669.1:c.5428G>A NP_001394598.1:p.Asp1810Asn missense NM_001407670.1:c.5425G>A NP_001394599.1:p.Asp1809Asn missense NM_001407671.1:c.5425G>A NP_001394600.1:p.Asp1809Asn missense NM_001407672.1:c.5425G>A NP_001394601.1:p.Asp1809Asn missense NM_001407673.1:c.5425G>A NP_001394602.1:p.Asp1809Asn missense NM_001407674.1:c.5425G>A NP_001394603.1:p.Asp1809Asn missense NM_001407675.1:c.5425G>A NP_001394604.1:p.Asp1809Asn missense NM_001407676.1:c.5425G>A NP_001394605.1:p.Asp1809Asn missense NM_001407677.1:c.5425G>A NP_001394606.1:p.Asp1809Asn missense NM_001407678.1:c.5425G>A NP_001394607.1:p.Asp1809Asn missense NM_001407679.1:c.5425G>A NP_001394608.1:p.Asp1809Asn missense NM_001407680.1:c.5425G>A NP_001394609.1:p.Asp1809Asn missense NM_001407681.1:c.5422G>A NP_001394610.1:p.Asp1808Asn missense NM_001407682.1:c.5422G>A NP_001394611.1:p.Asp1808Asn missense NM_001407683.1:c.5422G>A NP_001394612.1:p.Asp1808Asn missense NM_001407684.1:c.5422G>A NP_001394613.1:p.Asp1808Asn missense NM_001407685.1:c.5422G>A NP_001394614.1:p.Asp1808Asn missense NM_001407686.1:c.5422G>A NP_001394615.1:p.Asp1808Asn missense NM_001407687.1:c.5422G>A NP_001394616.1:p.Asp1808Asn missense NM_001407688.1:c.5422G>A NP_001394617.1:p.Asp1808Asn missense NM_001407689.1:c.5422G>A NP_001394618.1:p.Asp1808Asn missense NM_001407690.1:c.5419G>A NP_001394619.1:p.Asp1807Asn missense NM_001407691.1:c.5419G>A NP_001394620.1:p.Asp1807Asn missense NM_001407692.1:c.5410G>A NP_001394621.1:p.Asp1804Asn missense NM_001407694.1:c.5410G>A NP_001394623.1:p.Asp1804Asn missense NM_001407695.1:c.5410G>A NP_001394624.1:p.Asp1804Asn missense NM_001407696.1:c.5410G>A NP_001394625.1:p.Asp1804Asn missense NM_001407697.1:c.5410G>A NP_001394626.1:p.Asp1804Asn missense NM_001407698.1:c.5410G>A NP_001394627.1:p.Asp1804Asn missense NM_001407724.1:c.5410G>A NP_001394653.1:p.Asp1804Asn missense NM_001407725.1:c.5410G>A NP_001394654.1:p.Asp1804Asn missense NM_001407726.1:c.5410G>A NP_001394655.1:p.Asp1804Asn missense NM_001407727.1:c.5410G>A NP_001394656.1:p.Asp1804Asn missense NM_001407728.1:c.5410G>A NP_001394657.1:p.Asp1804Asn missense NM_001407729.1:c.5410G>A NP_001394658.1:p.Asp1804Asn missense NM_001407730.1:c.5410G>A NP_001394659.1:p.Asp1804Asn missense NM_001407731.1:c.5410G>A NP_001394660.1:p.Asp1804Asn missense NM_001407732.1:c.5407G>A NP_001394661.1:p.Asp1803Asn missense NM_001407733.1:c.5407G>A NP_001394662.1:p.Asp1803Asn missense NM_001407734.1:c.5407G>A NP_001394663.1:p.Asp1803Asn missense NM_001407735.1:c.5407G>A NP_001394664.1:p.Asp1803Asn missense NM_001407736.1:c.5407G>A NP_001394665.1:p.Asp1803Asn missense NM_001407737.1:c.5407G>A NP_001394666.1:p.Asp1803Asn missense NM_001407738.1:c.5407G>A NP_001394667.1:p.Asp1803Asn missense NM_001407739.1:c.5407G>A NP_001394668.1:p.Asp1803Asn missense NM_001407740.1:c.5407G>A NP_001394669.1:p.Asp1803Asn missense NM_001407741.1:c.5407G>A NP_001394670.1:p.Asp1803Asn missense NM_001407742.1:c.5407G>A NP_001394671.1:p.Asp1803Asn missense NM_001407743.1:c.5407G>A NP_001394672.1:p.Asp1803Asn missense NM_001407744.1:c.5407G>A NP_001394673.1:p.Asp1803Asn missense NM_001407745.1:c.5407G>A NP_001394674.1:p.Asp1803Asn missense NM_001407746.1:c.5407G>A NP_001394675.1:p.Asp1803Asn missense NM_001407747.1:c.5407G>A NP_001394676.1:p.Asp1803Asn missense NM_001407748.1:c.5407G>A NP_001394677.1:p.Asp1803Asn missense NM_001407749.1:c.5407G>A NP_001394678.1:p.Asp1803Asn missense NM_001407750.1:c.5407G>A NP_001394679.1:p.Asp1803Asn missense NM_001407751.1:c.5407G>A NP_001394680.1:p.Asp1803Asn missense NM_001407752.1:c.5407G>A NP_001394681.1:p.Asp1803Asn missense NM_001407838.1:c.5404G>A NP_001394767.1:p.Asp1802Asn missense NM_001407839.1:c.5404G>A NP_001394768.1:p.Asp1802Asn missense NM_001407841.1:c.5404G>A NP_001394770.1:p.Asp1802Asn missense NM_001407842.1:c.5404G>A NP_001394771.1:p.Asp1802Asn missense NM_001407843.1:c.5404G>A NP_001394772.1:p.Asp1802Asn missense NM_001407844.1:c.5404G>A NP_001394773.1:p.Asp1802Asn missense NM_001407845.1:c.5404G>A NP_001394774.1:p.Asp1802Asn missense NM_001407846.1:c.5404G>A NP_001394775.1:p.Asp1802Asn missense NM_001407847.1:c.5404G>A NP_001394776.1:p.Asp1802Asn missense NM_001407848.1:c.5404G>A NP_001394777.1:p.Asp1802Asn missense NM_001407849.1:c.5404G>A NP_001394778.1:p.Asp1802Asn missense NM_001407850.1:c.5404G>A NP_001394779.1:p.Asp1802Asn missense NM_001407851.1:c.5404G>A NP_001394780.1:p.Asp1802Asn missense NM_001407852.1:c.5404G>A NP_001394781.1:p.Asp1802Asn missense NM_001407853.1:c.5404G>A NP_001394782.1:p.Asp1802Asn missense NM_001407854.1:c.*65G>A NM_001407858.1:c.*65G>A NM_001407859.1:c.*65G>A NM_001407860.1:c.*65G>A NM_001407861.1:c.*65G>A NM_001407862.1:c.5350G>A NP_001394791.1:p.Asp1784Asn missense NM_001407863.1:c.5347G>A NP_001394792.1:p.Asp1783Asn missense NM_001407874.1:c.5344G>A NP_001394803.1:p.Asp1782Asn missense NM_001407875.1:c.5344G>A NP_001394804.1:p.Asp1782Asn missense NM_001407879.1:c.5341G>A NP_001394808.1:p.Asp1781Asn missense NM_001407881.1:c.5341G>A NP_001394810.1:p.Asp1781Asn missense NM_001407882.1:c.5341G>A NP_001394811.1:p.Asp1781Asn missense NM_001407884.1:c.5341G>A NP_001394813.1:p.Asp1781Asn missense NM_001407885.1:c.5341G>A NP_001394814.1:p.Asp1781Asn missense NM_001407886.1:c.5341G>A NP_001394815.1:p.Asp1781Asn missense NM_001407887.1:c.5341G>A NP_001394816.1:p.Asp1781Asn missense NM_001407889.1:c.5341G>A NP_001394818.1:p.Asp1781Asn missense NM_001407894.1:c.5338G>A NP_001394823.1:p.Asp1780Asn missense NM_001407895.1:c.5338G>A NP_001394824.1:p.Asp1780Asn missense NM_001407896.1:c.5338G>A NP_001394825.1:p.Asp1780Asn missense NM_001407897.1:c.5338G>A NP_001394826.1:p.Asp1780Asn missense NM_001407898.1:c.5338G>A NP_001394827.1:p.Asp1780Asn missense NM_001407899.1:c.5338G>A NP_001394828.1:p.Asp1780Asn missense NM_001407900.1:c.5338G>A NP_001394829.1:p.Asp1780Asn missense NM_001407902.1:c.5338G>A NP_001394831.1:p.Asp1780Asn missense NM_001407904.1:c.5338G>A NP_001394833.1:p.Asp1780Asn missense NM_001407906.1:c.5338G>A NP_001394835.1:p.Asp1780Asn missense NM_001407907.1:c.5338G>A NP_001394836.1:p.Asp1780Asn missense NM_001407908.1:c.5338G>A NP_001394837.1:p.Asp1780Asn missense NM_001407909.1:c.5338G>A NP_001394838.1:p.Asp1780Asn missense NM_001407910.1:c.5338G>A NP_001394839.1:p.Asp1780Asn missense NM_001407915.1:c.5335G>A NP_001394844.1:p.Asp1779Asn missense NM_001407916.1:c.5335G>A NP_001394845.1:p.Asp1779Asn missense NM_001407917.1:c.5335G>A NP_001394846.1:p.Asp1779Asn missense NM_001407918.1:c.5335G>A NP_001394847.1:p.Asp1779Asn missense NM_001407919.1:c.5299G>A NP_001394848.1:p.Asp1767Asn missense NM_001407920.1:c.5287G>A NP_001394849.1:p.Asp1763Asn missense NM_001407921.1:c.5287G>A NP_001394850.1:p.Asp1763Asn missense NM_001407922.1:c.5287G>A NP_001394851.1:p.Asp1763Asn missense NM_001407923.1:c.5287G>A NP_001394852.1:p.Asp1763Asn missense NM_001407924.1:c.5287G>A NP_001394853.1:p.Asp1763Asn missense NM_001407925.1:c.5287G>A NP_001394854.1:p.Asp1763Asn missense NM_001407926.1:c.5287G>A NP_001394855.1:p.Asp1763Asn missense NM_001407927.1:c.5284G>A NP_001394856.1:p.Asp1762Asn missense NM_001407928.1:c.5284G>A NP_001394857.1:p.Asp1762Asn missense NM_001407929.1:c.5284G>A NP_001394858.1:p.Asp1762Asn missense NM_001407930.1:c.5284G>A NP_001394859.1:p.Asp1762Asn missense NM_001407931.1:c.5284G>A NP_001394860.1:p.Asp1762Asn missense NM_001407932.1:c.5284G>A NP_001394861.1:p.Asp1762Asn missense NM_001407933.1:c.5284G>A NP_001394862.1:p.Asp1762Asn missense NM_001407934.1:c.5281G>A NP_001394863.1:p.Asp1761Asn missense NM_001407935.1:c.5281G>A NP_001394864.1:p.Asp1761Asn missense NM_001407936.1:c.5281G>A NP_001394865.1:p.Asp1761Asn missense NM_001407937.1:c.*65G>A NM_001407938.1:c.*65G>A NM_001407939.1:c.*65G>A NM_001407940.1:c.*65G>A NM_001407941.1:c.*65G>A NM_001407942.1:c.*65G>A NM_001407943.1:c.*65G>A NM_001407944.1:c.*65G>A NM_001407945.1:c.*65G>A NM_001407946.1:c.5218G>A NP_001394875.1:p.Asp1740Asn missense NM_001407947.1:c.5218G>A NP_001394876.1:p.Asp1740Asn missense NM_001407948.1:c.5218G>A NP_001394877.1:p.Asp1740Asn missense NM_001407949.1:c.5218G>A NP_001394878.1:p.Asp1740Asn missense NM_001407950.1:c.5215G>A NP_001394879.1:p.Asp1739Asn missense NM_001407951.1:c.5215G>A NP_001394880.1:p.Asp1739Asn missense NM_001407952.1:c.5215G>A NP_001394881.1:p.Asp1739Asn missense NM_001407953.1:c.5215G>A NP_001394882.1:p.Asp1739Asn missense NM_001407954.1:c.5215G>A NP_001394883.1:p.Asp1739Asn missense NM_001407955.1:c.5215G>A NP_001394884.1:p.Asp1739Asn missense NM_001407956.1:c.5212G>A NP_001394885.1:p.Asp1738Asn missense NM_001407957.1:c.5212G>A NP_001394886.1:p.Asp1738Asn missense NM_001407958.1:c.5212G>A NP_001394887.1:p.Asp1738Asn missense NM_001407959.1:c.5170G>A NP_001394888.1:p.Asp1724Asn missense NM_001407960.1:c.5167G>A NP_001394889.1:p.Asp1723Asn missense NM_001407962.1:c.5167G>A NP_001394891.1:p.Asp1723Asn missense NM_001407963.1:c.5164G>A NP_001394892.1:p.Asp1722Asn missense NM_001407964.1:c.5089G>A NP_001394893.1:p.Asp1697Asn missense NM_001407965.1:c.5044G>A NP_001394894.1:p.Asp1682Asn missense NM_001407966.1:c.4663G>A NP_001394895.1:p.Asp1555Asn missense NM_001407967.1:c.4660G>A NP_001394896.1:p.Asp1554Asn missense NM_001407968.1:c.2947G>A NP_001394897.1:p.Asp983Asn missense NM_001407969.1:c.2944G>A NP_001394898.1:p.Asp982Asn missense NM_001407970.1:c.2308G>A NP_001394899.1:p.Asp770Asn missense NM_001407971.1:c.2308G>A NP_001394900.1:p.Asp770Asn missense NM_001407972.1:c.2305G>A NP_001394901.1:p.Asp769Asn missense NM_001407973.1:c.2242G>A NP_001394902.1:p.Asp748Asn missense NM_001407974.1:c.2242G>A NP_001394903.1:p.Asp748Asn missense NM_001407975.1:c.2242G>A NP_001394904.1:p.Asp748Asn missense NM_001407976.1:c.2242G>A NP_001394905.1:p.Asp748Asn missense NM_001407977.1:c.2242G>A NP_001394906.1:p.Asp748Asn missense NM_001407978.1:c.2242G>A NP_001394907.1:p.Asp748Asn missense NM_001407979.1:c.2239G>A NP_001394908.1:p.Asp747Asn missense NM_001407980.1:c.2239G>A NP_001394909.1:p.Asp747Asn missense NM_001407981.1:c.2239G>A NP_001394910.1:p.Asp747Asn missense NM_001407982.1:c.2239G>A NP_001394911.1:p.Asp747Asn missense NM_001407983.1:c.2239G>A NP_001394912.1:p.Asp747Asn missense NM_001407984.1:c.2239G>A NP_001394913.1:p.Asp747Asn missense NM_001407985.1:c.2239G>A NP_001394914.1:p.Asp747Asn missense NM_001407986.1:c.2239G>A NP_001394915.1:p.Asp747Asn missense NM_001407990.1:c.2239G>A NP_001394919.1:p.Asp747Asn missense NM_001407991.1:c.2239G>A NP_001394920.1:p.Asp747Asn missense NM_001407992.1:c.2239G>A NP_001394921.1:p.Asp747Asn missense NM_001407993.1:c.2239G>A NP_001394922.1:p.Asp747Asn missense NM_001408392.1:c.2236G>A NP_001395321.1:p.Asp746Asn missense NM_001408396.1:c.2236G>A NP_001395325.1:p.Asp746Asn missense NM_001408397.1:c.2236G>A NP_001395326.1:p.Asp746Asn missense NM_001408398.1:c.2236G>A NP_001395327.1:p.Asp746Asn missense NM_001408399.1:c.2236G>A NP_001395328.1:p.Asp746Asn missense NM_001408400.1:c.2236G>A NP_001395329.1:p.Asp746Asn missense NM_001408401.1:c.2236G>A NP_001395330.1:p.Asp746Asn missense NM_001408402.1:c.2236G>A NP_001395331.1:p.Asp746Asn missense NM_001408403.1:c.2236G>A NP_001395332.1:p.Asp746Asn missense NM_001408404.1:c.2236G>A NP_001395333.1:p.Asp746Asn missense NM_001408406.1:c.2233G>A NP_001395335.1:p.Asp745Asn missense NM_001408407.1:c.2233G>A NP_001395336.1:p.Asp745Asn missense NM_001408408.1:c.2233G>A NP_001395337.1:p.Asp745Asn missense NM_001408409.1:c.2230G>A NP_001395338.1:p.Asp744Asn missense NM_001408410.1:c.2167G>A NP_001395339.1:p.Asp723Asn missense NM_001408411.1:c.2164G>A NP_001395340.1:p.Asp722Asn missense NM_001408412.1:c.2161G>A NP_001395341.1:p.Asp721Asn missense NM_001408413.1:c.2161G>A NP_001395342.1:p.Asp721Asn missense NM_001408414.1:c.2161G>A NP_001395343.1:p.Asp721Asn missense NM_001408415.1:c.2161G>A NP_001395344.1:p.Asp721Asn missense NM_001408416.1:c.2161G>A NP_001395345.1:p.Asp721Asn missense NM_001408418.1:c.2125G>A NP_001395347.1:p.Asp709Asn missense NM_001408419.1:c.2125G>A NP_001395348.1:p.Asp709Asn missense NM_001408420.1:c.2125G>A NP_001395349.1:p.Asp709Asn missense NM_001408421.1:c.2122G>A NP_001395350.1:p.Asp708Asn missense NM_001408422.1:c.2122G>A NP_001395351.1:p.Asp708Asn missense NM_001408423.1:c.2122G>A NP_001395352.1:p.Asp708Asn missense NM_001408424.1:c.2122G>A NP_001395353.1:p.Asp708Asn missense NM_001408425.1:c.2119G>A NP_001395354.1:p.Asp707Asn missense NM_001408426.1:c.2119G>A NP_001395355.1:p.Asp707Asn missense NM_001408427.1:c.2119G>A NP_001395356.1:p.Asp707Asn missense NM_001408428.1:c.2119G>A NP_001395357.1:p.Asp707Asn missense NM_001408429.1:c.2119G>A NP_001395358.1:p.Asp707Asn missense NM_001408430.1:c.2119G>A NP_001395359.1:p.Asp707Asn missense NM_001408431.1:c.2119G>A NP_001395360.1:p.Asp707Asn missense NM_001408432.1:c.2116G>A NP_001395361.1:p.Asp706Asn missense NM_001408433.1:c.2116G>A NP_001395362.1:p.Asp706Asn missense NM_001408434.1:c.2116G>A NP_001395363.1:p.Asp706Asn missense NM_001408435.1:c.2116G>A NP_001395364.1:p.Asp706Asn missense NM_001408436.1:c.2116G>A NP_001395365.1:p.Asp706Asn missense NM_001408437.1:c.2116G>A NP_001395366.1:p.Asp706Asn missense NM_001408438.1:c.2116G>A NP_001395367.1:p.Asp706Asn missense NM_001408439.1:c.2116G>A NP_001395368.1:p.Asp706Asn missense NM_001408440.1:c.2116G>A NP_001395369.1:p.Asp706Asn missense NM_001408441.1:c.2116G>A NP_001395370.1:p.Asp706Asn missense NM_001408442.1:c.2116G>A NP_001395371.1:p.Asp706Asn missense NM_001408443.1:c.2116G>A NP_001395372.1:p.Asp706Asn missense NM_001408444.1:c.2116G>A NP_001395373.1:p.Asp706Asn missense NM_001408445.1:c.2113G>A NP_001395374.1:p.Asp705Asn missense NM_001408446.1:c.2113G>A NP_001395375.1:p.Asp705Asn missense NM_001408447.1:c.2113G>A NP_001395376.1:p.Asp705Asn missense NM_001408448.1:c.2113G>A NP_001395377.1:p.Asp705Asn missense NM_001408450.1:c.2113G>A NP_001395379.1:p.Asp705Asn missense NM_001408451.1:c.2107G>A NP_001395380.1:p.Asp703Asn missense NM_001408452.1:c.2101G>A NP_001395381.1:p.Asp701Asn missense NM_001408453.1:c.2101G>A NP_001395382.1:p.Asp701Asn missense NM_001408454.1:c.2101G>A NP_001395383.1:p.Asp701Asn missense NM_001408455.1:c.2101G>A NP_001395384.1:p.Asp701Asn missense NM_001408456.1:c.2101G>A NP_001395385.1:p.Asp701Asn missense NM_001408457.1:c.2101G>A NP_001395386.1:p.Asp701Asn missense NM_001408458.1:c.2098G>A NP_001395387.1:p.Asp700Asn missense NM_001408459.1:c.2098G>A NP_001395388.1:p.Asp700Asn missense NM_001408460.1:c.2098G>A NP_001395389.1:p.Asp700Asn missense NM_001408461.1:c.2098G>A NP_001395390.1:p.Asp700Asn missense NM_001408462.1:c.2098G>A NP_001395391.1:p.Asp700Asn missense NM_001408463.1:c.2098G>A NP_001395392.1:p.Asp700Asn missense NM_001408464.1:c.2098G>A NP_001395393.1:p.Asp700Asn missense NM_001408465.1:c.2098G>A NP_001395394.1:p.Asp700Asn missense NM_001408466.1:c.2098G>A NP_001395395.1:p.Asp700Asn missense NM_001408467.1:c.2098G>A NP_001395396.1:p.Asp700Asn missense NM_001408468.1:c.2095G>A NP_001395397.1:p.Asp699Asn missense NM_001408469.1:c.2095G>A NP_001395398.1:p.Asp699Asn missense NM_001408470.1:c.2095G>A NP_001395399.1:p.Asp699Asn missense NM_001408472.1:c.*65G>A NM_001408473.1:c.*65G>A NM_001408474.1:c.2041G>A NP_001395403.1:p.Asp681Asn missense NM_001408475.1:c.2038G>A NP_001395404.1:p.Asp680Asn missense NM_001408476.1:c.2038G>A NP_001395405.1:p.Asp680Asn missense NM_001408478.1:c.2032G>A NP_001395407.1:p.Asp678Asn missense NM_001408479.1:c.2032G>A NP_001395408.1:p.Asp678Asn missense NM_001408480.1:c.2032G>A NP_001395409.1:p.Asp678Asn missense NM_001408481.1:c.2029G>A NP_001395410.1:p.Asp677Asn missense NM_001408482.1:c.2029G>A NP_001395411.1:p.Asp677Asn missense NM_001408483.1:c.2029G>A NP_001395412.1:p.Asp677Asn missense NM_001408484.1:c.2029G>A NP_001395413.1:p.Asp677Asn missense NM_001408485.1:c.2029G>A NP_001395414.1:p.Asp677Asn missense NM_001408489.1:c.2029G>A NP_001395418.1:p.Asp677Asn missense NM_001408490.1:c.2029G>A NP_001395419.1:p.Asp677Asn missense NM_001408491.1:c.2029G>A NP_001395420.1:p.Asp677Asn missense NM_001408492.1:c.2026G>A NP_001395421.1:p.Asp676Asn missense NM_001408493.1:c.2026G>A NP_001395422.1:p.Asp676Asn missense NM_001408494.1:c.2002G>A NP_001395423.1:p.Asp668Asn missense NM_001408495.1:c.1996G>A NP_001395424.1:p.Asp666Asn missense NM_001408496.1:c.1978G>A NP_001395425.1:p.Asp660Asn missense NM_001408497.1:c.1978G>A NP_001395426.1:p.Asp660Asn missense NM_001408498.1:c.1978G>A NP_001395427.1:p.Asp660Asn missense NM_001408499.1:c.1978G>A NP_001395428.1:p.Asp660Asn missense NM_001408500.1:c.1978G>A NP_001395429.1:p.Asp660Asn missense NM_001408501.1:c.1978G>A NP_001395430.1:p.Asp660Asn missense NM_001408502.1:c.1975G>A NP_001395431.1:p.Asp659Asn missense NM_001408503.1:c.1975G>A NP_001395432.1:p.Asp659Asn missense NM_001408504.1:c.1975G>A NP_001395433.1:p.Asp659Asn missense NM_001408505.1:c.1972G>A NP_001395434.1:p.Asp658Asn missense NM_001408506.1:c.1915G>A NP_001395435.1:p.Asp639Asn missense NM_001408507.1:c.1912G>A NP_001395436.1:p.Asp638Asn missense NM_001408508.1:c.1903G>A NP_001395437.1:p.Asp635Asn missense NM_001408509.1:c.1900G>A NP_001395438.1:p.Asp634Asn missense NM_001408510.1:c.1861G>A NP_001395439.1:p.Asp621Asn missense NM_001408511.1:c.1858G>A NP_001395440.1:p.Asp620Asn missense NM_001408512.1:c.1738G>A NP_001395441.1:p.Asp580Asn missense NM_001408513.1:c.1711G>A NP_001395442.1:p.Asp571Asn missense NM_001408514.1:c.1315G>A NP_001395443.1:p.Asp439Asn missense NM_007297.4:c.5410G>A NP_009228.2:p.Asp1804Asn missense NM_007298.4:c.2239G>A NP_009229.2:p.Asp747Asn missense NM_007299.4:c.*65G>A 3 prime UTR NM_007300.4:c.5614G>A NP_009231.2:p.Asp1872Asn missense NM_007304.2:c.2239G>A NP_009235.2:p.Asp747Asn missense NR_027676.2:n.5728G>A non-coding transcript variant NC_000017.11:g.43045719C>T NC_000017.10:g.41197736C>T NG_005905.2:g.172265G>A LRG_292:g.172265G>A LRG_292t1:c.5551G>A LRG_292p1:p.Asp1851Asn - Protein change
- D1851N, D1872N, D747N, D1804N, D1554N, D1682N, D1767N, D1779N, D1781N, D1783N, D1810N, D1832N, D1849N, D580N, D621N, D634N, D638N, D668N, D681N, D708N, D721N, D723N, D983N, D1723N, D1782N, D1807N, D1824N, D1831N, D1848N, D1850N, D439N, D635N, D676N, D677N, D680N, D701N, D707N, D709N, D722N, D746N, D770N, D1555N, D1722N, D1724N, D1738N, D1761N, D1780N, D1802N, D1803N, D1808N, D1809N, D1823N, D1846N, D1847N, D1873N, D620N, D659N, D660N, D700N, D703N, D705N, D706N, D745N, D769N, D1697N, D1739N, D1740N, D1762N, D1763N, D1784N, D1825N, D1871N, D571N, D639N, D658N, D666N, D678N, D699N, D744N, D748N, D982N
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045718:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_normal; Sequence Ontology [ SO:0002219]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5551G>A, a MISSENSE variant, produced a function score of -0.25, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
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
|
Jun 3, 2019 | RCV001058495.9 | |
| not provided (1) |
no classification provided
|
- | RCV001076394.3 |
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Jun 03, 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: SCV001223070.5
First in ClinVar: Apr 15, 2020 Last updated: Feb 20, 2024 |
Comment:
This variant has not been reported in the literature in individuals with BRCA1-related conditions. This sequence change replaces aspartic acid with asparagine at codon 1851 … (more)
This variant has not been reported in the literature in individuals with BRCA1-related conditions. This sequence change replaces aspartic acid with asparagine at codon 1851 of the BRCA1 protein (p.Asp1851Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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)
|
|
|
not provided
(-)
|
no classification provided
Method: in vitro
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Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001242135.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.253026438355311
|
Comment:
Germline Functional Evidence
| Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for this variant. |
Submitter
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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
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This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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functionally_normal
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Method citation(s):
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Brotman Baty Institute, University of Washington
Accession: SCV001242135.1
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Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5551G>A, a MISSENSE variant, produced a function score of -0.25, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5551G>A, a MISSENSE variant, produced a function score of -0.25, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
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Comment:
This variant has not been reported in the literature in individuals with BRCA1-related conditions. This sequence change replaces aspartic acid with asparagine at codon 1851 of the BRCA1 protein (p.Asp1851Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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| Title | Author | Journal | Year | Link |
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| Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
| https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs2050862880 ...
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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 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.