The p.E1849* variant (also known as c.5545G>T), located in coding exon 22 of the BRCA1 gene, results from a G to T substitution at nucleotide position 5545. This changes the amino acid from a glutamic acid to a stop codon within coding exon 22. This pathogenic mutation impacts only the last 16 amino acids of the BRCA1 protein; however some of these amino acid residues are located in the crucial BRCT domain of the protein. As such, this variant is likely to be pathogenic.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5545G>T (p.Glu1849Ter)
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.
Likely pathogenic
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.5545G>T (p.Glu1849Ter)
Variation ID: 869030 Accession: VCV000869030.4
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43045725 (GRCh38) [ NCBI UCSC ] 17: 41197742 (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 18, 2020 May 1, 2024 Dec 27, 2017 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5545G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1849Ter nonsense NM_001407571.1:c.5332G>T NP_001394500.1:p.Glu1778Ter nonsense NM_001407581.1:c.5611G>T NP_001394510.1:p.Glu1871Ter nonsense NM_001407582.1:c.5611G>T NP_001394511.1:p.Glu1871Ter nonsense NM_001407583.1:c.5608G>T NP_001394512.1:p.Glu1870Ter nonsense NM_001407585.1:c.5608G>T NP_001394514.1:p.Glu1870Ter nonsense NM_001407587.1:c.5608G>T NP_001394516.1:p.Glu1870Ter nonsense NM_001407590.1:c.5605G>T NP_001394519.1:p.Glu1869Ter nonsense NM_001407591.1:c.5605G>T NP_001394520.1:p.Glu1869Ter nonsense NM_001407593.1:c.5545G>T NP_001394522.1:p.Glu1849Ter nonsense NM_001407594.1:c.5545G>T NP_001394523.1:p.Glu1849Ter nonsense NM_001407596.1:c.5545G>T NP_001394525.1:p.Glu1849Ter nonsense NM_001407597.1:c.5545G>T NP_001394526.1:p.Glu1849Ter nonsense NM_001407598.1:c.5545G>T NP_001394527.1:p.Glu1849Ter nonsense NM_001407602.1:c.5545G>T NP_001394531.1:p.Glu1849Ter nonsense NM_001407603.1:c.5545G>T NP_001394532.1:p.Glu1849Ter nonsense NM_001407605.1:c.5545G>T NP_001394534.1:p.Glu1849Ter nonsense NM_001407610.1:c.5542G>T NP_001394539.1:p.Glu1848Ter nonsense NM_001407611.1:c.5542G>T NP_001394540.1:p.Glu1848Ter nonsense NM_001407612.1:c.5542G>T NP_001394541.1:p.Glu1848Ter nonsense NM_001407613.1:c.5542G>T NP_001394542.1:p.Glu1848Ter nonsense NM_001407614.1:c.5542G>T NP_001394543.1:p.Glu1848Ter nonsense NM_001407615.1:c.5542G>T NP_001394544.1:p.Glu1848Ter nonsense NM_001407616.1:c.5542G>T NP_001394545.1:p.Glu1848Ter nonsense NM_001407617.1:c.5542G>T NP_001394546.1:p.Glu1848Ter nonsense NM_001407618.1:c.5542G>T NP_001394547.1:p.Glu1848Ter nonsense NM_001407619.1:c.5542G>T NP_001394548.1:p.Glu1848Ter nonsense NM_001407620.1:c.5542G>T NP_001394549.1:p.Glu1848Ter nonsense NM_001407621.1:c.5542G>T NP_001394550.1:p.Glu1848Ter nonsense NM_001407622.1:c.5542G>T NP_001394551.1:p.Glu1848Ter nonsense NM_001407623.1:c.5542G>T NP_001394552.1:p.Glu1848Ter nonsense NM_001407624.1:c.5542G>T NP_001394553.1:p.Glu1848Ter nonsense NM_001407625.1:c.5542G>T NP_001394554.1:p.Glu1848Ter nonsense NM_001407626.1:c.5542G>T NP_001394555.1:p.Glu1848Ter nonsense NM_001407627.1:c.5539G>T NP_001394556.1:p.Glu1847Ter nonsense NM_001407628.1:c.5539G>T NP_001394557.1:p.Glu1847Ter nonsense NM_001407629.1:c.5539G>T NP_001394558.1:p.Glu1847Ter nonsense NM_001407630.1:c.5539G>T NP_001394559.1:p.Glu1847Ter nonsense NM_001407631.1:c.5539G>T NP_001394560.1:p.Glu1847Ter nonsense NM_001407632.1:c.5539G>T NP_001394561.1:p.Glu1847Ter nonsense NM_001407633.1:c.5539G>T NP_001394562.1:p.Glu1847Ter nonsense NM_001407634.1:c.5539G>T NP_001394563.1:p.Glu1847Ter nonsense NM_001407635.1:c.5539G>T NP_001394564.1:p.Glu1847Ter nonsense NM_001407636.1:c.5539G>T NP_001394565.1:p.Glu1847Ter nonsense NM_001407637.1:c.5539G>T NP_001394566.1:p.Glu1847Ter nonsense NM_001407638.1:c.5539G>T NP_001394567.1:p.Glu1847Ter nonsense NM_001407639.1:c.5539G>T NP_001394568.1:p.Glu1847Ter nonsense NM_001407640.1:c.5539G>T NP_001394569.1:p.Glu1847Ter nonsense NM_001407641.1:c.5539G>T NP_001394570.1:p.Glu1847Ter nonsense NM_001407642.1:c.5539G>T NP_001394571.1:p.Glu1847Ter nonsense NM_001407644.1:c.5536G>T NP_001394573.1:p.Glu1846Ter nonsense NM_001407645.1:c.5536G>T NP_001394574.1:p.Glu1846Ter nonsense NM_001407646.1:c.5533G>T NP_001394575.1:p.Glu1845Ter nonsense NM_001407647.1:c.5530G>T NP_001394576.1:p.Glu1844Ter nonsense NM_001407648.1:c.5488G>T NP_001394577.1:p.Glu1830Ter nonsense NM_001407649.1:c.5485G>T NP_001394578.1:p.Glu1829Ter nonsense NM_001407652.1:c.5467G>T NP_001394581.1:p.Glu1823Ter nonsense NM_001407653.1:c.5467G>T NP_001394582.1:p.Glu1823Ter nonsense NM_001407654.1:c.5467G>T NP_001394583.1:p.Glu1823Ter nonsense NM_001407655.1:c.5467G>T NP_001394584.1:p.Glu1823Ter nonsense NM_001407656.1:c.5464G>T NP_001394585.1:p.Glu1822Ter nonsense NM_001407657.1:c.5464G>T NP_001394586.1:p.Glu1822Ter nonsense NM_001407658.1:c.5464G>T NP_001394587.1:p.Glu1822Ter nonsense NM_001407659.1:c.5461G>T NP_001394588.1:p.Glu1821Ter nonsense NM_001407660.1:c.5461G>T NP_001394589.1:p.Glu1821Ter nonsense NM_001407661.1:c.5461G>T NP_001394590.1:p.Glu1821Ter nonsense NM_001407662.1:c.5461G>T NP_001394591.1:p.Glu1821Ter nonsense NM_001407663.1:c.5461G>T NP_001394592.1:p.Glu1821Ter nonsense NM_001407664.1:c.5422G>T NP_001394593.1:p.Glu1808Ter nonsense NM_001407665.1:c.5422G>T NP_001394594.1:p.Glu1808Ter nonsense NM_001407666.1:c.5422G>T NP_001394595.1:p.Glu1808Ter nonsense NM_001407667.1:c.5422G>T NP_001394596.1:p.Glu1808Ter nonsense NM_001407668.1:c.5422G>T NP_001394597.1:p.Glu1808Ter nonsense NM_001407669.1:c.5422G>T NP_001394598.1:p.Glu1808Ter nonsense NM_001407670.1:c.5419G>T NP_001394599.1:p.Glu1807Ter nonsense NM_001407671.1:c.5419G>T NP_001394600.1:p.Glu1807Ter nonsense NM_001407672.1:c.5419G>T NP_001394601.1:p.Glu1807Ter nonsense NM_001407673.1:c.5419G>T NP_001394602.1:p.Glu1807Ter nonsense NM_001407674.1:c.5419G>T NP_001394603.1:p.Glu1807Ter nonsense NM_001407675.1:c.5419G>T NP_001394604.1:p.Glu1807Ter nonsense NM_001407676.1:c.5419G>T NP_001394605.1:p.Glu1807Ter nonsense NM_001407677.1:c.5419G>T NP_001394606.1:p.Glu1807Ter nonsense NM_001407678.1:c.5419G>T NP_001394607.1:p.Glu1807Ter nonsense NM_001407679.1:c.5419G>T NP_001394608.1:p.Glu1807Ter nonsense NM_001407680.1:c.5419G>T NP_001394609.1:p.Glu1807Ter nonsense NM_001407681.1:c.5416G>T NP_001394610.1:p.Glu1806Ter nonsense NM_001407682.1:c.5416G>T NP_001394611.1:p.Glu1806Ter nonsense NM_001407683.1:c.5416G>T NP_001394612.1:p.Glu1806Ter nonsense NM_001407684.1:c.5416G>T NP_001394613.1:p.Glu1806Ter nonsense NM_001407685.1:c.5416G>T NP_001394614.1:p.Glu1806Ter nonsense NM_001407686.1:c.5416G>T NP_001394615.1:p.Glu1806Ter nonsense NM_001407687.1:c.5416G>T NP_001394616.1:p.Glu1806Ter nonsense NM_001407688.1:c.5416G>T NP_001394617.1:p.Glu1806Ter nonsense NM_001407689.1:c.5416G>T NP_001394618.1:p.Glu1806Ter nonsense NM_001407690.1:c.5413G>T NP_001394619.1:p.Glu1805Ter nonsense NM_001407691.1:c.5413G>T NP_001394620.1:p.Glu1805Ter nonsense NM_001407692.1:c.5404G>T NP_001394621.1:p.Glu1802Ter nonsense NM_001407694.1:c.5404G>T NP_001394623.1:p.Glu1802Ter nonsense NM_001407695.1:c.5404G>T NP_001394624.1:p.Glu1802Ter nonsense NM_001407696.1:c.5404G>T NP_001394625.1:p.Glu1802Ter nonsense NM_001407697.1:c.5404G>T NP_001394626.1:p.Glu1802Ter nonsense NM_001407698.1:c.5404G>T NP_001394627.1:p.Glu1802Ter nonsense NM_001407724.1:c.5404G>T NP_001394653.1:p.Glu1802Ter nonsense NM_001407725.1:c.5404G>T NP_001394654.1:p.Glu1802Ter nonsense NM_001407726.1:c.5404G>T NP_001394655.1:p.Glu1802Ter nonsense NM_001407727.1:c.5404G>T NP_001394656.1:p.Glu1802Ter nonsense NM_001407728.1:c.5404G>T NP_001394657.1:p.Glu1802Ter nonsense NM_001407729.1:c.5404G>T NP_001394658.1:p.Glu1802Ter nonsense NM_001407730.1:c.5404G>T NP_001394659.1:p.Glu1802Ter nonsense NM_001407731.1:c.5404G>T NP_001394660.1:p.Glu1802Ter nonsense NM_001407732.1:c.5401G>T NP_001394661.1:p.Glu1801Ter nonsense NM_001407733.1:c.5401G>T NP_001394662.1:p.Glu1801Ter nonsense NM_001407734.1:c.5401G>T NP_001394663.1:p.Glu1801Ter nonsense NM_001407735.1:c.5401G>T NP_001394664.1:p.Glu1801Ter nonsense NM_001407736.1:c.5401G>T NP_001394665.1:p.Glu1801Ter nonsense NM_001407737.1:c.5401G>T NP_001394666.1:p.Glu1801Ter nonsense NM_001407738.1:c.5401G>T NP_001394667.1:p.Glu1801Ter nonsense NM_001407739.1:c.5401G>T NP_001394668.1:p.Glu1801Ter nonsense NM_001407740.1:c.5401G>T NP_001394669.1:p.Glu1801Ter nonsense NM_001407741.1:c.5401G>T NP_001394670.1:p.Glu1801Ter nonsense NM_001407742.1:c.5401G>T NP_001394671.1:p.Glu1801Ter nonsense NM_001407743.1:c.5401G>T NP_001394672.1:p.Glu1801Ter nonsense NM_001407744.1:c.5401G>T NP_001394673.1:p.Glu1801Ter nonsense NM_001407745.1:c.5401G>T NP_001394674.1:p.Glu1801Ter nonsense NM_001407746.1:c.5401G>T NP_001394675.1:p.Glu1801Ter nonsense NM_001407747.1:c.5401G>T NP_001394676.1:p.Glu1801Ter nonsense NM_001407748.1:c.5401G>T NP_001394677.1:p.Glu1801Ter nonsense NM_001407749.1:c.5401G>T NP_001394678.1:p.Glu1801Ter nonsense NM_001407750.1:c.5401G>T NP_001394679.1:p.Glu1801Ter nonsense NM_001407751.1:c.5401G>T NP_001394680.1:p.Glu1801Ter nonsense NM_001407752.1:c.5401G>T NP_001394681.1:p.Glu1801Ter nonsense NM_001407838.1:c.5398G>T NP_001394767.1:p.Glu1800Ter nonsense NM_001407839.1:c.5398G>T NP_001394768.1:p.Glu1800Ter nonsense NM_001407841.1:c.5398G>T NP_001394770.1:p.Glu1800Ter nonsense NM_001407842.1:c.5398G>T NP_001394771.1:p.Glu1800Ter nonsense NM_001407843.1:c.5398G>T NP_001394772.1:p.Glu1800Ter nonsense NM_001407844.1:c.5398G>T NP_001394773.1:p.Glu1800Ter nonsense NM_001407845.1:c.5398G>T NP_001394774.1:p.Glu1800Ter nonsense NM_001407846.1:c.5398G>T NP_001394775.1:p.Glu1800Ter nonsense NM_001407847.1:c.5398G>T NP_001394776.1:p.Glu1800Ter nonsense NM_001407848.1:c.5398G>T NP_001394777.1:p.Glu1800Ter nonsense NM_001407849.1:c.5398G>T NP_001394778.1:p.Glu1800Ter nonsense NM_001407850.1:c.5398G>T NP_001394779.1:p.Glu1800Ter nonsense NM_001407851.1:c.5398G>T NP_001394780.1:p.Glu1800Ter nonsense NM_001407852.1:c.5398G>T NP_001394781.1:p.Glu1800Ter nonsense NM_001407853.1:c.5398G>T NP_001394782.1:p.Glu1800Ter nonsense NM_001407854.1:c.*59G>T NM_001407858.1:c.*59G>T NM_001407859.1:c.*59G>T NM_001407860.1:c.*59G>T NM_001407861.1:c.*59G>T NM_001407862.1:c.5344G>T NP_001394791.1:p.Glu1782Ter nonsense NM_001407863.1:c.5341G>T NP_001394792.1:p.Glu1781Ter nonsense NM_001407874.1:c.5338G>T NP_001394803.1:p.Glu1780Ter nonsense NM_001407875.1:c.5338G>T NP_001394804.1:p.Glu1780Ter nonsense NM_001407879.1:c.5335G>T NP_001394808.1:p.Glu1779Ter nonsense NM_001407881.1:c.5335G>T NP_001394810.1:p.Glu1779Ter nonsense NM_001407882.1:c.5335G>T NP_001394811.1:p.Glu1779Ter nonsense NM_001407884.1:c.5335G>T NP_001394813.1:p.Glu1779Ter nonsense NM_001407885.1:c.5335G>T NP_001394814.1:p.Glu1779Ter nonsense NM_001407886.1:c.5335G>T NP_001394815.1:p.Glu1779Ter nonsense NM_001407887.1:c.5335G>T NP_001394816.1:p.Glu1779Ter nonsense NM_001407889.1:c.5335G>T NP_001394818.1:p.Glu1779Ter nonsense NM_001407894.1:c.5332G>T NP_001394823.1:p.Glu1778Ter nonsense NM_001407895.1:c.5332G>T NP_001394824.1:p.Glu1778Ter nonsense NM_001407896.1:c.5332G>T NP_001394825.1:p.Glu1778Ter nonsense NM_001407897.1:c.5332G>T NP_001394826.1:p.Glu1778Ter nonsense NM_001407898.1:c.5332G>T NP_001394827.1:p.Glu1778Ter nonsense NM_001407899.1:c.5332G>T NP_001394828.1:p.Glu1778Ter nonsense NM_001407900.1:c.5332G>T NP_001394829.1:p.Glu1778Ter nonsense NM_001407902.1:c.5332G>T NP_001394831.1:p.Glu1778Ter nonsense NM_001407904.1:c.5332G>T NP_001394833.1:p.Glu1778Ter nonsense NM_001407906.1:c.5332G>T NP_001394835.1:p.Glu1778Ter nonsense NM_001407907.1:c.5332G>T NP_001394836.1:p.Glu1778Ter nonsense NM_001407908.1:c.5332G>T NP_001394837.1:p.Glu1778Ter nonsense NM_001407909.1:c.5332G>T NP_001394838.1:p.Glu1778Ter nonsense NM_001407910.1:c.5332G>T NP_001394839.1:p.Glu1778Ter nonsense NM_001407915.1:c.5329G>T NP_001394844.1:p.Glu1777Ter nonsense NM_001407916.1:c.5329G>T NP_001394845.1:p.Glu1777Ter nonsense NM_001407917.1:c.5329G>T NP_001394846.1:p.Glu1777Ter nonsense NM_001407918.1:c.5329G>T NP_001394847.1:p.Glu1777Ter nonsense NM_001407919.1:c.5293G>T NP_001394848.1:p.Glu1765Ter nonsense NM_001407920.1:c.5281G>T NP_001394849.1:p.Glu1761Ter nonsense NM_001407921.1:c.5281G>T NP_001394850.1:p.Glu1761Ter nonsense NM_001407922.1:c.5281G>T NP_001394851.1:p.Glu1761Ter nonsense NM_001407923.1:c.5281G>T NP_001394852.1:p.Glu1761Ter nonsense NM_001407924.1:c.5281G>T NP_001394853.1:p.Glu1761Ter nonsense NM_001407925.1:c.5281G>T NP_001394854.1:p.Glu1761Ter nonsense NM_001407926.1:c.5281G>T NP_001394855.1:p.Glu1761Ter nonsense NM_001407927.1:c.5278G>T NP_001394856.1:p.Glu1760Ter nonsense NM_001407928.1:c.5278G>T NP_001394857.1:p.Glu1760Ter nonsense NM_001407929.1:c.5278G>T NP_001394858.1:p.Glu1760Ter nonsense NM_001407930.1:c.5278G>T NP_001394859.1:p.Glu1760Ter nonsense NM_001407931.1:c.5278G>T NP_001394860.1:p.Glu1760Ter nonsense NM_001407932.1:c.5278G>T NP_001394861.1:p.Glu1760Ter nonsense NM_001407933.1:c.5278G>T NP_001394862.1:p.Glu1760Ter nonsense NM_001407934.1:c.5275G>T NP_001394863.1:p.Glu1759Ter nonsense NM_001407935.1:c.5275G>T NP_001394864.1:p.Glu1759Ter nonsense NM_001407936.1:c.5275G>T NP_001394865.1:p.Glu1759Ter nonsense NM_001407937.1:c.*59G>T NM_001407938.1:c.*59G>T NM_001407939.1:c.*59G>T NM_001407940.1:c.*59G>T NM_001407941.1:c.*59G>T NM_001407942.1:c.*59G>T NM_001407943.1:c.*59G>T NM_001407944.1:c.*59G>T NM_001407945.1:c.*59G>T NM_001407946.1:c.5212G>T NP_001394875.1:p.Glu1738Ter nonsense NM_001407947.1:c.5212G>T NP_001394876.1:p.Glu1738Ter nonsense NM_001407948.1:c.5212G>T NP_001394877.1:p.Glu1738Ter nonsense NM_001407949.1:c.5212G>T NP_001394878.1:p.Glu1738Ter nonsense NM_001407950.1:c.5209G>T NP_001394879.1:p.Glu1737Ter nonsense NM_001407951.1:c.5209G>T NP_001394880.1:p.Glu1737Ter nonsense NM_001407952.1:c.5209G>T NP_001394881.1:p.Glu1737Ter nonsense NM_001407953.1:c.5209G>T NP_001394882.1:p.Glu1737Ter nonsense NM_001407954.1:c.5209G>T NP_001394883.1:p.Glu1737Ter nonsense NM_001407955.1:c.5209G>T NP_001394884.1:p.Glu1737Ter nonsense NM_001407956.1:c.5206G>T NP_001394885.1:p.Glu1736Ter nonsense NM_001407957.1:c.5206G>T NP_001394886.1:p.Glu1736Ter nonsense NM_001407958.1:c.5206G>T NP_001394887.1:p.Glu1736Ter nonsense NM_001407959.1:c.5164G>T NP_001394888.1:p.Glu1722Ter nonsense NM_001407960.1:c.5161G>T NP_001394889.1:p.Glu1721Ter nonsense NM_001407962.1:c.5161G>T NP_001394891.1:p.Glu1721Ter nonsense NM_001407963.1:c.5158G>T NP_001394892.1:p.Glu1720Ter nonsense NM_001407964.1:c.5083G>T NP_001394893.1:p.Glu1695Ter nonsense NM_001407965.1:c.5038G>T NP_001394894.1:p.Glu1680Ter nonsense NM_001407966.1:c.4657G>T NP_001394895.1:p.Glu1553Ter nonsense NM_001407967.1:c.4654G>T NP_001394896.1:p.Glu1552Ter nonsense NM_001407968.1:c.2941G>T NP_001394897.1:p.Glu981Ter nonsense NM_001407969.1:c.2938G>T NP_001394898.1:p.Glu980Ter nonsense NM_001407970.1:c.2302G>T NP_001394899.1:p.Glu768Ter nonsense NM_001407971.1:c.2302G>T NP_001394900.1:p.Glu768Ter nonsense NM_001407972.1:c.2299G>T NP_001394901.1:p.Glu767Ter nonsense NM_001407973.1:c.2236G>T NP_001394902.1:p.Glu746Ter nonsense NM_001407974.1:c.2236G>T NP_001394903.1:p.Glu746Ter nonsense NM_001407975.1:c.2236G>T NP_001394904.1:p.Glu746Ter nonsense NM_001407976.1:c.2236G>T NP_001394905.1:p.Glu746Ter nonsense NM_001407977.1:c.2236G>T NP_001394906.1:p.Glu746Ter nonsense NM_001407978.1:c.2236G>T NP_001394907.1:p.Glu746Ter nonsense NM_001407979.1:c.2233G>T NP_001394908.1:p.Glu745Ter nonsense NM_001407980.1:c.2233G>T NP_001394909.1:p.Glu745Ter nonsense NM_001407981.1:c.2233G>T NP_001394910.1:p.Glu745Ter nonsense NM_001407982.1:c.2233G>T NP_001394911.1:p.Glu745Ter nonsense NM_001407983.1:c.2233G>T NP_001394912.1:p.Glu745Ter nonsense NM_001407984.1:c.2233G>T NP_001394913.1:p.Glu745Ter nonsense NM_001407985.1:c.2233G>T NP_001394914.1:p.Glu745Ter nonsense NM_001407986.1:c.2233G>T NP_001394915.1:p.Glu745Ter nonsense NM_001407990.1:c.2233G>T NP_001394919.1:p.Glu745Ter nonsense NM_001407991.1:c.2233G>T NP_001394920.1:p.Glu745Ter nonsense NM_001407992.1:c.2233G>T NP_001394921.1:p.Glu745Ter nonsense NM_001407993.1:c.2233G>T NP_001394922.1:p.Glu745Ter nonsense NM_001408392.1:c.2230G>T NP_001395321.1:p.Glu744Ter nonsense NM_001408396.1:c.2230G>T NP_001395325.1:p.Glu744Ter nonsense NM_001408397.1:c.2230G>T NP_001395326.1:p.Glu744Ter nonsense NM_001408398.1:c.2230G>T NP_001395327.1:p.Glu744Ter nonsense NM_001408399.1:c.2230G>T NP_001395328.1:p.Glu744Ter nonsense NM_001408400.1:c.2230G>T NP_001395329.1:p.Glu744Ter nonsense NM_001408401.1:c.2230G>T NP_001395330.1:p.Glu744Ter nonsense NM_001408402.1:c.2230G>T NP_001395331.1:p.Glu744Ter nonsense NM_001408403.1:c.2230G>T NP_001395332.1:p.Glu744Ter nonsense NM_001408404.1:c.2230G>T NP_001395333.1:p.Glu744Ter nonsense NM_001408406.1:c.2227G>T NP_001395335.1:p.Glu743Ter nonsense NM_001408407.1:c.2227G>T NP_001395336.1:p.Glu743Ter nonsense NM_001408408.1:c.2227G>T NP_001395337.1:p.Glu743Ter nonsense NM_001408409.1:c.2224G>T NP_001395338.1:p.Glu742Ter nonsense NM_001408410.1:c.2161G>T NP_001395339.1:p.Glu721Ter nonsense NM_001408411.1:c.2158G>T NP_001395340.1:p.Glu720Ter nonsense NM_001408412.1:c.2155G>T NP_001395341.1:p.Glu719Ter nonsense NM_001408413.1:c.2155G>T NP_001395342.1:p.Glu719Ter nonsense NM_001408414.1:c.2155G>T NP_001395343.1:p.Glu719Ter nonsense NM_001408415.1:c.2155G>T NP_001395344.1:p.Glu719Ter nonsense NM_001408416.1:c.2155G>T NP_001395345.1:p.Glu719Ter nonsense NM_001408418.1:c.2119G>T NP_001395347.1:p.Glu707Ter nonsense NM_001408419.1:c.2119G>T NP_001395348.1:p.Glu707Ter nonsense NM_001408420.1:c.2119G>T NP_001395349.1:p.Glu707Ter nonsense NM_001408421.1:c.2116G>T NP_001395350.1:p.Glu706Ter nonsense NM_001408422.1:c.2116G>T NP_001395351.1:p.Glu706Ter nonsense NM_001408423.1:c.2116G>T NP_001395352.1:p.Glu706Ter nonsense NM_001408424.1:c.2116G>T NP_001395353.1:p.Glu706Ter nonsense NM_001408425.1:c.2113G>T NP_001395354.1:p.Glu705Ter nonsense NM_001408426.1:c.2113G>T NP_001395355.1:p.Glu705Ter nonsense NM_001408427.1:c.2113G>T NP_001395356.1:p.Glu705Ter nonsense NM_001408428.1:c.2113G>T NP_001395357.1:p.Glu705Ter nonsense NM_001408429.1:c.2113G>T NP_001395358.1:p.Glu705Ter nonsense NM_001408430.1:c.2113G>T NP_001395359.1:p.Glu705Ter nonsense NM_001408431.1:c.2113G>T NP_001395360.1:p.Glu705Ter nonsense NM_001408432.1:c.2110G>T NP_001395361.1:p.Glu704Ter nonsense NM_001408433.1:c.2110G>T NP_001395362.1:p.Glu704Ter nonsense NM_001408434.1:c.2110G>T NP_001395363.1:p.Glu704Ter nonsense NM_001408435.1:c.2110G>T NP_001395364.1:p.Glu704Ter nonsense NM_001408436.1:c.2110G>T NP_001395365.1:p.Glu704Ter nonsense NM_001408437.1:c.2110G>T NP_001395366.1:p.Glu704Ter nonsense NM_001408438.1:c.2110G>T NP_001395367.1:p.Glu704Ter nonsense NM_001408439.1:c.2110G>T NP_001395368.1:p.Glu704Ter nonsense NM_001408440.1:c.2110G>T NP_001395369.1:p.Glu704Ter nonsense NM_001408441.1:c.2110G>T NP_001395370.1:p.Glu704Ter nonsense NM_001408442.1:c.2110G>T NP_001395371.1:p.Glu704Ter nonsense NM_001408443.1:c.2110G>T NP_001395372.1:p.Glu704Ter nonsense NM_001408444.1:c.2110G>T NP_001395373.1:p.Glu704Ter nonsense NM_001408445.1:c.2107G>T NP_001395374.1:p.Glu703Ter nonsense NM_001408446.1:c.2107G>T NP_001395375.1:p.Glu703Ter nonsense NM_001408447.1:c.2107G>T NP_001395376.1:p.Glu703Ter nonsense NM_001408448.1:c.2107G>T NP_001395377.1:p.Glu703Ter nonsense NM_001408450.1:c.2107G>T NP_001395379.1:p.Glu703Ter nonsense NM_001408451.1:c.2101G>T NP_001395380.1:p.Glu701Ter nonsense NM_001408452.1:c.2095G>T NP_001395381.1:p.Glu699Ter nonsense NM_001408453.1:c.2095G>T NP_001395382.1:p.Glu699Ter nonsense NM_001408454.1:c.2095G>T NP_001395383.1:p.Glu699Ter nonsense NM_001408455.1:c.2095G>T NP_001395384.1:p.Glu699Ter nonsense NM_001408456.1:c.2095G>T NP_001395385.1:p.Glu699Ter nonsense NM_001408457.1:c.2095G>T NP_001395386.1:p.Glu699Ter nonsense NM_001408458.1:c.2092G>T NP_001395387.1:p.Glu698Ter nonsense NM_001408459.1:c.2092G>T NP_001395388.1:p.Glu698Ter nonsense NM_001408460.1:c.2092G>T NP_001395389.1:p.Glu698Ter nonsense NM_001408461.1:c.2092G>T NP_001395390.1:p.Glu698Ter nonsense NM_001408462.1:c.2092G>T NP_001395391.1:p.Glu698Ter nonsense NM_001408463.1:c.2092G>T NP_001395392.1:p.Glu698Ter nonsense NM_001408464.1:c.2092G>T NP_001395393.1:p.Glu698Ter nonsense NM_001408465.1:c.2092G>T NP_001395394.1:p.Glu698Ter nonsense NM_001408466.1:c.2092G>T NP_001395395.1:p.Glu698Ter nonsense NM_001408467.1:c.2092G>T NP_001395396.1:p.Glu698Ter nonsense NM_001408468.1:c.2089G>T NP_001395397.1:p.Glu697Ter nonsense NM_001408469.1:c.2089G>T NP_001395398.1:p.Glu697Ter nonsense NM_001408470.1:c.2089G>T NP_001395399.1:p.Glu697Ter nonsense NM_001408472.1:c.*59G>T NM_001408473.1:c.*59G>T NM_001408474.1:c.2035G>T NP_001395403.1:p.Glu679Ter nonsense NM_001408475.1:c.2032G>T NP_001395404.1:p.Glu678Ter nonsense NM_001408476.1:c.2032G>T NP_001395405.1:p.Glu678Ter nonsense NM_001408478.1:c.2026G>T NP_001395407.1:p.Glu676Ter nonsense NM_001408479.1:c.2026G>T NP_001395408.1:p.Glu676Ter nonsense NM_001408480.1:c.2026G>T NP_001395409.1:p.Glu676Ter nonsense NM_001408481.1:c.2023G>T NP_001395410.1:p.Glu675Ter nonsense NM_001408482.1:c.2023G>T NP_001395411.1:p.Glu675Ter nonsense NM_001408483.1:c.2023G>T NP_001395412.1:p.Glu675Ter nonsense NM_001408484.1:c.2023G>T NP_001395413.1:p.Glu675Ter nonsense NM_001408485.1:c.2023G>T NP_001395414.1:p.Glu675Ter nonsense NM_001408489.1:c.2023G>T NP_001395418.1:p.Glu675Ter nonsense NM_001408490.1:c.2023G>T NP_001395419.1:p.Glu675Ter nonsense NM_001408491.1:c.2023G>T NP_001395420.1:p.Glu675Ter nonsense NM_001408492.1:c.2020G>T NP_001395421.1:p.Glu674Ter nonsense NM_001408493.1:c.2020G>T NP_001395422.1:p.Glu674Ter nonsense NM_001408494.1:c.1996G>T NP_001395423.1:p.Glu666Ter nonsense NM_001408495.1:c.1990G>T NP_001395424.1:p.Glu664Ter nonsense NM_001408496.1:c.1972G>T NP_001395425.1:p.Glu658Ter nonsense NM_001408497.1:c.1972G>T NP_001395426.1:p.Glu658Ter nonsense NM_001408498.1:c.1972G>T NP_001395427.1:p.Glu658Ter nonsense NM_001408499.1:c.1972G>T NP_001395428.1:p.Glu658Ter nonsense NM_001408500.1:c.1972G>T NP_001395429.1:p.Glu658Ter nonsense NM_001408501.1:c.1972G>T NP_001395430.1:p.Glu658Ter nonsense NM_001408502.1:c.1969G>T NP_001395431.1:p.Glu657Ter nonsense NM_001408503.1:c.1969G>T NP_001395432.1:p.Glu657Ter nonsense NM_001408504.1:c.1969G>T NP_001395433.1:p.Glu657Ter nonsense NM_001408505.1:c.1966G>T NP_001395434.1:p.Glu656Ter nonsense NM_001408506.1:c.1909G>T NP_001395435.1:p.Glu637Ter nonsense NM_001408507.1:c.1906G>T NP_001395436.1:p.Glu636Ter nonsense NM_001408508.1:c.1897G>T NP_001395437.1:p.Glu633Ter nonsense NM_001408509.1:c.1894G>T NP_001395438.1:p.Glu632Ter nonsense NM_001408510.1:c.1855G>T NP_001395439.1:p.Glu619Ter nonsense NM_001408511.1:c.1852G>T NP_001395440.1:p.Glu618Ter nonsense NM_001408512.1:c.1732G>T NP_001395441.1:p.Glu578Ter nonsense NM_001408513.1:c.1705G>T NP_001395442.1:p.Glu569Ter nonsense NM_001408514.1:c.1309G>T NP_001395443.1:p.Glu437Ter nonsense NM_007297.4:c.5404G>T NP_009228.2:p.Glu1802Ter nonsense NM_007298.4:c.2233G>T NP_009229.2:p.Glu745Ter nonsense NM_007299.4:c.*59G>T 3 prime UTR NM_007300.4:c.5608G>T NP_009231.2:p.Glu1870Ter nonsense NM_007304.2:c.2233G>T NP_009235.2:p.Glu745Ter nonsense NR_027676.2:n.5722G>T non-coding transcript variant NC_000017.11:g.43045725C>A NC_000017.10:g.41197742C>A NG_005905.2:g.172259G>T LRG_292:g.172259G>T LRG_292t1:c.5545G>T LRG_292p1:p.Glu1849Ter - Protein change
- E1870*, E1802*, E1849*, E745*, E1553*, E1680*, E1720*, E1738*, E1759*, E1761*, E1782*, E1805*, E1821*, E1830*, E1845*, E1871*, E619*, E633*, E657*, E658*, E664*, E666*, E675*, E678*, E707*, E981*, E1721*, E1736*, E1737*, E1760*, E1777*, E1779*, E1780*, E1806*, E1807*, E1822*, E1846*, E1848*, E1869*, E578*, E632*, E697*, E703*, E705*, E721*, E743*, E744*, E768*, E980*, E1552*, E1695*, E1722*, E1823*, E1829*, E618*, E636*, E656*, E674*, E679*, E699*, E706*, E719*, E720*, E767*, E1765*, E1778*, E1781*, E1800*, E1801*, E1808*, E1844*, E1847*, E437*, E569*, E637*, E676*, E698*, E701*, E704*, E742*, E746*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045724:C:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_abnormal; Sequence Ontology [ SO:0002218]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5545G>T, a NONSENSE variant, produced a function score of -1.89, corresponding to a functional classification of LOSS_OF_FUNCTION. 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. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
|
- | RCV001078055.3 | |
| Likely pathogenic (1) |
criteria provided, single submitter
|
Dec 27, 2017 | RCV002348547.2 |
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. |
|
|---|---|---|---|---|---|
|
Likely pathogenic
(Dec 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002651743.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.E1849* variant (also known as c.5545G>T), located in coding exon 22 of the BRCA1 gene, results from a G to T substitution at nucleotide … (more)
The p.E1849* variant (also known as c.5545G>T), located in coding exon 22 of the BRCA1 gene, results from a G to T substitution at nucleotide position 5545. This changes the amino acid from a glutamic acid to a stop codon within coding exon 22. This pathogenic mutation impacts only the last 16 amino acids of the BRCA1 protein; however some of these amino acid residues are located in the crucial BRCT domain of the protein. As such, this variant is likely to be pathogenic. (less)
|
|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001244092.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.89461419467771
|
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
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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|---|---|---|---|---|
|
functionally_abnormal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001244092.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5545G>T, a NONSENSE variant, produced a function score of -1.89, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5545G>T, a NONSENSE variant, produced a function score of -1.89, corresponding to a functional classification of LOSS_OF_FUNCTION. 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)
|
Comment:
The p.E1849* variant (also known as c.5545G>T), located in coding exon 22 of the BRCA1 gene, results from a G to T substitution at nucleotide position 5545. This changes the amino acid from a glutamic acid to a stop codon within coding exon 22. This pathogenic mutation impacts only the last 16 amino acids of the BRCA1 protein; however some of these amino acid residues are located in the crucial BRCT domain of the protein. As such, this variant is likely to be pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
| Individualized Molecular Analyses Guide Efforts (IMAGE): A Prospective Study of Molecular Profiling of Tissue and Blood in Metastatic Triple-Negative Breast Cancer. | Parsons HA | Clinical cancer research : an official journal of the American Association for Cancer Research | 2017 | PMID: 27489289 |
| https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs2050864747 ...
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 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.