The c.5354_5355delAGinsCC variant (also known as p.Q1785P), located in coding exon 20 of the BRCA1 gene, results from an in-frame deletion of AG and insertion of CC at nucleotide positions 5354 to 5355. This results in the substitution of the glutamine residue for a proline residue at codon 1785, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5354_5355delinsCC (p.Gln1785Pro)
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)
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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
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NM_007294.4(BRCA1):c.5354_5355delinsCC (p.Gln1785Pro)
Variation ID: 1747022 Accession: VCV001747022.2
- Type and length
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Indel, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43049172-43049173 (GRCh38) [ NCBI UCSC ] 17: 41201189-41201190 (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 Nov 29, 2022 May 1, 2024 Dec 21, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5354_5355delinsCC MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1785Pro missense NM_001407571.1:c.5141_5142delAGinsCC NP_001394500.1:p.Gln1714Pro missense NM_001407581.1:c.5420_5421delAGinsCC NP_001394510.1:p.Gln1807Pro missense NM_001407582.1:c.5420_5421delAGinsCC NP_001394511.1:p.Gln1807Pro missense NM_001407583.1:c.5417_5418delAGinsCC NP_001394512.1:p.Gln1806Pro missense NM_001407585.1:c.5417_5418delAGinsCC NP_001394514.1:p.Gln1806Pro missense NM_001407587.1:c.5417_5418delAGinsCC NP_001394516.1:p.Gln1806Pro missense NM_001407590.1:c.5414_5415delAGinsCC NP_001394519.1:p.Gln1805Pro missense NM_001407591.1:c.5414_5415delAGinsCC NP_001394520.1:p.Gln1805Pro missense NM_001407593.1:c.5354_5355delAGinsCC NP_001394522.1:p.Gln1785Pro missense NM_001407594.1:c.5354_5355delAGinsCC NP_001394523.1:p.Gln1785Pro missense NM_001407596.1:c.5354_5355delAGinsCC NP_001394525.1:p.Gln1785Pro missense NM_001407597.1:c.5354_5355delAGinsCC NP_001394526.1:p.Gln1785Pro missense NM_001407598.1:c.5354_5355delAGinsCC NP_001394527.1:p.Gln1785Pro missense NM_001407602.1:c.5354_5355delAGinsCC NP_001394531.1:p.Gln1785Pro missense NM_001407603.1:c.5354_5355delAGinsCC NP_001394532.1:p.Gln1785Pro missense NM_001407605.1:c.5354_5355delAGinsCC NP_001394534.1:p.Gln1785Pro missense NM_001407610.1:c.5351_5352delAGinsCC NP_001394539.1:p.Gln1784Pro missense NM_001407611.1:c.5351_5352delAGinsCC NP_001394540.1:p.Gln1784Pro missense NM_001407612.1:c.5351_5352delAGinsCC NP_001394541.1:p.Gln1784Pro missense NM_001407613.1:c.5351_5352delAGinsCC NP_001394542.1:p.Gln1784Pro missense NM_001407614.1:c.5351_5352delAGinsCC NP_001394543.1:p.Gln1784Pro missense NM_001407615.1:c.5351_5352delAGinsCC NP_001394544.1:p.Gln1784Pro missense NM_001407616.1:c.5351_5352delAGinsCC NP_001394545.1:p.Gln1784Pro missense NM_001407617.1:c.5351_5352delAGinsCC NP_001394546.1:p.Gln1784Pro missense NM_001407618.1:c.5351_5352delAGinsCC NP_001394547.1:p.Gln1784Pro missense NM_001407619.1:c.5351_5352delAGinsCC NP_001394548.1:p.Gln1784Pro missense NM_001407620.1:c.5351_5352delAGinsCC NP_001394549.1:p.Gln1784Pro missense NM_001407621.1:c.5351_5352delAGinsCC NP_001394550.1:p.Gln1784Pro missense NM_001407622.1:c.5351_5352delAGinsCC NP_001394551.1:p.Gln1784Pro missense NM_001407623.1:c.5351_5352delAGinsCC NP_001394552.1:p.Gln1784Pro missense NM_001407624.1:c.5351_5352delAGinsCC NP_001394553.1:p.Gln1784Pro missense NM_001407625.1:c.5351_5352delAGinsCC NP_001394554.1:p.Gln1784Pro missense NM_001407626.1:c.5351_5352delAGinsCC NP_001394555.1:p.Gln1784Pro missense NM_001407627.1:c.5348_5349delAGinsCC NP_001394556.1:p.Gln1783Pro missense NM_001407628.1:c.5348_5349delAGinsCC NP_001394557.1:p.Gln1783Pro missense NM_001407629.1:c.5348_5349delAGinsCC NP_001394558.1:p.Gln1783Pro missense NM_001407630.1:c.5348_5349delAGinsCC NP_001394559.1:p.Gln1783Pro missense NM_001407631.1:c.5348_5349delAGinsCC NP_001394560.1:p.Gln1783Pro missense NM_001407632.1:c.5348_5349delAGinsCC NP_001394561.1:p.Gln1783Pro missense NM_001407633.1:c.5348_5349delAGinsCC NP_001394562.1:p.Gln1783Pro missense NM_001407634.1:c.5348_5349delAGinsCC NP_001394563.1:p.Gln1783Pro missense NM_001407635.1:c.5348_5349delAGinsCC NP_001394564.1:p.Gln1783Pro missense NM_001407636.1:c.5348_5349delAGinsCC NP_001394565.1:p.Gln1783Pro missense NM_001407637.1:c.5348_5349delAGinsCC NP_001394566.1:p.Gln1783Pro missense NM_001407638.1:c.5348_5349delAGinsCC NP_001394567.1:p.Gln1783Pro missense NM_001407639.1:c.5348_5349delAGinsCC NP_001394568.1:p.Gln1783Pro missense NM_001407640.1:c.5348_5349delAGinsCC NP_001394569.1:p.Gln1783Pro missense NM_001407641.1:c.5348_5349delAGinsCC NP_001394570.1:p.Gln1783Pro missense NM_001407642.1:c.5348_5349delAGinsCC NP_001394571.1:p.Gln1783Pro missense NM_001407644.1:c.5345_5346delAGinsCC NP_001394573.1:p.Gln1782Pro missense NM_001407645.1:c.5345_5346delAGinsCC NP_001394574.1:p.Gln1782Pro missense NM_001407646.1:c.5342_5343delAGinsCC NP_001394575.1:p.Gln1781Pro missense NM_001407647.1:c.5339_5340delAGinsCC NP_001394576.1:p.Gln1780Pro missense NM_001407648.1:c.5297_5298delAGinsCC NP_001394577.1:p.Gln1766Pro missense NM_001407649.1:c.5294_5295delAGinsCC NP_001394578.1:p.Gln1765Pro missense NM_001407652.1:c.5276_5277delAGinsCC NP_001394581.1:p.Gln1759Pro missense NM_001407653.1:c.5276_5277delAGinsCC NP_001394582.1:p.Gln1759Pro missense NM_001407654.1:c.5276_5277delAGinsCC NP_001394583.1:p.Gln1759Pro missense NM_001407655.1:c.5276_5277delAGinsCC NP_001394584.1:p.Gln1759Pro missense NM_001407656.1:c.5273_5274delAGinsCC NP_001394585.1:p.Gln1758Pro missense NM_001407657.1:c.5273_5274delAGinsCC NP_001394586.1:p.Gln1758Pro missense NM_001407658.1:c.5273_5274delAGinsCC NP_001394587.1:p.Gln1758Pro missense NM_001407659.1:c.5270_5271delAGinsCC NP_001394588.1:p.Gln1757Pro missense NM_001407660.1:c.5270_5271delAGinsCC NP_001394589.1:p.Gln1757Pro missense NM_001407661.1:c.5270_5271delAGinsCC NP_001394590.1:p.Gln1757Pro missense NM_001407662.1:c.5270_5271delAGinsCC NP_001394591.1:p.Gln1757Pro missense NM_001407663.1:c.5270_5271delAGinsCC NP_001394592.1:p.Gln1757Pro missense NM_001407664.1:c.5231_5232delAGinsCC NP_001394593.1:p.Gln1744Pro missense NM_001407665.1:c.5231_5232delAGinsCC NP_001394594.1:p.Gln1744Pro missense NM_001407666.1:c.5231_5232delAGinsCC NP_001394595.1:p.Gln1744Pro missense NM_001407667.1:c.5231_5232delAGinsCC NP_001394596.1:p.Gln1744Pro missense NM_001407668.1:c.5231_5232delAGinsCC NP_001394597.1:p.Gln1744Pro missense NM_001407669.1:c.5231_5232delAGinsCC NP_001394598.1:p.Gln1744Pro missense NM_001407670.1:c.5228_5229delAGinsCC NP_001394599.1:p.Gln1743Pro missense NM_001407671.1:c.5228_5229delAGinsCC NP_001394600.1:p.Gln1743Pro missense NM_001407672.1:c.5228_5229delAGinsCC NP_001394601.1:p.Gln1743Pro missense NM_001407673.1:c.5228_5229delAGinsCC NP_001394602.1:p.Gln1743Pro missense NM_001407674.1:c.5228_5229delAGinsCC NP_001394603.1:p.Gln1743Pro missense NM_001407675.1:c.5228_5229delAGinsCC NP_001394604.1:p.Gln1743Pro missense NM_001407676.1:c.5228_5229delAGinsCC NP_001394605.1:p.Gln1743Pro missense NM_001407677.1:c.5228_5229delAGinsCC NP_001394606.1:p.Gln1743Pro missense NM_001407678.1:c.5228_5229delAGinsCC NP_001394607.1:p.Gln1743Pro missense NM_001407679.1:c.5228_5229delAGinsCC NP_001394608.1:p.Gln1743Pro missense NM_001407680.1:c.5228_5229delAGinsCC NP_001394609.1:p.Gln1743Pro missense NM_001407681.1:c.5225_5226delAGinsCC NP_001394610.1:p.Gln1742Pro missense NM_001407682.1:c.5225_5226delAGinsCC NP_001394611.1:p.Gln1742Pro missense NM_001407683.1:c.5225_5226delAGinsCC NP_001394612.1:p.Gln1742Pro missense NM_001407685.1:c.5225_5226delAGinsCC NP_001394614.1:p.Gln1742Pro missense NM_001407686.1:c.5225_5226delAGinsCC NP_001394615.1:p.Gln1742Pro missense NM_001407687.1:c.5225_5226delAGinsCC NP_001394616.1:p.Gln1742Pro missense NM_001407688.1:c.5225_5226delAGinsCC NP_001394617.1:p.Gln1742Pro missense NM_001407689.1:c.5225_5226delAGinsCC NP_001394618.1:p.Gln1742Pro missense NM_001407690.1:c.5222_5223delAGinsCC NP_001394619.1:p.Gln1741Pro missense NM_001407691.1:c.5222_5223delAGinsCC NP_001394620.1:p.Gln1741Pro missense NM_001407692.1:c.5213_5214delAGinsCC NP_001394621.1:p.Gln1738Pro missense NM_001407694.1:c.5213_5214delAGinsCC NP_001394623.1:p.Gln1738Pro missense NM_001407695.1:c.5213_5214delAGinsCC NP_001394624.1:p.Gln1738Pro missense NM_001407696.1:c.5213_5214delAGinsCC NP_001394625.1:p.Gln1738Pro missense NM_001407697.1:c.5213_5214delAGinsCC NP_001394626.1:p.Gln1738Pro missense NM_001407698.1:c.5213_5214delAGinsCC NP_001394627.1:p.Gln1738Pro missense NM_001407724.1:c.5213_5214delAGinsCC NP_001394653.1:p.Gln1738Pro missense NM_001407725.1:c.5213_5214delAGinsCC NP_001394654.1:p.Gln1738Pro missense NM_001407726.1:c.5213_5214delAGinsCC NP_001394655.1:p.Gln1738Pro missense NM_001407727.1:c.5213_5214delAGinsCC NP_001394656.1:p.Gln1738Pro missense NM_001407728.1:c.5213_5214delAGinsCC NP_001394657.1:p.Gln1738Pro missense NM_001407729.1:c.5213_5214delAGinsCC NP_001394658.1:p.Gln1738Pro missense NM_001407730.1:c.5213_5214delAGinsCC NP_001394659.1:p.Gln1738Pro missense NM_001407731.1:c.5213_5214delAGinsCC NP_001394660.1:p.Gln1738Pro missense NM_001407732.1:c.5210_5211delAGinsCC NP_001394661.1:p.Gln1737Pro missense NM_001407733.1:c.5210_5211delAGinsCC NP_001394662.1:p.Gln1737Pro missense NM_001407734.1:c.5210_5211delAGinsCC NP_001394663.1:p.Gln1737Pro missense NM_001407735.1:c.5210_5211delAGinsCC NP_001394664.1:p.Gln1737Pro missense NM_001407736.1:c.5210_5211delAGinsCC NP_001394665.1:p.Gln1737Pro missense NM_001407737.1:c.5210_5211delAGinsCC NP_001394666.1:p.Gln1737Pro missense NM_001407738.1:c.5210_5211delAGinsCC NP_001394667.1:p.Gln1737Pro missense NM_001407739.1:c.5210_5211delAGinsCC NP_001394668.1:p.Gln1737Pro missense NM_001407740.1:c.5210_5211delAGinsCC NP_001394669.1:p.Gln1737Pro missense NM_001407741.1:c.5210_5211delAGinsCC NP_001394670.1:p.Gln1737Pro missense NM_001407742.1:c.5210_5211delAGinsCC NP_001394671.1:p.Gln1737Pro missense NM_001407743.1:c.5210_5211delAGinsCC NP_001394672.1:p.Gln1737Pro missense NM_001407744.1:c.5210_5211delAGinsCC NP_001394673.1:p.Gln1737Pro missense NM_001407745.1:c.5210_5211delAGinsCC NP_001394674.1:p.Gln1737Pro missense NM_001407746.1:c.5210_5211delAGinsCC NP_001394675.1:p.Gln1737Pro missense NM_001407747.1:c.5210_5211delAGinsCC NP_001394676.1:p.Gln1737Pro missense NM_001407748.1:c.5210_5211delAGinsCC NP_001394677.1:p.Gln1737Pro missense NM_001407749.1:c.5210_5211delAGinsCC NP_001394678.1:p.Gln1737Pro missense NM_001407750.1:c.5210_5211delAGinsCC NP_001394679.1:p.Gln1737Pro missense NM_001407751.1:c.5210_5211delAGinsCC NP_001394680.1:p.Gln1737Pro missense NM_001407752.1:c.5210_5211delAGinsCC NP_001394681.1:p.Gln1737Pro missense NM_001407838.1:c.5207_5208delAGinsCC NP_001394767.1:p.Gln1736Pro missense NM_001407839.1:c.5207_5208delAGinsCC NP_001394768.1:p.Gln1736Pro missense NM_001407841.1:c.5207_5208delAGinsCC NP_001394770.1:p.Gln1736Pro missense NM_001407842.1:c.5207_5208delAGinsCC NP_001394771.1:p.Gln1736Pro missense NM_001407843.1:c.5207_5208delAGinsCC NP_001394772.1:p.Gln1736Pro missense NM_001407844.1:c.5207_5208delAGinsCC NP_001394773.1:p.Gln1736Pro missense NM_001407845.1:c.5207_5208delAGinsCC NP_001394774.1:p.Gln1736Pro missense NM_001407846.1:c.5207_5208delAGinsCC NP_001394775.1:p.Gln1736Pro missense NM_001407847.1:c.5207_5208delAGinsCC NP_001394776.1:p.Gln1736Pro missense NM_001407848.1:c.5207_5208delAGinsCC NP_001394777.1:p.Gln1736Pro missense NM_001407849.1:c.5207_5208delAGinsCC NP_001394778.1:p.Gln1736Pro missense NM_001407850.1:c.5207_5208delAGinsCC NP_001394779.1:p.Gln1736Pro missense NM_001407851.1:c.5207_5208delAGinsCC NP_001394780.1:p.Gln1736Pro missense NM_001407852.1:c.5207_5208delAGinsCC NP_001394781.1:p.Gln1736Pro missense NM_001407853.1:c.5207_5208delAGinsCC NP_001394782.1:p.Gln1736Pro missense NM_001407862.1:c.5153_5154delAGinsCC NP_001394791.1:p.Gln1718Pro missense NM_001407863.1:c.5150_5151delAGinsCC NP_001394792.1:p.Gln1717Pro missense NM_001407874.1:c.5147_5148delAGinsCC NP_001394803.1:p.Gln1716Pro missense NM_001407875.1:c.5147_5148delAGinsCC NP_001394804.1:p.Gln1716Pro missense NM_001407879.1:c.5144_5145delAGinsCC NP_001394808.1:p.Gln1715Pro missense NM_001407881.1:c.5144_5145delAGinsCC NP_001394810.1:p.Gln1715Pro missense NM_001407882.1:c.5144_5145delAGinsCC NP_001394811.1:p.Gln1715Pro missense NM_001407884.1:c.5144_5145delAGinsCC NP_001394813.1:p.Gln1715Pro missense NM_001407885.1:c.5144_5145delAGinsCC NP_001394814.1:p.Gln1715Pro missense NM_001407886.1:c.5144_5145delAGinsCC NP_001394815.1:p.Gln1715Pro missense NM_001407887.1:c.5144_5145delAGinsCC NP_001394816.1:p.Gln1715Pro missense NM_001407889.1:c.5144_5145delAGinsCC NP_001394818.1:p.Gln1715Pro missense NM_001407894.1:c.5141_5142delAGinsCC NP_001394823.1:p.Gln1714Pro missense NM_001407895.1:c.5141_5142delAGinsCC NP_001394824.1:p.Gln1714Pro missense NM_001407896.1:c.5141_5142delAGinsCC NP_001394825.1:p.Gln1714Pro missense NM_001407897.1:c.5141_5142delAGinsCC NP_001394826.1:p.Gln1714Pro missense NM_001407898.1:c.5141_5142delAGinsCC NP_001394827.1:p.Gln1714Pro missense NM_001407899.1:c.5141_5142delAGinsCC NP_001394828.1:p.Gln1714Pro missense NM_001407900.1:c.5141_5142delAGinsCC NP_001394829.1:p.Gln1714Pro missense NM_001407902.1:c.5141_5142delAGinsCC NP_001394831.1:p.Gln1714Pro missense NM_001407904.1:c.5141_5142delAGinsCC NP_001394833.1:p.Gln1714Pro missense NM_001407906.1:c.5141_5142delAGinsCC NP_001394835.1:p.Gln1714Pro missense NM_001407907.1:c.5141_5142delAGinsCC NP_001394836.1:p.Gln1714Pro missense NM_001407908.1:c.5141_5142delAGinsCC NP_001394837.1:p.Gln1714Pro missense NM_001407909.1:c.5141_5142delAGinsCC NP_001394838.1:p.Gln1714Pro missense NM_001407910.1:c.5141_5142delAGinsCC NP_001394839.1:p.Gln1714Pro missense NM_001407915.1:c.5138_5139delAGinsCC NP_001394844.1:p.Gln1713Pro missense NM_001407916.1:c.5138_5139delAGinsCC NP_001394845.1:p.Gln1713Pro missense NM_001407917.1:c.5138_5139delAGinsCC NP_001394846.1:p.Gln1713Pro missense NM_001407918.1:c.5138_5139delAGinsCC NP_001394847.1:p.Gln1713Pro missense NM_001407920.1:c.5090_5091delAGinsCC NP_001394849.1:p.Gln1697Pro missense NM_001407921.1:c.5090_5091delAGinsCC NP_001394850.1:p.Gln1697Pro missense NM_001407922.1:c.5090_5091delAGinsCC NP_001394851.1:p.Gln1697Pro missense NM_001407923.1:c.5090_5091delAGinsCC NP_001394852.1:p.Gln1697Pro missense NM_001407924.1:c.5090_5091delAGinsCC NP_001394853.1:p.Gln1697Pro missense NM_001407925.1:c.5090_5091delAGinsCC NP_001394854.1:p.Gln1697Pro missense NM_001407926.1:c.5090_5091delAGinsCC NP_001394855.1:p.Gln1697Pro missense NM_001407927.1:c.5087_5088delAGinsCC NP_001394856.1:p.Gln1696Pro missense NM_001407928.1:c.5087_5088delAGinsCC NP_001394857.1:p.Gln1696Pro missense NM_001407929.1:c.5087_5088delAGinsCC NP_001394858.1:p.Gln1696Pro missense NM_001407930.1:c.5087_5088delAGinsCC NP_001394859.1:p.Gln1696Pro missense NM_001407931.1:c.5087_5088delAGinsCC NP_001394860.1:p.Gln1696Pro missense NM_001407932.1:c.5087_5088delAGinsCC NP_001394861.1:p.Gln1696Pro missense NM_001407933.1:c.5087_5088delAGinsCC NP_001394862.1:p.Gln1696Pro missense NM_001407934.1:c.5084_5085delAGinsCC NP_001394863.1:p.Gln1695Pro missense NM_001407935.1:c.5084_5085delAGinsCC NP_001394864.1:p.Gln1695Pro missense NM_001407936.1:c.5084_5085delAGinsCC NP_001394865.1:p.Gln1695Pro missense NM_001407946.1:c.5021_5022delAGinsCC NP_001394875.1:p.Gln1674Pro missense NM_001407947.1:c.5021_5022delAGinsCC NP_001394876.1:p.Gln1674Pro missense NM_001407948.1:c.5021_5022delAGinsCC NP_001394877.1:p.Gln1674Pro missense NM_001407949.1:c.5021_5022delAGinsCC NP_001394878.1:p.Gln1674Pro missense NM_001407950.1:c.5018_5019delAGinsCC NP_001394879.1:p.Gln1673Pro missense NM_001407951.1:c.5018_5019delAGinsCC NP_001394880.1:p.Gln1673Pro missense NM_001407952.1:c.5018_5019delAGinsCC NP_001394881.1:p.Gln1673Pro missense NM_001407953.1:c.5018_5019delAGinsCC NP_001394882.1:p.Gln1673Pro missense NM_001407954.1:c.5018_5019delAGinsCC NP_001394883.1:p.Gln1673Pro missense NM_001407955.1:c.5018_5019delAGinsCC NP_001394884.1:p.Gln1673Pro missense NM_001407956.1:c.5015_5016delAGinsCC NP_001394885.1:p.Gln1672Pro missense NM_001407957.1:c.5015_5016delAGinsCC NP_001394886.1:p.Gln1672Pro missense NM_001407958.1:c.5015_5016delAGinsCC NP_001394887.1:p.Gln1672Pro missense NM_001407959.1:c.4973_4974delAGinsCC NP_001394888.1:p.Gln1658Pro missense NM_001407960.1:c.4970_4971delAGinsCC NP_001394889.1:p.Gln1657Pro missense NM_001407962.1:c.4970_4971delAGinsCC NP_001394891.1:p.Gln1657Pro missense NM_001407963.1:c.4967_4968delAGinsCC NP_001394892.1:p.Gln1656Pro missense NM_001407964.1:c.4892_4893delAGinsCC NP_001394893.1:p.Gln1631Pro missense NM_001407965.1:c.4847_4848delAGinsCC NP_001394894.1:p.Gln1616Pro missense NM_001407966.1:c.4466_4467delAGinsCC NP_001394895.1:p.Gln1489Pro missense NM_001407967.1:c.4463_4464delAGinsCC NP_001394896.1:p.Gln1488Pro missense NM_001407968.1:c.2750_2751delAGinsCC NP_001394897.1:p.Gln917Pro missense NM_001407969.1:c.2747_2748delAGinsCC NP_001394898.1:p.Gln916Pro missense NM_001407970.1:c.2111_2112delAGinsCC NP_001394899.1:p.Gln704Pro missense NM_001407971.1:c.2111_2112delAGinsCC NP_001394900.1:p.Gln704Pro missense NM_001407972.1:c.2108_2109delAGinsCC NP_001394901.1:p.Gln703Pro missense NM_001407973.1:c.2045_2046delAGinsCC NP_001394902.1:p.Gln682Pro missense NM_001407974.1:c.2045_2046delAGinsCC NP_001394903.1:p.Gln682Pro missense NM_001407975.1:c.2045_2046delAGinsCC NP_001394904.1:p.Gln682Pro missense NM_001407976.1:c.2045_2046delAGinsCC NP_001394905.1:p.Gln682Pro missense NM_001407977.1:c.2045_2046delAGinsCC NP_001394906.1:p.Gln682Pro missense NM_001407978.1:c.2045_2046delAGinsCC NP_001394907.1:p.Gln682Pro missense NM_001407979.1:c.2042_2043delAGinsCC NP_001394908.1:p.Gln681Pro missense NM_001407980.1:c.2042_2043delAGinsCC NP_001394909.1:p.Gln681Pro missense NM_001407981.1:c.2042_2043delAGinsCC NP_001394910.1:p.Gln681Pro missense NM_001407982.1:c.2042_2043delAGinsCC NP_001394911.1:p.Gln681Pro missense NM_001407983.1:c.2042_2043delAGinsCC NP_001394912.1:p.Gln681Pro missense NM_001407984.1:c.2042_2043delAGinsCC NP_001394913.1:p.Gln681Pro missense NM_001407985.1:c.2042_2043delAGinsCC NP_001394914.1:p.Gln681Pro missense NM_001407986.1:c.2042_2043delAGinsCC NP_001394915.1:p.Gln681Pro missense NM_001407990.1:c.2042_2043delAGinsCC NP_001394919.1:p.Gln681Pro missense NM_001407991.1:c.2042_2043delAGinsCC NP_001394920.1:p.Gln681Pro missense NM_001407992.1:c.2042_2043delAGinsCC NP_001394921.1:p.Gln681Pro missense NM_001407993.1:c.2042_2043delAGinsCC NP_001394922.1:p.Gln681Pro missense NM_001408392.1:c.2039_2040delAGinsCC NP_001395321.1:p.Gln680Pro missense NM_001408396.1:c.2039_2040delAGinsCC NP_001395325.1:p.Gln680Pro missense NM_001408397.1:c.2039_2040delAGinsCC NP_001395326.1:p.Gln680Pro missense NM_001408398.1:c.2039_2040delAGinsCC NP_001395327.1:p.Gln680Pro missense NM_001408399.1:c.2039_2040delAGinsCC NP_001395328.1:p.Gln680Pro missense NM_001408400.1:c.2039_2040delAGinsCC NP_001395329.1:p.Gln680Pro missense NM_001408401.1:c.2039_2040delAGinsCC NP_001395330.1:p.Gln680Pro missense NM_001408402.1:c.2039_2040delAGinsCC NP_001395331.1:p.Gln680Pro missense NM_001408403.1:c.2039_2040delAGinsCC NP_001395332.1:p.Gln680Pro missense NM_001408404.1:c.2039_2040delAGinsCC NP_001395333.1:p.Gln680Pro missense NM_001408406.1:c.2036_2037delAGinsCC NP_001395335.1:p.Gln679Pro missense NM_001408407.1:c.2036_2037delAGinsCC NP_001395336.1:p.Gln679Pro missense NM_001408408.1:c.2036_2037delAGinsCC NP_001395337.1:p.Gln679Pro missense NM_001408409.1:c.2033_2034delAGinsCC NP_001395338.1:p.Gln678Pro missense NM_001408410.1:c.1970_1971delAGinsCC NP_001395339.1:p.Gln657Pro missense NM_001408411.1:c.1967_1968delAGinsCC NP_001395340.1:p.Gln656Pro missense NM_001408412.1:c.1964_1965delAGinsCC NP_001395341.1:p.Gln655Pro missense NM_001408413.1:c.1964_1965delAGinsCC NP_001395342.1:p.Gln655Pro missense NM_001408414.1:c.1964_1965delAGinsCC NP_001395343.1:p.Gln655Pro missense NM_001408415.1:c.1964_1965delAGinsCC NP_001395344.1:p.Gln655Pro missense NM_001408416.1:c.1964_1965delAGinsCC NP_001395345.1:p.Gln655Pro missense NM_001408418.1:c.1928_1929delAGinsCC NP_001395347.1:p.Gln643Pro missense NM_001408419.1:c.1928_1929delAGinsCC NP_001395348.1:p.Gln643Pro missense NM_001408420.1:c.1928_1929delAGinsCC NP_001395349.1:p.Gln643Pro missense NM_001408421.1:c.1925_1926delAGinsCC NP_001395350.1:p.Gln642Pro missense NM_001408422.1:c.1925_1926delAGinsCC NP_001395351.1:p.Gln642Pro missense NM_001408423.1:c.1925_1926delAGinsCC NP_001395352.1:p.Gln642Pro missense NM_001408424.1:c.1925_1926delAGinsCC NP_001395353.1:p.Gln642Pro missense NM_001408425.1:c.1922_1923delAGinsCC NP_001395354.1:p.Gln641Pro missense NM_001408426.1:c.1922_1923delAGinsCC NP_001395355.1:p.Gln641Pro missense NM_001408427.1:c.1922_1923delAGinsCC NP_001395356.1:p.Gln641Pro missense NM_001408428.1:c.1922_1923delAGinsCC NP_001395357.1:p.Gln641Pro missense NM_001408429.1:c.1922_1923delAGinsCC NP_001395358.1:p.Gln641Pro missense NM_001408430.1:c.1922_1923delAGinsCC NP_001395359.1:p.Gln641Pro missense NM_001408431.1:c.1922_1923delAGinsCC NP_001395360.1:p.Gln641Pro missense NM_001408432.1:c.1919_1920delAGinsCC NP_001395361.1:p.Gln640Pro missense NM_001408433.1:c.1919_1920delAGinsCC NP_001395362.1:p.Gln640Pro missense NM_001408434.1:c.1919_1920delAGinsCC NP_001395363.1:p.Gln640Pro missense NM_001408435.1:c.1919_1920delAGinsCC NP_001395364.1:p.Gln640Pro missense NM_001408436.1:c.1919_1920delAGinsCC NP_001395365.1:p.Gln640Pro missense NM_001408437.1:c.1919_1920delAGinsCC NP_001395366.1:p.Gln640Pro missense NM_001408438.1:c.1919_1920delAGinsCC NP_001395367.1:p.Gln640Pro missense NM_001408439.1:c.1919_1920delAGinsCC NP_001395368.1:p.Gln640Pro missense NM_001408440.1:c.1919_1920delAGinsCC NP_001395369.1:p.Gln640Pro missense NM_001408441.1:c.1919_1920delAGinsCC NP_001395370.1:p.Gln640Pro missense NM_001408442.1:c.1919_1920delAGinsCC NP_001395371.1:p.Gln640Pro missense NM_001408443.1:c.1919_1920delAGinsCC NP_001395372.1:p.Gln640Pro missense NM_001408444.1:c.1919_1920delAGinsCC NP_001395373.1:p.Gln640Pro missense NM_001408445.1:c.1916_1917delAGinsCC NP_001395374.1:p.Gln639Pro missense NM_001408446.1:c.1916_1917delAGinsCC NP_001395375.1:p.Gln639Pro missense NM_001408447.1:c.1916_1917delAGinsCC NP_001395376.1:p.Gln639Pro missense NM_001408448.1:c.1916_1917delAGinsCC NP_001395377.1:p.Gln639Pro missense NM_001408450.1:c.1916_1917delAGinsCC NP_001395379.1:p.Gln639Pro missense NM_001408451.1:c.1910_1911delAGinsCC NP_001395380.1:p.Gln637Pro missense NM_001408452.1:c.1904_1905delAGinsCC NP_001395381.1:p.Gln635Pro missense NM_001408453.1:c.1904_1905delAGinsCC NP_001395382.1:p.Gln635Pro missense NM_001408454.1:c.1904_1905delAGinsCC NP_001395383.1:p.Gln635Pro missense NM_001408455.1:c.1904_1905delAGinsCC NP_001395384.1:p.Gln635Pro missense NM_001408456.1:c.1904_1905delAGinsCC NP_001395385.1:p.Gln635Pro missense NM_001408457.1:c.1904_1905delAGinsCC NP_001395386.1:p.Gln635Pro missense NM_001408458.1:c.1901_1902delAGinsCC NP_001395387.1:p.Gln634Pro missense NM_001408459.1:c.1901_1902delAGinsCC NP_001395388.1:p.Gln634Pro missense NM_001408460.1:c.1901_1902delAGinsCC NP_001395389.1:p.Gln634Pro missense NM_001408461.1:c.1901_1902delAGinsCC NP_001395390.1:p.Gln634Pro missense NM_001408462.1:c.1901_1902delAGinsCC NP_001395391.1:p.Gln634Pro missense NM_001408463.1:c.1901_1902delAGinsCC NP_001395392.1:p.Gln634Pro missense NM_001408464.1:c.1901_1902delAGinsCC NP_001395393.1:p.Gln634Pro missense NM_001408465.1:c.1901_1902delAGinsCC NP_001395394.1:p.Gln634Pro missense NM_001408466.1:c.1901_1902delAGinsCC NP_001395395.1:p.Gln634Pro missense NM_001408467.1:c.1901_1902delAGinsCC NP_001395396.1:p.Gln634Pro missense NM_001408468.1:c.1898_1899delAGinsCC NP_001395397.1:p.Gln633Pro missense NM_001408469.1:c.1898_1899delAGinsCC NP_001395398.1:p.Gln633Pro missense NM_001408470.1:c.1898_1899delAGinsCC NP_001395399.1:p.Gln633Pro missense NM_001408474.1:c.1844_1845delAGinsCC NP_001395403.1:p.Gln615Pro missense NM_001408475.1:c.1841_1842delAGinsCC NP_001395404.1:p.Gln614Pro missense NM_001408476.1:c.1841_1842delAGinsCC NP_001395405.1:p.Gln614Pro missense NM_001408478.1:c.1835_1836delAGinsCC NP_001395407.1:p.Gln612Pro missense NM_001408479.1:c.1835_1836delAGinsCC NP_001395408.1:p.Gln612Pro missense NM_001408480.1:c.1835_1836delAGinsCC NP_001395409.1:p.Gln612Pro missense NM_001408481.1:c.1832_1833delAGinsCC NP_001395410.1:p.Gln611Pro missense NM_001408482.1:c.1832_1833delAGinsCC NP_001395411.1:p.Gln611Pro missense NM_001408483.1:c.1832_1833delAGinsCC NP_001395412.1:p.Gln611Pro missense NM_001408484.1:c.1832_1833delAGinsCC NP_001395413.1:p.Gln611Pro missense NM_001408485.1:c.1832_1833delAGinsCC NP_001395414.1:p.Gln611Pro missense NM_001408489.1:c.1832_1833delAGinsCC NP_001395418.1:p.Gln611Pro missense NM_001408490.1:c.1832_1833delAGinsCC NP_001395419.1:p.Gln611Pro missense NM_001408491.1:c.1832_1833delAGinsCC NP_001395420.1:p.Gln611Pro missense NM_001408492.1:c.1829_1830delAGinsCC NP_001395421.1:p.Gln610Pro missense NM_001408493.1:c.1829_1830delAGinsCC NP_001395422.1:p.Gln610Pro missense NM_001408494.1:c.1805_1806delAGinsCC NP_001395423.1:p.Gln602Pro missense NM_001408495.1:c.1799_1800delAGinsCC NP_001395424.1:p.Gln600Pro missense NM_001408496.1:c.1781_1782delAGinsCC NP_001395425.1:p.Gln594Pro missense NM_001408497.1:c.1781_1782delAGinsCC NP_001395426.1:p.Gln594Pro missense NM_001408498.1:c.1781_1782delAGinsCC NP_001395427.1:p.Gln594Pro missense NM_001408499.1:c.1781_1782delAGinsCC NP_001395428.1:p.Gln594Pro missense NM_001408500.1:c.1781_1782delAGinsCC NP_001395429.1:p.Gln594Pro missense NM_001408501.1:c.1781_1782delAGinsCC NP_001395430.1:p.Gln594Pro missense NM_001408502.1:c.1778_1779delAGinsCC NP_001395431.1:p.Gln593Pro missense NM_001408503.1:c.1778_1779delAGinsCC NP_001395432.1:p.Gln593Pro missense NM_001408504.1:c.1778_1779delAGinsCC NP_001395433.1:p.Gln593Pro missense NM_001408505.1:c.1775_1776delAGinsCC NP_001395434.1:p.Gln592Pro missense NM_001408506.1:c.1718_1719delAGinsCC NP_001395435.1:p.Gln573Pro missense NM_001408507.1:c.1715_1716delAGinsCC NP_001395436.1:p.Gln572Pro missense NM_001408508.1:c.1706_1707delAGinsCC NP_001395437.1:p.Gln569Pro missense NM_001408509.1:c.1703_1704delAGinsCC NP_001395438.1:p.Gln568Pro missense NM_001408510.1:c.1664_1665delAGinsCC NP_001395439.1:p.Gln555Pro missense NM_001408511.1:c.1661_1662delAGinsCC NP_001395440.1:p.Gln554Pro missense NM_001408512.1:c.1541_1542delAGinsCC NP_001395441.1:p.Gln514Pro missense NM_001408513.1:c.1514_1515delAGinsCC NP_001395442.1:p.Gln505Pro missense NM_001408514.1:c.1118_1119delAGinsCC NP_001395443.1:p.Gln373Pro missense NM_007297.4:c.5213_5214delinsCC NP_009228.2:p.Gln1738Pro missense NM_007298.4:c.2042_2043delAGinsCC NP_009229.2:p.Gln681Pro missense NM_007299.4:c.2021-1470_2021-1469delinsCC intron variant NM_007300.4:c.5417_5418delinsCC NP_009231.2:p.Gln1806Pro missense NM_007304.2:c.2042_2043delAGinsCC NP_009235.2:p.Gln681Pro missense NR_027676.2:n.5531_5532delinsCC non-coding transcript variant NC_000017.11:g.43049172_43049173delinsGG NC_000017.10:g.41201189_41201190delinsGG NG_005905.2:g.168811_168812delinsCC LRG_292:g.168811_168812delinsCC LRG_292t1:c.5354_5355delAGinsCC LRG_292p1:p.Gln1785Pro - Protein change
- Q1658P, Q1672P, Q1673P, Q1716P, Q1741P, Q1758P, Q1766P, Q1781P, Q1784P, Q568P, Q573P, Q592P, Q600P, Q635P, Q657P, Q681P, Q682P, Q1674P, Q1695P, Q1696P, Q1714P, Q1718P, Q1742P, Q1743P, Q1759P, Q1782P, Q1785P, Q373P, Q554P, Q602P, Q610P, Q614P, Q615P, Q633P, Q637P, Q655P, Q679P, Q916P, Q917P, Q594P, Q611P, Q641P, Q642P, Q656P, Q678P, Q680P, Q704P, Q1489P, Q1616P, Q1656P, Q1713P, Q1715P, Q1736P, Q1737P, Q1744P, Q1757P, Q1780P, Q1807P, Q514P, Q555P, Q569P, Q1488P, Q1631P, Q1657P, Q1697P, Q1717P, Q1738P, Q1765P, Q1783P, Q1805P, Q1806P, Q505P, Q572P, Q593P, Q612P, Q634P, Q639P, Q640P, Q643P, Q703P
- Other names
- -
- Canonical SPDI
- NC_000017.11:43049171:CT:GG
-
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 21, 2021 | RCV002346982.2 |
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
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Dec 21, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002645075.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.5354_5355delAGinsCC variant (also known as p.Q1785P), located in coding exon 20 of the BRCA1 gene, results from an in-frame deletion of AG and insertion … (more)
The c.5354_5355delAGinsCC variant (also known as p.Q1785P), located in coding exon 20 of the BRCA1 gene, results from an in-frame deletion of AG and insertion of CC at nucleotide positions 5354 to 5355. This results in the substitution of the glutamine residue for a proline residue at codon 1785, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
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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:
The c.5354_5355delAGinsCC variant (also known as p.Q1785P), located in coding exon 20 of the BRCA1 gene, results from an in-frame deletion of AG and insertion of CC at nucleotide positions 5354 to 5355. This results in the substitution of the glutamine residue for a proline residue at codon 1785, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
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 this variant ...
HelpRecord last updated May 01, 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.