rs1053312
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001848.3(COL6A1):c.2549G>A(p.Arg850His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.304 in 1,608,614 control chromosomes in the GnomAD database, including 75,844 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001848.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COL6A1 | NM_001848.3 | c.2549G>A | p.Arg850His | missense_variant | Exon 35 of 35 | ENST00000361866.8 | NP_001839.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.321 AC: 48807AN: 152078Hom.: 8165 Cov.: 34
GnomAD3 exomes AF: 0.283 AC: 68262AN: 240858Hom.: 10157 AF XY: 0.278 AC XY: 36713AN XY: 131912
GnomAD4 exome AF: 0.302 AC: 439372AN: 1456418Hom.: 67671 Cov.: 71 AF XY: 0.298 AC XY: 216249AN XY: 724694
GnomAD4 genome AF: 0.321 AC: 48847AN: 152196Hom.: 8173 Cov.: 34 AF XY: 0.319 AC XY: 23765AN XY: 74408
ClinVar
Submissions by phenotype
not specified Benign:8
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Bethlem myopathy 1A Benign:2
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Collagen 6-related myopathy Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Ullrich congenital muscular dystrophy 1A Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at