21-46002730-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001848.3(COL6A1):c.2434+20G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.341 in 1,532,036 control chromosomes in the GnomAD database, including 96,516 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001848.3 intron
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.2434+20G>A | intron_variant | Intron 33 of 34 | ENST00000361866.8 | NP_001839.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.322 AC: 48698AN: 151066Hom.: 8630 Cov.: 36
GnomAD3 exomes AF: 0.383 AC: 87646AN: 229102Hom.: 19650 AF XY: 0.378 AC XY: 47323AN XY: 125202
GnomAD4 exome AF: 0.343 AC: 473683AN: 1380850Hom.: 87876 Cov.: 42 AF XY: 0.346 AC XY: 237633AN XY: 687702
GnomAD4 genome AF: 0.322 AC: 48721AN: 151186Hom.: 8640 Cov.: 36 AF XY: 0.327 AC XY: 24175AN XY: 73866
ClinVar
Submissions by phenotype
not specified Benign:3
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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. -
Bethlem myopathy 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