NM_001848.3:c.1335+27A>C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001848.3(COL6A1):c.1335+27A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.861 in 1,571,902 control chromosomes in the GnomAD database, including 583,855 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.1335+27A>C | intron_variant | Intron 19 of 34 | ENST00000361866.8 | NP_001839.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.878 AC: 133594AN: 152100Hom.: 58785 Cov.: 34
GnomAD3 exomes AF: 0.861 AC: 161350AN: 187312Hom.: 69638 AF XY: 0.854 AC XY: 85509AN XY: 100128
GnomAD4 exome AF: 0.859 AC: 1220047AN: 1419684Hom.: 525007 Cov.: 34 AF XY: 0.856 AC XY: 601530AN XY: 702378
GnomAD4 genome AF: 0.878 AC: 133714AN: 152218Hom.: 58848 Cov.: 34 AF XY: 0.878 AC XY: 65318AN XY: 74424
ClinVar
Submissions by phenotype
not specified Benign:4
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not provided Benign:2
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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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Ullrich congenital muscular dystrophy 1A Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at