rs117583120
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The ENST00000361866.8(COL6A1):āc.2809A>Cā(p.Lys937Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000434 in 1,612,782 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K937E) has been classified as Likely benign.
Frequency
Consequence
ENST00000361866.8 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COL6A1 | NM_001848.3 | c.2809A>C | p.Lys937Gln | missense_variant | 35/35 | ENST00000361866.8 | NP_001839.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL6A1 | ENST00000361866.8 | c.2809A>C | p.Lys937Gln | missense_variant | 35/35 | 1 | NM_001848.3 | ENSP00000355180 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000242 AC: 6AN: 247992Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 134940
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1460562Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 726620
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at