2-237347829-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004369.4(COL6A3):c.7007C>G(p.Pro2336Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000548 in 1,459,136 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. P2336L) has been classified as Likely benign.
Frequency
Consequence
NM_004369.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL6A3 | NM_004369.4 | c.7007C>G | p.Pro2336Arg | missense_variant | 31/44 | ENST00000295550.9 | |
COL6A3 | NM_057167.4 | c.6389C>G | p.Pro2130Arg | missense_variant | 30/43 | ||
COL6A3 | NM_057166.5 | c.5186C>G | p.Pro1729Arg | missense_variant | 28/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL6A3 | ENST00000295550.9 | c.7007C>G | p.Pro2336Arg | missense_variant | 31/44 | 1 | NM_004369.4 | P1 | |
COL6A3 | ENST00000472056.5 | c.5186C>G | p.Pro1729Arg | missense_variant | 28/41 | 1 | |||
COL6A3 | ENST00000353578.9 | c.6389C>G | p.Pro2130Arg | missense_variant | 30/43 | 5 | |||
COL6A3 | ENST00000491769.1 | n.1261C>G | non_coding_transcript_exon_variant | 8/20 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000811 AC: 2AN: 246620Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 133066
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1459136Hom.: 0 Cov.: 31 AF XY: 0.00000965 AC XY: 7AN XY: 725426
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at