rs368635334
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004369.4(COL6A3):c.5909G>T(p.Arg1970Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000992 in 1,613,400 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R1970C) has been classified as Uncertain significance.
Frequency
Consequence
NM_004369.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL6A3 | NM_004369.4 | c.5909G>T | p.Arg1970Leu | missense_variant | 13/44 | ENST00000295550.9 | |
COL6A3 | NM_057167.4 | c.5291G>T | p.Arg1764Leu | missense_variant | 12/43 | ||
COL6A3 | NM_057166.5 | c.4088G>T | p.Arg1363Leu | missense_variant | 10/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL6A3 | ENST00000295550.9 | c.5909G>T | p.Arg1970Leu | missense_variant | 13/44 | 1 | NM_004369.4 | P1 | |
COL6A3 | ENST00000472056.5 | c.4088G>T | p.Arg1363Leu | missense_variant | 10/41 | 1 | |||
COL6A3 | ENST00000353578.9 | c.5291G>T | p.Arg1764Leu | missense_variant | 12/43 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152216Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461184Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 726930
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at