chr6-33188451-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_080680.3(COL11A2):āc.517C>Gā(p.Arg173Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,764 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. R173W) has been classified as Uncertain significance.
Frequency
Consequence
NM_080680.3 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 |
---|---|---|---|---|---|---|---|
COL11A2 | NM_080680.3 | c.517C>G | p.Arg173Gly | missense_variant | 4/66 | ENST00000341947.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL11A2 | ENST00000341947.7 | c.517C>G | p.Arg173Gly | missense_variant | 4/66 | 5 | NM_080680.3 | P4 | |
COL11A2 | ENST00000395194.1 | c.517C>G | p.Arg173Gly | missense_variant | 4/5 | 1 | |||
COL11A2 | ENST00000374708.8 | c.517C>G | p.Arg173Gly | missense_variant | 4/64 | 5 | A1 | ||
COL11A2 | ENST00000682718.1 | n.334C>G | non_coding_transcript_exon_variant | 3/6 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000406 AC: 1AN: 246566Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134408
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460764Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726692
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at