rs2839110
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001849.4(COL6A2):c.1196G>C(p.Ser399Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict 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. S399N) has been classified as Benign.
Frequency
Consequence
NM_001849.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL6A2 | NM_001849.4 | c.1196G>C | p.Ser399Thr | missense_variant | 14/28 | ENST00000300527.9 | |
COL6A2 | NM_058174.3 | c.1196G>C | p.Ser399Thr | missense_variant | 14/28 | ENST00000397763.6 | |
COL6A2 | NM_058175.3 | c.1196G>C | p.Ser399Thr | missense_variant | 14/28 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL6A2 | ENST00000300527.9 | c.1196G>C | p.Ser399Thr | missense_variant | 14/28 | 1 | NM_001849.4 | P1 | |
COL6A2 | ENST00000397763.6 | c.1196G>C | p.Ser399Thr | missense_variant | 14/28 | 5 | NM_058174.3 | ||
COL6A2 | ENST00000409416.6 | c.1196G>C | p.Ser399Thr | missense_variant | 13/27 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 35
GnomAD4 exome Cov.: 46
GnomAD4 genome ? Cov.: 35
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at