chr21-46126225-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM1PM2BP4
The NM_001849.4(COL6A2):c.2410G>C(p.Val804Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 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. V804G) has been classified as Likely benign.
Frequency
Consequence
NM_001849.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COL6A2 | NM_001849.4 | c.2410G>C | p.Val804Leu | missense_variant | Exon 26 of 28 | ENST00000300527.9 | NP_001840.3 | |
COL6A2 | NM_058174.3 | c.2410G>C | p.Val804Leu | missense_variant | Exon 26 of 28 | NP_478054.2 | ||
COL6A2 | NM_058175.3 | c.2410G>C | p.Val804Leu | missense_variant | Exon 26 of 28 | NP_478055.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL6A2 | ENST00000300527.9 | c.2410G>C | p.Val804Leu | missense_variant | Exon 26 of 28 | 1 | NM_001849.4 | ENSP00000300527.4 | ||
COL6A2 | ENST00000397763.6 | c.2410G>C | p.Val804Leu | missense_variant | Exon 26 of 28 | 5 | ENSP00000380870.1 | |||
COL6A2 | ENST00000409416.6 | c.2410G>C | p.Val804Leu | missense_variant | Exon 25 of 27 | 5 | ENSP00000387115.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 37
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at