rs371637449
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004369.4(COL6A3):c.6982C>T(p.Pro2328Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000185 in 1,457,982 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. P2328T) 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.6982C>T | p.Pro2328Ser | missense_variant | 31/44 | ENST00000295550.9 | |
COL6A3 | NM_057167.4 | c.6364C>T | p.Pro2122Ser | missense_variant | 30/43 | ||
COL6A3 | NM_057166.5 | c.5161C>T | p.Pro1721Ser | missense_variant | 28/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL6A3 | ENST00000295550.9 | c.6982C>T | p.Pro2328Ser | missense_variant | 31/44 | 1 | NM_004369.4 | P1 | |
COL6A3 | ENST00000472056.5 | c.5161C>T | p.Pro1721Ser | missense_variant | 28/41 | 1 | |||
COL6A3 | ENST00000353578.9 | c.6364C>T | p.Pro2122Ser | missense_variant | 30/43 | 5 | |||
COL6A3 | ENST00000491769.1 | n.1236C>T | non_coding_transcript_exon_variant | 8/20 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000410 AC: 1AN: 244138Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131590
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1457982Hom.: 0 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 724662
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at