chr2-237344760-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004369.4(COL6A3):c.7258C>A(p.Arg2420=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,156 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_004369.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL6A3 | NM_004369.4 | c.7258C>A | p.Arg2420= | synonymous_variant | 36/44 | ENST00000295550.9 | |
COL6A3 | NM_057167.4 | c.6640C>A | p.Arg2214= | synonymous_variant | 35/43 | ||
COL6A3 | NM_057166.5 | c.5437C>A | p.Arg1813= | synonymous_variant | 33/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL6A3 | ENST00000295550.9 | c.7258C>A | p.Arg2420= | synonymous_variant | 36/44 | 1 | NM_004369.4 | P1 | |
COL6A3 | ENST00000472056.5 | c.5437C>A | p.Arg1813= | synonymous_variant | 33/41 | 1 | |||
COL6A3 | ENST00000353578.9 | c.6640C>A | p.Arg2214= | synonymous_variant | 35/43 | 5 | |||
COL6A3 | ENST00000491769.1 | n.1512C>A | non_coding_transcript_exon_variant | 13/20 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152156Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 34
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74322
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at