rs729940
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001275.4(CHGA):c.1195C>A(p.Arg399Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000138 in 1,453,426 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_001275.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CHGA | NM_001275.4 | c.1195C>A | p.Arg399Arg | synonymous_variant | Exon 7 of 8 | ENST00000216492.10 | NP_001266.1 | |
CHGA | NM_001301690.2 | c.742C>A | p.Arg248Arg | synonymous_variant | Exon 6 of 7 | NP_001288619.1 | ||
CHGA | XM_011536370.3 | c.1195C>A | p.Arg399Arg | synonymous_variant | Exon 8 of 9 | XP_011534672.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CHGA | ENST00000216492.10 | c.1195C>A | p.Arg399Arg | synonymous_variant | Exon 7 of 8 | 1 | NM_001275.4 | ENSP00000216492.5 | ||
CHGA | ENST00000334654.4 | c.742C>A | p.Arg248Arg | synonymous_variant | Exon 6 of 7 | 1 | ENSP00000334023.4 | |||
CHGA | ENST00000556876.1 | n.413C>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1453426Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 722164
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at