rs777271963
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000751.3(CHRND):c.646C>A(p.Arg216Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,808 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_000751.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CHRND | NM_000751.3 | c.646C>A | p.Arg216Arg | synonymous_variant | Exon 7 of 12 | ENST00000258385.8 | NP_000742.1 | |
CHRND | NM_001256657.2 | c.601C>A | p.Arg201Arg | synonymous_variant | Exon 6 of 11 | NP_001243586.1 | ||
CHRND | NM_001311196.2 | c.343C>A | p.Arg115Arg | synonymous_variant | Exon 7 of 12 | NP_001298125.1 | ||
CHRND | NM_001311195.2 | c.238+1309C>A | intron_variant | Intron 5 of 9 | NP_001298124.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461808Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727206
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.