chr6-31142614-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001105564.2(CCHCR1):āc.2594C>Gā(p.Ser865Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.304 in 1,611,658 control chromosomes in the GnomAD database, including 77,250 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001105564.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCHCR1 | NM_001105564.2 | c.2594C>G | p.Ser865Cys | missense_variant | 18/18 | ENST00000396268.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCHCR1 | ENST00000396268.8 | c.2594C>G | p.Ser865Cys | missense_variant | 18/18 | 1 | NM_001105564.2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.283 AC: 42989AN: 152080Hom.: 6262 Cov.: 33
GnomAD3 exomes AF: 0.278 AC: 69694AN: 250546Hom.: 10434 AF XY: 0.280 AC XY: 37894AN XY: 135422
GnomAD4 exome AF: 0.306 AC: 446964AN: 1459460Hom.: 70988 Cov.: 34 AF XY: 0.305 AC XY: 221086AN XY: 725938
GnomAD4 genome AF: 0.283 AC: 43008AN: 152198Hom.: 6262 Cov.: 33 AF XY: 0.279 AC XY: 20792AN XY: 74400
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at