rs140630794
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM2PM5BP4
The NM_005441.3(CHAF1B):c.496A>C(p.Ile166Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000148 in 1,551,552 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I166V) has been classified as Likely pathogenic.
Frequency
Consequence
NM_005441.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHAF1B | NM_005441.3 | c.496A>C | p.Ile166Leu | missense_variant | 6/14 | ENST00000314103.6 | |
CHAF1B | XM_047441000.1 | c.18-2092A>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHAF1B | ENST00000314103.6 | c.496A>C | p.Ile166Leu | missense_variant | 6/14 | 1 | NM_005441.3 | P1 | |
CHAF1B | ENST00000480486.1 | n.573A>C | non_coding_transcript_exon_variant | 5/6 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000127 AC: 3AN: 236306Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 127898
GnomAD4 exome AF: 0.0000150 AC: 21AN: 1399408Hom.: 0 Cov.: 25 AF XY: 0.0000159 AC XY: 11AN XY: 691212
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74342
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at