14-104880320-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001112726.3(CEP170B):c.367G>A(p.Val123Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000117 in 1,456,964 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001112726.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEP170B | NM_001112726.3 | c.367G>A | p.Val123Met | missense_variant | 6/19 | ENST00000414716.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP170B | ENST00000414716.8 | c.367G>A | p.Val123Met | missense_variant | 6/19 | 1 | NM_001112726.3 | P1 | |
CEP170B | ENST00000556508.5 | c.157G>A | p.Val53Met | missense_variant | 5/18 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000415 AC: 1AN: 240876Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131092
GnomAD4 exome AF: 0.0000117 AC: 17AN: 1456964Hom.: 0 Cov.: 32 AF XY: 0.00000966 AC XY: 7AN XY: 724304
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2021 | The c.367G>A (p.V123M) alteration is located in exon 6 (coding exon 5) of the CEP170B gene. This alteration results from a G to A substitution at nucleotide position 367, causing the valine (V) at amino acid position 123 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at