1-243142447-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_014812.3(CEP170):c.3928G>A(p.Ala1310Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014812.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CEP170 | ENST00000366542.6 | c.3928G>A | p.Ala1310Thr | missense_variant | Exon 15 of 20 | 5 | NM_014812.3 | ENSP00000355500.1 | ||
CEP170 | ENST00000366544.5 | c.3634G>A | p.Ala1212Thr | missense_variant | Exon 14 of 19 | 5 | ENSP00000355502.1 | |||
CEP170 | ENST00000366543.5 | c.3526G>A | p.Ala1176Thr | missense_variant | Exon 14 of 19 | 5 | ENSP00000355501.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3928G>A (p.A1310T) alteration is located in exon 15 (coding exon 14) of the CEP170 gene. This alteration results from a G to A substitution at nucleotide position 3928, causing the alanine (A) at amino acid position 1310 to be replaced by a threonine (T). 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
Publications
No publications associated with this variant yet.