17-64508633-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138363.3(CEP95):c.61A>G(p.Ile21Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000962 in 1,455,724 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I21M) has been classified as Uncertain significance.
Frequency
Consequence
NM_138363.3 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 |
---|---|---|---|---|---|---|---|
CEP95 | NM_138363.3 | c.61A>G | p.Ile21Val | missense_variant | 2/20 | ENST00000556440.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP95 | ENST00000556440.7 | c.61A>G | p.Ile21Val | missense_variant | 2/20 | 1 | NM_138363.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000483 AC: 9AN: 186422Hom.: 0 AF XY: 0.0000389 AC XY: 4AN XY: 102842
GnomAD4 exome AF: 0.00000921 AC: 12AN: 1303632Hom.: 0 Cov.: 26 AF XY: 0.0000109 AC XY: 7AN XY: 644276
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152092Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 18, 2023 | The c.61A>G (p.I21V) alteration is located in exon 2 (coding exon 2) of the CEP95 gene. This alteration results from a A to G substitution at nucleotide position 61, causing the isoleucine (I) at amino acid position 21 to be replaced by a valine (V). 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