17-64525833-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_138363.3(CEP95):c.973C>G(p.Pro325Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000574 in 1,604,122 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 (★).
Frequency
Consequence
NM_138363.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEP95 | NM_138363.3 | c.973C>G | p.Pro325Ala | missense_variant | 9/20 | ENST00000556440.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP95 | ENST00000556440.7 | c.973C>G | p.Pro325Ala | missense_variant | 9/20 | 1 | NM_138363.3 | P1 | |
CEP95 | ENST00000553956.6 | c.*692C>G | 3_prime_UTR_variant, NMD_transcript_variant | 9/20 | 1 | ||||
CEP95 | ENST00000577960.1 | c.*368C>G | 3_prime_UTR_variant, NMD_transcript_variant | 5/5 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000841 AC: 2AN: 237820Hom.: 0 AF XY: 0.0000155 AC XY: 2AN XY: 129110
GnomAD4 exome AF: 0.0000627 AC: 91AN: 1451964Hom.: 0 Cov.: 30 AF XY: 0.0000540 AC XY: 39AN XY: 722156
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 06, 2023 | The c.973C>G (p.P325A) alteration is located in exon 9 (coding exon 9) of the CEP95 gene. This alteration results from a C to G substitution at nucleotide position 973, causing the proline (P) at amino acid position 325 to be replaced by an alanine (A). 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