rs796065315
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024741.3(ZNF408):c.130C>T(p.Pro44Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P44L) has been classified as Likely benign.
Frequency
Consequence
NM_024741.3 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 |
---|---|---|---|---|---|---|---|
ZNF408 | NM_024741.3 | c.130C>T | p.Pro44Ser | missense_variant | 2/5 | ENST00000311764.3 | |
ZNF408 | NM_001184751.2 | c.106C>T | p.Pro36Ser | missense_variant | 2/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF408 | ENST00000311764.3 | c.130C>T | p.Pro44Ser | missense_variant | 2/5 | 1 | NM_024741.3 | P1 | |
ZNF408 | ENST00000526410.1 | n.147C>T | non_coding_transcript_exon_variant | 2/3 | 3 | ||||
ZNF408 | ENST00000531866.1 | n.148C>T | non_coding_transcript_exon_variant | 2/2 | 2 | ||||
ZNF408 | ENST00000534481.1 | n.269C>T | non_coding_transcript_exon_variant | 1/2 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Exudative vitreoretinopathy 1 Uncertain:1
Uncertain significance, no assertion criteria provided | research | Hyderabad Eye Research Foundation, L V Prasad Eye Institute | Feb 12, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at