chr12-65051392-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_007191.5(WIF1):c.1097C>T(p.Ala366Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,613,810 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_007191.5 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 |
---|---|---|---|---|---|---|---|
WIF1 | NM_007191.5 | c.1097C>T | p.Ala366Val | missense_variant | 10/10 | ENST00000286574.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WIF1 | ENST00000286574.9 | c.1097C>T | p.Ala366Val | missense_variant | 10/10 | 1 | NM_007191.5 | P1 | |
ENST00000360528.3 | n.1036-2710G>A | intron_variant, non_coding_transcript_variant | 5 | ||||||
WIF1 | ENST00000543094.1 | c.344C>T | p.Ala115Val | missense_variant | 5/5 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000759 AC: 19AN: 250460Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135454
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461576Hom.: 0 Cov.: 30 AF XY: 0.0000179 AC XY: 13AN XY: 727086
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152234Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at