chr17-8122394-A-C
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PP3_Strong
The NM_001165967.2(HES7):āc.175T>Gā(p.Leu59Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000692 in 1,445,046 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L59L) has been classified as Benign.
Frequency
Consequence
NM_001165967.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HES7 | NM_001165967.2 | c.175T>G | p.Leu59Val | missense_variant | 3/4 | ENST00000541682.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HES7 | ENST00000541682.7 | c.175T>G | p.Leu59Val | missense_variant | 3/4 | 1 | NM_001165967.2 | A1 | |
HES7 | ENST00000317814.8 | c.175T>G | p.Leu59Val | missense_variant | 3/4 | 1 | P4 | ||
HES7 | ENST00000577735.1 | c.151T>G | p.Leu51Val | missense_variant | 4/5 | 3 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000461 AC: 1AN: 217058Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 117722
GnomAD4 exome AF: 6.92e-7 AC: 1AN: 1445046Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 717074
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at