17-43953299-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001394028.1(PYY):āc.185A>Gā(p.Gln62Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,459,920 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q62P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001394028.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PYY | NM_001394028.1 | c.185A>G | p.Gln62Arg | missense_variant | 2/4 | ENST00000692052.1 | |
PYY | NM_004160.6 | c.185A>G | p.Gln62Arg | missense_variant | 5/7 | ||
PYY | NM_001394029.1 | c.185A>G | p.Gln62Arg | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PYY | ENST00000692052.1 | c.185A>G | p.Gln62Arg | missense_variant | 2/4 | NM_001394028.1 | P1 | ||
PYY | ENST00000360085.6 | c.185A>G | p.Gln62Arg | missense_variant | 5/7 | 1 | P1 | ||
PYY | ENST00000592796.2 | c.185A>G | p.Gln62Arg | missense_variant | 2/3 | 1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000818 AC: 2AN: 244558Hom.: 0 AF XY: 0.00000750 AC XY: 1AN XY: 133318
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459920Hom.: 0 Cov.: 50 AF XY: 0.00000138 AC XY: 1AN XY: 726222
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at