17-43953302-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001394028.1(PYY):c.182G>T(p.Arg61Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000116 in 1,459,914 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001394028.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PYY | NM_001394028.1 | c.182G>T | p.Arg61Leu | missense_variant | Exon 2 of 4 | ENST00000692052.1 | NP_001380957.1 | |
PYY | NM_004160.6 | c.182G>T | p.Arg61Leu | missense_variant | Exon 5 of 7 | NP_004151.4 | ||
PYY | NM_001394029.1 | c.182G>T | p.Arg61Leu | missense_variant | Exon 2 of 3 | NP_001380958.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PYY | ENST00000692052.1 | c.182G>T | p.Arg61Leu | missense_variant | Exon 2 of 4 | NM_001394028.1 | ENSP00000509262.1 | |||
PYY | ENST00000360085.6 | c.182G>T | p.Arg61Leu | missense_variant | Exon 5 of 7 | 1 | ENSP00000353198.1 | |||
PYY | ENST00000592796.2 | c.182G>T | p.Arg61Leu | missense_variant | Exon 2 of 3 | 1 | ENSP00000467310.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000164 AC: 4AN: 244614Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133328
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1459914Hom.: 0 Cov.: 50 AF XY: 0.00000826 AC XY: 6AN XY: 726228
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.182G>T (p.R61L) alteration is located in exon 5 (coding exon 1) of the PYY gene. This alteration results from a G to T substitution at nucleotide position 182, causing the arginine (R) at amino acid position 61 to be replaced by a leucine (L). 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