17-43953335-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001394028.1(PYY):c.149C>T(p.Ala50Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,648 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A50A) has been classified as Benign.
Frequency
Consequence
NM_001394028.1 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 |
---|---|---|---|---|---|---|---|
PYY | NM_001394028.1 | c.149C>T | p.Ala50Val | missense_variant | 2/4 | ENST00000692052.1 | |
PYY | NM_004160.6 | c.149C>T | p.Ala50Val | missense_variant | 5/7 | ||
PYY | NM_001394029.1 | c.149C>T | p.Ala50Val | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PYY | ENST00000692052.1 | c.149C>T | p.Ala50Val | missense_variant | 2/4 | NM_001394028.1 | P1 | ||
PYY | ENST00000360085.6 | c.149C>T | p.Ala50Val | missense_variant | 5/7 | 1 | P1 | ||
PYY | ENST00000592796.2 | c.149C>T | p.Ala50Val | missense_variant | 2/3 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000406 AC: 1AN: 246240Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133954
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460648Hom.: 0 Cov.: 49 AF XY: 0.00 AC XY: 0AN XY: 726648
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 04, 2022 | The c.149C>T (p.A50V) alteration is located in exon 5 (coding exon 1) of the PYY gene. This alteration results from a C to T substitution at nucleotide position 149, causing the alanine (A) at amino acid position 50 to be replaced by a valine (V). 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