17-43953188-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PP3_Moderate
The NM_001394028.1(PYY):āc.190T>Gā(p.Tyr64Asp) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001394028.1 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PYY | NM_001394028.1 | c.190T>G | p.Tyr64Asp | missense_variant, splice_region_variant | Exon 3 of 4 | ENST00000692052.1 | NP_001380957.1 | |
PYY | NM_004160.6 | c.190T>G | p.Tyr64Asp | missense_variant, splice_region_variant | Exon 6 of 7 | NP_004151.4 | ||
PYY | NM_001394029.1 | c.190T>G | p.Tyr64Asp | missense_variant, splice_region_variant | Exon 3 of 3 | NP_001380958.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PYY | ENST00000692052.1 | c.190T>G | p.Tyr64Asp | missense_variant, splice_region_variant | Exon 3 of 4 | NM_001394028.1 | ENSP00000509262.1 | |||
PYY | ENST00000360085.6 | c.190T>G | p.Tyr64Asp | missense_variant, splice_region_variant | Exon 6 of 7 | 1 | ENSP00000353198.1 | |||
PYY | ENST00000592796.2 | c.190T>G | p.Tyr64Asp | missense_variant, splice_region_variant | Exon 3 of 3 | 1 | ENSP00000467310.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 150850Hom.: 0 Cov.: 33 FAILED QC
GnomAD3 exomes AF: 0.00000801 AC: 2AN: 249662Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135598
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000550 AC: 8AN: 1453294Hom.: 0 Cov.: 48 AF XY: 0.00000691 AC XY: 5AN XY: 723378
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000662 AC: 1AN: 150982Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 73816
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.190T>G (p.Y64D) alteration is located in exon 6 (coding exon 2) of the PYY gene. This alteration results from a T to G substitution at nucleotide position 190, causing the tyrosine (Y) at amino acid position 64 to be replaced by an aspartic acid (D). 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