17-43953163-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001394028.1(PYY):c.215C>G(p.Thr72Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.653 in 1,613,580 control chromosomes in the GnomAD database, including 349,468 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001394028.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PYY | NM_001394028.1 | c.215C>G | p.Thr72Arg | missense_variant | 3/4 | ENST00000692052.1 | |
PYY | NM_004160.6 | c.215C>G | p.Thr72Arg | missense_variant | 6/7 | ||
PYY | NM_001394029.1 | c.215C>G | p.Thr72Arg | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PYY | ENST00000692052.1 | c.215C>G | p.Thr72Arg | missense_variant | 3/4 | NM_001394028.1 | P1 | ||
PYY | ENST00000360085.6 | c.215C>G | p.Thr72Arg | missense_variant | 6/7 | 1 | P1 | ||
PYY | ENST00000592796.2 | c.215C>G | p.Thr72Arg | missense_variant | 3/3 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.594 AC: 90306AN: 151918Hom.: 27739 Cov.: 32
GnomAD3 exomes AF: 0.629 AC: 157612AN: 250384Hom.: 51111 AF XY: 0.641 AC XY: 86986AN XY: 135666
GnomAD4 exome AF: 0.659 AC: 963228AN: 1461544Hom.: 321719 Cov.: 68 AF XY: 0.662 AC XY: 481302AN XY: 727082
GnomAD4 genome ? AF: 0.594 AC: 90328AN: 152036Hom.: 27749 Cov.: 32 AF XY: 0.598 AC XY: 44403AN XY: 74310
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 09, 2018 | This variant is associated with the following publications: (PMID: 15983231) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at