chr17-43953375-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.109C>G(p.Arg37Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 1 in 1,612,464 control chromosomes in the GnomAD database, including 806,224 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 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.109C>G | p.Arg37Gly | missense_variant | 2/4 | ENST00000692052.1 | |
PYY | NM_004160.6 | c.109C>G | p.Arg37Gly | missense_variant | 5/7 | ||
PYY | NM_001394029.1 | c.109C>G | p.Arg37Gly | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PYY | ENST00000692052.1 | c.109C>G | p.Arg37Gly | missense_variant | 2/4 | NM_001394028.1 | P1 | ||
PYY | ENST00000360085.6 | c.109C>G | p.Arg37Gly | missense_variant | 5/7 | 1 | P1 | ||
PYY | ENST00000592796.2 | c.109C>G | p.Arg37Gly | missense_variant | 2/3 | 1 |
Frequencies
GnomAD3 genomes ? AF: 1.00 AC: 152167AN: 152168Hom.: 76083 Cov.: 33
GnomAD3 exomes AF: 1.00 AC: 244799AN: 244802Hom.: 122398 AF XY: 1.00 AC XY: 133502AN XY: 133502
GnomAD4 exome AF: 1.00 AC: 1460171AN: 1460178Hom.: 730082 Cov.: 69 AF XY: 1.00 AC XY: 726393AN XY: 726396
GnomAD4 genome ? AF: 1.00 AC: 152285AN: 152286Hom.: 76142 Cov.: 33 AF XY: 1.00 AC XY: 74441AN XY: 74442
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 19, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at