chr17-39669643-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002686.4(PNMT):c.217C>T(p.Arg73Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000731 in 1,613,946 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002686.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PNMT | NM_002686.4 | c.217C>T | p.Arg73Cys | missense_variant | Exon 2 of 3 | ENST00000269582.3 | NP_002677.1 | |
PNMT | XM_011524909.3 | c.-78C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 2 of 3 | XP_011523211.1 | |||
PNMT | XM_011524909.3 | c.-78C>T | 5_prime_UTR_variant | Exon 2 of 3 | XP_011523211.1 | |||
PNMT | NR_073461.2 | n.67C>T | non_coding_transcript_exon_variant | Exon 2 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PNMT | ENST00000269582.3 | c.217C>T | p.Arg73Cys | missense_variant | Exon 2 of 3 | 1 | NM_002686.4 | ENSP00000269582.2 | ||
PNMT | ENST00000394246 | c.-78C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 2 of 3 | 2 | ENSP00000377791.1 | ||||
PNMT | ENST00000581428.1 | c.217C>T | p.Arg73Cys | missense_variant | Exon 2 of 2 | 2 | ENSP00000464234.1 | |||
PNMT | ENST00000394246 | c.-78C>T | 5_prime_UTR_variant | Exon 2 of 3 | 2 | ENSP00000377791.1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000836 AC: 21AN: 251064Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135858
GnomAD4 exome AF: 0.0000732 AC: 107AN: 1461688Hom.: 1 Cov.: 32 AF XY: 0.0000894 AC XY: 65AN XY: 727162
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74440
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.217C>T (p.R73C) alteration is located in exon 2 (coding exon 2) of the PNMT gene. This alteration results from a C to T substitution at nucleotide position 217, causing the arginine (R) at amino acid position 73 to be replaced by a cysteine (C). 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