chr5-152404898-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020167.5(NMUR2):c.216G>T(p.Gln72His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000235 in 1,613,940 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020167.5 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 |
---|---|---|---|---|---|---|---|
NMUR2 | NM_020167.5 | c.216G>T | p.Gln72His | missense_variant | 1/4 | ENST00000255262.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NMUR2 | ENST00000255262.4 | c.216G>T | p.Gln72His | missense_variant | 1/4 | 1 | NM_020167.5 | P1 | |
ENST00000663819.1 | n.183+29685C>A | intron_variant, non_coding_transcript_variant | |||||||
NMUR2 | ENST00000518933.1 | n.273-6754G>T | intron_variant, non_coding_transcript_variant | 3 | |||||
ENST00000663460.1 | n.216+29685C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.000243 AC: 37AN: 152052Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000187 AC: 47AN: 251468Hom.: 0 AF XY: 0.000169 AC XY: 23AN XY: 135912
GnomAD4 exome AF: 0.000234 AC: 342AN: 1461888Hom.: 0 Cov.: 34 AF XY: 0.000237 AC XY: 172AN XY: 727244
GnomAD4 genome ? AF: 0.000243 AC: 37AN: 152052Hom.: 0 Cov.: 31 AF XY: 0.000215 AC XY: 16AN XY: 74280
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 08, 2022 | The c.216G>T (p.Q72H) alteration is located in exon 1 (coding exon 1) of the NMUR2 gene. This alteration results from a G to T substitution at nucleotide position 216, causing the glutamine (Q) at amino acid position 72 to be replaced by a histidine (H). 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