NM_000956.4:c.179G>A
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000956.4(PTGER2):c.179G>A(p.Arg60His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000883 in 1,584,876 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000956.4 missense
Scores
Clinical Significance
Conservation
Publications
- asthma, nasal polyps, and aspirin intoleranceInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PTGER2 | ENST00000245457.6 | c.179G>A | p.Arg60His | missense_variant | Exon 1 of 2 | 1 | NM_000956.4 | ENSP00000245457.5 | ||
PTGER2 | ENST00000557436.2 | c.-80+226G>A | intron_variant | Intron 1 of 2 | 3 | ENSP00000450933.1 | ||||
ENSG00000289424 | ENST00000726802.1 | n.355+410C>T | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152126Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000257 AC: 6AN: 233208 AF XY: 0.0000237 show subpopulations
GnomAD4 exome AF: 0.00000209 AC: 3AN: 1432632Hom.: 0 Cov.: 33 AF XY: 0.00000141 AC XY: 1AN XY: 708192 show subpopulations
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152244Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74428 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.179G>A (p.R60H) alteration is located in exon 1 (coding exon 1) of the PTGER2 gene. This alteration results from a G to A substitution at nucleotide position 179, causing the arginine (R) at amino acid position 60 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