7-144074693-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001386096.1(OR2A25):āc.474T>Gā(p.His158Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000595 in 1,614,142 control chromosomes in the GnomAD database, including 1 homozygotes. 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 (ā ).
Frequency
Consequence
NM_001386096.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR2A25 | NM_001386096.1 | c.474T>G | p.His158Gln | missense_variant | 2/2 | ENST00000641663.1 | |
OR2A25 | NM_001004488.2 | c.474T>G | p.His158Gln | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR2A25 | ENST00000641663.1 | c.474T>G | p.His158Gln | missense_variant | 2/2 | NM_001386096.1 | P1 | ||
OR2A25 | ENST00000408898.2 | c.474T>G | p.His158Gln | missense_variant | 1/1 | P1 | |||
OR2A25 | ENST00000641441.1 | c.474T>G | p.His158Gln | missense_variant | 2/2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000197 AC: 30AN: 152154Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000640 AC: 16AN: 250160Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135684
GnomAD4 exome AF: 0.0000438 AC: 64AN: 1461870Hom.: 1 Cov.: 52 AF XY: 0.0000550 AC XY: 40AN XY: 727232
GnomAD4 genome AF: 0.000210 AC: 32AN: 152272Hom.: 0 Cov.: 33 AF XY: 0.000228 AC XY: 17AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 16, 2021 | The c.474T>G (p.H158Q) alteration is located in exon 1 (coding exon 1) of the OR2A25 gene. This alteration results from a T to G substitution at nucleotide position 474, causing the histidine (H) at amino acid position 158 to be replaced by a glutamine (Q). 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