chr6-29588449-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_007160.4(OR2H2):c.505G>A(p.Asp169Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000165 in 1,215,026 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_007160.4 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 |
---|---|---|---|---|---|---|---|
OR2H2 | NM_007160.4 | c.505G>A | p.Asp169Asn | missense_variant | 2/2 | ENST00000641840.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR2H2 | ENST00000641840.1 | c.505G>A | p.Asp169Asn | missense_variant | 2/2 | NM_007160.4 | P1 | ||
OR2H2 | ENST00000383640.4 | c.505G>A | p.Asp169Asn | missense_variant | 1/1 | P1 | |||
GABBR1 | ENST00000355973.7 | c.*2+15092C>T | intron_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000406 AC: 1AN: 246544Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134310
GnomAD4 exome AF: 0.00000165 AC: 2AN: 1215026Hom.: 0 Cov.: 18 AF XY: 0.00 AC XY: 0AN XY: 616656
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at