7-141919575-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001001656.3(OR9A4):āc.700C>Gā(p.Arg234Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000496 in 1,614,022 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001001656.3 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 |
---|---|---|---|---|---|---|---|
OR9A4 | NM_001001656.3 | c.700C>G | p.Arg234Gly | missense_variant | 2/2 | ENST00000641559.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR9A4 | ENST00000641559.1 | c.700C>G | p.Arg234Gly | missense_variant | 2/2 | NM_001001656.3 | P1 | ||
OR9A4 | ENST00000548136.1 | c.700C>G | p.Arg234Gly | missense_variant | 1/1 | P1 | |||
MGAM | ENST00000465654.5 | c.-180+11707C>G | intron_variant | 3 | |||||
MGAM | ENST00000497554.1 | n.37-10202C>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250718Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135716
GnomAD4 exome AF: 0.0000520 AC: 76AN: 1461880Hom.: 0 Cov.: 31 AF XY: 0.0000509 AC XY: 37AN XY: 727240
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152142Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 14, 2023 | The c.700C>G (p.R234G) alteration is located in exon 1 (coding exon 1) of the OR9A4 gene. This alteration results from a C to G substitution at nucleotide position 700, causing the arginine (R) at amino acid position 234 to be replaced by a glycine (G). 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