19-9251632-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001079935.2(OR7E24):āc.589T>Cā(p.Cys197Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000185 in 1,613,338 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001079935.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR7E24 | ENST00000456448.3 | c.589T>C | p.Cys197Arg | missense_variant | Exon 1 of 1 | 6 | NM_001079935.2 | ENSP00000387523.1 | ||
OR7E24 | ENST00000641946.1 | c.577T>C | p.Cys193Arg | missense_variant | Exon 2 of 2 | ENSP00000494223.1 |
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000361 AC: 90AN: 249092Hom.: 0 AF XY: 0.000326 AC XY: 44AN XY: 135148
GnomAD4 exome AF: 0.000185 AC: 271AN: 1461116Hom.: 0 Cov.: 35 AF XY: 0.000209 AC XY: 152AN XY: 726880
GnomAD4 genome AF: 0.000184 AC: 28AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.589T>C (p.C197R) alteration is located in exon 1 (coding exon 1) of the OR7E24 gene. This alteration results from a T to C substitution at nucleotide position 589, causing the cysteine (C) at amino acid position 197 to be replaced by an arginine (R). 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