rs17316625
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_001004486.1(OR13H1):āc.549C>Gā(p.Leu183=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.327 in 1,207,438 control chromosomes in the GnomAD database, including 46,625 homozygotes. There are 130,590 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001004486.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR13H1 | NM_001004486.1 | c.549C>G | p.Leu183= | synonymous_variant | 1/1 | ENST00000338616.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR13H1 | ENST00000338616.6 | c.549C>G | p.Leu183= | synonymous_variant | 1/1 | NM_001004486.1 | P1 | ||
IGSF1 | ENST00000370904.6 | c.-913+34046G>C | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.243 AC: 26935AN: 110974Hom.: 3074 Cov.: 22 AF XY: 0.237 AC XY: 7877AN XY: 33190
GnomAD3 exomes AF: 0.277 AC: 50511AN: 182641Hom.: 4969 AF XY: 0.298 AC XY: 20011AN XY: 67237
GnomAD4 exome AF: 0.336 AC: 368274AN: 1096415Hom.: 43553 Cov.: 34 AF XY: 0.339 AC XY: 122706AN XY: 362007
GnomAD4 genome ? AF: 0.243 AC: 26930AN: 111023Hom.: 3072 Cov.: 22 AF XY: 0.237 AC XY: 7884AN XY: 33249
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at