11-124029693-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001004464.2(OR10G8):c.71C>T(p.Pro24Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000119 in 1,613,958 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004464.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR10G8 | NM_001004464.2 | c.71C>T | p.Pro24Leu | missense_variant | 2/2 | ENST00000641224.2 | NP_001004464.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR10G8 | ENST00000641224.2 | c.71C>T | p.Pro24Leu | missense_variant | 2/2 | NM_001004464.2 | ENSP00000493087.1 | |||
OR10G8 | ENST00000431524.1 | c.71C>T | p.Pro24Leu | missense_variant | 1/1 | 6 | ENSP00000389072.1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152170Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000223 AC: 56AN: 251136Hom.: 0 AF XY: 0.000287 AC XY: 39AN XY: 135730
GnomAD4 exome AF: 0.000125 AC: 182AN: 1461670Hom.: 0 Cov.: 31 AF XY: 0.000158 AC XY: 115AN XY: 727144
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152288Hom.: 1 Cov.: 32 AF XY: 0.0000671 AC XY: 5AN XY: 74468
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 17, 2021 | The c.71C>T (p.P24L) alteration is located in exon 1 (coding exon 1) of the OR10G8 gene. This alteration results from a C to T substitution at nucleotide position 71, causing the proline (P) at amino acid position 24 to be replaced by a leucine (L). 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