11-4769908-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001004752.2(OR51F1):c.31C>G(p.Leu11Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000101 in 1,588,040 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/23 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004752.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR51F1 | NM_001004752.2 | c.31C>G | p.Leu11Val | missense_variant | 1/1 | ENST00000624103.2 | |
MMP26 | NM_021801.5 | c.-145+2567G>C | intron_variant | ENST00000380390.6 | |||
MMP26 | NM_001384608.1 | c.-153+2567G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR51F1 | ENST00000624103.2 | c.31C>G | p.Leu11Val | missense_variant | 1/1 | NM_001004752.2 | P1 | ||
MMP26 | ENST00000380390.6 | c.-145+2567G>C | intron_variant | 5 | NM_021801.5 | P1 | |||
MMP26 | ENST00000300762.2 | c.-153+2567G>C | intron_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000204 AC: 5AN: 245602Hom.: 0 AF XY: 0.00000750 AC XY: 1AN XY: 133372
GnomAD4 exome AF: 0.0000104 AC: 15AN: 1435850Hom.: 0 Cov.: 26 AF XY: 0.00000838 AC XY: 6AN XY: 715650
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 13, 2023 | The c.10C>G (p.L4V) alteration is located in exon 1 (coding exon 1) of the OR51F1 gene. This alteration results from a C to G substitution at nucleotide position 10, causing the leucine (L) at amino acid position 4 to be replaced by a valine (V). 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