11-4907678-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004749.2(OR51A7):c.309C>A(p.Phe103Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000126 in 1,613,908 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F103V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001004749.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR51A7 | NM_001004749.2 | c.309C>A | p.Phe103Leu | missense_variant | Exon 2 of 2 | ENST00000641490.1 | NP_001004749.1 | |
MMP26 | NM_021801.5 | c.-144-80390C>A | intron_variant | Intron 2 of 7 | ENST00000380390.6 | NP_068573.2 | ||
MMP26 | NM_001384608.1 | c.-152-80592C>A | intron_variant | Intron 2 of 7 | NP_001371537.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR51A7 | ENST00000641490.1 | c.309C>A | p.Phe103Leu | missense_variant | Exon 2 of 2 | NM_001004749.2 | ENSP00000493162.1 | |||
MMP26 | ENST00000380390.6 | c.-144-80390C>A | intron_variant | Intron 2 of 7 | 5 | NM_021801.5 | ENSP00000369753.1 | |||
MMP26 | ENST00000300762.2 | c.-152-80592C>A | intron_variant | Intron 2 of 7 | 1 | ENSP00000300762.2 | ||||
OR51A7 | ENST00000359350.5 | c.309C>A | p.Phe103Leu | missense_variant | Exon 1 of 1 | 6 | ENSP00000352305.4 |
Frequencies
GnomAD3 genomes AF: 0.000164 AC: 25AN: 152104Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000140 AC: 35AN: 250776Hom.: 0 AF XY: 0.000148 AC XY: 20AN XY: 135492
GnomAD4 exome AF: 0.000122 AC: 178AN: 1461804Hom.: 0 Cov.: 35 AF XY: 0.000138 AC XY: 100AN XY: 727216
GnomAD4 genome AF: 0.000164 AC: 25AN: 152104Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74288
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.309C>A (p.F103L) alteration is located in exon 1 (coding exon 1) of the OR51A7 gene. This alteration results from a C to A substitution at nucleotide position 309, causing the phenylalanine (F) at amino acid position 103 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