11-4882047-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004759.3(OR51T1):āc.148G>Cā(p.Val50Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,613,628 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (ā ).
Frequency
Consequence
NM_001004759.3 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR51T1 | NM_001004759.3 | c.148G>C | p.Val50Leu | missense_variant | 1/1 | ENST00000322049.1 | NP_001004759.2 | |
MMP26 | NM_021801.5 | c.-144-106021G>C | intron_variant | ENST00000380390.6 | NP_068573.2 | |||
MMP26 | NM_001384608.1 | c.-152-106223G>C | intron_variant | NP_001371537.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR51T1 | ENST00000322049.1 | c.148G>C | p.Val50Leu | missense_variant | 1/1 | 6 | NM_001004759.3 | ENSP00000322679.1 | ||
MMP26 | ENST00000380390.6 | c.-144-106021G>C | intron_variant | 5 | NM_021801.5 | ENSP00000369753.1 | ||||
MMP26 | ENST00000300762.2 | c.-152-106223G>C | intron_variant | 1 | ENSP00000300762.2 | |||||
OR51T1 | ENST00000380378.1 | c.229G>C | p.Val77Leu | missense_variant | 1/1 | 6 | ENSP00000369738.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151938Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251168Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135740
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461690Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727148
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151938Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74208
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 13, 2024 | The c.229G>C (p.V77L) alteration is located in exon 1 (coding exon 1) of the OR51T1 gene. This alteration results from a G to C substitution at nucleotide position 229, causing the valine (V) at amino acid position 77 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