NM_001004748.1:c.210G>T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001004748.1(OR51A2):c.210G>T(p.Met70Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004748.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR51A2 | NM_001004748.1 | c.210G>T | p.Met70Ile | missense_variant | Exon 1 of 1 | ENST00000380371.1 | NP_001004748.1 | |
MMP26 | NM_021801.5 | c.-144-32564C>A | intron_variant | Intron 2 of 7 | ENST00000380390.6 | NP_068573.2 | ||
MMP26 | NM_001384608.1 | c.-152-32766C>A | intron_variant | Intron 2 of 7 | NP_001371537.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR51A2 | ENST00000380371.1 | c.210G>T | p.Met70Ile | missense_variant | Exon 1 of 1 | 6 | NM_001004748.1 | ENSP00000369729.1 | ||
MMP26 | ENST00000380390.6 | c.-144-32564C>A | intron_variant | Intron 2 of 7 | 5 | NM_021801.5 | ENSP00000369753.1 | |||
MMP26 | ENST00000300762.2 | c.-152-32766C>A | intron_variant | Intron 2 of 7 | 1 | ENSP00000300762.2 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 11AN: 120756Hom.: 0 Cov.: 17 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000825 AC: 98AN: 1188394Hom.: 0 Cov.: 31 AF XY: 0.0000704 AC XY: 42AN XY: 596750
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000910 AC: 11AN: 120874Hom.: 0 Cov.: 17 AF XY: 0.0000854 AC XY: 5AN XY: 58552
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.210G>T (p.M70I) alteration is located in exon 1 (coding exon 1) of the OR51A2 gene. This alteration results from a G to T substitution at nucleotide position 210, causing the methionine (M) at amino acid position 70 to be replaced by an isoleucine (I). 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