6-29397207-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013936.4(OR12D2):āc.508A>Cā(p.Asn170His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,613,072 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_013936.4 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 |
---|---|---|---|---|---|---|---|---|
OR12D2 | NM_013936.4 | c.508A>C | p.Asn170His | missense_variant | 2/2 | ENST00000642051.1 | NP_039224.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR12D2 | ENST00000642051.1 | c.508A>C | p.Asn170His | missense_variant | 2/2 | NM_013936.4 | ENSP00000493463 | P1 | ||
OR12D2 | ENST00000623183.1 | c.508A>C | p.Asn170His | missense_variant | 1/1 | ENSP00000485112 | P1 | |||
OR5V1 | ENST00000377154.1 | c.-83+25400T>G | intron_variant | ENSP00000366359 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000812 AC: 2AN: 246170Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134136
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1460778Hom.: 1 Cov.: 44 AF XY: 0.0000124 AC XY: 9AN XY: 726702
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152294Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74466
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 06, 2023 | The c.508A>C (p.N170H) alteration is located in exon 1 (coding exon 1) of the OR12D2 gene. This alteration results from a A to C substitution at nucleotide position 508, causing the asparagine (N) at amino acid position 170 to be replaced by a histidine (H). 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