1-247815004-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001001966.2(OR14A16):c.726C>A(p.His242Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000428 in 1,614,000 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001966.2 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR14A16 | NM_001001966.2 | c.726C>A | p.His242Gln | missense_variant | 3/3 | ENST00000641093.1 | NP_001001966.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR14A16 | ENST00000641093.1 | c.726C>A | p.His242Gln | missense_variant | 3/3 | NM_001001966.2 | ENSP00000493024.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000876 AC: 22AN: 251146Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135746
GnomAD4 exome AF: 0.0000445 AC: 65AN: 1461698Hom.: 1 Cov.: 34 AF XY: 0.0000481 AC XY: 35AN XY: 727152
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152302Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74480
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 17, 2023 | The c.726C>A (p.H242Q) alteration is located in exon 1 (coding exon 1) of the OR14A16 gene. This alteration results from a C to A substitution at nucleotide position 726, causing the histidine (H) at amino acid position 242 to be replaced by a glutamine (Q). 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