chr14-19876700-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001005501.2(OR4K2):c.433G>T(p.Val145Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,834 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 (★).
Frequency
Consequence
NM_001005501.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR4K2 | NM_001005501.2 | c.433G>T | p.Val145Leu | missense_variant | 2/2 | ENST00000641885.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR4K2 | ENST00000641885.1 | c.433G>T | p.Val145Leu | missense_variant | 2/2 | NM_001005501.2 | P1 | ||
OR4K2 | ENST00000298642.2 | c.433G>T | p.Val145Leu | missense_variant | 1/1 | P1 | |||
OR4K2 | ENST00000641522.1 | n.1133+316G>T | intron_variant, non_coding_transcript_variant | ||||||
OR4K2 | ENST00000641785.1 | n.1133+316G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes Cov.: 35
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251196Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135734
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461834Hom.: 0 Cov.: 36 AF XY: 0.00000413 AC XY: 3AN XY: 727220
GnomAD4 genome Cov.: 35
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 15, 2023 | The c.433G>T (p.V145L) alteration is located in exon 1 (coding exon 1) of the OR4K2 gene. This alteration results from a G to T substitution at nucleotide position 433, causing the valine (V) at amino acid position 145 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