ENST00000641760.1:c.401T>C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000641760.1(OR4P4):c.401T>C(p.Met134Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000295 in 1,353,738 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M134V) has been classified as Likely benign.
Frequency
Consequence
ENST00000641760.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 139048Hom.: 0 Cov.: 25 FAILED QC
GnomAD3 exomes AF: 0.0000221 AC: 5AN: 226284Hom.: 1 AF XY: 0.0000326 AC XY: 4AN XY: 122590
GnomAD4 exome AF: 0.00000295 AC: 4AN: 1353738Hom.: 1 Cov.: 31 AF XY: 0.00000446 AC XY: 3AN XY: 673294
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 139048Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 67470
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.401T>C (p.M134T) alteration is located in exon 1 (coding exon 1) of the OR4P4 gene. This alteration results from a T to C substitution at nucleotide position 401, causing the methionine (M) at amino acid position 134 to be replaced by a threonine (T). 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