NM_001004137.1:c.291C>T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_001004137.1(OR52M1):c.291C>T(p.Asp97Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.492 in 1,613,842 control chromosomes in the GnomAD database, including 198,636 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001004137.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.486 AC: 73868AN: 151974Hom.: 18253 Cov.: 32
GnomAD3 exomes AF: 0.451 AC: 113179AN: 251038Hom.: 26931 AF XY: 0.462 AC XY: 62665AN XY: 135664
GnomAD4 exome AF: 0.493 AC: 720375AN: 1461750Hom.: 180374 Cov.: 63 AF XY: 0.494 AC XY: 358887AN XY: 727156
GnomAD4 genome AF: 0.486 AC: 73918AN: 152092Hom.: 18262 Cov.: 32 AF XY: 0.481 AC XY: 35755AN XY: 74332
ClinVar
Submissions by phenotype
OR52M1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at