1-225831799-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_001136018.4(EPHX1):āc.204T>Cā(p.Asp68Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0181 in 1,614,094 control chromosomes in the GnomAD database, including 321 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001136018.4 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: 0.0119 AC: 1818AN: 152148Hom.: 18 Cov.: 32
GnomAD3 exomes AF: 0.0116 AC: 2911AN: 251488Hom.: 21 AF XY: 0.0117 AC XY: 1589AN XY: 135922
GnomAD4 exome AF: 0.0187 AC: 27329AN: 1461828Hom.: 303 Cov.: 32 AF XY: 0.0181 AC XY: 13175AN XY: 727222
GnomAD4 genome AF: 0.0119 AC: 1819AN: 152266Hom.: 18 Cov.: 32 AF XY: 0.0106 AC XY: 791AN XY: 74452
ClinVar
Submissions by phenotype
EPHX1-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