rs144860976
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_020964.3(EPG5):āc.4039A>Cā(p.Asn1347His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00529 in 1,614,114 control chromosomes in the GnomAD database, including 33 homozygotes. 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_020964.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00398 AC: 605AN: 152144Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00433 AC: 1080AN: 249410Hom.: 7 AF XY: 0.00460 AC XY: 623AN XY: 135340
GnomAD4 exome AF: 0.00543 AC: 7941AN: 1461852Hom.: 32 Cov.: 31 AF XY: 0.00550 AC XY: 3997AN XY: 727226
GnomAD4 genome AF: 0.00397 AC: 605AN: 152262Hom.: 1 Cov.: 32 AF XY: 0.00390 AC XY: 290AN XY: 74444
ClinVar
Submissions by phenotype
not provided Benign:4
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EPG5: BP4, BS2 -
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Inborn genetic diseases Uncertain:1
There is insufficient or conflicting evidence for classification of this alteration. -
not specified Benign:1
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EPG5-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). -
Vici syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at