NM_000799.4:c.250G>A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP6BS2
The NM_000799.4(EPO):c.250G>A(p.Gly84Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00118 in 1,589,690 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/23 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_000799.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00160 AC: 244AN: 152080Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000996 AC: 225AN: 225868Hom.: 0 AF XY: 0.000890 AC XY: 110AN XY: 123608
GnomAD4 exome AF: 0.00114 AC: 1637AN: 1437494Hom.: 2 Cov.: 32 AF XY: 0.00114 AC XY: 814AN XY: 715212
GnomAD4 genome AF: 0.00160 AC: 244AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.00141 AC XY: 105AN XY: 74414
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:2
BS4_supporting, BP4, BP5, PM2_moderate -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at