7-100722039-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_000799.4(EPO):c.237G>A(p.Lys79Lys) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000435 in 1,589,610 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_000799.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00231 AC: 351AN: 151922Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000631 AC: 145AN: 229840Hom.: 1 AF XY: 0.000401 AC XY: 50AN XY: 124548
GnomAD4 exome AF: 0.000238 AC: 342AN: 1437582Hom.: 3 Cov.: 32 AF XY: 0.000197 AC XY: 141AN XY: 715220
GnomAD4 genome AF: 0.00230 AC: 349AN: 152028Hom.: 1 Cov.: 32 AF XY: 0.00218 AC XY: 162AN XY: 74316
ClinVar
Submissions by phenotype
EPO-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). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at