7-100721598-G-A
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_000799.4(EPO):c.54G>A(p.Ser18Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000442 in 1,613,878 control chromosomes in the GnomAD database, including 5 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 -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00229 AC: 348AN: 152136Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000630 AC: 158AN: 250728Hom.: 1 AF XY: 0.000450 AC XY: 61AN XY: 135556
GnomAD4 exome AF: 0.000251 AC: 367AN: 1461624Hom.: 4 Cov.: 31 AF XY: 0.000216 AC XY: 157AN XY: 727142
GnomAD4 genome AF: 0.00227 AC: 346AN: 152254Hom.: 1 Cov.: 32 AF XY: 0.00218 AC XY: 162AN XY: 74434
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