7-100721003-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_000799.4(EPO):c.13+10C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000182 in 1,576,918 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_000799.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00112 AC: 170AN: 151986Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000202 AC: 37AN: 183170Hom.: 0 AF XY: 0.000167 AC XY: 17AN XY: 101520
GnomAD4 exome AF: 0.0000828 AC: 118AN: 1424814Hom.: 0 Cov.: 31 AF XY: 0.0000722 AC XY: 51AN XY: 706336
GnomAD4 genome AF: 0.00111 AC: 169AN: 152104Hom.: 1 Cov.: 32 AF XY: 0.00108 AC XY: 80AN XY: 74352
ClinVar
Submissions by phenotype
EPO-related disorder Benign:1
This variant is classified as likely 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