5-96785820-C-T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_ModerateBP6_ModerateBP7BA1
The NM_001040458.3(ERAP1):c.1911G>A(p.Ala637Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.566 in 1,613,624 control chromosomes in the GnomAD database, including 259,719 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001040458.3 synonymous
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: 0.562 AC: 85363AN: 151846Hom.: 24076 Cov.: 31
GnomAD3 exomes AF: 0.554 AC: 139079AN: 251214Hom.: 38758 AF XY: 0.551 AC XY: 74786AN XY: 135766
GnomAD4 exome AF: 0.566 AC: 827802AN: 1461660Hom.: 235606 Cov.: 53 AF XY: 0.565 AC XY: 410624AN XY: 727118
GnomAD4 genome AF: 0.562 AC: 85449AN: 151964Hom.: 24113 Cov.: 31 AF XY: 0.562 AC XY: 41721AN XY: 74282
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 74% of patients studied by a panel of primary immunodeficiencies. Number of patients: 65. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at