5-66021353-C-T
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_001253697.2(ERBIN):c.565C>T(p.Leu189Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.826 in 1,599,706 control chromosomes in the GnomAD database, including 555,088 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001253697.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.734 AC: 111448AN: 151746Hom.: 42661 Cov.: 32
GnomAD3 exomes AF: 0.761 AC: 187314AN: 246270Hom.: 74245 AF XY: 0.779 AC XY: 103961AN XY: 133412
GnomAD4 exome AF: 0.836 AC: 1209679AN: 1447842Hom.: 512421 Cov.: 32 AF XY: 0.837 AC XY: 603518AN XY: 720736
GnomAD4 genome AF: 0.734 AC: 111471AN: 151864Hom.: 42667 Cov.: 32 AF XY: 0.732 AC XY: 54326AN XY: 74214
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 91% of patients studied by a panel of primary immunodeficiencies. Number of patients: 80. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at