chr11-118339391-G-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000732.6(CD3D):c.450+60C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.731 in 1,585,296 control chromosomes in the GnomAD database, including 426,056 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000732.6 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.713 AC: 108216AN: 151738Hom.: 38976 Cov.: 29
GnomAD4 exome AF: 0.733 AC: 1050980AN: 1433442Hom.: 387059 Cov.: 26 AF XY: 0.734 AC XY: 524896AN XY: 715120
GnomAD4 genome AF: 0.713 AC: 108273AN: 151854Hom.: 38997 Cov.: 29 AF XY: 0.715 AC XY: 53044AN XY: 74224
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 80% of patients studied by a panel of primary immunodeficiencies. Number of patients: 77. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at