15-92900812-C-CT
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2
The NM_001271.4(CHD2):c.-83dupT variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000427 in 398,138 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001271.4 5_prime_UTR
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: 0.0000725 AC: 11AN: 151624Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.0000243 AC: 6AN: 246514Hom.: 0 Cov.: 0 AF XY: 0.0000239 AC XY: 3AN XY: 125546
GnomAD4 genome AF: 0.0000725 AC: 11AN: 151624Hom.: 0 Cov.: 31 AF XY: 0.0000676 AC XY: 5AN XY: 74014
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at