8-60801516-CT-CTT
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 2P and 16B. PVS1_ModerateBP6_Very_StrongBS1BS2
The NM_017780.4(CHD7):c.2377-3dupT variant causes a splice acceptor, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00123 in 1,514,516 control chromosomes in the GnomAD database, including 5 homozygotes. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_017780.4 splice_acceptor, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00409 AC: 615AN: 150544Hom.: 3 Cov.: 32
GnomAD4 exome AF: 0.000910 AC: 1241AN: 1363856Hom.: 2 Cov.: 29 AF XY: 0.000859 AC XY: 579AN XY: 674420
GnomAD4 genome AF: 0.00408 AC: 615AN: 150660Hom.: 3 Cov.: 32 AF XY: 0.00437 AC XY: 321AN XY: 73530
ClinVar
Submissions by phenotype
not specified Benign:2
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not provided Benign:2
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CHARGE syndrome Benign:1
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Inborn genetic diseases Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at