chr17-7797394-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_020877.5(DNAH2):c.7950-6C>T variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.613 in 1,613,764 control chromosomes in the GnomAD database, including 307,714 homozygotes. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_020877.5 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH2 | NM_020877.5 | c.7950-6C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000572933.6 | NP_065928.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH2 | ENST00000572933.6 | c.7950-6C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 2 | NM_020877.5 | ENSP00000458355 | P1 | |||
DNAH2 | ENST00000389173.6 | c.7950-6C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 2 | ENSP00000373825 | P1 |
Frequencies
GnomAD3 genomes AF: 0.542 AC: 82263AN: 151872Hom.: 23865 Cov.: 31
GnomAD3 exomes AF: 0.612 AC: 153822AN: 251384Hom.: 48030 AF XY: 0.613 AC XY: 83284AN XY: 135858
GnomAD4 exome AF: 0.620 AC: 906534AN: 1461774Hom.: 283839 Cov.: 64 AF XY: 0.620 AC XY: 450713AN XY: 727194
GnomAD4 genome AF: 0.541 AC: 82294AN: 151990Hom.: 23875 Cov.: 31 AF XY: 0.548 AC XY: 40665AN XY: 74270
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 29, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency - |
DNAH2-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 17, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
not provided Benign:1
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at