2-84797607-C-T
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_001370.2(DNAH6):c.11430C>T(p.Ile3810Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.125 in 1,550,648 control chromosomes in the GnomAD database, including 12,634 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001370.2 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: 0.123 AC: 18632AN: 152050Hom.: 1159 Cov.: 32
GnomAD3 exomes AF: 0.124 AC: 19401AN: 157092Hom.: 1336 AF XY: 0.121 AC XY: 10042AN XY: 83076
GnomAD4 exome AF: 0.125 AC: 174910AN: 1398480Hom.: 11474 Cov.: 31 AF XY: 0.124 AC XY: 85741AN XY: 689776
GnomAD4 genome AF: 0.122 AC: 18640AN: 152168Hom.: 1160 Cov.: 32 AF XY: 0.121 AC XY: 9020AN XY: 74398
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
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 -
DNAH6-related disorder Benign:1
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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at