rs4832089
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 1P and 20B. PP2BP4_StrongBP6_Very_StrongBA1
The NM_001370.2(DNAH6):c.421G>A(p.Val141Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.946 in 1,549,342 control chromosomes in the GnomAD database, including 694,396 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001370.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH6 | NM_001370.2 | c.421G>A | p.Val141Met | missense_variant | 4/77 | ENST00000389394.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH6 | ENST00000389394.8 | c.421G>A | p.Val141Met | missense_variant | 4/77 | 5 | NM_001370.2 | P1 | |
DNAH6 | ENST00000494025.1 | n.229+10874G>A | intron_variant, non_coding_transcript_variant | 1 | |||||
DNAH6 | ENST00000468661.1 | n.454+3187G>A | intron_variant, non_coding_transcript_variant | 4 | |||||
DNAH6 | ENST00000476689.5 | n.536+3187G>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.933 AC: 140971AN: 151042Hom.: 65906 Cov.: 25
GnomAD3 exomes AF: 0.956 AC: 149258AN: 156142Hom.: 71392 AF XY: 0.957 AC XY: 79215AN XY: 82756
GnomAD4 exome AF: 0.948 AC: 1325338AN: 1398186Hom.: 628456 Cov.: 45 AF XY: 0.948 AC XY: 654069AN XY: 689624
GnomAD4 genome ? AF: 0.933 AC: 141059AN: 151156Hom.: 65940 Cov.: 25 AF XY: 0.935 AC XY: 68943AN XY: 73772
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 28, 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 - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Apr 17, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at