chr2-84529085-G-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP2BP4_Strong
The NM_001370.2(DNAH6):c.581G>T(p.Arg194Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000287 in 1,550,636 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R194C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001370.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH6 | NM_001370.2 | c.581G>T | p.Arg194Leu | missense_variant | 4/77 | ENST00000389394.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH6 | ENST00000389394.8 | c.581G>T | p.Arg194Leu | missense_variant | 4/77 | 5 | NM_001370.2 | P1 | |
DNAH6 | ENST00000494025.1 | n.229+11034G>T | intron_variant, non_coding_transcript_variant | 1 | |||||
DNAH6 | ENST00000468661.1 | n.454+3347G>T | intron_variant, non_coding_transcript_variant | 4 | |||||
DNAH6 | ENST00000476689.5 | n.536+3347G>T | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.000217 AC: 33AN: 151766Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.000230 AC: 36AN: 156698Hom.: 0 AF XY: 0.000193 AC XY: 16AN XY: 82892
GnomAD4 exome AF: 0.000295 AC: 412AN: 1398870Hom.: 1 Cov.: 33 AF XY: 0.000281 AC XY: 194AN XY: 689954
GnomAD4 genome AF: 0.000217 AC: 33AN: 151766Hom.: 0 Cov.: 30 AF XY: 0.000202 AC XY: 15AN XY: 74102
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 02, 2024 | The c.581G>T (p.R194L) alteration is located in exon 4 (coding exon 3) of the DNAH6 gene. This alteration results from a G to T substitution at nucleotide position 581, causing the arginine (R) at amino acid position 194 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at