rs140700961
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001369.3(DNAH5):c.574G>A(p.Ala192Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000366 in 1,613,956 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001369.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH5 | NM_001369.3 | c.574G>A | p.Ala192Thr | missense_variant | 5/79 | ENST00000265104.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH5 | ENST00000265104.5 | c.574G>A | p.Ala192Thr | missense_variant | 5/79 | 1 | NM_001369.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152120Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000171 AC: 43AN: 251048Hom.: 0 AF XY: 0.000170 AC XY: 23AN XY: 135662
GnomAD4 exome AF: 0.000387 AC: 566AN: 1461836Hom.: 1 Cov.: 31 AF XY: 0.000360 AC XY: 262AN XY: 727222
GnomAD4 genome AF: 0.000158 AC: 24AN: 152120Hom.: 0 Cov.: 31 AF XY: 0.000108 AC XY: 8AN XY: 74296
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:2Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | May 01, 2020 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 15, 2021 | The p.A192T variant (also known as c.574G>A), located in coding exon 5 of the DNAH5 gene, results from a G to A substitution at nucleotide position 574. The alanine at codon 192 is replaced by threonine, an amino acid with some similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. - |
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Sep 01, 2017 | - - |
Primary ciliary dyskinesia 3 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Counsyl | May 08, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at