Variant 5-13814573-T-C details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1

The NM_001369.3(DNAH5):c.7230+32A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.219 in 1,607,442 control chromosomes in the GnomAD database, including 41,242 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.24 ( 4544 hom., cov: 32)

Exomes 𝑓: 0.22 ( 36698 hom. )

Consequence

DNAH5
NM_001369.3 intron

Scores

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:4

Conservation

PhyloP100: 0.686

Variant links:

Genes affected

DNAH5 (HGNC:2950): (dynein axonemal heavy chain 5) This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]

DNAH5 links:

DNAH5 (HGNC:):

DNAH5 links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -20 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.66).

BP6

Variant 5-13814573-T-C is Benign according to our data. Variant chr5-13814573-T-C is described in ClinVar as [Benign]. Clinvar id is 258057.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.

BA1

GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.522 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
DNAH5	NM_001369.3 linkuse as main transcript	c.7230+32A>G		intron_variant		ENST00000265104.5	NP_001360.1	Q8TE73

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DNAH5	ENST00000265104.5 linkuse as main transcript	c.7230+32A>G		intron_variant		1	NM_001369.3	ENSP00000265104.4		Q8TE73
DNAH5	ENST00000681290.1 linkuse as main transcript	c.7185+32A>G		intron_variant				ENSP00000505288.1		A0A7P0Z455

Frequencies

GnomAD3 genomes

AF:

0.238

AC:

36189

AN:

152032

Hom.:

4542

Cov.:

show subpopulations

Gnomad AFR

AF:

0.278

Gnomad AMI

AF:

0.333

Gnomad AMR

AF:

0.208

Gnomad ASJ

AF:

0.165

Gnomad EAS

AF:

0.539

Gnomad SAS

AF:

0.185

Gnomad FIN

AF:

0.193

Gnomad MID

AF:

0.155

Gnomad NFE

AF:

0.212

Gnomad OTH

AF:

0.233

GnomAD3 exomes

AF:

0.229

AC:

57074

AN:

249230

Hom.:

7656

AF XY:

0.224

AC XY:

30215

AN XY:

135186

show subpopulations

Gnomad AFR exome

AF:

0.293

Gnomad AMR exome

AF:

0.195

Gnomad ASJ exome

AF:

0.155

Gnomad EAS exome

AF:

0.552

Gnomad SAS exome

AF:

0.166

Gnomad FIN exome

AF:

0.192

Gnomad NFE exome

AF:

0.210

Gnomad OTH exome

AF:

0.212

GnomAD4 exome

AF:

0.217

AC:

315873

AN:

1455292

Hom.:

36698

Cov.:

AF XY:

0.215

AC XY:

155841

AN XY:

724368

show subpopulations

Gnomad4 AFR exome

AF:

0.280

Gnomad4 AMR exome

AF:

0.200

Gnomad4 ASJ exome

AF:

0.158

Gnomad4 EAS exome

AF:

0.498

Gnomad4 SAS exome

AF:

0.168

Gnomad4 FIN exome

AF:

0.196

Gnomad4 NFE exome

AF:

0.212

Gnomad4 OTH exome

AF:

0.220

GnomAD4 genome

AF:

0.238

AC:

36218

AN:

152150

Hom.:

4544

Cov.:

AF XY:

0.235

AC XY:

17510

AN XY:

74384

show subpopulations

Gnomad4 AFR

AF:

0.278

Gnomad4 AMR

AF:

0.208

Gnomad4 ASJ

AF:

0.165

Gnomad4 EAS

AF:

0.538

Gnomad4 SAS

AF:

0.184

Gnomad4 FIN

AF:

0.193

Gnomad4 NFE

AF:

0.212

Gnomad4 OTH

AF:

0.232

Alfa

AF:

0.220

Hom.:

699

Bravo

AF:

0.246

Asia WGS

AF:

0.316

AC:

1099

AN:

3478

ClinVar

Significance: Benign

Submissions summary: Benign:4

Revision: criteria provided, multiple submitters, no conflicts

LINK: link

Submissions by phenotype

not provided

Benign:2

Benign, criteria provided, single submitter	not provided	Breakthrough Genomics, Breakthrough Genomics	-	- -
Benign, criteria provided, single submitter	clinical testing	GeneDx	Nov 11, 2018	- -

not specified

Benign:1

Benign, criteria provided, single submitter

clinical testing

PreventionGenetics, part of Exact Sciences

- -

Primary ciliary dyskinesia 3

Benign:1

Benign, criteria provided, single submitter

clinical testing

Pars Genome Lab

Jun 15, 2021

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.66

CADD

Benign

DANN

Benign

0.94

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.0

Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

LitVar

Other links and lift over