Variant rs114772660 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_001372106.1(DNAH10):c.9199+9G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0596 in 1,611,892 control chromosomes in the GnomAD database, including 3,238 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.073 ( 466 hom., cov: 32)

Exomes 𝑓: 0.058 ( 2772 hom. )

Consequence

DNAH10
NM_001372106.1 intron

Scores

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:2

Conservation

PhyloP100: -0.788

Variant links:

Genes affected

DNAH10 (HGNC:2941): (dynein axonemal heavy chain 10) Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008]

DNAH10 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=-0.85).

BP6

Variant 12-123893445-G-A is Benign according to our data. Variant chr12-123893445-G-A is described in ClinVar as [Benign]. Clinvar id is 402619.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr12-123893445-G-A is described in Lovd as [Benign].

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.114 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
DNAH10	NM_001372106.1 linkuse as main transcript	c.9199+9G>A		intron_variant		ENST00000673944.1

Ensembl

Gene	Transcript	HGVSc	Effect	TSL	MANE	Appris	UniProt
DNAH10	ENST00000673944.1 linkuse as main transcript	c.9199+9G>A	intron_variant		NM_001372106.1	P1
DNAH10	ENST00000409039.8 linkuse as main transcript	c.9028+9G>A	intron_variant	5
DNAH10	ENST00000638045.1 linkuse as main transcript	c.8845+9G>A	intron_variant	5			Q8IVF4-1

Frequencies

GnomAD3 genomes

AF:

0.0726

AC:

11045

AN:

152144

Hom.:

466

Cov.:

show subpopulations

Gnomad AFR

AF:

0.117

Gnomad AMI

AF:

0.106

Gnomad AMR

AF:

0.0492

Gnomad ASJ

AF:

0.0265

Gnomad EAS

AF:

0.00135

Gnomad SAS

AF:

0.0271

Gnomad FIN

AF:

0.0695

Gnomad MID

AF:

0.0633

Gnomad NFE

AF:

0.0620

Gnomad OTH

AF:

0.0740

GnomAD3 exomes

AF:

0.0533

AC:

13134

AN:

246320

Hom.:

468

AF XY:

0.0531

AC XY:

7116

AN XY:

133956

show subpopulations

Gnomad AFR exome

AF:

0.121

Gnomad AMR exome

AF:

0.0317

Gnomad ASJ exome

AF:

0.0259

Gnomad EAS exome

AF:

0.000891

Gnomad SAS exome

AF:

0.0285

Gnomad FIN exome

AF:

0.0671

Gnomad NFE exome

AF:

0.0656

Gnomad OTH exome

AF:

0.0590

GnomAD4 exome

AF:

0.0583

AC:

85060

AN:

1459630

Hom.:

2772

Cov.:

AF XY:

0.0574

AC XY:

41700

AN XY:

726106

show subpopulations

Gnomad4 AFR exome

AF:

0.121

Gnomad4 AMR exome

AF:

0.0335

Gnomad4 ASJ exome

AF:

0.0274

Gnomad4 EAS exome

AF:

0.000705

Gnomad4 SAS exome

AF:

0.0299

Gnomad4 FIN exome

AF:

0.0711

Gnomad4 NFE exome

AF:

0.0618

Gnomad4 OTH exome

AF:

0.0572

GnomAD4 genome

AF:

0.0726

AC:

11058

AN:

152262

Hom.:

466

Cov.:

AF XY:

0.0703

AC XY:

5234

AN XY:

74458

show subpopulations

Gnomad4 AFR

AF:

0.117

Gnomad4 AMR

AF:

0.0492

Gnomad4 ASJ

AF:

0.0265

Gnomad4 EAS

AF:

0.00135

Gnomad4 SAS

AF:

0.0269

Gnomad4 FIN

AF:

0.0695

Gnomad4 NFE

AF:

0.0620

Gnomad4 OTH

AF:

0.0732

Alfa

AF:

0.0599

Hom.:

Bravo

AF:

0.0738

Asia WGS

AF:

0.0260

AC:

AN:

3478

ClinVar

Significance: Benign

Submissions summary: Benign:2

Revision: criteria provided, multiple submitters, no conflicts

LINK: link

Submissions by phenotype

not specified

Benign:1

Benign, criteria provided, single submitter

clinical testing

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Mar 29, 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

not provided

Breakthrough Genomics, Breakthrough Genomics

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.85

CADD

Benign

2.2

DANN

Benign

0.36

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