NM_001206927.2(DNAH8):c.10773C>G (p.Phe3591Leu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 27, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003325489.6

Allele description [Variation Report for NM_001206927.2(DNAH8):c.10773C>G (p.Phe3591Leu)]

NM_001206927.2(DNAH8):c.10773C>G (p.Phe3591Leu)

Genes:

DNAH8-AS1:DNAH8 antisense RNA 1 [Gene - HGNC]
DNAH8:dynein axonemal heavy chain 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.2

Genomic location:

Preferred name:

NM_001206927.2(DNAH8):c.10773C>G (p.Phe3591Leu)

HGVS:

NC_000006.12:g.38923168C>G
NG_041805.1:g.212828C>G
NM_001206927.2:c.10773C>GMANE SELECT
NM_001371.4:c.10122C>G
NP_001193856.1:p.Phe3591Leu
NP_001362.2:p.Phe3374Leu
NC_000006.11:g.38890944C>G
NM_001206927.1:c.10773C>G
NR_038401.1:n.699G>C

Protein change:

F3374L

Links:

dbSNP: rs147574550

NCBI 1000 Genomes Browser:

rs147574550

Molecular consequence:

NM_001206927.2:c.10773C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371.4:c.10122C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_038401.1:n.699G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Tssr41978 AND (alive[prop]) (0)
Gene
nsv952978 (0)
Conserved Domains
Myodes glareolus deafness autosomal recessive 59 (dfnb59) gene, exons 6, 7 and p...
Myodes glareolus deafness autosomal recessive 59 (dfnb59) gene, exons 6, 7 and partial cds
gi|365927375|gb|JN899069.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004032017	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004032017

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 27, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV004032017.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Reported with a second DNAH8 variant on the opposite allele (in trans) in a patient with dextrocardia, atrioventricular septal defect, asplenia, and failure to thrive in published literature (Reuter et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32037394)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine