NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter) AND Male infertility

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001283735.2

Allele description [Variation Report for NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter)]

NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter)

Gene:

DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.2

Genomic location:

Preferred name:

NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter)

HGVS:

NC_000005.10:g.13841058T>A
NG_013081.2:g.108423A>T
NM_001369.3:c.5557A>TMANE SELECT
NP_001360.1:p.Lys1853Ter
NP_001360.1:p.Lys1853Ter
NC_000005.9:g.13841167T>A
NM_001369.2:c.5557A>T

Protein change:

K1853*

Links:

dbSNP: rs748618094

NCBI 1000 Genomes Browser:

rs748618094

Molecular consequence:

NM_001369.3:c.5557A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Male infertility
Identifiers:: MONDO: MONDO:0005372; MedGen: C0021364; Human Phenotype Ontology: HP:0003251

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001432678	MAGI's Lab - Research, MAGI Group	no assertion criteria provided	Pathogenic	germline	provider interpretation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001432678

MAGI's Lab - Research, MAGI Group

no assertion criteria provided

Pathogenic

germline

provider interpretation

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	provider interpretation

Details of each submission

From MAGI's Lab - Research, MAGI Group, SCV001432678.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	not provided

#	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: Sep 29, 2024

ClinVar

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