NM_001369.2(DNAH5):c.5557A>T (p.Lys1853Ter) AND Male infertility

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001283735.1

Allele description [Variation Report for NM_001369.2(DNAH5):c.5557A>T (p.Lys1853Ter)]

NM_001369.2(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_001369.2(DNAH5):c.5557A>T (p.Lys1853Ter)
HGVS:
  • NC_000005.10:g.13841058T>A
  • NG_013081.1:g.108423A>T
  • NG_013081.2:g.108423A>T
  • NM_001369.2:c.5557A>T
  • NP_001360.1:p.Lys1853Ter
  • NC_000005.9:g.13841167T>A
Protein change:
K1853*
Links:
dbSNP: rs748618094
NCBI 1000 Genomes Browser:
rs748618094
Molecular consequence:
  • NM_001369.2:c.5557A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001432678MAGI's Lab - Research,MAGI Groupno assertion criteria providedPathogenicgermlineprovider interpretation

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

Support Center