NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys) AND Infertility

Clinical significance:Uncertain significance

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:
RCV001327951.1

Allele description [Variation Report for NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)]

NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)

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.5413C>T (p.Arg1805Cys)
HGVS:
  • NC_000005.10:g.13841763G>A
  • NG_013081.2:g.107718C>T
  • NM_001369.3:c.5413C>TMANE SELECT
  • NP_001360.1:p.Arg1805Cys
  • NP_001360.1:p.Arg1805Cys
  • NC_000005.9:g.13841872G>A
  • NM_001369.2:c.5413C>T
Protein change:
R1805C
Links:
dbSNP: rs142155986
NCBI 1000 Genomes Browser:
rs142155986
Molecular consequence:
  • NM_001369.3:c.5413C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Infertility
Identifiers:
MedGen: C0021359; Human Phenotype Ontology: HP:0000789

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001432729MAGI's Lab - Research,MAGI Groupno assertion criteria providedUncertain significancegermlineprovider 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, SCV001432729.1

#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: Dec 4, 2021

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