NM_001206927.2(DNAH8):c.11468C>T (p.Ala3823Val) AND Spermatogenic failure 46

Clinical significance:Uncertain significance (Last evaluated: Jan 19, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001290377.1

Allele description [Variation Report for NM_001206927.2(DNAH8):c.11468C>T (p.Ala3823Val)]

NM_001206927.2(DNAH8):c.11468C>T (p.Ala3823Val)

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.11468C>T (p.Ala3823Val)
HGVS:
  • NC_000006.12:g.38935602C>T
  • NG_041805.1:g.225262C>T
  • NM_001206927.2:c.11468C>TMANE SELECT
  • NM_001371.4:c.10817C>T
  • NP_001193856.1:p.Ala3823Val
  • NP_001362.2:p.Ala3606Val
  • NC_000006.11:g.38903378C>T
  • NM_001206927.1:c.11468C>T
Protein change:
A3606V
Links:
dbSNP: rs185283741
NCBI 1000 Genomes Browser:
rs185283741
Molecular consequence:
  • NM_001206927.2:c.11468C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371.4:c.10817C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spermatogenic failure 46
Identifiers:
MONDO: MONDO:0033673; MedGen: C5436799; OMIM: 619095

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001478431Johns Hopkins Genomics, Johns Hopkins Universitycriteria provided, single submitter
Uncertain significance
(Jan 19, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Johns Hopkins Genomics, Johns Hopkins University, SCV001478431.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This DNAH8 variant (rs185283741) is present in a large population dataset (gnomAD: 102/280708 total alleles; 0.036%; no homozygotes) and has been reported in ClinVar. It has not been reported in the literature, to our knowledge. One bioinformatic tool queried predicts that this substitution would be tolerated, and the alanine residue at this position is poorly evolutionarily conserved across the species assessed. We consider the clinical significance of c.11432C>T to be uncertain at this time.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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