NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jun 5, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000218415.2

Allele description [Variation Report for NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)]

NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)

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.7998G>T (p.Glu2666Asp)
HGVS:
  • NC_000005.10:g.13793948C>A
  • NG_013081.2:g.155533G>T
  • NM_001369.2:c.7998G>T
  • NM_001369.3:c.7998G>TMANE SELECT
  • NP_001360.1:p.Glu2666Asp
  • NP_001360.1:p.Glu2666Asp
  • NC_000005.9:g.13794057C>A
Protein change:
E2666D
Links:
dbSNP: rs148720124
NCBI 1000 Genomes Browser:
rs148720124
Molecular consequence:
  • NM_001369.2:c.7998G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369.3:c.7998G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000271691Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Jun 5, 2015)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.

Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta C.

Hum Reprod. 2008 Aug;23(8):1957-62. doi: 10.1093/humrep/den193. Epub 2008 May 20.

PubMed [citation]
PMID:
18492703

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000271691.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Glu2666Asp va riant in DNAH5 has been reported in 1 heterozygous Caucasian individual with iso lated asthenozoospermia (Zuccarello 2008). It has also been identified in 0.2% ( 115/66240) of European chromosomes by the Exome Aggregation Consortium (ExAC, ht tp://exac.broadinstitute.org; dbSNP rs148720124). Computational prediction tools and conservation analysis do not provide strong support for or against an impac t to the protein. In summary, while the clinical significance of the p.Glu2666As p variant is uncertain, its frequency suggests that it is more likely to be beni gn.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Oct 30, 2021

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