NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) AND not specified

Clinical significance:Uncertain significance (Last evaluated: May 22, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000156495.2

Allele description [Variation Report for NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)]

NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)

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.7502G>C (p.Arg2501Pro)
HGVS:
  • NC_000005.10:g.13810166C>G
  • NG_013081.2:g.139315G>C
  • NM_001369.2:c.7502G>C
  • NM_001369.3:c.7502G>CMANE SELECT
  • NP_001360.1:p.Arg2501Pro
  • NP_001360.1:p.Arg2501Pro
  • NC_000005.9:g.13810275C>G
  • Q8TE73:p.Arg2501Pro
Protein change:
R2501P
Links:
UniProtKB: Q8TE73#VAR_030708; dbSNP: rs78853309
NCBI 1000 Genomes Browser:
rs78853309
Molecular consequence:
  • NM_001369.2:c.7502G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369.3:c.7502G>C - 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
SCV000206214Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(May 22, 2019)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not providednot providednot providedclinical testing

Citations

PubMed

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi MM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL.

J Med Genet. 2009 Apr;46(4):281-6. doi: 10.1136/jmg.2008.061176.

PubMed [citation]
PMID:
19357118

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H.

Am J Respir Crit Care Med. 2006 Jul 15;174(2):120-6. Epub 2006 Apr 20.

PubMed [citation]
PMID:
16627867
PMCID:
PMC2662904
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000206214.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

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

Last Updated: Oct 30, 2021

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