NM_001369.2(DNAH5):c.11869G>A (p.Asp3957Asn) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jan 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000603454.1

Allele description [Variation Report for NM_001369.2(DNAH5):c.11869G>A (p.Asp3957Asn)]

NM_001369.2(DNAH5):c.11869G>A (p.Asp3957Asn)

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.11869G>A (p.Asp3957Asn)
HGVS:
  • NC_000005.10:g.13729453C>T
  • NG_013081.1:g.220028G>A
  • NG_013081.2:g.220028G>A
  • NM_001369.2:c.11869G>A
  • NP_001360.1:p.Asp3957Asn
  • NC_000005.9:g.13729562C>T
Protein change:
D3957N
Links:
dbSNP: rs749548708
NCBI 1000 Genomes Browser:
rs749548708
Molecular consequence:
  • NM_001369.2:c.11869G>A - 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
SCV000713846Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Jan 26, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

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, SCV000713846.1

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

Description

The p.Asp3957Asn variant in DNAH5 has not been previously reported in individual s with PCD, but has been identified in 2/246028 of chromosomes by the Genome Agg regation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs749548708). Computational prediction tools and conservation analysis suggest that the p.Asp 3957Asn variant may not impact the protein, though this information is not predi ctive enough to rule out pathogenicity. In summary, the clinical significance of the p.Asp3957Asn variant is uncertain. ACMG/AMP Criteria applied: PM2; BP4.

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

Last Updated: Jul 7, 2021

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