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NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys) AND Primary ciliary dyskinesia 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 2, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001587270.2

Allele description [Variation Report for NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys)]

NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys)

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.10731C>G (p.Asn3577Lys)
HGVS:
  • NC_000005.10:g.13753374G>C
  • NG_013081.2:g.196107C>G
  • NM_001369.3:c.10731C>GMANE SELECT
  • NP_001360.1:p.Asn3577Lys
  • NP_001360.1:p.Asn3577Lys
  • NC_000005.9:g.13753483G>C
  • NC_000005.9:g.13753483G>C
  • NM_001369.2:c.10731C>G
Protein change:
N3577K
Links:
dbSNP: rs376292253
NCBI 1000 Genomes Browser:
rs376292253
Molecular consequence:
  • NM_001369.3:c.10731C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary ciliary dyskinesia 3
Identifiers:
MONDO: MONDO:0012085; MedGen: C1837618; Orphanet: 244; OMIM: 608644

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001815748New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Oct 2, 2020) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001815748.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The inherited c.10731C>G(p.Asn3577Lys) missense variant in exon 63 of 79 of DNAH5 has not been reported in affected individuals in the available literature. This variant is present in gnomADv3 at a very low frequency (16/143270alleles, allele frequency = 0.0001117; no homozygoytes) indicating it is not a common benign variant in the populations represented in this database. In silico predictors suggest this variant is Damaging (Provean; score: -4.53) and Tolerated (SIFT; score: 0.054). Given the conflicting evidences regarding its pathogenicity, the c.10731C>G(p.Asn3577Lys) variant identified in the DNAH5 gene is reported as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024