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NM_001369.3(DNAH5):c.3650T>G (p.Ile1217Ser) AND Primary ciliary dyskinesia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 2023
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:
RCV004288290.1

Allele description [Variation Report for NM_001369.3(DNAH5):c.3650T>G (p.Ile1217Ser)]

NM_001369.3(DNAH5):c.3650T>G (p.Ile1217Ser)

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.3650T>G (p.Ile1217Ser)
HGVS:
  • NC_000005.10:g.13870951A>C
  • NG_013081.2:g.78530T>G
  • NM_001369.3:c.3650T>GMANE SELECT
  • NP_001360.1:p.Ile1217Ser
  • NC_000005.9:g.13871060A>C
  • NM_001369.2:c.3650T>G
Protein change:
I1217S
Molecular consequence:
  • NM_001369.3:c.3650T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary ciliary dyskinesia
Synonyms:
Ciliary dyskinesia
Identifiers:
MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003942675Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 7, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003942675.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.3650T>G (p.I1217S) alteration is located in exon 24 (coding exon 24) of the DNAH5 gene. This alteration results from a T to G substitution at nucleotide position 3650, causing the isoleucine (I) at amino acid position 1217 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024