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NM_001277115.2(DNAH11):c.11912T>A (p.Val3971Glu) AND Primary ciliary dyskinesia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 2, 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:
RCV004368917.1

Allele description [Variation Report for NM_001277115.2(DNAH11):c.11912T>A (p.Val3971Glu)]

NM_001277115.2(DNAH11):c.11912T>A (p.Val3971Glu)

Gene:
DNAH11:dynein axonemal heavy chain 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p15.3
Genomic location:
Preferred name:
NM_001277115.2(DNAH11):c.11912T>A (p.Val3971Glu)
HGVS:
  • NC_000007.14:g.21868936T>A
  • NG_012886.2:g.330722T>A
  • NM_001277115.2:c.11912T>AMANE SELECT
  • NM_003777.3:c.11933T>A
  • NP_001264044.1:p.Val3971Glu
  • NP_003768.2:p.Val3978Glu
  • NC_000007.13:g.21908554T>A
  • NM_001277115.1:c.11912T>A
Protein change:
V3971E
Molecular consequence:
  • NM_001277115.2:c.11912T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003777.3:c.11933T>A - 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
SCV004858260Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 2, 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, SCV004858260.1

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

Description

The c.11912T>A (p.V3971E) alteration is located in exon 73 (coding exon 73) of the DNAH11 gene. This alteration results from a T to A substitution at nucleotide position 11912, causing the valine (V) at amino acid position 3971 to be replaced by a glutamic acid (E). 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: Sep 16, 2024