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NM_001277115.2(DNAH11):c.6518T>C (p.Val2173Ala) AND Primary ciliary dyskinesia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 2024
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:
RCV004368933.1

Allele description [Variation Report for NM_001277115.2(DNAH11):c.6518T>C (p.Val2173Ala)]

NM_001277115.2(DNAH11):c.6518T>C (p.Val2173Ala)

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.6518T>C (p.Val2173Ala)
HGVS:
  • NC_000007.14:g.21705509T>C
  • NG_012886.2:g.167295T>C
  • NM_001277115.2:c.6518T>CMANE SELECT
  • NM_003777.3:c.6539T>C
  • NP_001264044.1:p.Val2173Ala
  • NP_003768.2:p.Val2180Ala
  • NC_000007.13:g.21745127T>C
  • NM_001277115.1:c.6518T>C
Protein change:
V2173A
Molecular consequence:
  • NM_001277115.2:c.6518T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003777.3:c.6539T>C - 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
SCV004857344Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 23, 2024) 		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, SCV004857344.1

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

Description

The c.6518T>C (p.V2173A) alteration is located in exon 39 (coding exon 39) of the DNAH11 gene. This alteration results from a T to C substitution at nucleotide position 6518, causing the valine (V) at amino acid position 2173 to be replaced by an alanine (A). 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