U.S. flag

An official website of the United States government

NM_001206927.2(DNAH8):c.10447A>T (p.Asn3483Tyr) AND Primary ciliary dyskinesia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 26, 2022
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:
RCV003071014.4

Allele description [Variation Report for NM_001206927.2(DNAH8):c.10447A>T (p.Asn3483Tyr)]

NM_001206927.2(DNAH8):c.10447A>T (p.Asn3483Tyr)

Genes:
DNAH8-AS1:DNAH8 antisense RNA 1 [Gene - HGNC]
DNAH8:dynein axonemal heavy chain 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.2
Genomic location:
Preferred name:
NM_001206927.2(DNAH8):c.10447A>T (p.Asn3483Tyr)
Other names:
p.Asn3483Tyr
HGVS:
  • NC_000006.12:g.38918063A>T
  • NG_041805.1:g.207723A>T
  • NM_001206927.2:c.10447A>TMANE SELECT
  • NM_001371.4:c.9796A>T
  • NP_001193856.1:p.Asn3483Tyr
  • NP_001362.2:p.Asn3266Tyr
  • NC_000006.11:g.38885839A>T
  • NM_001206927.1:c.10447A>T
Protein change:
N3266Y
Molecular consequence:
  • NM_001206927.2:c.10447A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371.4:c.9796A>T - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003450565Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(May 26, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003450565.2

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

Description

This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 3483 of the DNAH8 protein (p.Asn3483Tyr). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C65"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024