NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Oct 17, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000726312.2

Allele description [Variation Report for NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)]

NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)

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.6727C>T (p.Arg2243Ter)
HGVS:
  • NC_000007.14:g.21710596C>T
  • NG_012886.2:g.172382C>T
  • NM_001277115.2:c.6727C>TMANE SELECT
  • NP_001264044.1:p.Arg2243Ter
  • NC_000007.13:g.21750214C>T
  • NM_001277115.1:c.6727C>T
  • p.R2243X
Protein change:
R2243*
Links:
dbSNP: rs201943194
NCBI 1000 Genomes Browser:
rs201943194
Molecular consequence:
  • NM_001277115.2:c.6727C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000343671EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Jul 12, 2016)
germlineclinical testing

Citation Link,

SCV000890648GeneDxcriteria provided, single submitter
Likely pathogenic
(Oct 17, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000343671.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000890648.1

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

Description

The R2243X variant in the DNAH11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R2243X variant is observed in 24/276,124 (0.0087%) global alleles in large population cohorts (Lek et al., 2016). We interpret R2243X as a likely pathogenic variant.

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

Last Updated: Sep 29, 2021

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