NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 30, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000657850.3

Allele description [Variation Report for NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser)]

NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser)

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.6302A>G (p.Asn2101Ser)
HGVS:
  • NC_000007.14:g.21704462A>G
  • NG_012886.2:g.166248A>G
  • NM_001277115.2:c.6302A>GMANE SELECT
  • NP_001264044.1:p.Asn2101Ser
  • NC_000007.13:g.21744080A>G
  • NM_001277115.1:c.6302A>G
Protein change:
N2101S
Links:
dbSNP: rs201618995
NCBI 1000 Genomes Browser:
rs201618995
Molecular consequence:
  • NM_001277115.2:c.6302A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000779607GeneDxcriteria provided, single submitter
Uncertain significance
(May 30, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000779607.2

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

Description

The N2101S variant in the DNAH11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N2101S variant is observed in 143/276478 (0.05%) alleles in large population cohorts (Lek et al., 2016). The N2101S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret N2101S as a variant of uncertain significance.

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

Last Updated: Sep 29, 2021

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