NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu) AND not specified

Clinical significance:Benign (Last evaluated: Oct 28, 2013)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000079614.6

Allele description [Variation Report for NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu)]

NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu)

Gene:
DNAH11:dynein axonemal heavy chain 11 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
7p15.3
Genomic location:
Preferred name:
NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu)
HGVS:
  • NC_000007.14:g.21543345_21543346delinsTT
  • NG_012886.2:g.5131_5132delinsTT
  • NM_001277115.2:c.100_101delinsTTMANE SELECT
  • NP_001264044.1:p.Glu34Leu
  • NC_000007.13:g.21582963_21582964delGAinsTT
  • NC_000007.13:g.21582963_21582964delinsTT
  • NM_001277115.1:c.100_101delGAinsTT
  • NM_003777:c.100_101delinsTT
  • NP_001264044.1:p.E34L
  • NP_001264044.1:p.E34L
Protein change:
E34L
Links:
dbSNP: rs398123604
NCBI 1000 Genomes Browser:
rs398123604
Molecular consequence:
  • NM_001277115.2:c.100_101delinsTT - missense variant - [Sequence Ontology: SO:0001583]
Observations:
66

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000111497EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Oct 28, 2013)
germlineclinical testing

Citation Link,

SCV000205830Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Oct 11, 2013)
germlineclinical testing

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

SCV000307412PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided6866not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000111497.8

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

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000205830.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided68not providednot providedclinical testing PubMed (1)

Description

Glu34Leu (c.100_101delinsTT) in exon 1 of DNAH11: This variant is not expected t o have clinical significance because it has been identified in ~45% (3331/7390) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2285943 & dbSNP rs2285 944).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided68not provided66not provided

From PreventionGenetics,PreventionGenetics, SCV000307412.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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