NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=) AND not specified

Clinical significance:Benign (Last evaluated: Apr 5, 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:
RCV000079623.6

Allele description [Variation Report for NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=)]

NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=)

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.5490G>A (p.Leu1830=)
HGVS:
  • NC_000007.14:g.21683813G>A
  • NG_012886.2:g.145599G>A
  • NM_001277115.2:c.5490G>AMANE SELECT
  • NP_001264044.1:p.Leu1830=
  • NC_000007.13:g.21723431G>A
  • NM_001277115.1:c.5490G>A
  • NM_003777:c.5490G>A
  • NP_001264044.1:p.(=)
  • NP_001264044.1:p.(=)
  • p.Leu1830Leu
Links:
dbSNP: rs55666134
NCBI 1000 Genomes Browser:
rs55666134
Molecular consequence:
  • NM_001277115.2:c.5490G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
22

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
SCV000111506EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Apr 5, 2013)
germlineclinical testing

Citation Link,

SCV000197621Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Feb 21, 2013)
germlineclinical testing

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

SCV000307535PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing
not providedgermlinenot provided2222not 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, SCV000111506.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000197621.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided22not providednot providedclinical testing PubMed (1)

Description

Leu1830Leu in exon 32 of DNAH11: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 15.0% (1240/8258) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs55666134).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided22not provided22not provided

From PreventionGenetics,PreventionGenetics, SCV000307535.1

#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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