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NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) AND not specified

Germline classification:
Benign (3 submissions)
Last evaluated:
Feb 21, 2013
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:
RCV000150507.8

Allele description [Variation Report for NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys)]

NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys)

Gene:
DOCK8:dedicator of cytokinesis 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.3
Genomic location:
Preferred name:
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys)
HGVS:
  • NC_000009.12:g.312134G>A
  • NG_017007.1:g.102270G>A
  • NM_001190458.2:c.505G>A
  • NM_001193536.2:c.505G>A
  • NM_203447.4:c.709G>AMANE SELECT
  • NP_001177387.1:p.Glu169Lys
  • NP_001180465.1:p.Glu169Lys
  • NP_982272.2:p.Glu237Lys
  • NP_982272.2:p.Glu237Lys
  • LRG_196t1:c.709G>A
  • LRG_196:g.102270G>A
  • LRG_196p1:p.Glu237Lys
  • NC_000009.11:g.312134G>A
  • NM_203447.3:c.709G>A
  • Q8NF50:p.Glu237Lys
Protein change:
E169K
Links:
UniProtKB: Q8NF50#VAR_033889; dbSNP: rs11789099
NCBI 1000 Genomes Browser:
rs11789099
Molecular consequence:
  • NM_001190458.2:c.505G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193536.2:c.505G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203447.4:c.709G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
6

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
SCV000197693Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Feb 21, 2013)
germlineclinical testing

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

SCV001809250Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus
no assertion criteria provided
Benigngermlineclinical testing

SCV001931819Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided66not providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot 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

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000197693.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testing PubMed (1)

Description

Glu237Lys in exon 6 of DOCK8: This variant is not expected to have clinical sign ificance because it has been identified in 3.3% (283/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs11789099).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided6not provided6not provided

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001809250.1

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001931819.1

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

Last Updated: Jun 29, 2024