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NM_203447.4(DOCK8):c.3840+3A>G AND not specified

Germline classification:
Benign (1 submission)
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:
RCV000213640.6

Allele description [Variation Report for NM_203447.4(DOCK8):c.3840+3A>G]

NM_203447.4(DOCK8):c.3840+3A>G

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.3840+3A>G
HGVS:
  • NC_000009.12:g.418210A>G
  • NG_017007.1:g.208346A>G
  • NM_001190458.2:c.3540+3A>G
  • NM_001193536.2:c.3636+3A>G
  • NM_203447.4:c.3840+3A>GMANE SELECT
  • LRG_196t1:c.3840+3A>G
  • LRG_196:g.208346A>G
  • NC_000009.11:g.418210A>G
  • NM_203447.3:c.3840+3A>G
Links:
dbSNP: rs16938572
NCBI 1000 Genomes Browser:
rs16938572
Molecular consequence:
  • NM_001190458.2:c.3540+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193536.2:c.3636+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_203447.4:c.3840+3A>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
3

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
SCV000269032Laboratory 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]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not 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, SCV000269032.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

3840+3A>G in intron 30 of DOCK8: This variant is not expected to have clinical s ignificance because it has been identified in 2.7% (119/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs16938572).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

Last Updated: Jun 29, 2024