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NM_203447.4(DOCK8):c.4024-4C>T AND not specified

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
May 19, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000601801.7

Allele description [Variation Report for NM_203447.4(DOCK8):c.4024-4C>T]

NM_203447.4(DOCK8):c.4024-4C>T

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.4024-4C>T
HGVS:
  • NC_000009.12:g.420945C>T
  • NG_017007.1:g.211081C>T
  • NM_001190458.2:c.3724-4C>T
  • NM_001193536.2:c.3820-4C>T
  • NM_203447.4:c.4024-4C>TMANE SELECT
  • LRG_196t1:c.4024-4C>T
  • LRG_196:g.211081C>T
  • NC_000009.11:g.420945C>T
  • NM_203447.3:c.4024-4C>T
Links:
dbSNP: rs111306749
NCBI 1000 Genomes Browser:
rs111306749
Molecular consequence:
  • NM_001190458.2:c.3724-4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193536.2:c.3820-4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_203447.4:c.4024-4C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV000711312Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Mar 6, 2017)
germlineclinical testing

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

SCV000731055GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Likely benign
(May 19, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000711312.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

c.4024-4C>T in intron 31 of DOCK8: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1.3% (88/6614) of European (Finnish) chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1113 06749).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

From GeneDx, SCV000731055.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Jun 29, 2024