U.S. flag

An official website of the United States government

NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2017
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:
RCV000439452.6

Allele description [Variation Report for NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val)]

NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val)

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.3988C>G (p.Leu1330Val)
HGVS:
  • NC_000009.12:g.420548C>G
  • NG_017007.1:g.210684C>G
  • NM_001190458.2:c.3688C>G
  • NM_001193536.2:c.3784C>G
  • NM_203447.4:c.3988C>GMANE SELECT
  • NP_001177387.1:p.Leu1230Val
  • NP_001180465.1:p.Leu1262Val
  • NP_982272.2:p.Leu1330Val
  • NP_982272.2:p.Leu1330Val
  • LRG_196t1:c.3988C>G
  • LRG_196:g.210684C>G
  • LRG_196p1:p.Leu1330Val
  • NC_000009.11:g.420548C>G
  • NM_203447.3:c.3988C>G
Protein change:
L1230V
Links:
dbSNP: rs148081681
NCBI 1000 Genomes Browser:
rs148081681
Molecular consequence:
  • NM_001190458.2:c.3688C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193536.2:c.3784C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203447.4:c.3988C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000512850GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(Jan 6, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000512850.4

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

Description

The L1330V variant in the DOCK8 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. However, the variant has been observed in the homozygous state in one unaffected individual at GeneDx. The NHLBI Exome Sequencing Project reports L1330V was observed in 10/4406 (0.23%) alleles from individuals of African-American background, and the 1000 Genomes Project Consortium reports it was observed in 2/1322 (0.15%) alleles from individuals of African background, indicating it may be a rare variant in these populations. The L1330V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Jun 29, 2024