NM_018052.5(VAC14):c.2005G>T (p.Val669Leu) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 23, 2018
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:
RCV001267003.2

Allele description [Variation Report for NM_018052.5(VAC14):c.2005G>T (p.Val669Leu)]

NM_018052.5(VAC14):c.2005G>T (p.Val669Leu)

Gene:
VAC14:VAC14 component of PIKFYVE complex [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_018052.5(VAC14):c.2005G>T (p.Val669Leu)
HGVS:
  • NC_000016.10:g.70695574C>A
  • NG_054902.1:g.110596G>T
  • NM_001351157.2:c.1303G>T
  • NM_018052.5:c.2005G>TMANE SELECT
  • NP_001338086.1:p.Val435Leu
  • NP_060522.3:p.Val669Leu
  • NC_000016.9:g.70729477C>A
  • NM_018052.3:c.2005G>T
Protein change:
V435L
Links:
dbSNP: rs1363536856
NCBI 1000 Genomes Browser:
rs1363536856
Molecular consequence:
  • NM_001351157.2:c.1303G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018052.5:c.2005G>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
variation affecting protein [Variation Ontology: 0002]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001445184Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Likely pathogenic
(Mar 23, 2018) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.

Lenk GM, Szymanska K, Debska-Vielhaber G, Rydzanicz M, Walczak A, Bekiesinska-Figatowska M, Vielhaber S, Hallmann K, Stawinski P, Buehring S, Hsu DA, Kunz WS, Meisler MH, Ploski R.

Am J Hum Genet. 2016 Jul 7;99(1):188-94. doi: 10.1016/j.ajhg.2016.05.008. Epub 2016 Jun 9.

PubMed [citation]
PMID:
27292112
PMCID:
PMC5005439

Details of each submission

From Ambry Genetics, SCV001445184.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 18, 2024