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NM_152564.5(VPS13B):c.9906G>A (p.Trp3302Ter) AND Microcephaly

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001252693.1

Allele description [Variation Report for NM_152564.5(VPS13B):c.9906G>A (p.Trp3302Ter)]

NM_152564.5(VPS13B):c.9906G>A (p.Trp3302Ter)

Gene:
VPS13B:vacuolar protein sorting 13 homolog B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.2
Genomic location:
Preferred name:
NM_152564.5(VPS13B):c.9906G>A (p.Trp3302Ter)
HGVS:
  • NC_000008.11:g.99835702G>A
  • NG_007098.2:g.827437G>A
  • NM_017890.5:c.9981G>A
  • NM_152564.5:c.9906G>AMANE SELECT
  • NP_060360.3:p.Trp3327Ter
  • NP_060360.3:p.Trp3327Ter
  • NP_689777.3:p.Trp3302Ter
  • LRG_351t1:c.9981G>A
  • LRG_351:g.827437G>A
  • LRG_351p1:p.Trp3327Ter
  • NC_000008.10:g.100847930G>A
  • NM_017890.4:c.9981G>A
Protein change:
W3302*
Links:
dbSNP: rs1815354949
NCBI 1000 Genomes Browser:
rs1815354949
Molecular consequence:
  • NM_017890.5:c.9981G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_152564.5:c.9906G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001163836Department of Pediatrics, Samsung Medical Center, Samsung Medical Center
no assertion criteria provided

(ACMG Guidelines, 2015)		Pathogenicmaternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Pediatrics, Samsung Medical Center, Samsung Medical Center, SCV001163836.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 17, 2022