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NM_138959.3(VANGL1):c.983T>C (p.Met328Thr) AND Neural tube defects, susceptibility to

Germline classification:
risk factor (1 submission)
Last evaluated:
Apr 5, 2007
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:
RCV000001413.5

Allele description [Variation Report for NM_138959.3(VANGL1):c.983T>C (p.Met328Thr)]

NM_138959.3(VANGL1):c.983T>C (p.Met328Thr)

Gene:
VANGL1:VANGL planar cell polarity protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.1
Genomic location:
Preferred name:
NM_138959.3(VANGL1):c.983T>C (p.Met328Thr)
HGVS:
  • NC_000001.11:g.115683980T>C
  • NG_016548.1:g.47028T>C
  • NM_001172411.2:c.977T>C
  • NM_001172412.2:c.983T>C
  • NM_138959.3:c.983T>CMANE SELECT
  • NP_001165882.1:p.Met326Thr
  • NP_001165883.1:p.Met328Thr
  • NP_620409.1:p.Met328Thr
  • NC_000001.10:g.116226601T>C
  • Q8TAA9:p.Met328Thr
Protein change:
M326T; MET328THR
Links:
UniProtKB: Q8TAA9#VAR_035211; OMIM: 610132.0003; dbSNP: rs121918220
NCBI 1000 Genomes Browser:
rs121918220
Molecular consequence:
  • NM_001172411.2:c.977T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172412.2:c.983T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138959.3:c.983T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neural tube defects, susceptibility to
Identifiers:
MONDO: MONDO:0020705; MedGen: C3891448; OMIM: 182940

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021563OMIM
no assertion criteria provided
risk factor
(Apr 5, 2007) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in VANGL1 associated with neural-tube defects.

Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J, Mathieu M, Kirillova I, De Marco P, Merello E, Hayes JM, Wallingford JB, Drapeau P, Capra V, Gros P.

N Engl J Med. 2007 Apr 5;356(14):1432-7.

PubMed [citation]
PMID:
17409324

Details of each submission

From OMIM, SCV000021563.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 21-year-old woman with sporadic neural tube defects (182940), Kibar et al. (2007) detected a heterozygous met328-to-thr (M328T) mutation in the VANGL1 gene. She had myelomeningocele (level L3-S1), hydrocephalus, Chiari II malformation, tethered spinal cord, clubfeet, lumbosacral scoliosis, and sacrococcygeal kyphosis. The M328T mutation occurs in the predicted cytoplasmic domain of VANGL1.

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

Last Updated: Jun 17, 2024