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NM_001079539.2(XBP1):c.573+1G>T AND Major affective disorder 7

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 12, 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:
RCV001001988.8

Allele description [Variation Report for NM_001079539.2(XBP1):c.573+1G>T]

NM_001079539.2(XBP1):c.573+1G>T

Gene:
XBP1:X-box binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_001079539.2(XBP1):c.573+1G>T
HGVS:
  • NC_000022.11:g.28796046C>A
  • NG_012266.1:g.9527G>T
  • NM_001079539.2:c.573+1G>TMANE SELECT
  • NM_001393999.1:c.423+1G>T
  • NM_001394000.1:c.449+1G>T
  • NM_005080.4:c.599+1G>T
  • NC_000022.10:g.29192034C>A
Links:
dbSNP: rs1601436804
NCBI 1000 Genomes Browser:
rs1601436804
Molecular consequence:
  • NM_001079539.2:c.573+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001393999.1:c.423+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001394000.1:c.449+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_005080.4:c.599+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Major affective disorder 7 (MAFD7)
Identifiers:
MONDO: MONDO:0012881; MedGen: C2700438; OMIM: 612371

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001159801ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Jul 12, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001159801.1

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

Description

The c.573+1G>T variant has not been reported in the scientific literature, gene specific variant databases including ClinVar or previously identified in our laboratory. Kakiuchi et al. (2003) reported an association between a polymorphism in the promoter region of the XBP1 gene and a susceptibility to bipolar disorder (BD) in 197 unrelated Japanese patients but Hou et al. (2004) did not find a significant association between the promoter polymorphism and BD in a Chinese cohort. Cheng et al. (2014) reported in a large meta-analysis a significant association between the XBP1 and BD among Asians, but not among BD in Caucasians. Thus, the association between the XBP1 gene and a susceptibility to major affective disorder is uncertain at this time, as is the clinical significance of the c.573+1G>T variant.

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

Last Updated: Jun 10, 2023