NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp) AND none provided

Clinical significance:Uncertain significance (Last evaluated: Nov 11, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001285869.2

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp)]

NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp)

Gene:
IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp)
HGVS:
  • NC_000011.10:g.68908281G>T
  • NG_007976.1:g.9431G>T
  • NM_002180.2:c.393G>T
  • NM_002180.3:c.393G>TMANE SELECT
  • NP_002171.2:p.Glu131Asp
  • NP_002171.2:p.Glu131Asp
  • LRG_250t1:c.393G>T
  • LRG_250:g.9431G>T
  • LRG_250p1:p.Glu131Asp
  • NC_000011.9:g.68675749G>T
Protein change:
E131D
Links:
dbSNP: rs761440964
NCBI 1000 Genomes Browser:
rs761440964
Molecular consequence:
  • NM_002180.2:c.393G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002180.3:c.393G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001472371ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Nov 11, 2019)
germlineclinical testing

Citation Link

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, SCV001472371.1

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

Description

The IGHMBP2 c.393G>T; p.Glu131Asp variant (rs761440964), to our knowledge, is not reported in the medical literature but is reported as a variant of uncertain significance by one laboratory in ClinVar (Variation ID: 653194). This variant is found in the non-Finnish European population with an allele frequency of 0.003182% (9/282,824 alleles,) in the Genome Aggregation Database. The glutamic acid at codon 131 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Glu131Asp variant is uncertain at this time.

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

Last Updated: Nov 11, 2021

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