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NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 5, 2022
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:
RCV001811499.15

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_002180.3: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
  • NM_002180.2:c.393G>T
Protein change:
E131D
Links:
dbSNP: rs761440964
NCBI 1000 Genomes Browser:
rs761440964
Molecular consequence:
  • NM_002180.3:c.393G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001472371ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Uncertain significance
(Apr 5, 2022) 		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, SCV001472371.3

#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 in ClinVar (Variation ID: 653194). This variant is found in the non-Finnish European population with an allele frequency of 0.007% (9/129,158 alleles) in the Genome Aggregation Database. The glutamic acid at codon 131 is moderately conserved, but computational analyses predict that this variant is neutral (REVEL: 0.082). 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: Oct 26, 2024