NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 5, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000236000.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)]

NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)

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.1295C>T (p.Ala432Val)
HGVS:
  • NC_000011.10:g.68933358C>T
  • NG_007976.1:g.34508C>T
  • NM_002180.3:c.1295C>TMANE SELECT
  • NP_002171.2:p.Ala432Val
  • NP_002171.2:p.Ala432Val
  • LRG_250t1:c.1295C>T
  • LRG_250:g.34508C>T
  • LRG_250p1:p.Ala432Val
  • NC_000011.9:g.68700826C>T
  • NM_002180.2:c.1295C>T
Protein change:
A432V
Links:
dbSNP: rs370414354
NCBI 1000 Genomes Browser:
rs370414354
Molecular consequence:
  • NM_002180.3:c.1295C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000292996GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 5, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000292996.9

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

Description

The A432V variant in the IGHMBP2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A432V variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common variant in these populations. The A432V variant is a conservative amino acid substitution, which occurs at a position that is not conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret A432V as a variant of unknown significance.

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

Last Updated: Dec 4, 2021

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