NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 30, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000236874.2

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln)]

NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln)

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.2554G>C (p.Glu852Gln)
HGVS:
  • NC_000011.10:g.68937034G>C
  • NG_007976.1:g.38184G>C
  • NM_002180.2:c.2554G>C
  • NM_002180.3:c.2554G>CMANE SELECT
  • NP_002171.2:p.Glu852Gln
  • NP_002171.2:p.Glu852Gln
  • LRG_250t1:c.2554G>C
  • LRG_250:g.38184G>C
  • LRG_250p1:p.Glu852Gln
  • NC_000011.9:g.68704502G>C
Protein change:
E852Q
Links:
dbSNP: rs202143060
NCBI 1000 Genomes Browser:
rs202143060
Molecular consequence:
  • NM_002180.2:c.2554G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002180.3:c.2554G>C - 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
SCV000293710GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 30, 2016)
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, SCV000293710.10

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

Description

The E852Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project and was not observed with any significant frequency the 1000 Genomes Project. The E852Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved, and Glutamine is observed at this position in other species. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Nov 27, 2021

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