NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 30, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000222500.2

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln)]

NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln)

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.857G>A (p.Arg286Gln)
HGVS:
  • NC_000011.10:g.68914968G>A
  • NG_007976.1:g.16118G>A
  • NM_002180.2:c.857G>A
  • NM_002180.3:c.857G>AMANE SELECT
  • NP_002171.2:p.Arg286Gln
  • NP_002171.2:p.Arg286Gln
  • LRG_250t1:c.857G>A
  • LRG_250:g.16118G>A
  • LRG_250p1:p.Arg286Gln
  • NC_000011.9:g.68682436G>A
Protein change:
R286Q
Links:
dbSNP: rs200566598
NCBI 1000 Genomes Browser:
rs200566598
Molecular consequence:
  • NM_002180.2:c.857G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002180.3:c.857G>A - 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
SCV000279723GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 30, 2018)
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, SCV000279723.6

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

Description

The R286Q 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 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations but the 1000 Genomes Project reports R286Q was observed in 1/186 (0.5%) alleles from individuals of Chinese background. The R286Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to 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: Oct 30, 2021

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