NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) AND not provided

Clinical significance:Benign (Last evaluated: Sep 20, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000712264.4

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys)]

NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys)

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.2782G>A (p.Glu928Lys)
HGVS:
  • NC_000011.10:g.68938352G>A
  • NG_007976.1:g.39502G>A
  • NM_002180.2:c.2782G>A
  • NM_002180.3:c.2782G>AMANE SELECT
  • NP_002171.2:p.Glu928Lys
  • NP_002171.2:p.Glu928Lys
  • LRG_250t1:c.2782G>A
  • LRG_250:g.39502G>A
  • LRG_250p1:p.Glu928Lys
  • NC_000011.9:g.68705820G>A
  • P38935:p.Glu928Lys
Protein change:
E928K
Links:
UniProtKB: P38935#VAR_021900; dbSNP: rs2275996
NCBI 1000 Genomes Browser:
rs2275996
Molecular consequence:
  • NM_002180.2:c.2782G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002180.3:c.2782G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000842710Athena Diagnostics Inccriteria provided, single submitter
Benign
(Sep 20, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001797379Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001900861GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy.

Ohtsubo S, Iida A, Nitta K, Tanaka T, Yamada R, Ohnishi Y, Maeda S, Tsunoda T, Takei T, Obara W, Akiyama F, Ito K, Honda K, Uchida K, Tsuchiya K, Yumura W, Ujiie T, Nagane Y, Miyano S, Suzuki Y, Narita I, Gejyo F, et al.

J Hum Genet. 2005;50(1):30-35. doi: 10.1007/s10038-004-0214-8. Epub 2004 Dec 14.

PubMed [citation]
PMID:
15599641

Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.

Lou T, Zhang J, Gale DP, Rees AJ, Rhodes B, Feehally J, Li C, Li Y, Li R, Huang W, Hu B, Leung JC, Lam MF, Lai KN, Wang Y, Maxwell PH.

Nephrol Dial Transplant. 2010 May;25(5):1547-54. doi: 10.1093/ndt/gfp661. Epub 2009 Dec 22. Erratum in: Nephrol Dial Transplant. 2010 Jul;25(7):1.

PubMed [citation]
PMID:
20031928
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV000842710.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001797379.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001900861.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center