NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 24, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000179404.3

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp)]

NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp)

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.832C>G (p.His278Asp)
HGVS:
  • NC_000011.10:g.68914943C>G
  • NG_007976.1:g.16093C>G
  • NM_002180.2:c.832C>G
  • NM_002180.3:c.832C>GMANE SELECT
  • NP_002171.2:p.His278Asp
  • NP_002171.2:p.His278Asp
  • LRG_250t1:c.832C>G
  • LRG_250:g.16093C>G
  • LRG_250p1:p.His278Asp
  • NC_000011.9:g.68682411C>G
Protein change:
H278D
Links:
dbSNP: rs144681826
NCBI 1000 Genomes Browser:
rs144681826
Molecular consequence:
  • NM_002180.2:c.832C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002180.3:c.832C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000231649EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Nov 26, 2014)
germlineclinical testing

Citation Link,

SCV001813638GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 24, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000231649.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001813638.1

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Nov 27, 2021

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