NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001090413.3

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)]

NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)

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.1693G>A (p.Asp565Asn)
HGVS:
  • NC_000011.10:g.68935359G>A
  • NG_007976.1:g.36509G>A
  • NM_002180.3:c.1693G>AMANE SELECT
  • NP_002171.2:p.Asp565Asn
  • NP_002171.2:p.Asp565Asn
  • LRG_250t1:c.1693G>A
  • LRG_250:g.36509G>A
  • LRG_250p1:p.Asp565Asn
  • NC_000011.9:g.68702827G>A
  • NM_002180.2:c.1693G>A
Protein change:
D565N
Links:
dbSNP: rs770111639
NCBI 1000 Genomes Browser:
rs770111639
Molecular consequence:
  • NM_002180.3:c.1693G>A - 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
SCV001245955CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Oct 1, 2019)
germlineclinical testing

Citation Link,

SCV002023145PerkinElmer Genomicsno assertion criteria providedPathogenic
(Nov 8, 2021)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001245955.6

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

From PerkinElmer Genomics, SCV002023145.1

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

Last Updated: Dec 4, 2021

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