NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Jun 2, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000624850.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)]

NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)

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.2T>C (p.Met1Thr)
HGVS:
  • NC_000011.10:g.68903954T>C
  • NG_007976.1:g.5104T>C
  • NM_002180.2:c.2T>C
  • NM_002180.3:c.2T>CMANE SELECT
  • NP_002171.2:p.Met1Thr
  • NP_002171.2:p.Met1Thr
  • LRG_250t1:c.2T>C
  • LRG_250:g.5104T>C
  • LRG_250p1:p.Met1Thr
  • NC_000011.9:g.68671422T>C
Protein change:
M1T
Links:
dbSNP: rs886037759
NCBI 1000 Genomes Browser:
rs886037759
Molecular consequence:
  • NM_002180.3:c.2T>C - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_002180.2:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002180.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
initiation codon change [Variation Ontology: 0317] - Comment(s)
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000740939Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jun 2, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Uknowngermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000740939.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Uknown1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 25, 2021

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