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NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met) AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 10, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001718585.2

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)]

NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)

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.344C>T (p.Thr115Met)
HGVS:
  • NC_000011.10:g.68908232C>T
  • NG_007976.1:g.9382C>T
  • NM_002180.3:c.344C>TMANE SELECT
  • NP_002171.2:p.Thr115Met
  • NP_002171.2:p.Thr115Met
  • LRG_250t1:c.344C>T
  • LRG_250:g.9382C>T
  • LRG_250p1:p.Thr115Met
  • NC_000011.9:g.68675700C>T
  • NM_002180.2:c.344C>T
Protein change:
T115M
Links:
dbSNP: rs181657861
NCBI 1000 Genomes Browser:
rs181657861
Molecular consequence:
  • NM_002180.3:c.344C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000513267GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Jun 10, 2021)
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, SCV000513267.6

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

Description

This variant is associated with the following publications: (PMID: 31372974, 29653221, 20031928, 26922252, 26136520, 28202949, 31180159, 30076350)

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

Last Updated: Jul 7, 2024