U.S. flag

An official website of the United States government

NM_004048.4(B2M):c.67+1G>T AND Hypoproteinemia, hypercatabolic

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000201934.2

Allele description [Variation Report for NM_004048.4(B2M):c.67+1G>T]

NM_004048.4(B2M):c.67+1G>T

Gene:
B2M:beta-2-microglobulin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_004048.4(B2M):c.67+1G>T
Other names:
B2M, IVS1DS, G-T, +1
HGVS:
  • NC_000015.10:g.44711614G>T
  • NG_012920.2:g.5138G>T
  • NG_130931.1:g.377G>T
  • NM_004048.4:c.67+1G>TMANE SELECT
  • LRG_1215:g.5138G>T
  • NC_000015.9:g.45003812G>T
  • NM_004048.2:c.67+1G>T
Nucleotide change:
IVS1DS, G-T, +1
Links:
OMIM: 109700.0003; dbSNP: rs863225287
NCBI 1000 Genomes Browser:
rs863225287
Molecular consequence:
  • NM_004048.4:c.67+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Hypoproteinemia, hypercatabolic (IMD43)
Synonyms:
IMMUNODEFICIENCY 43; BETA-2-MICROGLOBULIN DEFICIENCY; B2M DEFICIENCY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009434; MedGen: C1855796; OMIM: 241600

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000256861OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2015) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.

Ardeniz Ö, Unger S, Onay H, Ammann S, Keck C, Cianga C, Gerçeker B, Martin B, Fuchs I, Salzer U, İkincioğulları A, Güloğlu D, Dereli T, Thimme R, Ehl S, Schwarz K, Schmitt-Graeff A, Cianga P, Fisch P, Warnatz K.

J Allergy Clin Immunol. 2015 Aug;136(2):392-401. doi: 10.1016/j.jaci.2014.12.1937. Epub 2015 Feb 19.

PubMed [citation]
PMID:
25702838

Details of each submission

From OMIM, SCV000256861.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 Turkish sibs, born of consanguineous parents, with immunodeficiency-43 (IMD43; 241600), Ardeniz et al. (2015) identified a homozygous G-to-T transversion in intron 1 of the B2M gene (c.67+1G-T), predicted to result in a frameshift and premature termination in exon 2. Each unaffected parent was heterozygous for the mutation, which was not found in 200 control chromosomes. Patient cells showed absence of the mutant transcript, consistent with nonsense-mediated mRNA decay. Patient lymphocytes showed no detectable B2M surface protein expression, and undetectable serum levels of B2M.

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

Last Updated: May 26, 2024