NM_080911.3(UNG):c.752T>C (p.Phe251Ser) AND Hyper-IgM syndrome type 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 20, 2005
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:: RCV000013086.26

Allele description [Variation Report for NM_080911.3(UNG):c.752T>C (p.Phe251Ser)]

NM_080911.3(UNG):c.752T>C (p.Phe251Ser)

Gene:

UNG:uracil DNA glycosylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

Preferred name:

NM_080911.3(UNG):c.752T>C (p.Phe251Ser)

HGVS:

NC_000012.12:g.109103562T>C
NG_007284.1:g.10953T>C
NM_003362.4:c.725T>C
NM_080911.3:c.752T>CMANE SELECT
NP_003353.1:p.Phe242Ser
NP_550433.1:p.Phe251Ser
LRG_124:g.10953T>C
NC_000012.11:g.109541367T>C
P13051:p.Phe251Ser

Protein change:

F242S; PHE251SER

Links:

UniProtKB: P13051#VAR_017094; OMIM: 191525.0003; dbSNP: rs104894380

NCBI 1000 Genomes Browser:

rs104894380

Molecular consequence:

NM_003362.4:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_080911.3:c.752T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hyper-IgM syndrome type 5 (HIGM5)
Synonyms:: Immunodeficiency with hyper IgM type 5; Hyper-IgM Immunodeficiency Syndrome, Type 5
Identifiers:: MONDO: MONDO:0011971; MedGen: C1720958; OMIM: 608106

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033332	OMIM	no assertion criteria provided	Pathogenic (Jun 20, 2005)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 12958596, 15967827

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033332

OMIM

no assertion criteria provided

Pathogenic
(Jun 20, 2005)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.

Imai K, Slupphaug G, Lee WI, Revy P, Nonoyama S, Catalan N, Yel L, Forveille M, Kavli B, Krokan HE, Ochs HD, Fischer A, Durandy A.

Nat Immunol. 2003 Oct;4(10):1023-8. Epub 2003 Sep 7.

PubMed [citation]

PMID:: 12958596

B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil.

Kavli B, Andersen S, Otterlei M, Liabakk NB, Imai K, Fischer A, Durandy A, Krokan HE, Slupphaug G.

J Exp Med. 2005 Jun 20;201(12):2011-21.

PubMed [citation]

PMID:: 15967827
PMCID:: PMC2212036

Details of each submission

From OMIM, SCV000033332.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a patient with immunodeficiency with hyper-IgM (HIGM5; 608106), Imai et al. (2003) identified a homozygous 822T-C transition in exon 5 of the UNG gene, resulting in a phe251-to-ser (F251S) substitution in nuclear UNG. The parents of the patient were nonconsanguineous.

Using immunoblot and confocal microscopy analyses, Kavli et al. (2005) showed that UNG2 with the F251S substitution in its catalytic domain was fully active and stable when expressed in E. coli, but it was mistargeted to mitochondria rather than the nucleus, likely due to interaction with UNG1, and was degraded in mammalian cells.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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