NM_002485.5(NBN):c.1125G>A (p.Trp375Ter) AND Microcephaly, normal intelligence and immunodeficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 2, 2017
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:: RCV000417077.1

Allele description

NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)

HGVS:

NC_000008.11:g.89955555C>T
NG_008860.1:g.34117G>A
NM_001024688.3:c.879G>A
NM_002485.5:c.1125G>AMANE SELECT
NP_001019859.1:p.Trp293Ter
NP_002476.2:p.Trp375Ter
LRG_158t1:c.1125G>A
LRG_158:g.34117G>A
LRG_158p1:p.Trp375Ter
NC_000008.10:g.90967783C>T
NM_002485.4:c.1125G>A

Protein change:

W293*

Links:

dbSNP: rs1057519588

NCBI 1000 Genomes Browser:

rs1057519588

Molecular consequence:

NM_001024688.3:c.879G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_002485.5:c.1125G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Microcephaly, normal intelligence and immunodeficiency (NBS)
Synonyms:: IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY; SEEMANOVA SYNDROME II; Nijmegen breakage syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009623; MedGen: C0398791; Orphanet: 647; OMIM: 251260

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494636	GeneReviews	no assertion criteria provided	Pathogenic (Feb 2, 2017)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494636

GeneReviews

no assertion criteria provided

Pathogenic
(Feb 2, 2017)

germline

literature only

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Fertility defects revealing germline biallelic nonsense NBN mutations.

Warcoin M, Lespinasse J, Despouy G, Dubois d'Enghien C, Laugé A, Portnoï MF, Christin-Maitre S, Stoppa-Lyonnet D, Stern MH.

Hum Mutat. 2009 Mar;30(3):424-30. doi: 10.1002/humu.20904.

PubMed [citation]

PMID:: 19105185

Details of each submission

From GeneReviews, SCV000494636.1

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

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

Last Updated: Jun 18, 2022

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