NM_005732.4(RAD50):c.3806_3807del (p.His1269fs) AND Nijmegen breakage syndrome-like disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 18, 2016
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:: RCV000490333.1

Allele description [Variation Report for NM_005732.4(RAD50):c.3806_3807del (p.His1269fs)]

NM_005732.4(RAD50):c.3806_3807del (p.His1269fs)

Genes:

RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]
TH2LCRR:T helper type 2 locus control region associated RNA [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q31.1

Genomic location:

Preferred name:

NM_005732.4(RAD50):c.3806_3807del (p.His1269fs)

HGVS:

NC_000005.10:g.132642231_132642232del
NG_021151.2:g.90255_90256del
NG_042308.1:g.13069_13070del
NM_005732.4:c.3806_3807delMANE SELECT
NP_005723.2:p.His1269fs
LRG_312t1:c.3806_3807del
LRG_312:g.90255_90256del
LRG_312p1:p.His1269fs
NC_000005.9:g.131977923_131977924del
NG_021151.1:g.90308_90309del
NM_005732.3:c.3806_3807del
NM_005732.3:c.3806_3807delAT
NR_132125.1:n.155_156del

Protein change:

H1269fs

Links:

dbSNP: rs1085307088

NCBI 1000 Genomes Browser:

rs1085307088

Molecular consequence:

NM_005732.4:c.3806_3807del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_132125.1:n.155_156del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Nijmegen breakage syndrome-like disorder (NBSLD)
Synonyms:: MICROCEPHALY AND SPONTANEOUS CHROMOSOME INSTABILITY WITHOUT IMMUNODEFICIENCY; NBS-LIKE DISORDER; RAD50 DEFICIENCY
Identifiers:: MONDO: MONDO:0013118; MedGen: C2751318; OMIM: 613078

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267470	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 18, 2016)	germline	reference population	PubMed (2) [See all records that cite these PMIDs] 19409520, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267470

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 18, 2016)

germline

reference population

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
East Asian	germline	unknown	1	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dörk T.

Am J Hum Genet. 2009 May;84(5):605-16. doi: 10.1016/j.ajhg.2009.04.010. Epub 2009 Apr 30.

PubMed [citation]

PMID:: 19409520
PMCID:: PMC2681000

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267470.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	1	not provided	not provided	reference population	PubMed (2)

#	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		1	not provided	not provided	not provided

Last Updated: Feb 25, 2025

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