NM_005732.4(RAD50):c.885+11G>A AND Nijmegen breakage syndrome-like disorder

Germline classification:: Benign (1 submission)
Last evaluated:: May 25, 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:: RCV000411955.3

Allele description [Variation Report for NM_005732.4(RAD50):c.885+11G>A]

NM_005732.4(RAD50):c.885+11G>A

Gene:

RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

Preferred name:

NM_005732.4(RAD50):c.885+11G>A

HGVS:

NC_000005.10:g.132587701G>A
NG_021151.2:g.35725G>A
NM_005732.4:c.885+11G>AMANE SELECT
LRG_312t1:c.885+11G>A
LRG_312:g.35725G>A
NC_000005.9:g.131923393G>A
NG_021151.1:g.35778G>A
NM_005732.3:c.885+11G>A

Links:

dbSNP: rs117081789

NCBI 1000 Genomes Browser:

rs117081789

Molecular consequence:

NM_005732.4:c.885+11G>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000488655	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Benign (May 25, 2016)	unknown	clinical testing	Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000488655

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Benign
(May 25, 2016)

unknown

clinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000488655.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Feb 28, 2024

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