NM_005732.4(RAD50):c.1722dup (p.Gln575fs) AND Nijmegen breakage syndrome-like disorder

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Oct 25, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001781475.5

Allele description [Variation Report for NM_005732.4(RAD50):c.1722dup (p.Gln575fs)]

NM_005732.4(RAD50):c.1722dup (p.Gln575fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

5q31.1

Genomic location:

Preferred name:

NM_005732.4(RAD50):c.1722dup (p.Gln575fs)

HGVS:

NC_000005.10:g.132591963dup
NG_021151.2:g.39987dup
NM_005732.4:c.1722dupMANE SELECT
NP_005723.2:p.Gln575fs
LRG_312t1:c.1722dup
LRG_312:g.39987dup
LRG_312p1:p.Gln575fs
NC_000005.9:g.131927649_131927650insA
NC_000005.9:g.131927655dup
NG_021151.1:g.40040dup
NM_005732.3:c.1722dup
NM_005732.3:c.1722dupA
NM_005732.4:c.1722dupAMANE SELECT

Protein change:

Q575fs

Links:

dbSNP: rs587782543

NCBI 1000 Genomes Browser:

rs587782543

Molecular consequence:

NM_005732.4:c.1722dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

carboxyl-terminal protease [Flagellimonas oceani]
carboxyl-terminal protease [Flagellimonas oceani]
gi|1819722300|gnl|PRJNA601280|GVT53 5|gb|QII44838.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002019010	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 25, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002811250	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 25, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002019010

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 25, 2021)

germline

clinical testing

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

SCV002811250

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 25, 2021)

unknown

clinical testing

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

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	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Revvity Omics, Revvity, SCV002019010.3

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

From Fulgent Genetics, Fulgent Genetics, SCV002811250.1

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

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine