NM_005732.4(RAD50):c.1948G>A (p.Glu650Lys) AND Nijmegen breakage syndrome-like disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 4, 2021
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:: RCV002257521.2

Allele description [Variation Report for NM_005732.4(RAD50):c.1948G>A (p.Glu650Lys)]

NM_005732.4(RAD50):c.1948G>A (p.Glu650Lys)

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.1948G>A (p.Glu650Lys)

HGVS:

NC_000005.10:g.132595023G>A
NG_021151.2:g.43047G>A
NM_005732.4:c.1948G>AMANE SELECT
NP_005723.2:p.Glu650Lys
LRG_312t1:c.1948G>A
LRG_312:g.43047G>A
LRG_312p1:p.Glu650Lys
NC_000005.9:g.131930715G>A
NG_021151.1:g.43100G>A
NM_005732.3:c.1948G>A

Protein change:

E650K

Links:

dbSNP: rs876658686

NCBI 1000 Genomes Browser:

rs876658686

Molecular consequence:

NM_005732.4:c.1948G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002538463	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Uncertain significance (Aug 4, 2021)	germline	curation	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

SCV002538463

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Uncertain significance
(Aug 4, 2021)

germline

curation

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	curation

Citations

PubMed

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Breast Cancer Association Consortium., Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.

N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

PubMed [citation]

PMID:: 33471991
PMCID:: PMC7611105

Details of each submission

From Sema4, Sema4, SCV002538463.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	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: Sep 29, 2024

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