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NM_005732.4(RAD50):c.3779G>A (p.Arg1260His) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV003483501.1

Allele description [Variation Report for NM_005732.4(RAD50):c.3779G>A (p.Arg1260His)]

NM_005732.4(RAD50):c.3779G>A (p.Arg1260His)

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:
single nucleotide variant
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_005732.4(RAD50):c.3779G>A (p.Arg1260His)
HGVS:
  • NC_000005.10:g.132642204G>A
  • NG_021151.2:g.90228G>A
  • NG_042308.1:g.13042G>A
  • NM_005732.4:c.3779G>AMANE SELECT
  • NP_005723.2:p.Arg1260His
  • LRG_312t1:c.3779G>A
  • LRG_312:g.90228G>A
  • LRG_312p1:p.Arg1260His
  • NC_000005.9:g.131977896G>A
  • NG_021151.1:g.90281G>A
  • NM_005732.3:c.3779G>A
  • NR_132125.1:n.183C>T
  • p.R1260H
Protein change:
R1260H
Links:
dbSNP: rs367683141
NCBI 1000 Genomes Browser:
rs367683141
Molecular consequence:
  • NM_005732.4:c.3779G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_132125.1:n.183C>T - 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
Name:
Breast cancer, susceptibility to
Identifiers:
MedGen: C3469522

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228750GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228750.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 09-24-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024