U.S. flag

An official website of the United States government

NM_005732.4(RAD50):c.1911T>A (p.Asp637Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 13, 2014
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:
RCV000212911.1

Allele description [Variation Report for NM_005732.4(RAD50):c.1911T>A (p.Asp637Glu)]

NM_005732.4(RAD50):c.1911T>A (p.Asp637Glu)

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.1911T>A (p.Asp637Glu)
Other names:
p.D637E:GAT>GAA
HGVS:
  • NC_000005.10:g.132594986T>A
  • NG_021151.2:g.43010T>A
  • NM_005732.4:c.1911T>AMANE SELECT
  • NP_005723.2:p.Asp637Glu
  • LRG_312t1:c.1911T>A
  • LRG_312:g.43010T>A
  • LRG_312p1:p.Asp637Glu
  • NC_000005.9:g.131930678T>A
  • NG_021151.1:g.43063T>A
  • NM_005732.3:c.1911T>A
  • p.D637E
Protein change:
D637E
Links:
dbSNP: rs144749616
NCBI 1000 Genomes Browser:
rs144749616
Molecular consequence:
  • NM_005732.4:c.1911T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000149845GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Feb 13, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000149845.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

RAD50 has been only recently described in association with cancer predisposition and the risks are not well understood. This variant is denoted RAD50 c.1911T>A at the cDNA level, p.Asp637Glu (D637E) at the protein level, and results in the change of an Aspartic Acid to a Glutamic Acid (GAT>GAA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD50 Asp637Glu was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project or 1000 Genomes. This variant is a conservative substitution of one negative polar amino acid for another, altering a position that is well conserved throughout evolution and is located in a potential coiled coil region in the Zinc-hook domain (UniProt). In silico analyses are inconsistent with regard to the effect this variant may have on protein structure and function. On a molecular level, the impact of this missense variant on protein structure and function is not known and thus we consider this to be a variant of uncertain significance. Furthermore, based on the currently available information, cancer risks associated with this variant, and the RAD50 gene, remain unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024