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NM_005732.4(RAD50):c.3175A>T (p.Lys1059Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 2, 2019
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:
RCV001018975.3

Allele description [Variation Report for NM_005732.4(RAD50):c.3175A>T (p.Lys1059Ter)]

NM_005732.4(RAD50):c.3175A>T (p.Lys1059Ter)

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.3175A>T (p.Lys1059Ter)
HGVS:
  • NC_000005.10:g.132618080A>T
  • NG_021151.2:g.66104A>T
  • NM_005732.4:c.3175A>TMANE SELECT
  • NP_005723.2:p.Lys1059Ter
  • LRG_312t1:c.3175A>T
  • LRG_312:g.66104A>T
  • LRG_312p1:p.Lys1059Ter
  • NC_000005.9:g.131953772A>T
  • NG_021151.1:g.66157A>T
  • NM_005732.3:c.3175A>T
Protein change:
K1059*
Links:
dbSNP: rs1581009347
NCBI 1000 Genomes Browser:
rs1581009347
Molecular consequence:
  • NM_005732.4:c.3175A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001180275Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 2, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001180275.4

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

Description

The p.K1059* pathogenic mutation (also known as c.3175A>T), located in coding exon 21 of the RAD50 gene, results from an A to T substitution at nucleotide position 3175. This changes the amino acid from a lysine to a stop codon within coding exon 21. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024