NM_005732.4(RAD50):c.964T>C (p.Leu322=) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Jun 13, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001019588.2

Allele description [Variation Report for NM_005732.4(RAD50):c.964T>C (p.Leu322=)]

NM_005732.4(RAD50):c.964T>C (p.Leu322=)

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.964T>C (p.Leu322=)
HGVS:
  • NC_000005.10:g.132588002T>C
  • NG_021151.1:g.36079T>C
  • NG_021151.2:g.36026T>C
  • NM_005732.4:c.964T>CMANE SELECT
  • NP_005723.2:p.Leu322=
  • LRG_312t1:c.964T>C
  • LRG_312:g.36026T>C
  • LRG_312p1:p.Leu322=
  • NC_000005.9:g.131923694T>C
  • NM_005732.3:c.964T>C
Links:
dbSNP: rs1580992200
NCBI 1000 Genomes Browser:
rs1580992200
Molecular consequence:
  • NM_005732.4:c.964T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001180967Ambry Geneticscriteria provided, single submitter
Likely benign
(Aug 27, 2019)
germlineclinical testing

Citation Link,

SCV001633346Invitaecriteria provided, single submitter
Likely benign
(Jun 13, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Ambry Genetics, SCV001180967.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Invitae, SCV001633346.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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