NM_005732.4(RAD50):c.1100G>T (p.Arg367Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 24, 2020
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:: RCV002455650.2

Allele description [Variation Report for NM_005732.4(RAD50):c.1100G>T (p.Arg367Ile)]

NM_005732.4(RAD50):c.1100G>T (p.Arg367Ile)

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.1100G>T (p.Arg367Ile)

HGVS:

NC_000005.10:g.132588735G>T
NG_021151.2:g.36759G>T
NM_005732.4:c.1100G>TMANE SELECT
NP_005723.2:p.Arg367Ile
LRG_312t1:c.1100G>T
LRG_312:g.36759G>T
LRG_312p1:p.Arg367Ile
NC_000005.9:g.131924427G>T
NM_005732.3:c.1100G>T

Protein change:

R367I

Molecular consequence:

NM_005732.4:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]

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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Mus musculus predicted gene 8580 (Gm8580), non-coding RNA
Mus musculus predicted gene 8580 (Gm8580), non-coding RNA
gi|226442855|ref|NR_027478.1|

Nucleotide
DNA Polymerase theta
DNA Polymerase theta
A specialized DNA polymerase that in humans is encoded by the POLQ gene. It is involved in DNA repair pathways, including DNA END-JOINING REPAIR and RECOMBINATIONAL DNA REPAIR...<br/>Year introduced: 2024 (1999)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002738845	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 24, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002738845

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 24, 2020)

germline

clinical testing

Citation Link

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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	clinical testing

Details of each submission

From Ambry Genetics, SCV002738845.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.R367I variant (also known as c.1100G>T), located in coding exon 8 of the RAD50 gene, results from a G to T substitution at nucleotide position 1100. The arginine at codon 367 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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