NM_005591.4(MRE11):c.1810C>T (p.Arg604Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 12, 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:: RCV000216092.5

Allele description [Variation Report for NM_005591.4(MRE11):c.1810C>T (p.Arg604Cys)]

NM_005591.4(MRE11):c.1810C>T (p.Arg604Cys)

Gene:

MRE11:MRE11 homolog, double strand break repair nuclease [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q21

Genomic location:

Preferred name:

NM_005591.4(MRE11):c.1810C>T (p.Arg604Cys)

HGVS:

NC_000011.10:g.94445867G>A
NG_007261.1:g.53008C>T
NM_001330347.2:c.1807C>T
NM_005590.4:c.1783+1352C>T
NM_005591.4:c.1810C>TMANE SELECT
NP_001317276.1:p.Arg603Cys
NP_005582.1:p.Arg604Cys
NP_005582.1:p.Arg604Cys
LRG_85t1:c.1810C>T
LRG_85:g.53008C>T
LRG_85p1:p.Arg604Cys
NC_000011.9:g.94179033G>A
NM_005591.3:c.1810C>T

Protein change:

R603C

Links:

dbSNP: rs750926542

NCBI 1000 Genomes Browser:

rs750926542

Molecular consequence:

NM_005590.4:c.1783+1352C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001330347.2:c.1807C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005591.4:c.1810C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000274635	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 12, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000274635

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 12, 2019)

germline

clinical testing

Citation Link

Help

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, SCV000274635.7

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

Description

The p.R604C variant (also known as c.1810C>T), located in coding exon 15 of the MRE11A gene, results from a C to T substitution at nucleotide position 1810. The arginine at codon 604 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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: Sep 29, 2024

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