NM_005591.4(MRE11):c.1163G>A (p.Arg388Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 17, 2022
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:: RCV000115903.9

Allele description [Variation Report for NM_005591.4(MRE11):c.1163G>A (p.Arg388Gln)]

NM_005591.4(MRE11):c.1163G>A (p.Arg388Gln)

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.1163G>A (p.Arg388Gln)

Other names:

p.R388Q:CGG>CAG

HGVS:

NC_000011.10:g.94464175C>T
NG_007261.1:g.34700G>A
NM_001330347.2:c.1163G>A
NM_005590.4:c.1163G>A
NM_005591.4:c.1163G>AMANE SELECT
NP_001317276.1:p.Arg388Gln
NP_005581.2:p.Arg388Gln
NP_005582.1:p.Arg388Gln
NP_005582.1:p.Arg388Gln
LRG_85t1:c.1163G>A
LRG_85:g.34700G>A
LRG_85p1:p.Arg388Gln
NC_000011.9:g.94197341C>T
NM_005591.3:c.1163G>A
p.R388Q

Protein change:

R388Q

Links:

dbSNP: rs587780134

NCBI 1000 Genomes Browser:

rs587780134

Molecular consequence:

NM_001330347.2:c.1163G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005590.4:c.1163G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005591.4:c.1163G>A - 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
SCV000218230	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 17, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000218230

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 17, 2022)

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, SCV000218230.7

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

Description

The p.R388Q variant (also known as c.1163G>A), located in coding exon 10 of the MRE11A gene, results from a G to A substitution at nucleotide position 1163. The arginine at codon 388 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is 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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