NM_005591.4(MRE11):c.2029C>T (p.Gln677Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 21, 2024
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:: RCV004636746.1

Allele description [Variation Report for NM_005591.4(MRE11):c.2029C>T (p.Gln677Ter)]

NM_005591.4(MRE11):c.2029C>T (p.Gln677Ter)

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.2029C>T (p.Gln677Ter)

HGVS:

NC_000011.10:g.94429952G>A
NG_007261.1:g.68923C>T
NM_001330347.2:c.2026C>T
NM_005590.4:c.1945C>T
NM_005591.4:c.2029C>TMANE SELECT
NP_001317276.1:p.Gln676Ter
NP_005581.2:p.Gln649Ter
NP_005582.1:p.Gln677Ter
NP_005582.1:p.Gln677Ter
LRG_85t1:c.2029C>T
LRG_85:g.68923C>T
LRG_85p1:p.Gln677Ter
NC_000011.9:g.94163118G>A
NM_005591.3:c.2029C>T
NM_005591.3:c.2029C>T

Protein change:

Q649*

Molecular consequence:

NM_001330347.2:c.2026C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_005590.4:c.1945C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_005591.4:c.2029C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005136312	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 21, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005136312

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 21, 2024)

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, SCV005136312.1

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

Description

The p.Q677* variant (also known as c.2029C>T), located in coding exon 18 of the MRE11A gene, results from a C to T substitution at nucleotide position 2029. This changes the amino acid from a glutamine to a stop codon within coding exon 18. This alteration occurs at the 3' terminus of theMRE11A gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 4.5% of the protein. The exact functional effect of this alteration is unknown. Based on the available evidence, 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: Aug 11, 2024

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