NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 13, 2023
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:: RCV000129216.14

Allele description [Variation Report for NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)]

NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)

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.1516G>T (p.Glu506Ter)

HGVS:

NC_000011.10:g.94456323C>A
NG_007261.1:g.42552G>T
NM_001330347.2:c.1516G>T
NM_005590.4:c.1516G>T
NM_005591.4:c.1516G>TMANE SELECT
NP_001317276.1:p.Glu506Ter
NP_005581.2:p.Glu506Ter
NP_005582.1:p.Glu506Ter
NP_005582.1:p.Glu506Ter
LRG_85t1:c.1516G>T
LRG_85:g.42552G>T
LRG_85p1:p.Glu506Ter
NC_000011.9:g.94189489C>A
NM_005590.3:c.1516G>T
NM_005591.3:c.1516G>T
p.E506*

Protein change:

E506*

Links:

dbSNP: rs587781384

NCBI 1000 Genomes Browser:

rs587781384

Molecular consequence:

NM_001330347.2:c.1516G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_005590.4:c.1516G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_005591.4:c.1516G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV000183967	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 13, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000183967

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 13, 2023)

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	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Improving performance of multigene panels for genomic analysis of cancer predisposition.

Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC.

Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4.

PubMed [citation]

PMID:: 26845104

Details of each submission

From Ambry Genetics, SCV000183967.8

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

Description

The p.E506* pathogenic mutation (also known as c.1516G>T), located in coding exon 13 of the MRE11A gene, results from a G to T substitution at nucleotide position 1516. This changes the amino acid from a glutamic acid to a stop codon within coding exon 13. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV000266186.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000266186	University of Washington Department of Laboratory Medicine, University of Washington	flagged submission Reason: Older and outlier claim with insufficient supporting evidence Notes: None (Shirts et al. (Genet Med 2016))	Uncertain significance (Nov 20, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000266186

University of Washington Department of Laboratory Medicine, University of Washington

flagged submission

Reason: Older and outlier claim with insufficient supporting evidence

Notes: None

(Shirts et al. (Genet Med 2016))

Uncertain significance
(Nov 20, 2015)

germline

clinical testing

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

Last Updated: Oct 20, 2024

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Relating variation to medicine