NM_005591.4(MRE11):c.1843_1848del (p.Ser615_Arg616del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 7, 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:: RCV000568026.5

Allele description [Variation Report for NM_005591.4(MRE11):c.1843_1848del (p.Ser615_Arg616del)]

NM_005591.4(MRE11):c.1843_1848del (p.Ser615_Arg616del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

11q21

Genomic location:

Preferred name:

NM_005591.4(MRE11):c.1843_1848del (p.Ser615_Arg616del)

HGVS:

NC_000011.10:g.94445830_94445835del
NG_007261.1:g.53041_53046del
NM_001330347.2:c.1840_1845del
NM_005590.4:c.1783+1385_1783+1390del
NM_005591.4:c.1843_1848delMANE SELECT
NP_001317276.1:p.Ser614_Arg615del
NP_005582.1:p.Ser615_Arg616del
LRG_85:g.53041_53046del
NC_000011.9:g.94178996_94179001del
NM_005591.3:c.1843_1848delTCTAGA

Links:

dbSNP: rs1555004775

NCBI 1000 Genomes Browser:

rs1555004775

Molecular consequence:

NM_001330347.2:c.1840_1845del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_005591.4:c.1843_1848del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_005590.4:c.1783+1385_1783+1390del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000669661	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 7, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000669661

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 7, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000669661.6

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

Description

The c.1843_1848delTCTAGA variant (also known as p.S615_R616del) is located in coding exon 15 of the MRE11A gene. This variant results from an in-frame TCTAGA deletion at nucleotide positions 1843 to 1848. This results in the in-frame deletion of 2 residues (SR) at codons 615 to 616. This amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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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