NM_005591.4(MRE11):c.1341A>T (p.Ser447=) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Jul 7, 2021)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

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Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV001010950.2

Allele description [Variation Report for NM_005591.4(MRE11):c.1341A>T (p.Ser447=)]

NM_005591.4(MRE11):c.1341A>T (p.Ser447=)

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.1341A>T (p.Ser447=)

HGVS:

NC_000011.10:g.94459567T>A
NG_007261.1:g.39308A>T
NM_001330347.2:c.1341A>T
NM_005590.4:c.1341A>T
NM_005591.4:c.1341A>TMANE SELECT
NP_001317276.1:p.Ser447=
NP_005581.2:p.Ser447=
NP_005582.1:p.Ser447=
NP_005582.1:p.Ser447=
LRG_85t1:c.1341A>T
LRG_85:g.39308A>T
LRG_85p1:p.Ser447=
NC_000011.9:g.94192733T>A
NM_005591.3:c.1341A>T

Links:

dbSNP: rs762323327

NCBI 1000 Genomes Browser:

rs762323327

Molecular consequence:

NM_001330347.2:c.1341A>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_005590.4:c.1341A>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_005591.4:c.1341A>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001171216	Ambry Genetics	criteria provided, single submitter Ambry General Variant Classification Scheme_2022	Uncertain significance (Jul 7, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001171216

Ambry Genetics

criteria provided, single submitter

Ambry General Variant Classification Scheme_2022

Uncertain significance
(Jul 7, 2021)

germline

clinical testing

Citation Link

Summary from all submissions

Help

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

Details of each submission

From Ambry Genetics, SCV001171216.3

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

Description

The c.1341A>T variant (also known as p.S447S), located in coding exon 12 of the MRE11A gene, results from an A to T substitution at nucleotide position 1341. This nucleotide substitution does not change the serine at codon 447. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site; however, direct evidence is unavailable. 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	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 3, 2022

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