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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

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:
1

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001171216Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jul 7, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001171216.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 3, 2022

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