NM_005591.4(MRE11):c.1225+19T>C AND not provided

Clinical significance:Benign (Last evaluated: May 4, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000586234.3

Allele description [Variation Report for NM_005591.4(MRE11):c.1225+19T>C]

NM_005591.4(MRE11):c.1225+19T>C

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.1225+19T>C
HGVS:
  • NC_000011.10:g.94464094A>G
  • NG_007261.1:g.34781T>C
  • NM_001330347.2:c.1225+19T>C
  • NM_005590.4:c.1225+19T>C
  • NM_005591.4:c.1225+19T>CMANE SELECT
  • LRG_85t1:c.1225+19T>C
  • LRG_85:g.34781T>C
  • NC_000011.9:g.94197260A>G
  • NM_005591.3:c.1225+19T>C
Links:
dbSNP: rs641936
NCBI 1000 Genomes Browser:
rs641936
Molecular consequence:
  • NM_001330347.2:c.1225+19T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005590.4:c.1225+19T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005591.4:c.1225+19T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000698603Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Benign
(May 4, 2016)
germlineclinical testing

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

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001759925GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene.

Bartkova J, Tommiska J, Oplustilova L, Aaltonen K, Tamminen A, Heikkinen T, Mistrik M, Aittomäki K, Blomqvist C, Heikkilä P, Lukas J, Nevanlinna H, Bartek J.

Mol Oncol. 2008 Dec;2(4):296-316. doi: 10.1016/j.molonc.2008.09.007. Epub 2008 Oct 7.

PubMed [citation]
PMID:
19383352
PMCID:
PMC5527773

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698603.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: c.1225+19T>C in MRE11A gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.378 (45400/120008 chrs tested), including numerous homozygous occurrence. The observed frequencies exceed the maximum expected allele frequency for a pathogenic variant of 0.006%, suggesting that it is a benign polymorphism. The variant of interest has been reported as Benign/Polymorphism by reputable databases/clinical laboratory and in published reports (Bartkova, 2008). Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001759925.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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