NM_005591.3(MRE11):c.391G>A (p.Asp131Asn) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Apr 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000781547.1

Allele description [Variation Report for NM_005591.3(MRE11):c.391G>A (p.Asp131Asn)]

NM_005591.3(MRE11):c.391G>A (p.Asp131Asn)

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_005591.3(MRE11):c.391G>A (p.Asp131Asn)
HGVS:
  • NC_000011.10:g.94479685C>T
  • NG_007261.1:g.19190G>A
  • NM_001330347.2:c.391G>A
  • NM_005590.4:c.391G>A
  • NM_005591.3:c.391G>A
  • NP_001317276.1:p.Asp131Asn
  • NP_005581.2:p.Asp131Asn
  • NP_005582.1:p.Asp131Asn
  • LRG_85t1:c.391G>A
  • LRG_85:g.19190G>A
  • LRG_85p1:p.Asp131Asn
  • NC_000011.9:g.94212851C>T
  • p.D131N
Protein change:
D131N
Links:
dbSNP: rs368403414
NCBI 1000 Genomes Browser:
rs368403414
Molecular consequence:
  • NM_001330347.2:c.391G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005590.4:c.391G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005591.3:c.391G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000919676Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Apr 6, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A.

Price JC, Pollock LM, Rudd ML, Fogoros SK, Mohamed H, Hanigan CL, Le Gallo M; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program., Zhang S, Cruz P, Cherukuri PF, Hansen NF, McManus KJ, Godwin AK, Sgroi DC, Mullikin JC, Merino MJ, Hieter P, Bell DW.

PLoS One. 2013 Jun 3;8(6):e63313. doi: 10.1371/journal.pone.0063313. Print 2014.

PubMed [citation]
PMID:
23755103
PMCID:
PMC3670891

Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

Caminsky NG, Mucaki EJ, Perri AM, Lu R, Knoll JH, Rogan PK.

Hum Mutat. 2016 Jul;37(7):640-52. doi: 10.1002/humu.22972. Epub 2016 Mar 18.

PubMed [citation]
PMID:
26898890
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919676.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: MRE11A c.391G>A (p.Asp131Asn) results in a conservative amino acid change located in the Calcineurin-like phosphoesterase domain, ApaH type of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.7e-05 in 275990 control chromosomes. This frequency is not higher than expected for a pathogenic variant in MRE11A causing Hereditary Breast and Ovarian Cancer (4.7e-05 vs 6.3e-05), allowing no conclusion about variant significance. c.391G>A has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer. These reports do not provide unequivocal conclusions about an association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Oct 6, 2021

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