NM_005591.3(MRE11):c.391G>A (p.Asp131Asn) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Jun 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000130877.5

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]
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; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000185782Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jun 17, 2020)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

Li J, Meeks H, Feng BJ, Healey S, Thorne H, Makunin I, Ellis J; kConFab Investigators., Campbell I, Southey M, Mitchell G, Clouston D, Kirk J, Goldgar D, Chenevix-Trench G.

J Med Genet. 2016 Jan;53(1):34-42. doi: 10.1136/jmedgenet-2015-103452. Epub 2015 Nov 3.

PubMed [citation]
PMID:
26534844
PMCID:
PMC4915734

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

Details of each submission

From Ambry Genetics, SCV000185782.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.D131N variant (also known as c.391G>A), located in coding exon 4 of the MRE11A gene, results from a G to A substitution at nucleotide position 391. The aspartic acid at codon 131 is replaced by asparagine, an amino acid with highly similar properties. This alteration was identified in one individual from a cohort of 660 BRCA1/2 negative women with hereditary breast cancer who underwent multi-gene panel testing (Li J et al. J. Med. Genet. 2016 Jan;53:34-42). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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: Oct 6, 2021

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