NM_005591.4(MRE11):c.391G>A (p.Asp131Asn) AND Ataxia-telangiectasia-like disorder

Clinical significance:Uncertain significance (Last evaluated: May 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000642460.5

Allele description [Variation Report for NM_005591.4(MRE11):c.391G>A (p.Asp131Asn)]

NM_005591.4(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_005591.4(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
  • NM_005591.4:c.391G>AMANE SELECT
  • NP_001317276.1:p.Asp131Asn
  • NP_005581.2:p.Asp131Asn
  • NP_005582.1: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
  • 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]
  • NM_005591.4:c.391G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ataxia-telangiectasia-like disorder (ATLD)
Identifiers:
MONDO: MONDO:0011457; MedGen: C1858391; OMIM: PS604391

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000764141Invitaecriteria provided, single submitter
Uncertain significance
(May 27, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot 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
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000764141.5

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

Description

This sequence change replaces aspartic acid with asparagine at codon 131 of the MRE11 protein (p.Asp131Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs368403414, ExAC 0.01%). This variant has been observed in individuals affected with breast and/or ovarian cancer (PMID: 26534844, 26898890). ClinVar contains an entry for this variant (Variation ID: 142063). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C1). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 5

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

Last Updated: Oct 25, 2021

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