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NM_005591.4(MRE11):c.1979C>A (p.Ser660Ter) AND Ataxia-telangiectasia-like disorder

Clinical significance:Pathogenic (Last evaluated: Aug 29, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV002239096.1

Allele description [Variation Report for NM_005591.4(MRE11):c.1979C>A (p.Ser660Ter)]

NM_005591.4(MRE11):c.1979C>A (p.Ser660Ter)

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.1979C>A (p.Ser660Ter)
HGVS:
  • NC_000011.10:g.94435847G>T
  • NG_007261.1:g.63028C>A
  • NM_001330347.2:c.1976C>A
  • NM_005590.4:c.1895C>A
  • NM_005591.4:c.1979C>AMANE SELECT
  • NP_001317276.1:p.Ser659Ter
  • NP_005581.2:p.Ser632Ter
  • NP_005582.1:p.Ser660Ter
  • LRG_85:g.63028C>A
  • NC_000011.9:g.94169013G>T
Protein change:
S632*
Molecular consequence:
  • NM_001330347.2:c.1976C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005590.4:c.1895C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005591.4:c.1979C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002509546Invitaecriteria provided, single submitter
Pathogenic
(Aug 29, 2021)
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

Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair.

Limbo O, Moiani D, Kertokalio A, Wyman C, Tainer JA, Russell P.

Nucleic Acids Res. 2012 Dec;40(22):11435-49. doi: 10.1093/nar/gks954. Epub 2012 Oct 17.

PubMed [citation]
PMID:
23080121
PMCID:
PMC3526295

Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.

Regal JA, Festerling TA, Buis JM, Ferguson DO.

Hum Mol Genet. 2013 Dec 20;22(25):5146-59. doi: 10.1093/hmg/ddt368. Epub 2013 Aug 2.

PubMed [citation]
PMID:
23912341
PMCID:
PMC3842175
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002509546.1

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

Description

This sequence change creates a premature translational stop signal (p.Ser660*) in the MRE11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 29, 2022