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NM_005591.4(MRE11):c.1500+1G>A AND Ataxia-telangiectasia-like disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 11, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003592413.2

Allele description [Variation Report for NM_005591.4(MRE11):c.1500+1G>A]

NM_005591.4(MRE11):c.1500+1G>A

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.1500+1G>A
HGVS:
  • NC_000011.10:g.94459407C>T
  • NG_007261.1:g.39468G>A
  • NM_001330347.2:c.1500+1G>A
  • NM_005590.4:c.1500+1G>A
  • NM_005591.4:c.1500+1G>AMANE SELECT
  • LRG_85:g.39468G>A
  • NC_000011.9:g.94192573C>T
Molecular consequence:
  • NM_001330347.2:c.1500+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_005590.4:c.1500+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_005591.4:c.1500+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004247487Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Nov 11, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]
PMID:
16199547
PMCID:
PMC1735933

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
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004247487.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change affects a donor splice site in intron 13 of the MRE11 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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

Last Updated: Sep 29, 2024