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NM_005591.4(MRE11):c.1492G>A (p.Asp498Asn) AND Ataxia-telangiectasia-like disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 2, 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:
RCV002229550.5

Allele description [Variation Report for NM_005591.4(MRE11):c.1492G>A (p.Asp498Asn)]

NM_005591.4(MRE11):c.1492G>A (p.Asp498Asn)

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.1492G>A (p.Asp498Asn)
HGVS:
  • NC_000011.10:g.94459416C>T
  • NG_007261.1:g.39459G>A
  • NM_001330347.2:c.1492G>A
  • NM_005590.4:c.1492G>A
  • NM_005591.4:c.1492G>AMANE SELECT
  • NP_001317276.1:p.Asp498Asn
  • NP_005581.2:p.Asp498Asn
  • NP_005582.1:p.Asp498Asn
  • NP_005582.1:p.Asp498Asn
  • LRG_85t1:c.1492G>A
  • LRG_85:g.39459G>A
  • LRG_85p1:p.Asp498Asn
  • NC_000011.9:g.94192582C>T
  • NM_005591.3:c.1492G>A
Protein change:
D498N
Links:
dbSNP: rs564511708
NCBI 1000 Genomes Browser:
rs564511708
Molecular consequence:
  • NM_001330347.2:c.1492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005590.4:c.1492G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005591.4:c.1492G>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
SCV002509595Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Nov 2, 2023)
germlineclinical testing

PubMed (2)
[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 next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan.

Prokofyeva DS, Mingazheva ET, Valova YV, Sakaeva DD, Faishanova RR, Nurgalieva AK, Valiev RR, Bogdanova N, Dörk T, Khusnutdinova EK.

J Ovarian Res. 2023 Apr 4;16(1):66. doi: 10.1186/s13048-023-01119-z.

PubMed [citation]
PMID:
37013556
PMCID:
PMC10071671

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002509595.3

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

Description

This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 498 of the MRE11 protein (p.Asp498Asn). This variant is present in population databases (rs564511708, gnomAD 0.007%). This missense change has been observed in individual(s) with ovarian cancer (PMID: 37013556). ClinVar contains an entry for this variant (Variation ID: 230726). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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

Last Updated: Sep 29, 2024