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NM_005591.4(MRE11):c.1492G>A (p.Asp498Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 19, 2022
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:
RCV000217443.4

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:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000274372Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 19, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000274372.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.D498N variant (also known as c.1492G>A), located in coding exon 12 of the MRE11A gene, results from a G to A substitution at nucleotide position 1492. The aspartic acid at codon 498 is replaced by asparagine, an amino acid with highly similar properties. 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024