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NM_005591.4(MRE11):c.504G>A (p.Leu168=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 30, 2020
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:
RCV002460863.2

Allele description [Variation Report for NM_005591.4(MRE11):c.504G>A (p.Leu168=)]

NM_005591.4(MRE11):c.504G>A (p.Leu168=)

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.504G>A (p.Leu168=)
HGVS:
  • NC_000011.10:g.94478775C>T
  • NG_007261.1:g.20100G>A
  • NM_001330347.2:c.504G>A
  • NM_005590.4:c.504G>A
  • NM_005591.4:c.504G>AMANE SELECT
  • NP_001317276.1:p.Leu168=
  • NP_005581.2:p.Leu168=
  • NP_005582.1:p.Leu168=
  • NP_005582.1:p.Leu168=
  • LRG_85t1:c.504G>A
  • LRG_85:g.20100G>A
  • LRG_85p1:p.Leu168=
  • NC_000011.9:g.94211941C>T
  • NM_005591.3:c.504G>A
Molecular consequence:
  • NM_001330347.2:c.504G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005590.4:c.504G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005591.4:c.504G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002754608Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 30, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002754608.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024