NM_005591.4(MRE11):c.1792G>C (p.Gly598Arg) AND Ataxia-telangiectasia-like disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 2, 2021
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:: RCV001345107.7

Allele description [Variation Report for NM_005591.4(MRE11):c.1792G>C (p.Gly598Arg)]

NM_005591.4(MRE11):c.1792G>C (p.Gly598Arg)

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.1792G>C (p.Gly598Arg)

HGVS:

NC_000011.10:g.94445885C>G
NG_007261.1:g.52990G>C
NM_001330347.2:c.1789G>C
NM_005590.4:c.1783+1334G>C
NM_005591.4:c.1792G>CMANE SELECT
NP_001317276.1:p.Gly597Arg
NP_005582.1:p.Gly598Arg
NP_005582.1:p.Gly598Arg
LRG_85t1:c.1792G>C
LRG_85:g.52990G>C
LRG_85p1:p.Gly598Arg
NC_000011.9:g.94179051C>G
NM_005591.3:c.1792G>C

Protein change:

G597R

Links:

dbSNP: rs587781951

NCBI 1000 Genomes Browser:

rs587781951

Molecular consequence:

NM_005590.4:c.1783+1334G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330347.2:c.1789G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005591.4:c.1792G>C - 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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DNAJC1 DnaJ heat shock protein family (Hsp40) member C1 [Homo sapiens]
DNAJC1 DnaJ heat shock protein family (Hsp40) member C1 [Homo sapiens]
Gene ID:64215

Gene
64215[uid] AND (alive[prop]) (1)
Gene
Or4d5 olfactory receptor family 4 subfamily D member 5 [Mus musculus]
Or4d5 olfactory receptor family 4 subfamily D member 5 [Mus musculus]
Gene ID:258601

Gene
Related DataSets for GEO Profiles (Select 131939971) (1)
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Multiple myeloma cell lines with acquired resistance to chemotherapeutic agent carfilzomib
Accession: GDS5826

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001539206	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 2, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001539206

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 2, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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, SCV001539206.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MRE11A-related conditions. ClinVar contains an entry for this variant (Variation ID: 216609). This sequence change replaces glycine with arginine at codon 598 of the MRE11A protein (p.Gly598Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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