NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:: Sep 13, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000114896.31

Allele description [Variation Report for NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)]

NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)

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.1480G>A (p.Glu494Lys)

HGVS:

NC_000011.10:g.94459428C>T
NG_007261.1:g.39447G>A
NM_001330347.2:c.1480G>A
NM_005590.4:c.1480G>A
NM_005591.4:c.1480G>AMANE SELECT
NP_001317276.1:p.Glu494Lys
NP_005581.2:p.Glu494Lys
NP_005582.1:p.Glu494Lys
NP_005582.1:p.Glu494Lys
LRG_85t1:c.1480G>A
LRG_85:g.39447G>A
LRG_85p1:p.Glu494Lys
NC_000011.8:g.93832242C>T
NC_000011.9:g.94192594C>T
NM_005591.3:c.1480G>A
p.E494K

Protein change:

E494K

Links:

dbSNP: rs104895016

NCBI 1000 Genomes Browser:

rs104895016

Molecular consequence:

NM_001330347.2:c.1480G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005590.4:c.1480G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005591.4:c.1480G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PNLIP [Propithecus coquereli]
PNLIP [Propithecus coquereli]
Gene ID:105825972

Gene
LOC101748744 serine protease 23-like [Gallus gallus]
LOC101748744 serine protease 23-like [Gallus gallus]
Gene ID:101748744

Gene
WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 [Homo sapien...
WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 [Homo sapiens]
Gene ID:151525

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000148791	Harris Lab, University of Minnesota	no classification provided	not provided	unknown	not provided
SCV000614120	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely benign (Jul 15, 2020)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25452441, 26898890, 26467025
SCV001248580	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Aug 1, 2019)	germline	clinical testing	Citation Link,
SCV001872700	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 13, 2024)	germline	clinical testing	Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, Olson JE, Godwin AK, Pankratz VS, Olswold C, Slettedahl S, Hallberg E, Guidugli L, Davila JI, Beckmann MW, Janni W, Rack B, Ekici AB, Slamon DJ, Konstantopoulou I, Fostira F, Vratimos A, et al.

J Clin Oncol. 2015 Feb 1;33(4):304-11. doi: 10.1200/JCO.2014.57.1414. Epub 2014 Dec 1.

PubMed [citation]

PMID:: 25452441
PMCID:: PMC4302212

Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

Caminsky NG, Mucaki EJ, Perri AM, Lu R, Knoll JH, Rogan PK.

Hum Mutat. 2016 Jul;37(7):640-52. doi: 10.1002/humu.22972. Epub 2016 Mar 18.

PubMed [citation]

PMID:: 26898890

See all PubMed Citations (3)

Details of each submission

From Harris Lab, University of Minnesota, SCV000148791.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

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

From Athena Diagnostics, SCV000614120.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

From CeGaT Center for Human Genetics Tuebingen, SCV001248580.26

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

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

From GeneDx, SCV001872700.3

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

Description

Observed in individuals with breast cancer and present only in controls in a study of common variable immunodeficiency (CVID) (PMID: 26898890, 25452441, 20805886); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25452441, 26898890, 25344691, 20805886)

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

Last Updated: Oct 20, 2024

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