NM_005591.4(MRE11):c.1671C>T (p.Asp557=) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Dec 3, 2014)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

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Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000166949.2

Allele description [Variation Report for NM_005591.4(MRE11):c.1671C>T (p.Asp557=)]

NM_005591.4(MRE11):c.1671C>T (p.Asp557=)

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.1671C>T (p.Asp557=)

HGVS:

NC_000011.10:g.94447331G>A
NG_007261.1:g.51544C>T
NM_001330347.2:c.1671C>T
NM_005590.4:c.1671C>T
NM_005591.4:c.1671C>TMANE SELECT
NP_001317276.1:p.Asp557=
NP_005581.2:p.Asp557=
NP_005582.1:p.Asp557=
NP_005582.1:p.Asp557=
LRG_85t1:c.1671C>T
LRG_85:g.51544C>T
LRG_85p1:p.Asp557=
NC_000011.9:g.94180497G>A
NM_005591.3:c.1671C>T
p.D557D

Links:

dbSNP: rs759466399

NCBI 1000 Genomes Browser:

rs759466399

Molecular consequence:

NM_001330347.2:c.1671C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_005590.4:c.1671C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_005591.4:c.1671C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000217769	Ambry Genetics	criteria provided, single submitter Ambry General Variant Classification Scheme_2022	Likely benign (Dec 3, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000217769

Ambry Genetics

criteria provided, single submitter

Ambry General Variant Classification Scheme_2022

Likely benign
(Dec 3, 2014)

germline

clinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000217769.6

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

Description

This alteration is classified as likely benign based on a combination of the following: 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.

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

Last Updated: Dec 3, 2022

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