NM_000251.3(MSH2):c.2094G>A (p.Glu698=) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Dec 6, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000679303.8

Allele description [Variation Report for NM_000251.3(MSH2):c.2094G>A (p.Glu698=)]

NM_000251.3(MSH2):c.2094G>A (p.Glu698=)

Gene:

MSH2:mutS homolog 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2094G>A (p.Glu698=)

HGVS:

NC_000002.12:g.47476455G>A
NG_007110.2:g.78332G>A
NM_000251.3:c.2094G>AMANE SELECT
NM_001258281.1:c.1896G>A
NP_000242.1:p.Glu698=
NP_000242.1:p.Glu698=
NP_001245210.1:p.Glu632=
LRG_218t1:c.2094G>A
LRG_218:g.78332G>A
LRG_218p1:p.Glu698=
NC_000002.11:g.47703594G>A
NM_000251.1:c.2094G>A
NM_000251.2:c.2094G>A

Links:

dbSNP: rs773555449

NCBI 1000 Genomes Browser:

rs773555449

Molecular consequence:

NM_000251.3:c.2094G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001258281.1:c.1896G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000806023	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Oct 23, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001469809	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Dec 6, 2019)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27516001, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000806023

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Oct 23, 2017)

germline

clinical testing

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

SCV001469809

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Dec 6, 2019)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing.

Zampiga V, Danesi R, Tedaldi G, Tebaldi M, Cangini I, Pirini F, Pittureri C, Amaducci E, Guidi L, Faedi M, Amadori D, Falcini F, Calistri D.

Int J Biol Markers. 2016 Dec 23;31(4):e461-e465. doi: 10.5301/jbm.5000227.

PubMed [citation]

PMID:: 27516001

See all PubMed Citations (3)

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000806023.1

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

#	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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469809.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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

Last Updated: Sep 29, 2024

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