NM_000251.3(MSH2):c.2704G>T (p.Glu902Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 20, 2022
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:: RCV004036263.1

Allele description [Variation Report for NM_000251.3(MSH2):c.2704G>T (p.Glu902Ter)]

NM_000251.3(MSH2):c.2704G>T (p.Glu902Ter)

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.2704G>T (p.Glu902Ter)

HGVS:

NC_000002.12:g.47482848G>T
NG_007110.2:g.84725G>T
NM_000251.1:c.2704G>T
NM_000251.3:c.2704G>TMANE SELECT
NM_001258281.1:c.2506G>T
NP_000242.1:p.Glu902Ter
NP_001245210.1:p.Glu836Ter
LRG_218:g.84725G>T
NC_000002.11:g.47709987G>T

Protein change:

E836*

Links:

dbSNP: rs867671639

NCBI 1000 Genomes Browser:

rs867671639

Molecular consequence:

NM_000251.3:c.2704G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001258281.1:c.2506G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV005002127	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 20, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005002127

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 20, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV005002127.1

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

Description

The c.2704G>T (p.E902*) alteration, located in exon 16 (coding exon 16) of the MSH2 gene, consists of a G to T substitution at nucleotide position 2704. This changes the amino acid from a glutamic acid (E) to a stop codon at amino acid position 902. Premature stop codons are typically deleterious in nature (Richards, 2015). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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