NM_000251.3(MSH2):c.2709del (p.Asn903fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 12, 2016
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:: RCV002429061.2

Allele description [Variation Report for NM_000251.3(MSH2):c.2709del (p.Asn903fs)]

NM_000251.3(MSH2):c.2709del (p.Asn903fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2709del (p.Asn903fs)

HGVS:

NC_000002.12:g.47482853del
NG_007110.2:g.84730del
NM_000251.3:c.2709delMANE SELECT
NM_001258281.1:c.2511del
NM_001406638.1:c.2748delC
NM_001406641.1:c.2709delC
NM_001406649.1:c.2559delC
NM_001406650.1:c.2559delC
NM_001406658.1:c.1353delC
NM_001406659.1:c.1353delC
NM_001406660.1:c.1353delC
NM_001406661.1:c.1353delC
NM_001406662.1:c.1353delC
NP_000242.1:p.Asn903Lysfs
NP_000242.1:p.Asn903fs
NP_001245210.1:p.Asn837fs
NP_001393567.1:p.Asn916Lysfs
NP_001393570.1:p.Asn903Lysfs
NP_001393578.1:p.Asn853Lysfs
NP_001393579.1:p.Asn853Lysfs
NP_001393587.1:p.Asn451Lysfs
NP_001393588.1:p.Asn451Lysfs
NP_001393589.1:p.Asn451Lysfs
NP_001393590.1:p.Asn451Lysfs
NP_001393591.1:p.Asn451Lysfs
LRG_218t1:c.2709del
LRG_218:g.84730del
LRG_218p1:p.Asn903Lysfs
NC_000002.11:g.47709992del
NM_000251.1:c.2709delC
NM_000251.2:c.2709delC
NR_176235.1:n.2745delC
NR_176237.1:n.2745delC
NR_176239.1:n.2745delC
NR_176242.1:n.2745delC
NR_176250.1:n.2485delC

Protein change:

N837fs

Molecular consequence:

NM_000251.3:c.2709del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.2511del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.2748delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.2709delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.2559delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.2559delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406658.1:c.1353delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406659.1:c.1353delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406660.1:c.1353delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406661.1:c.1353delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406662.1:c.1353delC - frameshift variant - [Sequence Ontology: SO:0001589]

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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RPL29P22 ribosomal protein L29 pseudogene 22 [Homo sapiens]
RPL29P22 ribosomal protein L29 pseudogene 22 [Homo sapiens]
Gene ID:100271472

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002743514	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 12, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002743514

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 12, 2016)

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, SCV002743514.2

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

Description

The c.2709delC variant, located in coding exon 16 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 2709, causing a translational frameshift with a predicted alternate stop codon (p.N903Kfs*4). Frameshifts are typically deleterious in nature; however, this frameshift occurs at the 3' terminus of MSH2, is not expected to trigger nonsense-mediated mRNA decay, and impacts only the last 32 amino acids of the protein. The exact functional impact of these altered amino acids is unknown at this time. Since supporting evidence is limited at this time, 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: May 1, 2024

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