NM_000251.3(MSH2):c.2432del (p.Thr810_Leu811insTer) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 2, 2019
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV002450462.2
Allele description [Variation Report for NM_000251.3(MSH2):c.2432del (p.Thr810_Leu811insTer)]
NM_000251.3(MSH2):c.2432del (p.Thr810_Leu811insTer)
- Gene:
- MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
- Variant type:
- Deletion
- Cytogenetic location:
- 2p21
- Genomic location:
- Preferred name:
- NM_000251.3(MSH2):c.2432del (p.Thr810_Leu811insTer)
- HGVS:
- NC_000002.12:g.47478493del
- NG_007110.2:g.80370del
- NM_000251.3:c.2432delMANE SELECT
- NM_001258281.1:c.2234del
- NM_001406631.1:c.2432delT
- NM_001406632.1:c.2432delT
- NM_001406633.1:c.2432delT
- NM_001406634.1:c.2432delT
- NM_001406635.1:c.2432delT
- NM_001406636.1:c.2399delT
- NM_001406637.1:c.2432delT
- NM_001406638.1:c.2471delT
- NM_001406639.1:c.2432delT
- NM_001406640.1:c.2432delT
- NM_001406641.1:c.2432delT
- NM_001406642.1:c.2432delT
- NM_001406643.1:c.2432delT
- NM_001406644.1:c.2432delT
- NM_001406645.1:c.2432delT
- NM_001406646.1:c.2432delT
- NM_001406647.1:c.2282delT
- NM_001406648.1:c.2432delT
- NM_001406649.1:c.2282delT
- NM_001406650.1:c.2282delT
- NM_001406651.1:c.2282delT
- NM_001406652.1:c.2282delT
- NM_001406653.1:c.2372delT
- NM_001406654.1:c.2012delT
- NM_001406656.1:c.1535delT
- NM_001406658.1:c.1076delT
- NM_001406659.1:c.1076delT
- NM_001406660.1:c.1076delT
- NM_001406661.1:c.1076delT
- NM_001406662.1:c.1076delT
- NM_001406669.1:c.1076delT
- NM_001406674.1:c.2432delT
- NP_000242.1:p.Leu811Terfs
- NP_000242.1:p.Thr810_Leu811insTer
- NP_001245210.1:p.Thr744_Leu745insTer
- NP_001393560.1:p.Leu811Terfs
- NP_001393561.1:p.Leu811Terfs
- NP_001393562.1:p.Leu811Terfs
- NP_001393563.1:p.Leu811Terfs
- NP_001393564.1:p.Leu811Terfs
- NP_001393565.1:p.Leu800Terfs
- NP_001393566.1:p.Leu811Terfs
- NP_001393567.1:p.Leu824Terfs
- NP_001393568.1:p.Leu811Terfs
- NP_001393569.1:p.Leu811Terfs
- NP_001393570.1:p.Leu811Terfs
- NP_001393571.1:p.Leu811Terfs
- NP_001393572.1:p.Leu811Terfs
- NP_001393573.1:p.Leu811Terfs
- NP_001393574.1:p.Leu811Terfs
- NP_001393575.1:p.Leu811Terfs
- NP_001393576.1:p.Leu761Terfs
- NP_001393577.1:p.Leu811Terfs
- NP_001393578.1:p.Leu761Terfs
- NP_001393579.1:p.Leu761Terfs
- NP_001393580.1:p.Leu761Terfs
- NP_001393581.1:p.Leu761Terfs
- NP_001393582.1:p.Leu791Terfs
- NP_001393583.1:p.Leu671Terfs
- NP_001393585.1:p.Leu512Terfs
- NP_001393587.1:p.Leu359Terfs
- NP_001393588.1:p.Leu359Terfs
- NP_001393589.1:p.Leu359Terfs
- NP_001393590.1:p.Leu359Terfs
- NP_001393591.1:p.Leu359Terfs
- NP_001393598.1:p.Leu359Terfs
- NP_001393603.1:p.Leu811Terfs
- LRG_218t1:c.2432del
- LRG_218:g.80370del
- LRG_218p1:p.Leu811Terfs
- NC_000002.11:g.47705632del
- NM_000251.1:c.2432delT
- NM_000251.2:c.2432delT
- NR_176230.1:n.2468delT
- NR_176231.1:n.2436delT
- NR_176232.1:n.2468delT
- NR_176233.1:n.2310delT
- NR_176234.1:n.2468delT
- NR_176235.1:n.2468delT
- NR_176236.1:n.2468delT
- NR_176237.1:n.2468delT
- NR_176238.1:n.2601delT
- NR_176239.1:n.2468delT
- NR_176240.1:n.2263delT
- NR_176241.1:n.2468delT
- NR_176242.1:n.2468delT
- NR_176243.1:n.2318delT
- NR_176244.1:n.2468delT
- NR_176245.1:n.2468delT
- NR_176246.1:n.2468delT
- NR_176247.1:n.2468delT
- NR_176248.1:n.2468delT
- NR_176249.1:n.2698delT
- NR_176250.1:n.2208delT
This HGVS expression did not pass validation- Molecular consequence:
- NM_001406631.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406632.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406633.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406634.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406635.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406636.1:c.2399delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406637.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406638.1:c.2471delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406639.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406640.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406641.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406642.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406643.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406644.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406645.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406646.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406647.1:c.2282delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406648.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406649.1:c.2282delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406650.1:c.2282delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406651.1:c.2282delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406652.1:c.2282delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406653.1:c.2372delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406654.1:c.2012delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406656.1:c.1535delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406658.1:c.1076delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406659.1:c.1076delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406660.1:c.1076delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406661.1:c.1076delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406662.1:c.1076delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406669.1:c.1076delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406674.1:c.2432delT - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_000251.3:c.2432del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001258281.1:c.2234del - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406631.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406632.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406633.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406634.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406635.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406636.1:c.2399delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406637.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406638.1:c.2471delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406639.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406640.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406641.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406642.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406643.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406644.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406645.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406646.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406647.1:c.2282delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406648.1:c.2432delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406649.1:c.2282delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406650.1:c.2282delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406651.1:c.2282delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406652.1:c.2282delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406653.1:c.2372delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406654.1:c.2012delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406656.1:c.1535delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406658.1:c.1076delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406659.1:c.1076delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406660.1:c.1076delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406661.1:c.1076delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406662.1:c.1076delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406669.1:c.1076delT - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406674.1:c.2432delT - 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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV002735304 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Pathogenic (Apr 2, 2019) | germline | clinical testing |
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 |
Citations
PubMed
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
Bonadona V, Bonaïti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, Colas C, Noguès C, Lejeune-Dumoulin S, Olivier-Faivre L, Polycarpe-Osaer F, Nguyen TD, Desseigne F, Saurin JC, Berthet P, Leroux D, Duffour J, Manouvrier S, et al.
JAMA. 2011 Jun 8;305(22):2304-10. doi: 10.1001/jama.2011.743.
- PMID:
- 21642682
Details of each submission
From Ambry Genetics, SCV002735304.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
The c.2432delT pathogenic mutation, located in coding exon 14 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 2432, causing a translational frameshift with a predicted alternate stop codon (p.L811*). This mutation, designated 2432del (Leu811X), has been reported in a French family with HNPCC (Bonadona V et al. JAMA, 2011 Jun;305:2304-10). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
# | 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