NM_000251.3(MSH2):c.2111_2119del (p.Ile704_Cys707delinsSer) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 2, 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:: RCV002417490.2

Allele description [Variation Report for NM_000251.3(MSH2):c.2111_2119del (p.Ile704_Cys707delinsSer)]

NM_000251.3(MSH2):c.2111_2119del (p.Ile704_Cys707delinsSer)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2111_2119del (p.Ile704_Cys707delinsSer)

HGVS:

NC_000002.12:g.47476472_47476480del
NG_007110.2:g.78349_78357del
NM_000251.3:c.2111_2119delMANE SELECT
NM_001258281.1:c.1913_1921del
NM_001406631.1:c.2111_2119delTTGTGGACT
NM_001406632.1:c.2111_2119delTTGTGGACT
NM_001406633.1:c.2111_2119delTTGTGGACT
NM_001406634.1:c.2111_2119delTTGTGGACT
NM_001406635.1:c.2111_2119delTTGTGGACT
NM_001406636.1:c.2078_2086delTTGTGGACT
NM_001406637.1:c.2111_2119delTTGTGGACT
NM_001406638.1:c.2150_2158delTTGTGGACT
NM_001406639.1:c.2111_2119delTTGTGGACT
NM_001406640.1:c.2111_2119delTTGTGGACT
NM_001406641.1:c.2111_2119delTTGTGGACT
NM_001406642.1:c.2111_2119delTTGTGGACT
NM_001406643.1:c.2111_2119delTTGTGGACT
NM_001406644.1:c.2111_2119delTTGTGGACT
NM_001406645.1:c.2111_2119delTTGTGGACT
NM_001406646.1:c.2111_2119delTTGTGGACT
NM_001406647.1:c.1961_1969delTTGTGGACT
NM_001406648.1:c.2111_2119delTTGTGGACT
NM_001406649.1:c.1961_1969delTTGTGGACT
NM_001406650.1:c.1961_1969delTTGTGGACT
NM_001406651.1:c.1961_1969delTTGTGGACT
NM_001406652.1:c.1961_1969delTTGTGGACT
NM_001406653.1:c.2051_2059delTTGTGGACT
NM_001406654.1:c.1691_1699delTTGTGGACT
NM_001406656.1:c.1214_1222delTTGTGGACT
NM_001406658.1:c.755_763delTTGTGGACT
NM_001406659.1:c.755_763delTTGTGGACT
NM_001406660.1:c.755_763delTTGTGGACT
NM_001406661.1:c.755_763delTTGTGGACT
NM_001406662.1:c.755_763delTTGTGGACT
NM_001406669.1:c.755_763delTTGTGGACT
NM_001406674.1:c.2111_2119delTTGTGGACT
NP_000242.1:p.Ile704_Cys707delinsSer
NP_000242.1:p.Ile704_Cys707delinsSer
NP_001245210.1:p.Ile638_Cys641delinsSer
NP_001393560.1:p.Ile704_Cys707delinsSer
NP_001393561.1:p.Ile704_Cys707delinsSer
NP_001393562.1:p.Ile704_Cys707delinsSer
NP_001393563.1:p.Ile704_Cys707delinsSer
NP_001393564.1:p.Ile704_Cys707delinsSer
NP_001393565.1:p.Ile693_Cys696delinsSer
NP_001393566.1:p.Ile704_Cys707delinsSer
NP_001393567.1:p.Ile717_Cys720delinsSer
NP_001393568.1:p.Ile704_Cys707delinsSer
NP_001393569.1:p.Ile704_Cys707delinsSer
NP_001393570.1:p.Ile704_Cys707delinsSer
NP_001393571.1:p.Ile704_Cys707delinsSer
NP_001393572.1:p.Ile704_Cys707delinsSer
NP_001393573.1:p.Ile704_Cys707delinsSer
NP_001393574.1:p.Ile704_Cys707delinsSer
NP_001393575.1:p.Ile704_Cys707delinsSer
NP_001393576.1:p.Ile654_Cys657delinsSer
NP_001393577.1:p.Ile704_Cys707delinsSer
NP_001393578.1:p.Ile654_Cys657delinsSer
NP_001393579.1:p.Ile654_Cys657delinsSer
NP_001393580.1:p.Ile654_Cys657delinsSer
NP_001393581.1:p.Ile654_Cys657delinsSer
NP_001393582.1:p.Ile684_Cys687delinsSer
NP_001393583.1:p.Ile564_Cys567delinsSer
NP_001393585.1:p.Ile405_Cys408delinsSer
NP_001393587.1:p.Ile252_Cys255delinsSer
NP_001393588.1:p.Ile252_Cys255delinsSer
NP_001393589.1:p.Ile252_Cys255delinsSer
NP_001393590.1:p.Ile252_Cys255delinsSer
NP_001393591.1:p.Ile252_Cys255delinsSer
NP_001393598.1:p.Ile252_Cys255delinsSer
NP_001393603.1:p.Ile704_Cys707delinsSer
LRG_218t1:c.2111_2119del
LRG_218:g.78349_78357del
LRG_218p1:p.Ile704_Cys707delinsSer
NC_000002.11:g.47703611_47703619del
NM_000251.1:c.2111_2119delTTGTGGACT
NM_000251.2:c.2111_2119delTTGTGGACT
NR_176230.1:n.2147_2155delTTGTGGACT
NR_176231.1:n.2147_2155delTTGTGGACT
NR_176232.1:n.2147_2155delTTGTGGACT
NR_176233.1:n.1989_1997delTTGTGGACT
NR_176234.1:n.2147_2155delTTGTGGACT
NR_176235.1:n.2147_2155delTTGTGGACT
NR_176236.1:n.2147_2155delTTGTGGACT
NR_176237.1:n.2147_2155delTTGTGGACT
NR_176238.1:n.2280_2288delTTGTGGACT
NR_176239.1:n.2147_2155delTTGTGGACT
NR_176241.1:n.2147_2155delTTGTGGACT
NR_176242.1:n.2147_2155delTTGTGGACT
NR_176243.1:n.1997_2005delTTGTGGACT
NR_176244.1:n.2147_2155delTTGTGGACT
NR_176245.1:n.2147_2155delTTGTGGACT
NR_176246.1:n.2147_2155delTTGTGGACT
NR_176247.1:n.2147_2155delTTGTGGACT
NR_176248.1:n.2147_2155delTTGTGGACT
NR_176249.1:n.2377_2385delTTGTGGACT
NR_176250.1:n.1887_1895delTTGTGGACT

Molecular consequence:

NM_000251.3:c.2111_2119del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001258281.1:c.1913_1921del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406631.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406632.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406633.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406634.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406635.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406636.1:c.2078_2086delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406637.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406638.1:c.2150_2158delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406639.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406640.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406641.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406642.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406643.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406644.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406645.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406646.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406647.1:c.1961_1969delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406648.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406649.1:c.1961_1969delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406650.1:c.1961_1969delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406651.1:c.1961_1969delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406652.1:c.1961_1969delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406653.1:c.2051_2059delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406654.1:c.1691_1699delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406656.1:c.1214_1222delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406658.1:c.755_763delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406659.1:c.755_763delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406660.1:c.755_763delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406661.1:c.755_763delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406662.1:c.755_763delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406669.1:c.755_763delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406674.1:c.2111_2119delTTGTGGACT - inframe_indel - [Sequence Ontology: SO:0001820]

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

Recent activity

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Homo sapiens zinc finger protein 382 (ZNF382), transcript variant 2, mRNA
Homo sapiens zinc finger protein 382 (ZNF382), transcript variant 2, mRNA
gi|1676318382|ref|NM_001256838.2|

Nucleotide
Homo sapiens cilia and flagella associated protein 298 (CFAP298), transcript var...
Homo sapiens cilia and flagella associated protein 298 (CFAP298), transcript variant 4, mRNA
gi|1677703383|ref|NM_001350336.2|

Nucleotide
zinc finger protein 382 isoform 1 [Homo sapiens]
zinc finger protein 382 isoform 1 [Homo sapiens]
gi|55769570|ref|NP_116214.2|

Protein
Enterococcus phage_EF62phi, complete genome
Enterococcus phage_EF62phi, complete genome
gi|2505998828|gb|CP124959.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002725242	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 2, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002725242

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 2, 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, SCV002725242.2

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

Description

The c.2111_2119delTTGTGGACT variant (also known as p.I704_C707delinsS), located in coding exon 13 of the MSH2 gene, results from an in-frame deletion of TTGTGGACT at nucleotide positions 2111 to 2119. This results in the substitution of isoleucine, valine, aspartic acid, and cysteine residues for a serine residue at codons 704 to 707. Based on internal structural analysis, I704_C707delinsS is not tolerated. This amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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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