NM_000251.3(MSH2):c.210_211delinsCC (p.Gly71Arg) AND Hereditary nonpolyposis colorectal neoplasms

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 10, 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:: RCV003017672.3

Allele description [Variation Report for NM_000251.3(MSH2):c.210_211delinsCC (p.Gly71Arg)]

NM_000251.3(MSH2):c.210_211delinsCC (p.Gly71Arg)

Gene:

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

Variant type:

Indel

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.210_211delinsCC (p.Gly71Arg)

HGVS:

NC_000002.12:g.47403401_47403402delinsCC
NG_007110.2:g.5278_5279delinsCC
NG_095167.1:g.605_606delinsCC
NM_000251.3:c.210_211delinsCCMANE SELECT
NM_001258281.1:c.12_13delinsCC
NM_001406631.1:c.210_211delAGinsCC
NM_001406632.1:c.210_211delAGinsCC
NM_001406633.1:c.210_211delAGinsCC
NM_001406634.1:c.210_211delAGinsCC
NM_001406635.1:c.210_211delAGinsCC
NM_001406636.1:c.210_211delAGinsCC
NM_001406637.1:c.210_211delAGinsCC
NM_001406638.1:c.210_211delAGinsCC
NM_001406639.1:c.210_211delAGinsCC
NM_001406640.1:c.210_211delAGinsCC
NM_001406641.1:c.210_211delAGinsCC
NM_001406642.1:c.210_211delAGinsCC
NM_001406643.1:c.210_211delAGinsCC
NM_001406644.1:c.210_211delAGinsCC
NM_001406645.1:c.210_211delAGinsCC
NM_001406646.1:c.210_211delAGinsCC
NM_001406647.1:c.210_211delAGinsCC
NM_001406648.1:c.210_211delAGinsCC
NM_001406649.1:c.210_211delAGinsCC
NM_001406650.1:c.210_211delAGinsCC
NM_001406651.1:c.210_211delAGinsCC
NM_001406652.1:c.210_211delAGinsCC
NM_001406653.1:c.210_211delAGinsCC
NM_001406654.1:c.-131_-130delAGinsCC
NM_001406655.1:c.210_211delAGinsCC
NM_001406656.1:c.-786_-785delAGinsCC
NM_001406657.1:c.210_211delAGinsCC
NM_001406658.1:c.-1109_-1108delAGinsCC
NM_001406659.1:c.-1259_-1258delAGinsCC
NM_001406660.1:c.-1456_-1455delAGinsCC
NM_001406661.1:c.-1411_-1410delAGinsCC
NM_001406662.1:c.-1328_-1327delAGinsCC
NM_001406666.1:c.210_211delAGinsCC
NM_001406669.1:c.-1259_-1258delAGinsCC
NM_001406672.1:c.210_211delAGinsCC
NM_001406674.1:c.210_211delAGinsCC
NP_000242.1:p.Gly71Arg
NP_000242.1:p.Gly71Arg
NP_001245210.1:p.Gly5Arg
NP_001393560.1:p.Gly71Arg
NP_001393561.1:p.Gly71Arg
NP_001393562.1:p.Gly71Arg
NP_001393563.1:p.Gly71Arg
NP_001393564.1:p.Gly71Arg
NP_001393565.1:p.Gly71Arg
NP_001393566.1:p.Gly71Arg
NP_001393567.1:p.Gly71Arg
NP_001393568.1:p.Gly71Arg
NP_001393569.1:p.Gly71Arg
NP_001393570.1:p.Gly71Arg
NP_001393571.1:p.Gly71Arg
NP_001393572.1:p.Gly71Arg
NP_001393573.1:p.Gly71Arg
NP_001393574.1:p.Gly71Arg
NP_001393575.1:p.Gly71Arg
NP_001393576.1:p.Gly71Arg
NP_001393577.1:p.Gly71Arg
NP_001393578.1:p.Gly71Arg
NP_001393579.1:p.Gly71Arg
NP_001393580.1:p.Gly71Arg
NP_001393581.1:p.Gly71Arg
NP_001393582.1:p.Asp71His
NP_001393584.1:p.Gly71Arg
NP_001393586.1:p.Gly71Arg
NP_001393595.1:p.Gly71Arg
NP_001393601.1:p.Gly71Arg
NP_001393603.1:p.Gly71Arg
LRG_218t1:c.210_211delAGinsCC
LRG_218:g.5278_5279delinsCC
LRG_218p1:p.Gly71Arg
NC_000002.11:g.47630540_47630541delinsCC
NM_000251.2:c.210_211delAGinsCC
NR_176230.1:n.246_247delAGinsCC
NR_176231.1:n.246_247delAGinsCC
NR_176232.1:n.246_247delAGinsCC
NR_176233.1:n.246_247delAGinsCC
NR_176234.1:n.246_247delAGinsCC
NR_176235.1:n.246_247delAGinsCC
NR_176236.1:n.246_247delAGinsCC
NR_176237.1:n.246_247delAGinsCC
NR_176238.1:n.246_247delAGinsCC
NR_176239.1:n.246_247delAGinsCC
NR_176240.1:n.246_247delAGinsCC
NR_176241.1:n.246_247delAGinsCC
NR_176242.1:n.246_247delAGinsCC
NR_176243.1:n.246_247delAGinsCC
NR_176244.1:n.246_247delAGinsCC
NR_176245.1:n.246_247delAGinsCC
NR_176246.1:n.246_247delAGinsCC
NR_176247.1:n.246_247delAGinsCC
NR_176248.1:n.246_247delAGinsCC
NR_176249.1:n.246_247delAGinsCC
NR_176250.1:n.246_247delAGinsCC

Protein change:

D71H

Molecular consequence:

NM_000251.3:c.210_211delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001258281.1:c.12_13delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406631.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406632.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406633.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406634.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406635.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406636.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406637.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406638.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406639.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406640.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406641.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406642.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406643.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406644.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406645.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406646.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406647.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406648.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406649.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406650.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406651.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406652.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406653.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406655.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406657.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406666.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406672.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406674.1:c.210_211delAGinsCC - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary nonpolyposis colorectal neoplasms
Identifiers:: MeSH: D003123; MedGen: C0009405

Recent activity

Clear Turn Off Turn On

NP_312706 (0)
OMIM
conserved hypothetical protein [Leishmania braziliensis MHOM/BR/75/M2904]
conserved hypothetical protein [Leishmania braziliensis MHOM/BR/75/M2904]
gi|322505317|emb|CAM40065.2|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003328731	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 10, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17576681, 9536098, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003328731

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 10, 2022)

germline

clinical testing

PubMed (3)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.

Nucleic Acids Res. 2007;35(13):4250-63. Epub 2007 Jun 18.

PubMed [citation]

PMID:: 17576681
PMCID:: PMC1934990

Statistical features of human exons and their flanking regions.

Zhang MQ.

Hum Mol Genet. 1998 May;7(5):919-32.

PubMed [citation]

PMID:: 9536098

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003328731.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 71 of the MSH2 protein (p.Gly71Arg). This variant also falls at the last nucleotide of exon 1, which is part of the consensus splice site for this exon.

#	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

ClinVar

Relating variation to medicine