NM_000251.3(MSH2):c.680dup (p.Ala230fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 26, 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:: RCV003322025.2

Allele description [Variation Report for NM_000251.3(MSH2):c.680dup (p.Ala230fs)]

NM_000251.3(MSH2):c.680dup (p.Ala230fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.680dup (p.Ala230fs)

HGVS:

NC_000002.12:g.47412448dup
NG_007110.2:g.14325dup
NM_000251.3:c.680dupMANE SELECT
NM_001258281.1:c.482dup
NM_001406631.1:c.680dup
NM_001406632.1:c.680dup
NM_001406633.1:c.680dup
NM_001406634.1:c.680dup
NM_001406635.1:c.680dup
NM_001406636.1:c.680dup
NM_001406637.1:c.680dup
NM_001406638.1:c.680dup
NM_001406639.1:c.680dup
NM_001406640.1:c.680dup
NM_001406641.1:c.680dup
NM_001406642.1:c.680dup
NM_001406643.1:c.680dup
NM_001406644.1:c.680dup
NM_001406645.1:c.680dup
NM_001406646.1:c.680dup
NM_001406647.1:c.680dup
NM_001406648.1:c.680dup
NM_001406649.1:c.680dup
NM_001406650.1:c.680dup
NM_001406651.1:c.680dup
NM_001406652.1:c.680dup
NM_001406653.1:c.620dup
NM_001406654.1:c.260dup
NM_001406655.1:c.680dup
NM_001406656.1:c.-316dup
NM_001406657.1:c.680dup
NM_001406658.1:c.-639dup
NM_001406659.1:c.-789dup
NM_001406660.1:c.-986dup
NM_001406661.1:c.-941dup
NM_001406662.1:c.-858dup
NM_001406666.1:c.680dup
NM_001406669.1:c.-789dup
NM_001406672.1:c.680dup
NM_001406674.1:c.680dup
NP_000242.1:p.Ala230Serfs
NP_000242.1:p.Ala230fs
NP_001245210.1:p.Ala164fs
NP_001393560.1:p.Ala230fs
NP_001393561.1:p.Ala230fs
NP_001393562.1:p.Ala230fs
NP_001393563.1:p.Ala230fs
NP_001393564.1:p.Ala230fs
NP_001393565.1:p.Ala230fs
NP_001393566.1:p.Ala230fs
NP_001393567.1:p.Ala230fs
NP_001393568.1:p.Ala230fs
NP_001393569.1:p.Ala230fs
NP_001393570.1:p.Ala230fs
NP_001393571.1:p.Ala230fs
NP_001393572.1:p.Ala230fs
NP_001393573.1:p.Ala230fs
NP_001393574.1:p.Ala230fs
NP_001393575.1:p.Ala230fs
NP_001393576.1:p.Ala230fs
NP_001393577.1:p.Ala230fs
NP_001393578.1:p.Ala230fs
NP_001393579.1:p.Ala230fs
NP_001393580.1:p.Ala230fs
NP_001393581.1:p.Ala230fs
NP_001393582.1:p.Ala210fs
NP_001393583.1:p.Ala90fs
NP_001393584.1:p.Ala230fs
NP_001393586.1:p.Ala230fs
NP_001393595.1:p.Ala230fs
NP_001393601.1:p.Ala230fs
NP_001393603.1:p.Ala230fs
LRG_218t1:c.680dup
LRG_218:g.14325dup
LRG_218p1:p.Ala230Serfs
NC_000002.11:g.47639587dup
NM_000251.2:c.680dup
NR_176230.1:n.716dup
NR_176231.1:n.716dup
NR_176232.1:n.716dup
NR_176233.1:n.708dup
NR_176234.1:n.716dup
NR_176235.1:n.716dup
NR_176236.1:n.716dup
NR_176237.1:n.716dup
NR_176238.1:n.716dup
NR_176239.1:n.716dup
NR_176240.1:n.716dup
NR_176241.1:n.716dup
NR_176242.1:n.716dup
NR_176243.1:n.716dup
NR_176244.1:n.716dup
NR_176245.1:n.716dup
NR_176246.1:n.716dup
NR_176247.1:n.716dup
NR_176248.1:n.716dup
NR_176249.1:n.716dup
NR_176250.1:n.716dup

Protein change:

A164fs

Molecular consequence:

NM_001406656.1:c.-316dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406658.1:c.-639dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406659.1:c.-789dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406660.1:c.-986dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406661.1:c.-941dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406662.1:c.-858dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406669.1:c.-789dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000251.3:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.482dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.620dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406654.1:c.260dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406655.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406657.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406666.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406672.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_176230.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176231.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176232.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176233.1:n.708dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176234.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176235.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176236.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176237.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176238.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176239.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176240.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176241.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176242.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176243.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176244.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176245.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176246.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176247.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176248.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176249.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176250.1:n.716dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004026016	Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 26, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004026016

Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 26, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV004026016.1

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

Description

PVS1, PM2_SUP

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 26, 2023

ClinVar

Relating variation to medicine