NM_000251.3(MSH2):c.680_683del (p.Arg227fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 24, 2020
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:: RCV001269751.2

Allele description [Variation Report for NM_000251.3(MSH2):c.680_683del (p.Arg227fs)]

NM_000251.3(MSH2):c.680_683del (p.Arg227fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.680_683del (p.Arg227fs)

HGVS:

NC_000002.12:g.47412444GAAA[1]
NG_007110.2:g.14321GAAA[1]
NM_000251.3:c.680_683delMANE SELECT
NM_001258281.1:c.482_485del
NP_000242.1:p.Arg227fs
NP_001245210.1:p.Arg161fs
LRG_218:g.14321GAAA[1]
NC_000002.11:g.47639582_47639585del
NC_000002.11:g.47639583GAAA[1]
NM_000251.1:c.680_683delGAAA
NM_000251.2:c.680_683delGAAA
p.R227Kfs*18

Protein change:

R161fs

Links:

dbSNP: rs587782537

NCBI 1000 Genomes Browser:

rs587782537

Molecular consequence:

NM_000251.3:c.680_683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.482_485del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001449988	Clinical Genetics and Genomics, Karolinska University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 24, 2020)	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

SCV001449988

Clinical Genetics and Genomics, Karolinska University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 24, 2020)

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	yes	1	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 Clinical Genetics and Genomics, Karolinska University Hospital, SCV001449988.1

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

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

Last Updated: Sep 29, 2024

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