NM_000251.3(MSH2):c.146A>T (p.Asp49Val) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 6, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000160615.19

Allele description [Variation Report for NM_000251.3(MSH2):c.146A>T (p.Asp49Val)]

NM_000251.3(MSH2):c.146A>T (p.Asp49Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.146A>T (p.Asp49Val)

Other names:

p.D49V:GAC>GTC

HGVS:

NC_000002.12:g.47403337A>T
NG_007110.2:g.5214A>T
NM_000251.3:c.146A>TMANE SELECT
NM_001258281.1:c.-30-23A>T
NP_000242.1:p.Asp49Val
NP_000242.1:p.Asp49Val
LRG_218t1:c.146A>T
LRG_218:g.5214A>T
LRG_218p1:p.Asp49Val
NC_000002.11:g.47630476A>T
NM_000251.1:c.146A>T
NM_000251.2:c.146A>T

Protein change:

D49V

Links:

dbSNP: rs63750335

NCBI 1000 Genomes Browser:

rs63750335

Molecular consequence:

NM_001258281.1:c.-30-23A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000251.3:c.146A>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000211212	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 6, 2023)	germline	clinical testing	Citation Link,
SCV002585787	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Aug 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000211212

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 6, 2023)

germline

clinical testing

Citation Link,

SCV002585787

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Aug 1, 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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000211212.12

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional study demonstrates loss of function in yeast-based mutator assay (Martinez and Kolodner, 2010); Observed in an individual with colorectal cancer (Papp et al., 2007); This variant is associated with the following publications: (PMID: 22290698, 26333163, 18822302, 21120944, 20176959, 17569143)

#	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		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV002585787.15

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

Description

MSH2: PS3:Supporting, BP1

#	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: Oct 20, 2024

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