NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly) AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Oct 1, 2023
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:: RCV003434313.5

Allele description [Variation Report for NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly)]

NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly)

Genes:

MSH5-SAPCD1:MSH5-SAPCD1 readthrough (NMD candidate) [Gene - HGNC]
MSH5:mutS homolog 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

Preferred name:

NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly)

HGVS:

NC_000006.12:g.31758201C>G
NG_011611.1:g.23205C>G
NM_002441.5:c.1051C>G
NM_025259.6:c.1102C>G
NM_172165.4:c.1051C>G
NM_172166.4:c.1051C>GMANE SELECT
NP_002432.1:p.Arg351Gly
NP_079535.4:p.Arg368Gly
NP_751897.1:p.Arg351Gly
NP_751898.1:p.Arg351Gly
NC_000006.11:g.31725978C>G
NM_025259.5:c.1102C>G
NR_037846.1:n.1230C>G

Protein change:

R351G

Links:

dbSNP: rs28399976

NCBI 1000 Genomes Browser:

rs28399976

Molecular consequence:

NM_002441.5:c.1051C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_025259.6:c.1102C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172165.4:c.1051C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172166.4:c.1051C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_037846.1:n.1230C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004156173	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Oct 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004156173

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Benign
(Oct 1, 2023)

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	10	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004156173.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	10	not provided	not provided	clinical testing	not provided

Description

MSH5: PP3, BS1, BS2

#	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		10	not provided	not provided	not provided

Last Updated: May 19, 2024

ClinVar

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