NM_000251.3(MSH2):c.901A>C (p.Lys301Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 12, 2019
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:: RCV002376412.2

Allele description [Variation Report for NM_000251.3(MSH2):c.901A>C (p.Lys301Gln)]

NM_000251.3(MSH2):c.901A>C (p.Lys301Gln)

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.901A>C (p.Lys301Gln)

HGVS:

NC_000002.12:g.47414377A>C
NG_007110.2:g.16254A>C
NM_000251.3:c.901A>CMANE SELECT
NM_001258281.1:c.703A>C
NM_001406631.1:c.901A>C
NM_001406632.1:c.901A>C
NM_001406633.1:c.901A>C
NM_001406634.1:c.901A>C
NM_001406635.1:c.901A>C
NM_001406636.1:c.868A>C
NM_001406637.1:c.901A>C
NM_001406638.1:c.901A>C
NM_001406639.1:c.901A>C
NM_001406640.1:c.901A>C
NM_001406641.1:c.901A>C
NM_001406642.1:c.901A>C
NM_001406643.1:c.901A>C
NM_001406644.1:c.901A>C
NM_001406645.1:c.901A>C
NM_001406646.1:c.901A>C
NM_001406648.1:c.901A>C
NM_001406653.1:c.841A>C
NM_001406654.1:c.481A>C
NM_001406655.1:c.901A>C
NM_001406656.1:c.4A>C
NM_001406657.1:c.901A>C
NM_001406659.1:c.-568A>C
NM_001406660.1:c.-765A>C
NM_001406661.1:c.-720A>C
NM_001406662.1:c.-637A>C
NM_001406666.1:c.901A>C
NM_001406669.1:c.-568A>C
NM_001406674.1:c.901A>C
NP_000242.1:p.Lys301Gln
NP_000242.1:p.Lys301Gln
NP_001245210.1:p.Lys235Gln
NP_001393560.1:p.Lys301Gln
NP_001393561.1:p.Lys301Gln
NP_001393562.1:p.Lys301Gln
NP_001393563.1:p.Lys301Gln
NP_001393564.1:p.Lys301Gln
NP_001393565.1:p.Lys290Gln
NP_001393566.1:p.Lys301Gln
NP_001393567.1:p.Lys301Gln
NP_001393568.1:p.Lys301Gln
NP_001393569.1:p.Lys301Gln
NP_001393570.1:p.Lys301Gln
NP_001393571.1:p.Lys301Gln
NP_001393572.1:p.Lys301Gln
NP_001393573.1:p.Lys301Gln
NP_001393574.1:p.Lys301Gln
NP_001393575.1:p.Lys301Gln
NP_001393577.1:p.Lys301Gln
NP_001393582.1:p.Lys281Gln
NP_001393583.1:p.Lys161Gln
NP_001393584.1:p.Lys301Gln
NP_001393585.1:p.Lys2Gln
NP_001393586.1:p.Lys301Gln
NP_001393595.1:p.Lys301Gln
NP_001393603.1:p.Lys301Gln
LRG_218t1:c.901A>C
LRG_218:g.16254A>C
LRG_218p1:p.Lys301Gln
NC_000002.11:g.47641516A>C
NM_000251.1:c.901A>C
NM_000251.2:c.901A>C
NR_176230.1:n.937A>C
NR_176231.1:n.937A>C
NR_176232.1:n.937A>C
NR_176234.1:n.937A>C
NR_176235.1:n.937A>C
NR_176236.1:n.937A>C
NR_176237.1:n.937A>C
NR_176238.1:n.937A>C
NR_176239.1:n.937A>C
NR_176240.1:n.937A>C
NR_176241.1:n.937A>C
NR_176242.1:n.937A>C
NR_176244.1:n.937A>C
NR_176245.1:n.937A>C
NR_176246.1:n.937A>C
NR_176247.1:n.937A>C
NR_176248.1:n.937A>C
NR_176249.1:n.937A>C

Protein change:

K161Q

Molecular consequence:

NM_000251.3:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001258281.1:c.703A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406631.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406632.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406633.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406634.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406635.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406636.1:c.868A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406637.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406638.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406639.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406640.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406641.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406642.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406643.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406644.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406645.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406646.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406648.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406653.1:c.841A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406654.1:c.481A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406655.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406656.1:c.4A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406657.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406666.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406674.1:c.901A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Rattus norvegicus Cd48 molecule (Cd48), mRNA
Rattus norvegicus Cd48 molecule (Cd48), mRNA
gi|20806146|ref|NM_139103.1|

Nucleotide
prostaglandin E synthase 2, isoform CRA_a [Homo sapiens]
prostaglandin E synthase 2, isoform CRA_a [Homo sapiens]
gi|119608147|gb|EAW87741.1||gnl|WGS |hCP1752436

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002686594	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 12, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002686594

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 12, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002686594.2

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

Description

The p.K301Q variant (also known as c.901A>C), located in coding exon 5 of the MSH2 gene, results from an A to C substitution at nucleotide position 901. The lysine at codon 301 is replaced by glutamine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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