NM_007194.4(CHEK2):c.272C>T (p.Ala91Val) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 24, 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:: RCV004041271.1

Allele description [Variation Report for NM_007194.4(CHEK2):c.272C>T (p.Ala91Val)]

NM_007194.4(CHEK2):c.272C>T (p.Ala91Val)

Gene:

CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_007194.4(CHEK2):c.272C>T (p.Ala91Val)

HGVS:

NC_000022.11:g.28734450G>A
NG_008150.2:g.12417C>T
NM_001005735.2:c.272C>T
NM_001257387.2:c.-506C>T
NM_001349956.2:c.272C>T
NM_007194.3:c.272C>T
NM_007194.4:c.272C>TMANE SELECT
NM_145862.2:c.272C>T
NP_001005735.1:p.Ala91Val
NP_001336885.1:p.Ala91Val
NP_009125.1:p.Ala91Val
NP_665861.1:p.Ala91Val
LRG_302t1:c.272C>T
LRG_302:g.12417C>T
LRG_302p1:p.Ala91Val
NC_000022.10:g.29130438G>A

Protein change:

A91V

Links:

dbSNP: rs748559775

NCBI 1000 Genomes Browser:

rs748559775

Molecular consequence:

NM_001257387.2:c.-506C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001005735.2:c.272C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001349956.2:c.272C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007194.4:c.272C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_145862.2:c.272C>T - 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

Recent activity

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SRX7866672 (1)
SRA
SRX7866619 (1)
SRA
Psathyrella gordonii voucher MCVE28710 small subunit ribosomal RNA gene, partial...
Psathyrella gordonii voucher MCVE28710 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|1339983897|gb|MF325973.1|

Nucleotide
Helminthiasis, Animal
Helminthiasis, Animal
Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary.<br/>Year introduced: 1998

MeSH
Circoviridae Infections
Circoviridae Infections
Virus diseases caused by the CIRCOVIRIDAE.<br/>Year introduced: 1994

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005025103	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 24, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005025103

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 24, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV005025103.1

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

Description

The p.A91V variant (also known as c.272C>T), located in coding exon 1 of the CHEK2 gene, results from a C to T substitution at nucleotide position 272. The alanine at codon 91 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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: Sep 29, 2024

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