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NM_007194.4(CHEK2):c.1047G>A (p.Lys349=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 28, 2022
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:
RCV002398322.2

Allele description [Variation Report for NM_007194.4(CHEK2):c.1047G>A (p.Lys349=)]

NM_007194.4(CHEK2):c.1047G>A (p.Lys349=)

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.1047G>A (p.Lys349=)
HGVS:
  • NC_000022.11:g.28696949C>T
  • NG_008150.2:g.49918G>A
  • NM_001005735.2:c.1176G>A
  • NM_001257387.2:c.384G>A
  • NM_001349956.2:c.846G>A
  • NM_007194.4:c.1047G>AMANE SELECT
  • NM_145862.2:c.1009-1076G>A
  • NP_001005735.1:p.Lys392=
  • NP_001244316.1:p.Lys128=
  • NP_001336885.1:p.Lys282=
  • NP_009125.1:p.Lys349=
  • LRG_302t1:c.1047G>A
  • LRG_302:g.49918G>A
  • LRG_302p1:p.Lys349=
  • NC_000022.10:g.29092937C>T
  • NM_007194.3:c.1047G>A
Molecular consequence:
  • NM_145862.2:c.1009-1076G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001005735.2:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001257387.2:c.384G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001349956.2:c.846G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007194.4:c.1047G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002705667Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 28, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002705667.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024