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NM_007194.4(CHEK2):c.985dup (p.Tyr329fs) AND Familial cancer of breast

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 27, 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:
RCV003337066.2

Allele description [Variation Report for NM_007194.4(CHEK2):c.985dup (p.Tyr329fs)]

NM_007194.4(CHEK2):c.985dup (p.Tyr329fs)

Gene:
CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_007194.4(CHEK2):c.985dup (p.Tyr329fs)
HGVS:
  • NC_000022.11:g.28699865dup
  • NG_008150.2:g.47006dup
  • NM_001005735.2:c.1114dup
  • NM_001257387.2:c.322dup
  • NM_001349956.2:c.784dup
  • NM_007194.4:c.985dupMANE SELECT
  • NM_145862.2:c.985dup
  • NP_001005735.1:p.Tyr372fs
  • NP_001244316.1:p.Tyr108fs
  • NP_001336885.1:p.Tyr262fs
  • NP_009125.1:p.Tyr329fs
  • NP_665861.1:p.Tyr329fs
  • LRG_302t1:c.985dup
  • LRG_302:g.47006dup
  • LRG_302p1:p.Tyr329fs
  • NC_000022.10:g.29095853dup
Protein change:
Y108fs
Molecular consequence:
  • NM_001005735.2:c.1114dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257387.2:c.322dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349956.2:c.784dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007194.4:c.985dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_145862.2:c.985dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004044580Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jun 27, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004044580.2

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Sep 8, 2024