U.S. flag

An official website of the United States government

NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) AND Li-Fraumeni syndrome 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 21, 2018
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:
RCV001292666.3

Allele description [Variation Report for NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)]

NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)

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.1053G>T (p.Glu351Asp)
HGVS:
  • NC_000022.11:g.28696943C>A
  • NG_008150.2:g.49924G>T
  • NM_001005735.2:c.1182G>T
  • NM_001257387.2:c.390G>T
  • NM_001349956.2:c.852G>T
  • NM_007194.4:c.1053G>TMANE SELECT
  • NM_145862.2:c.1009-1070G>T
  • NP_001005735.1:p.Glu394Asp
  • NP_001244316.1:p.Glu130Asp
  • NP_001336885.1:p.Glu284Asp
  • NP_009125.1:p.Glu351Asp
  • LRG_302t1:c.1053G>T
  • LRG_302:g.49924G>T
  • LRG_302p1:p.Glu351Asp
  • NC_000022.10:g.29092931C>A
  • NG_008150.1:g.49892G>T
  • NM_007194.3:c.1053G>T
  • p.E351D
Protein change:
E130D
Links:
dbSNP: rs587782268
NCBI 1000 Genomes Browser:
rs587782268
Molecular consequence:
  • NM_145862.2:c.1009-1070G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001005735.2:c.1182G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257387.2:c.390G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349956.2:c.852G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007194.4:c.1053G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Li-Fraumeni syndrome 2 (TPDS4)
Synonyms:
TUMOR PREDISPOSITION SYNDROME 4; CANCER PREDISPOSITION SYNDROME, CHEK2-RELATED
Identifiers:
MedGen: C5882668; Orphanet: 524; OMIM: 609265

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001481270Baylor Genetics - CSER-TexasKidsCanSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Dec 21, 2018)
maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV001481270.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Oct 26, 2024