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NM_007194.4(CHEK2):c.317T>C (p.Leu106Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 30, 2015
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:
RCV002319927.2

Allele description [Variation Report for NM_007194.4(CHEK2):c.317T>C (p.Leu106Pro)]

NM_007194.4(CHEK2):c.317T>C (p.Leu106Pro)

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.317T>C (p.Leu106Pro)
HGVS:
  • NC_000022.11:g.28734405A>G
  • NG_008150.2:g.12462T>C
  • NM_001005735.2:c.317T>C
  • NM_001257387.2:c.-461T>C
  • NM_001349956.2:c.317T>C
  • NM_007194.4:c.317T>CMANE SELECT
  • NM_145862.2:c.317T>C
  • NP_001005735.1:p.Leu106Pro
  • NP_001336885.1:p.Leu106Pro
  • NP_009125.1:p.Leu106Pro
  • NP_665861.1:p.Leu106Pro
  • LRG_302t1:c.317T>C
  • LRG_302:g.12462T>C
  • LRG_302p1:p.Leu106Pro
  • NC_000022.10:g.29130393A>G
  • NG_008150.1:g.12430T>C
  • NM_007194.3:c.317T>C
Protein change:
L106P
Links:
dbSNP: rs1601850987
NCBI 1000 Genomes Browser:
rs1601850987
Molecular consequence:
  • NM_001257387.2:c.-461T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001005735.2:c.317T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349956.2:c.317T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007194.4:c.317T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145862.2:c.317T>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002610207Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 30, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002610207.2

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

Description

The p.L106P variant (also known as c.317T>C), located in coding exon 1 of the CHEK2 gene, results from a T to C substitution at nucleotide position 317. The leucine at codon 106 is replaced by proline, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 130000 alleles tested) in our clinical cohort. This amino acid position is 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 p.L106P remains unclear.

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

Last Updated: Sep 29, 2024