NM_000396.4(CTSK):c.934C>T (p.Arg312Ter) AND Pyknodysostosis

Germline classification:: Pathogenic/Likely pathogenic (4 submissions)
Last evaluated:: Mar 24, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000410122.5

Allele description [Variation Report for NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)]

NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)

Gene:

CTSK:cathepsin K [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

Preferred name:

NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)

HGVS:

NC_000001.11:g.150796855G>A
NG_011848.1:g.16482C>T
NM_000396.4:c.934C>TMANE SELECT
NP_000387.1:p.Arg312Ter
NC_000001.10:g.150769331G>A
NM_000396.3:c.934C>T

Protein change:

R312*

Links:

dbSNP: rs375958814

NCBI 1000 Genomes Browser:

rs375958814

Molecular consequence:

NM_000396.4:c.934C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Pyknodysostosis
Synonyms:: Pycnodysostosis
Identifiers:: MONDO: MONDO:0009940; MedGen: C0238402; Orphanet: 763; OMIM: 265800

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487003	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Sep 22, 2016)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11181082, 24767306 mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf, Citation Link,
SCV002811002	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 13, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004049710	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005058616	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 24, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations of the C-terminal end of cathepsin K affect proenzyme secretion and intracellular maturation.

Claveau D, Riendeau D.

Biochem Biophys Res Commun. 2001 Feb 23;281(2):551-7.

PubMed [citation]

PMID:: 11181082

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.

Arman A, Bereket A, Coker A, Kiper PÖ, Güran T, Ozkan B, Atay Z, Akçay T, Haliloglu B, Boduroglu K, Alanay Y, Turan S.

Orphanet J Rare Dis. 2014 Apr 26;9:60. doi: 10.1186/1750-1172-9-60.

PubMed [citation]

PMID:: 24767306
PMCID:: PMC4022088

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000487003.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002811002.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV004049710.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV005058616.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine