NM_000396.4(CTSK):c.816T>A (p.Asp272Glu) AND Pyknodysostosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 24, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001272783.1

Allele description [Variation Report for NM_000396.4(CTSK):c.816T>A (p.Asp272Glu)]

NM_000396.4(CTSK):c.816T>A (p.Asp272Glu)

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.816T>A (p.Asp272Glu)

HGVS:

NC_000001.11:g.150799242A>T
NG_011848.1:g.14095T>A
NM_000396.4:c.816T>AMANE SELECT
NP_000387.1:p.Asp272Glu
NC_000001.10:g.150771718A>T
NM_000396.3:c.816T>A

Protein change:

D272E

Links:

dbSNP: rs190892496

NCBI 1000 Genomes Browser:

rs190892496

Molecular consequence:

NM_000396.4:c.816T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001455142	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jan 24, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001455142

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jan 24, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001455142.1

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

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

Last Updated: Sep 29, 2024

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