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NM_000396.4(CTSK):c.905G>A (p.Trp302Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
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:
RCV001002750.2

Allele description [Variation Report for NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)]

NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)

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.905G>A (p.Trp302Ter)
HGVS:
  • NC_000001.11:g.150796884C>T
  • NG_011848.1:g.16453G>A
  • NM_000396.4:c.905G>AMANE SELECT
  • NP_000387.1:p.Trp302Ter
  • NC_000001.10:g.150769360C>T
  • NC_000001.10:g.150769360C>T
  • NM_000396.3:c.905G>A
  • p.(Trp302*)
  • p.Trp302*
Protein change:
W302*
Links:
dbSNP: rs1571122183
NCBI 1000 Genomes Browser:
rs1571122183
Molecular consequence:
  • NM_000396.4:c.905G>A - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
Uncertain function
Observations:
1

Condition(s)

Name:
Skeletal dysplasia
Synonyms:
Primary bone dysplasia
Identifiers:
MONDO: MONDO:0018230; MedGen: C0410528; Human Phenotype Ontology: HP:0002652
Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Name:
Short phalanx of finger
Identifiers:
MedGen: C0877165; Human Phenotype Ontology: HP:0009803
Name:
Scoliosis
Identifiers:
MONDO: MONDO:0005392; MedGen: C0036439; Human Phenotype Ontology: HP:0002650
Name:
Macrocephaly
Synonyms:
Macrocephalus; large head
Identifiers:
MedGen: C2243051; Human Phenotype Ontology: HP:0000256
Name:
Delayed cranial suture closure
Identifiers:
MedGen: C0277828; Human Phenotype Ontology: HP:0000270
Name:
Nail dysplasia
Identifiers:
MedGen: C1834405; Human Phenotype Ontology: HP:0002164
Name:
Increased susceptibility to fractures
Synonyms:
Bone fragility
Identifiers:
MedGen: C1390474; Human Phenotype Ontology: HP:0002659

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000965583Human Genetics Department, Tarbiat Modares University
no assertion criteria provided
Pathogenicinheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Human Genetics Department, Tarbiat Modares University, SCV000965583.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024