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NM_001334.3(CTSO):c.490T>C (p.Ser164Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2022
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:
RCV004132330.1

Allele description [Variation Report for NM_001334.3(CTSO):c.490T>C (p.Ser164Pro)]

NM_001334.3(CTSO):c.490T>C (p.Ser164Pro)

Gene:
CTSO:cathepsin O [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_001334.3(CTSO):c.490T>C (p.Ser164Pro)
HGVS:
  • NC_000004.12:g.155939433A>G
  • NM_001334.3:c.490T>CMANE SELECT
  • NP_001325.1:p.Ser164Pro
  • NC_000004.11:g.156860585A>G
  • NM_001334.2:c.490T>C
Protein change:
S164P
Molecular consequence:
  • NM_001334.3:c.490T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003606596Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 12, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003606596.2

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

Description

The c.490T>C (p.S164P) alteration is located in exon 4 (coding exon 4) of the CTSO gene. This alteration results from a T to C substitution at nucleotide position 490, causing the serine (S) at amino acid position 164 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024