U.S. flag

An official website of the United States government

NM_003793.4(CTSF):c.1350del (p.Asn451fs) AND Neuronal ceroid lipofuscinosis 13

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 8, 2018
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:
RCV000704629.6

Allele description [Variation Report for NM_003793.4(CTSF):c.1350del (p.Asn451fs)]

NM_003793.4(CTSF):c.1350del (p.Asn451fs)

Gene:
CTSF:cathepsin F [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_003793.4(CTSF):c.1350del (p.Asn451fs)
HGVS:
  • NC_000011.10:g.66564118del
  • NG_013304.2:g.22199del
  • NG_032973.1:g.9459del
  • NM_003793.4:c.1350delMANE SELECT
  • NP_003784.2:p.Asn451fs
  • NC_000011.9:g.66331589del
  • NM_003793.3:c.1350delG
Protein change:
N451fs
Links:
dbSNP: rs1565311637
NCBI 1000 Genomes Browser:
rs1565311637
Molecular consequence:
  • NM_003793.4:c.1350del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 13
Synonyms:
CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)
Identifiers:
MONDO: MONDO:0014147; MedGen: C3715049; Orphanet: 352709; Orphanet: 79262; OMIM: 615362

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000833585Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Feb 8, 2018) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000833585.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change results in a premature translational stop signal in the CTSF gene (p.Asn451Thrfs*24). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 34 amino acids of the CTSF protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CTSF-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown.

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

Last Updated: Feb 20, 2024