U.S. flag

An official website of the United States government

NM_004820.5(CYP7B1):c.178del (p.Val59_Leu60insTer) AND Spastic paraplegia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 17, 2023
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:
RCV003752408.1

Allele description [Variation Report for NM_004820.5(CYP7B1):c.178del (p.Val59_Leu60insTer)]

NM_004820.5(CYP7B1):c.178del (p.Val59_Leu60insTer)

Gene:
CYP7B1:cytochrome P450 family 7 subfamily B member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q12.3
Genomic location:
Preferred name:
NM_004820.5(CYP7B1):c.178del (p.Val59_Leu60insTer)
HGVS:
  • NC_000008.11:g.64624485del
  • NG_008338.2:g.179308del
  • NM_001324112.2:c.178del
  • NM_004820.5:c.178delMANE SELECT
  • NP_001311041.1:p.Val59_Leu60insTer
  • NP_004811.1:p.Val59_Leu60insTer
  • NC_000008.10:g.65537041del
  • NC_000008.10:g.65537042del
Molecular consequence:
  • NM_001324112.2:c.178del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004820.5:c.178del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Spastic paraplegia
Identifiers:
MedGen: C0037772; Human Phenotype Ontology: HP:0001258

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
SCV004458302Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 17, 2023) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.

Setchell KD, Schwarz M, O'Connell NC, Lund EG, Davis DL, Lathe R, Thompson HR, Weslie Tyson R, Sokol RJ, Russell DW.

J Clin Invest. 1998 Nov 1;102(9):1690-703.

PubMed [citation]
PMID:
9802883
PMCID:
PMC509117

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

Criscuolo C, Filla A, Coppola G, Rinaldi C, Carbone R, Pinto S, Wang Q, de Leva MF, Salvatore E, Banfi S, Brunetti A, Quarantelli M, Geschwind DH, Pappatà S, De Michele G.

J Neurol. 2009 Aug;256(8):1252-7. doi: 10.1007/s00415-009-5109-3. Epub 2009 Apr 12.

PubMed [citation]
PMID:
19363635
See all PubMed Citations (7)

Details of each submission

From Invitae, SCV004458302.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CYP7B1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu60*) in the CYP7B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP7B1 are known to be pathogenic (PMID: 9802883, 19363635, 19439420, 21541746, 21567895, 28039895).

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

Last Updated: Feb 28, 2024