NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 2, 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:: RCV000713476.5

Allele description

NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro)

Gene:

CYP7B1:cytochrome P450 family 7 subfamily B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.3

Genomic location:

Preferred name:

NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro)

HGVS:

NC_000008.11:g.64798532A>G
NG_008338.2:g.5260T>C
NM_001324112.2:c.56T>C
NM_004820.5:c.56T>CMANE SELECT
NP_001311041.1:p.Leu19Pro
NP_004811.1:p.Leu19Pro
NC_000008.10:g.65711089A>G
NM_004820.3:c.56T>C
NM_004820.4:c.56T>C
O75881:p.Leu19Pro

Protein change:

L19P

Links:

UniProtKB: O75881#VAR_075505; dbSNP: rs72554624

NCBI 1000 Genomes Browser:

rs72554624

Molecular consequence:

NM_001324112.2:c.56T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004820.5:c.56T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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MGC16142 [Homo sapiens]
MGC16142 [Homo sapiens]
Gene ID:84849

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000844088	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Jan 2, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 19439420, 26370385, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000844088

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Jan 2, 2018)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Maréchal L, Fontaine B, Guimarães J, Isidor B, Chazouillères O, Wendum D, Grid D, Chevy F, Chinnery PF, Coutinho P, Azulay JP, Feki I, Mochel F, Wolf C, et al.

Brain. 2009 Jun;132(Pt 6):1589-600. doi: 10.1093/brain/awp073. Epub 2009 May 12.

PubMed [citation]

PMID:: 19439420

SPG5 and multiple sclerosis: clinical and genetic overlap?

Criscuolo C, Carbone R, Lieto M, Peluso S, Guacci A, Filla A, Quarantelli M, Lanzillo R, Morra VB, De Michele G.

Acta Neurol Scand. 2016 Jun;133(6):410-4. doi: 10.1111/ane.12476. Epub 2015 Sep 15.

PubMed [citation]

PMID:: 26370385

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV000844088.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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: May 7, 2024

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