NM_183075.3(CYP2U1):c.1168C>T (p.Arg390Ter) AND Hereditary spastic paraplegia 56

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 21, 2022
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:: RCV000681665.2

Allele description [Variation Report for NM_183075.3(CYP2U1):c.1168C>T (p.Arg390Ter)]

NM_183075.3(CYP2U1):c.1168C>T (p.Arg390Ter)

Gene:

CYP2U1:cytochrome P450 family 2 subfamily U member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q25

Genomic location:

Preferred name:

NM_183075.3(CYP2U1):c.1168C>T (p.Arg390Ter)

Other names:

p.Arg390Ter

HGVS:

NC_000004.12:g.107947417C>T
NG_007961.1:g.20857C>T
NM_183075.3:c.1168C>TMANE SELECT
NP_898898.1:p.Arg390Ter
NC_000004.11:g.108868573C>T
NM_183075.2:c.1168C>T

Protein change:

R390*

Links:

dbSNP: rs772400670

NCBI 1000 Genomes Browser:

rs772400670

Molecular consequence:

NM_183075.3:c.1168C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary spastic paraplegia 56
Synonyms:: Spastic paraplegia 56, autosomal recessive; SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM; Spastic Paraplegia 56
Identifiers:: MONDO: MONDO:0014015; MedGen: C3539507; Orphanet: 320411; OMIM: 615030

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000809044	IRCCS Fondazione Stella Maris, University of Pisa	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic	unknown	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 26914923
SCV002500969	Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	no assertion criteria provided	Pathogenic (Apr 21, 2022)	biparental	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000809044

IRCCS Fondazione Stella Maris, University of Pisa

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic

unknown

research

PubMed (2)
[See all records that cite these PMIDs]

SCV002500969

Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

no assertion criteria provided

Pathogenic
(Apr 21, 2022)

biparental

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	biparental	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family.

Leonardi L, Ziccardi L, Marcotulli C, Rubegni A, Longobardi A, Serrao M, Storti E, Pierelli F, Tessa A, Parisi V, Santorelli FM, Carlo C.

J Neurol. 2016 Apr;263(4):781-3. doi: 10.1007/s00415-016-8066-7. Epub 2016 Feb 25.

PubMed [citation]

PMID:: 26914923

See all PubMed Citations (3)

Details of each submission

From IRCCS Fondazione Stella Maris, University of Pisa, SCV000809044.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana, SCV002500969.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	research	PubMed (1)

Description

MACULAR DISEASE

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	biparental	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 19, 2024

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