NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) AND CARASIL syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 23, 2009
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:: RCV000007917.16

Allele description [Variation Report for NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter)]

NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter)

Gene:

HTRA1:HtrA serine peptidase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

Preferred name:

NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter)

HGVS:

NC_000010.11:g.122506817C>T
NG_011554.1:g.50293C>T
NM_002775.5:c.904C>TMANE SELECT
NP_002766.1:p.Arg302Ter
NP_002766.1:p.Arg302Ter
NC_000010.10:g.124266333C>T
NM_002775.4:c.904C>T

Protein change:

R302*; ARG302TER

Links:

OMIM: 602194.0003; dbSNP: rs113993970

NCBI 1000 Genomes Browser:

rs113993970

Molecular consequence:

NM_002775.5:c.904C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: CARASIL syndrome
Synonyms:: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CARASIL; Maeda syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010829; MedGen: C1838577; Orphanet: 199354; OMIM: 600142

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028122	OMIM	no assertion criteria provided	Pathogenic (Apr 23, 2009)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000040935	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028122

OMIM

no assertion criteria provided

Pathogenic
(Apr 23, 2009)

germline

literature only

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

SCV000040935

GeneReviews

no classification provided

not provided

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

Hara K, Shiga A, Fukutake T, Nozaki H, Miyashita A, Yokoseki A, Kawata H, Koyama A, Arima K, Takahashi T, Ikeda M, Shiota H, Tamura M, Shimoe Y, Hirayama M, Arisato T, Yanagawa S, Tanaka A, Nakano I, Ikeda S, Yoshida Y, Yamamoto T, et al.

N Engl J Med. 2009 Apr 23;360(17):1729-39. doi: 10.1056/NEJMoa0801560.

PubMed [citation]

PMID:: 19387015

Details of each submission

From OMIM, SCV000028122.4

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

Description

In affected members of 2 unrelated Japanese families with autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL; 600142), Hara et al. (2009) identified a homozygous 904C-T transition in the HTRA1 gene, resulting in an arg302-to-ter (R302X) substitution. Both families were consanguineous. In vitro functional expression studies showed that the R302X mutant had 21 to 50% normal protease activity and was unable to repress TGF-beta activity.

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

From GeneReviews, SCV000040935.3

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

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

Last Updated: Nov 24, 2024

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