U.S. flag

An official website of the United States government

NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter) AND CARASIL syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 26, 2020
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:
RCV001293044.2

Allele description [Variation Report for NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter)]

NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter)

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.235C>T (p.Gln79Ter)
HGVS:
  • NC_000010.11:g.122461887C>T
  • NG_011554.1:g.5363C>T
  • NM_002775.5:c.235C>TMANE SELECT
  • NP_002766.1:p.Gln79Ter
  • NC_000010.10:g.124221403C>T
Protein change:
Q79*
Links:
dbSNP: rs2097481554
NCBI 1000 Genomes Browser:
rs2097481554
Molecular consequence:
  • NM_002775.5:c.235C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

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

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
SCV001433984Istanbul Faculty of Medicine, Istanbul University
no assertion criteria provided
Likely pathogenic
(Aug 26, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Istanbul Faculty of Medicine, Istanbul University, SCV001433984.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided

Description

Identified in index patient

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022