NM_002775.5(HTRA1):c.835G>A (p.Val279Met) AND Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 20, 2020
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:: RCV001255607.3

Allele description [Variation Report for NM_002775.5(HTRA1):c.835G>A (p.Val279Met)]

NM_002775.5(HTRA1):c.835G>A (p.Val279Met)

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.835G>A (p.Val279Met)

HGVS:

NC_000010.11:g.122506748G>A
NG_011554.1:g.50224G>A
NM_002775.5:c.835G>AMANE SELECT
NP_002766.1:p.Val279Met
NC_000010.10:g.124266264G>A
NM_002775.4:c.835G>A
p.V279M

Protein change:

V279M

Links:

dbSNP: rs745305935

NCBI 1000 Genomes Browser:

rs745305935

Molecular consequence:

NM_002775.5:c.835G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 (CADASIL2)
Identifiers:: MONDO: MONDO:0014768; MedGen: C4225211; OMIM: 616779

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001432133	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 20, 2020)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 30981321, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001432133

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 20, 2020)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Causasians	unknown	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical application of next-generation sequencing to the practice of neurology.

Rexach J, Lee H, Martinez-Agosto JA, Németh AH, Fogel BL.

Lancet Neurol. 2019 May;18(5):492-503. doi: 10.1016/S1474-4422(19)30033-X. Review.

PubMed [citation]

PMID:: 30981321
PMCID:: PMC7055532

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

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV001432133.1

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

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

Last Updated: Oct 20, 2024

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