NM_002775.5(HTRA1):c.517G>T (p.Ala173Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 28, 2022
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:: RCV000711025.3

Allele description [Variation Report for NM_002775.5(HTRA1):c.517G>T (p.Ala173Ser)]

NM_002775.5(HTRA1):c.517G>T (p.Ala173Ser)

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.517G>T (p.Ala173Ser)

HGVS:

NC_000010.11:g.122488946G>T
NG_011554.1:g.32422G>T
NM_002775.5:c.517G>TMANE SELECT
NP_002766.1:p.Ala173Ser
NC_000010.10:g.124248462G>T
NM_002775.4:c.517G>T

Protein change:

A173S

Links:

dbSNP: rs781563777

NCBI 1000 Genomes Browser:

rs781563777

Molecular consequence:

NM_002775.5:c.517G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000841343	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Jun 28, 2022)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 34461444, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000841343

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Jun 28, 2022)

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Two Unique Mutations in HTRA1-Related Cerebral Small Vessel Disease in North America and Africa and Literature Review.

Shang T, Pinho M, Ray D, Khera A.

J Stroke Cerebrovasc Dis. 2021 Nov;30(11):106029. doi: 10.1016/j.jstrokecerebrovasdis.2021.106029. Epub 2021 Aug 27. Review.

PubMed [citation]

PMID:: 34461444

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV000841343.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 24, 2023

ClinVar

Relating variation to medicine