NM_000685.5(AGTR1):c.1080A>G (p.Ter360Trp) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 24, 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:: RCV002507749.1

Allele description [Variation Report for NM_000685.5(AGTR1):c.1080A>G (p.Ter360Trp)]

NM_000685.5(AGTR1):c.1080A>G (p.Ter360Trp)

Gene:

AGTR1:angiotensin II receptor type 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q24

Genomic location:

Preferred name:

NM_000685.5(AGTR1):c.1080A>G (p.Ter360Trp)

HGVS:

NC_000003.12:g.148742115A>G
NG_008468.1:g.49245A>G
NM_000685.5:c.1080A>GMANE SELECT
NM_001382736.1:c.1080A>G
NM_001382737.1:c.1080A>G
NM_004835.5:c.1080A>G
NM_009585.4:c.1080A>G
NM_031850.4:c.1080A>G
NM_032049.4:c.1080A>G
NP_000676.1:p.Ter360Trp
NP_001369665.1:p.Ter360Trp
NP_001369666.1:p.Ter360Trp
NP_004826.6:p.Ter360Trp
NP_033611.1:p.Ter360Trp
NP_114038.5:p.Ter360Trp
NP_114438.3:p.Ter360Trp
NC_000003.11:g.148459902A>G
NM_031850.3:c.1185A>G

Links:

dbSNP: rs778604981

NCBI 1000 Genomes Browser:

rs778604981

Molecular consequence:

NM_000685.5:c.1080A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001382736.1:c.1080A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001382737.1:c.1080A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_004835.5:c.1080A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_009585.4:c.1080A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_031850.4:c.1080A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_032049.4:c.1080A>G - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:: Essential hypertension, genetic (EHT)
Identifiers:: MONDO: MONDO:0007781; MedGen: CN305331; OMIM: 145500

Name:: Renal tubular dysgenesis of genetic origin
Identifiers:: MONDO: MONDO:0009970; MedGen: C5681536; OMIM: 267430

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002815714	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 24, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002815714

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 24, 2022)

unknown

clinical testing

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

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

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002815714.1

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

#	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: Sep 29, 2024

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