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NM_001382817.3(AGT):c.-30-3273G>A AND Renal tubular dysgenesis

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000262949.14

Allele description [Variation Report for NM_001382817.3(AGT):c.-30-3273G>A]

NM_001382817.3(AGT):c.-30-3273G>A

Gene:
AGT:angiotensinogen [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.2
Genomic location:
Preferred name:
NM_001382817.3(AGT):c.-30-3273G>A
Other names:
NM_000029.3:c.-44G>A
HGVS:
  • NC_000001.11:g.230714126C>T
  • NG_008836.3:g.36457G>A
  • NM_001382817.3:c.-30-3273G>A
  • NC_000001.10:g.230849872C>T
  • NG_008836.2:g.5465G>A
Note:
NCBI staff provided an HGVS expression for the A allele described in allelic variant 106150.0002 from the sequence (CCCGGCCAGGGGAAGAAG) reported by Inoue et al., 1997 (PubMed 9120024). This allele is in tight linkage disequilibrium with other variants, and is a marker for the -6A haplotype.
Links:
OMIM: 106150.0002; dbSNP: rs5051
NCBI 1000 Genomes Browser:
rs5051
Molecular consequence:
  • NM_001382817.3:c.-30-3273G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Renal tubular dysgenesis
Synonyms:
Primitive renal tubule syndrome; Renotubular dysgenesis
Identifiers:
MONDO: MONDO:0017609; MedGen: C0266313; Human Phenotype Ontology: HP:0008660

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000355408Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A nucleotide substitution in the promoter of human angiotensinogen is associated with essential hypertension and affects basal transcription in vitro.

Inoue I, Nakajima T, Williams CS, Quackenbush J, Puryear R, Powers M, Cheng T, Ludwig EH, Sharma AM, Hata A, Jeunemaitre X, Lalouel JM.

J Clin Invest. 1997 Apr 1;99(7):1786-97.

PubMed [citation]
PMID:
9120024
PMCID:
PMC508000

Angiotensinogen single nucleotide polymorphisms, elevated blood pressure, and risk of cardiovascular disease.

Sethi AA, Nordestgaard BG, Grønholdt ML, Steffensen R, Jensen G, Tybjaerg-Hansen A.

Hypertension. 2003 Jun;41(6):1202-11. Epub 2003 May 12.

PubMed [citation]
PMID:
12743009

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000355408.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 19, 2025