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NM_001384479.1(AGT):c.161_162delinsT (p.Lys54fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 15, 2021
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:
RCV001807655.1

Allele description [Variation Report for NM_001384479.1(AGT):c.161_162delinsT (p.Lys54fs)]

NM_001384479.1(AGT):c.161_162delinsT (p.Lys54fs)

Gene:
AGT:angiotensinogen [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1q42.2
Genomic location:
Preferred name:
NM_001384479.1(AGT):c.161_162delinsT (p.Lys54fs)
Other names:
NM_000029.4:c.188_189delinsT
HGVS:
  • NC_000001.11:g.230710662_230710663delinsA
  • NG_008836.2:g.8928_8929delinsT
  • NM_001382817.3:c.161_162delinsT
  • NM_001384479.1:c.161_162delinsTMANE SELECT
  • NP_001369746.2:p.Lys54fs
  • NP_001371408.1:p.Lys54fs
  • NC_000001.10:g.230846408_230846409delinsA
Protein change:
K54fs
Links:
dbSNP: rs2102791328
NCBI 1000 Genomes Browser:
rs2102791328
Molecular consequence:
  • NM_001382817.3:c.161_162delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001384479.1:c.161_162delinsT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Large fontanelles
Identifiers:
MedGen: C0456132; Human Phenotype Ontology: HP:0000239
Name:
Anhydramnios
Identifiers:
MedGen: C0730379; Human Phenotype Ontology: HP:0025700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002037130Molecular Genetics laboratory, Necker Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 15, 2021) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical 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

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Jordan P, Dorval G, Arrondel C, Morinière V, Tournant C, Audrezet MP, Michel-Calemard L, Putoux A, Lesca G, Labalme A, Whalen S, Loeuillet L, Martinovic J, Attie-Bitach T, Bessières B, Schaefer E, Scheidecker S, Lambert L, Beneteau C, Patat O, Boute-Benejean O, Molin A, et al.

Hum Mutat. 2022 Mar;43(3):347-361. doi: 10.1002/humu.24324. Epub 2022 Jan 10.

PubMed [citation]
PMID:
35005812

Details of each submission

From Molecular Genetics laboratory, Necker Hospital, SCV002037130.1

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

Last Updated: Dec 24, 2023