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NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter) AND Congenital generalized lipodystrophy type 1

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000412578.10

Allele description [Variation Report for NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter)]

NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter)

Gene:
AGPAT2:1-acylglycerol-3-phosphate O-acyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter)
HGVS:
  • NC_000009.12:g.136673913G>A
  • NG_008090.1:g.18547C>T
  • NM_001012727.2:c.580C>T
  • NM_006412.4:c.676C>TMANE SELECT
  • NP_001012745.1:p.Gln194Ter
  • NP_006403.2:p.Gln226Ter
  • NC_000009.11:g.139568365G>A
  • NM_006412.3:c.676C>T
Protein change:
Q194*
Links:
dbSNP: rs1057517655
NCBI 1000 Genomes Browser:
rs1057517655
Molecular consequence:
  • NM_001012727.2:c.580C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006412.4:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Congenital generalized lipodystrophy type 1 (CGL1)
Synonyms:
BRUNZELL SYNDROME, AGPAT2-RELATED
Identifiers:
MONDO: MONDO:0012071; MedGen: C1720862; Orphanet: 528; OMIM: 608594

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000490126GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000490126.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024