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NM_006412.4(AGPAT2):c.646_647inv (p.Lys216Leu) AND Congenital generalized lipodystrophy type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 15, 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:
RCV003228120.1

Allele description [Variation Report for NM_006412.4(AGPAT2):c.646_647inv (p.Lys216Leu)]

NM_006412.4(AGPAT2):c.646_647inv (p.Lys216Leu)

Gene:
AGPAT2:1-acylglycerol-3-phosphate O-acyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
Inversion
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_006412.4(AGPAT2):c.646_647inv (p.Lys216Leu)
HGVS:
  • NC_000009.12:g.136674749_136674750inv
  • NG_008090.1:g.17710_17711inv
  • NG_118315.1:g.75_76inv
  • NM_001012727.2:c.550_551inv
  • NM_006412.3:c.646_647delinsTT
  • NM_006412.4:c.646_647invMANE SELECT
  • NP_001012745.1:p.Lys184Leu
  • NP_006403.2:p.Lys216Leu
  • NC_000009.11:g.139569201_139569202delinsAA
  • NC_000009.11:g.139569201_139569202inv
  • NM_006412.4:c.646_647delAAinsTTMANE SELECT
Protein change:
K184L
Molecular consequence:
  • NM_001012727.2:c.550_551inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006412.4:c.646_647inv - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV003925359New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Apr 15, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot provided2not providedclinical testing

Details of each submission

From New York Genome Center, SCV003925359.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided
2germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024