NM_006412.4(AGPAT2):c.646_647inv (p.Lys216Leu) AND AGPAT2-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 18, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV003963649.2

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]

Condition(s)

Name:: AGPAT2-related disorder
Synonyms:: AGPAT2-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004779027	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Dec 18, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004779027

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Dec 18, 2023)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004779027.2

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

Description

The AGPAT2 c.646_647delinsTT variant is predicted to result in an in-frame deletion and insertion. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine