NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter) AND Congenital generalized lipodystrophy type 4

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001261601.1

Allele description [Variation Report for NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter)]

NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter)

Gene:

CAVIN1:caveolae associated protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter)

HGVS:

NC_000017.11:g.42405310C>A
NG_015845.1:g.23011G>T
NG_015845.2:g.23011G>T
NM_012232.6:c.550G>TMANE SELECT
NP_036364.2:p.Glu184Ter
NC_000017.10:g.40557328C>A

Protein change:

E184*

Links:

dbSNP: rs199720089

NCBI 1000 Genomes Browser:

rs199720089

Molecular consequence:

NM_012232.6:c.550G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Congenital generalized lipodystrophy type 4
Synonyms:: BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 4, WITH MUSCULAR DYSTROPHY
Identifiers:: MONDO: MONDO:0013225; MedGen: C2750069; Orphanet: 228429; OMIM: 613327

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001438882	Pathology and Clinical Laboratory Medicine, King Fahad Medical City	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001438882

Pathology and Clinical Laboratory Medicine, King Fahad Medical City

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Arab	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Pathology and Clinical Laboratory Medicine, King Fahad Medical City, SCV001438882.1

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

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

Last Updated: Apr 23, 2022

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