NM_000349.3(STAR):c.716_732del (p.Leu239fs) AND Congenital lipoid adrenal hyperplasia due to STAR deficency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 2, 2017
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:: RCV000670412.1

Allele description [Variation Report for NM_000349.3(STAR):c.716_732del (p.Leu239fs)]

NM_000349.3(STAR):c.716_732del (p.Leu239fs)

Gene:

STAR:steroidogenic acute regulatory protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8p11.23

Genomic location:

Preferred name:

NM_000349.3(STAR):c.716_732del (p.Leu239fs)

HGVS:

NC_000008.11:g.38145235_38145251del
NG_011827.1:g.10833_10849del
NM_000349.3:c.716_732delMANE SELECT
NP_000340.2:p.Leu239fs
NC_000008.10:g.38002753_38002769del
NM_000349.2:c.716_732del17

Protein change:

L239fs

Links:

dbSNP: rs1554502725

NCBI 1000 Genomes Browser:

rs1554502725

Molecular consequence:

NM_000349.3:c.716_732del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Congenital lipoid adrenal hyperplasia due to STAR deficency
Synonyms:: ADRENAL HYPERPLASIA I; Congenital lipoid adrenal hyperplasia; Lipoid CAH; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008725; MedGen: C0342474; Orphanet: 418; OMIM: 201710

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000795262	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Nov 2, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 8948562, 8943003 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000795262

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Nov 2, 2017)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Counsyl, SCV000795262.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Apr 23, 2022

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