NM_000349.3(STAR):c.505G>A (p.Glu169Lys) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 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:: RCV000517184.2

Allele description [Variation Report for NM_000349.3(STAR):c.505G>A (p.Glu169Lys)]

NM_000349.3(STAR):c.505G>A (p.Glu169Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.23

Genomic location:

Preferred name:

NM_000349.3(STAR):c.505G>A (p.Glu169Lys)

HGVS:

NC_000008.11:g.38146108C>T
NG_011827.1:g.9975G>A
NM_000349.3:c.505G>AMANE SELECT
NP_000340.2:p.Glu169Lys
NC_000008.10:g.38003626C>T
NM_000349.2:c.505G>A
p.GLU169LYS

Protein change:

E169K

Links:

dbSNP: rs747169620

NCBI 1000 Genomes Browser:

rs747169620

Molecular consequence:

NM_000349.3:c.505G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000615514	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Feb 1, 2017)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 8948562, 26523528, 23920000, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000615514

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Feb 1, 2017)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Citations

PubMed

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

Bose HS, Sugawara T, Strauss JF 3rd, Miller WL; International Congenital Lipoid Adrenal Hyperplasia Consortium..

N Engl J Med. 1996 Dec 19;335(25):1870-8.

PubMed [citation]

PMID:: 8948562

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.

Guran T, Buonocore F, Saka N, Ozbek MN, Aycan Z, Bereket A, Bas F, Darcan S, Bideci A, Guven A, Demir K, Akinci A, Buyukinan M, Aydin BK, Turan S, Agladioglu SY, Atay Z, Abali ZY, Tarim O, Catli G, Yuksel B, Akcay T, et al.

J Clin Endocrinol Metab. 2016 Jan;101(1):284-92. doi: 10.1210/jc.2015-3250. Epub 2015 Nov 2.

PubMed [citation]

PMID:: 26523528
PMCID:: PMC4701852

See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV000615514.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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: Jun 17, 2024

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