NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) AND Sitosterolemia 2

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 30, 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:: RCV000005268.16

Allele description [Variation Report for NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)]

NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)

Genes:

ABCG5:ATP binding cassette subfamily G member 5 [Gene - OMIM - HGNC]
DYNC2LI1:dynein cytoplasmic 2 light intermediate chain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)

HGVS:

NC_000002.12:g.43824071C>T
NG_008883.1:g.19749G>A
NG_053008.1:g.55033C>T
NM_001348912.2:c.*16-3315C>T
NM_001348913.2:c.*16-3315C>T
NM_022436.3:c.1166G>AMANE SELECT
NP_071881.1:p.Arg389His
LRG_1181t1:c.1166G>A
LRG_1181:g.19749G>A
LRG_1181p1:p.Arg389His
NC_000002.11:g.44051210C>T
NM_022436.2:c.1166G>A
Q9H222:p.Arg389His

Protein change:

R389H; ARG389HIS

Links:

UniProtKB: Q9H222#VAR_012245; OMIM: 605459.0005; dbSNP: rs119480069

NCBI 1000 Genomes Browser:

rs119480069

Molecular consequence:

NM_001348912.2:c.*16-3315C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001348913.2:c.*16-3315C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_022436.3:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Sitosterolemia 2
Identifiers:: MONDO: MONDO:0020748; MedGen: C5231453; OMIM: 618666

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025446	OMIM	no assertion criteria provided	Pathogenic (Nov 19, 2019)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV003815468	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 30, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025446

OMIM

no assertion criteria provided

Pathogenic
(Nov 19, 2019)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV003815468

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 30, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.

Lu K, Lee MH, Yu H, Zhou Y, Sandell SA, Salen G, Patel SB.

J Lipid Res. 2002 Apr;43(4):565-78.

PubMed [citation]

PMID:: 11907139
PMCID:: PMC1815568

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV000025446.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a large multiethnic cohort of patients with sitosterolemia (STSL2; 618666), Lu et al. (2001) found that an arg389-to-his mutation was present in 6 of 20 alleles and was found only in Japanese patients. The mutation was not found in a random sample of 82 normal Japanese subjects.

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

From Revvity Omics, Revvity, SCV003815468.2

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

#	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 26, 2024

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