NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Feb 8, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002223753.13

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV002503074	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 8, 2022)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 11138003, 20521169, 32862661, 29353225, 32088153, 30007774, 25665839, 28771437, 25741868
SCV002525753	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 28, 2021)	germline	clinical testing	PubMed (11) [See all records that cite these PMIDs] 11138003, 15054092, 20521169, 25665839, 28771437, 29353225, 30007774, 30985648, 32088153, 32275988, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002503074

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 8, 2022)

germline

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

SCV002525753

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 28, 2021)

germline

clinical testing

PubMed (11)
[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	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease.

Nomura A, Emdin CA, Won HH, Peloso GM, Natarajan P, Ardissino D, Danesh J, Schunkert H, Correa A, Bown MJ, Samani NJ, Erdmann J, McPherson R, Watkins H, Saleheen D, Elosua R, Kawashiri MA, Tada H, Gupta N, Shah SH, Rader DJ, Gabriel S, et al.

Circ Genom Precis Med. 2020 Oct;13(5):417-423. doi: 10.1161/CIRCGEN.119.002871. Epub 2020 Aug 30.

PubMed [citation]

PMID:: 32862661
PMCID:: PMC7983048

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

Lee MH, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H, Kojima H, Allikmets R, Sakuma N, Pegoraro R, Srivastava AK, Salen G, Dean M, Patel SB.

Nat Genet. 2001 Jan;27(1):79-83.

PubMed [citation]

PMID:: 11138003
PMCID:: PMC1350991

See all PubMed Citations (12)

Details of each submission

From AiLife Diagnostics, AiLife Diagnostics, SCV002503074.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (9)

#	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		3	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV002525753.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

PS3, PS4, PM3

#	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

ClinVar

Relating variation to medicine