NM_022437.3(ABCG8):c.551G>A (p.Arg184His) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Apr 19, 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:: RCV000406333.12

Allele description [Variation Report for NM_022437.3(ABCG8):c.551G>A (p.Arg184His)]

NM_022437.3(ABCG8):c.551G>A (p.Arg184His)

Gene:

ABCG8:ATP binding cassette subfamily G member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_022437.3(ABCG8):c.551G>A (p.Arg184His)

HGVS:

NC_000002.12:g.43851812G>A
NG_008884.2:g.24871G>A
NM_001357321.2:c.551G>A
NM_022437.3:c.551G>AMANE SELECT
NP_001344250.1:p.Arg184His
NP_071882.1:p.Arg184His
LRG_1182t1:c.551G>A
LRG_1182:g.24871G>A
LRG_1182p1:p.Arg184His
NC_000002.11:g.44078951G>A
NG_008884.1:g.17849G>A
NM_022437.2:c.551G>A
Q9H221:p.Arg184His

Protein change:

R184H

Links:

UniProtKB: Q9H221#VAR_012252; dbSNP: rs766212636

NCBI 1000 Genomes Browser:

rs766212636

Molecular consequence:

NM_001357321.2:c.551G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_022437.3:c.551G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000345697	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Aug 29, 2016)	germline	clinical testing	Citation Link,
SCV001410438	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 19, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11452359, 28492532
SCV002502980	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 17, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11452359, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000345697

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Aug 29, 2016)

germline

clinical testing

Citation Link,

SCV001410438

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 19, 2022)

germline

clinical testing

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

SCV002502980

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 17, 2021)

germline

clinical testing

PubMed (2)
[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	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H, Ose L, Stalenhoef AF, Mietinnen T, Bjorkhem I, Bruckert E, Pandya A, Brewer HB Jr, Salen G, Dean M, Srivastava A, Patel SB.

Am J Hum Genet. 2001 Aug;69(2):278-90. Epub 2001 Jul 9.

PubMed [citation]

PMID:: 11452359
PMCID:: PMC1201544

See all PubMed Citations (3)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000345697.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	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	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Invitae, SCV001410438.5

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

Description

Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 184 of the ABCG8 protein (p.Arg184His). This variant is present in population databases (rs766212636, gnomAD 0.008%). This missense change has been observed in individual(s) with sitosterolemia (PMID: 11452359). This variant is also known as c.641G>A. ClinVar contains an entry for this variant (Variation ID: 291020). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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

From AiLife Diagnostics, AiLife Diagnostics, SCV002502980.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 14, 2024

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