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NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) AND not provided

Germline classification:
Uncertain significance (6 submissions)
Last evaluated:
Feb 24, 2023
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:
RCV000658134.33

Allele description [Variation Report for NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)]

NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)

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.593G>A (p.Arg198Gln)
Other names:
p.Arg198Gln
HGVS:
  • NC_000002.12:g.43828024C>T
  • NG_008883.1:g.15796G>A
  • NG_008884.2:g.1083C>T
  • NG_053008.1:g.58986C>T
  • NM_001348912.2:c.*654C>T
  • NM_001348913.2:c.*654C>T
  • NM_022436.3:c.593G>AMANE SELECT
  • NP_071881.1:p.Arg198Gln
  • LRG_1181t1:c.593G>A
  • LRG_1181:g.15796G>A
  • LRG_1181p1:p.Arg198Gln
  • LRG_1182:g.1083C>T
  • NC_000002.11:g.44055163C>T
  • NM_022436.2:c.593G>A
Protein change:
R198Q
Links:
dbSNP: rs141828689
NCBI 1000 Genomes Browser:
rs141828689
Molecular consequence:
  • NM_001348912.2:c.*654C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001348913.2:c.*654C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_022436.3:c.593G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
10

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000337331Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)
Uncertain significance
(Jun 15, 2018)
germlineclinical testing

Citation Link,

SCV000779905GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(May 24, 2018)
germlineclinical testing

Citation Link,

SCV001152242CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Uncertain significance
(Oct 1, 2018)
germlineclinical testing

Citation Link,

SCV001963432Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV001979090Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV004224879Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Feb 24, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown9not providednot providednot providednot providedclinical testing

Citations

PubMed

ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.

Lamiquiz-Moneo I, Baila-Rueda L, Bea AM, Mateo-Gallego R, Pérez-Calahorra S, Marco-Benedí V, Martín-Navarro A, Ros E, Cofán M, Rodríguez-Rey JC, Pocovi M, Cenarro A, Civeira F.

J Clin Lipidol. 2017 Nov - Dec;11(6):1432-1440.e4. doi: 10.1016/j.jacl.2017.09.005. Epub 2017 Oct 4.

PubMed [citation]
PMID:
29066094

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS, Wang J, McIntyre AD, Iacocca MA, Robinson JF, Ban MR, Cao H, Hegele RA.

BMC Med Genomics. 2020 Feb 10;13(1):23. doi: 10.1186/s12920-020-0669-2.

PubMed [citation]
PMID:
32041611
PMCID:
PMC7011550
See all PubMed Citations (4)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000337331.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided8not providednot providednot provided

From GeneDx, SCV000779905.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R198Q variant in the ABCG5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R198Q variant is observed in 276/126,586 (0.2%) alleles from individuals of non-Finnish European background in large population cohorts, and no individuals were reported to be homozygous (Lek et al., 2016). The R198Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R198Q as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV001152242.24

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001963432.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001979090.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV004224879.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024