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NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser) AND Sitosterolemia 1

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 23, 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:
RCV002245631.3

Allele description [Variation Report for NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)]

NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)

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.1667T>C (p.Phe556Ser)
Other names:
p.Phe556Ser
HGVS:
  • NC_000002.12:g.43875324T>C
  • NG_008884.2:g.48383T>C
  • NM_001357321.2:c.1664T>C
  • NM_022437.3:c.1667T>CMANE SELECT
  • NP_001344250.1:p.Phe555Ser
  • NP_071882.1:p.Phe556Ser
  • LRG_1182t1:c.1667T>C
  • LRG_1182:g.48383T>C
  • LRG_1182p1:p.Phe556Ser
  • NC_000002.11:g.44102463T>C
  • NG_008884.1:g.41361T>C
  • NM_022437.2:c.1667T>C
Protein change:
F555S
Links:
dbSNP: rs548098742
NCBI 1000 Genomes Browser:
rs548098742
Molecular consequence:
  • NM_001357321.2:c.1664T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022437.3:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Sitosterolemia 1
Identifiers:
MONDO: MONDO:0020747; MedGen: C2749759; OMIM: 210250

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002515684ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
no assertion criteria provided
Uncertain significanceunknownresearch

SCV003925202New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jun 23, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515684.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

From New York Genome Center, SCV003925202.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024