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NM_022436.3(ABCG5):c.1180C>T (p.Leu394=) AND Sitosterolemia

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 27, 2023
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:
RCV002519970.9

Allele description [Variation Report for NM_022436.3(ABCG5):c.1180C>T (p.Leu394=)]

NM_022436.3(ABCG5):c.1180C>T (p.Leu394=)

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.1180C>T (p.Leu394=)
HGVS:
  • NC_000002.12:g.43824057G>A
  • NG_008883.1:g.19763C>T
  • NG_053008.1:g.55019G>A
  • NM_001348912.2:c.*16-3329G>A
  • NM_001348913.2:c.*16-3329G>A
  • NM_022436.3:c.1180C>TMANE SELECT
  • NP_071881.1:p.Leu394=
  • LRG_1181t1:c.1180C>T
  • LRG_1181:g.19763C>T
  • LRG_1181p1:p.Leu394=
  • NC_000002.11:g.44051196G>A
  • NM_022436.2:c.1180C>T
Links:
dbSNP: rs771802286
NCBI 1000 Genomes Browser:
rs771802286
Molecular consequence:
  • NM_001348912.2:c.*16-3329G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348913.2:c.*16-3329G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022436.3:c.1180C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Sitosterolemia (STSL)
Synonyms:
Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body; Phytosterolemia; Plant sterol storage disease
Identifiers:
MONDO: MONDO:0008863; MedGen: C0342907; Orphanet: 2882; OMIM: PS210250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003260363Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Sep 27, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV003260363.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024