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NM_019844.4(SLCO1B3):c.97G>A (p.Ala33Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 29, 2024
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:
RCV004457128.1

Allele description [Variation Report for NM_019844.4(SLCO1B3):c.97G>A (p.Ala33Thr)]

NM_019844.4(SLCO1B3):c.97G>A (p.Ala33Thr)

Genes:
SLCO1B3-SLCO1B7:SLCO1B3-SLCO1B7 readthrough [Gene - HGNC]
SLCO1B3:solute carrier organic anion transporter family member 1B3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.2
Genomic location:
Preferred name:
NM_019844.4(SLCO1B3):c.97G>A (p.Ala33Thr)
HGVS:
  • NC_000012.12:g.20855040G>A
  • NG_032071.2:g.49337G>A
  • NM_001349920.2:c.13G>A
  • NM_001371097.1:c.97G>A
  • NM_019844.4:c.97G>AMANE SELECT
  • NP_001336849.1:p.Ala5Thr
  • NP_001358026.1:p.Ala33Thr
  • NP_062818.1:p.Ala33Thr
  • NC_000012.11:g.21007974G>A
  • NG_032071.1:g.49337G>A
  • NM_019844.2:c.97G>A
Protein change:
A33T
Molecular consequence:
  • NM_001349920.2:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371097.1:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019844.4:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004954005Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 29, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004954005.1

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

Description

The c.97G>A (p.A33T) alteration is located in exon 3 (coding exon 2) of the SLCO1B3 gene. This alteration results from a G to A substitution at nucleotide position 97, causing the alanine (A) at amino acid position 33 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 1, 2024