NM_019844.4(SLCO1B3):c.334T>G (p.Ser112Ala) AND not specified

Clinical significance:Benign
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000245173.2

Allele description [Variation Report for NM_019844.4(SLCO1B3):c.334T>G (p.Ser112Ala)]

NM_019844.4(SLCO1B3):c.334T>G (p.Ser112Ala)

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.334T>G (p.Ser112Ala)

HGVS:

NC_000012.12:g.20858546T>G
NG_032071.1:g.52843T>G
NM_001349920.2:c.250T>G
NM_019844.4:c.334T>GMANE SELECT
NP_001336849.1:p.Ser84Ala
NP_062818.1:p.Ser112Ala
NC_000012.11:g.21011480T>G
NM_019844.3:c.334T>G
Q9NPD5:p.Ser112Ala

Protein change:

S112A

Links:

UniProtKB: Q9NPD5#VAR_024645; dbSNP: rs4149117

NCBI 1000 Genomes Browser:

rs4149117

Molecular consequence:

NM_001349920.2:c.250T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_019844.4:c.334T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000313414	PreventionGenetics,PreventionGenetics	criteria provided, single submitter ACMG Guidelines, 2015	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000313414

PreventionGenetics,PreventionGenetics

criteria provided, single submitter

ACMG Guidelines, 2015

Benign

germline

clinical testing

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

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PreventionGenetics,PreventionGenetics, SCV000313414.1

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

#	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

Last Updated: Mar 4, 2023

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