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NM_006517.5(SLC16A2):c.325T>C (p.Trp109Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 11, 2019
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:
RCV001817856.4

Allele description [Variation Report for NM_006517.5(SLC16A2):c.325T>C (p.Trp109Arg)]

NM_006517.5(SLC16A2):c.325T>C (p.Trp109Arg)

Gene:
SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.2
Genomic location:
Preferred name:
NM_006517.5(SLC16A2):c.325T>C (p.Trp109Arg)
HGVS:
  • NC_000023.11:g.74421962T>C
  • NG_011641.2:g.5713T>C
  • NM_006517.5:c.325T>CMANE SELECT
  • NP_006508.2:p.Trp109Arg
  • NC_000023.10:g.73641797T>C
  • NM_006517.4:c.325T>C
Protein change:
W109R
Links:
dbSNP: rs2147834066
NCBI 1000 Genomes Browser:
rs2147834066
Molecular consequence:
  • NM_006517.5:c.325T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002067259Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 11, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Genetic Services Laboratory, University of Chicago, SCV002067259.1

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

Description

DNA sequence analysis of the SLC16A2 gene demonstrated a sequence change, c.325T>C, in exon 1 that results in an amino acid change, p.Trp109Arg. The p.Trp109Arg change affects a moderately conserved amino acid residue located in a domain of the SLC16A2 protein that is known to be functional. The p.Trp109Arg substitution appears to be possibly damaging using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, CADD, REVEL). This amino acid change has been identified in a patient with MCT8 deficiency (Refetoff S., unpublished data). This sequence change is absent from the gnomAD population database.

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

Last Updated: Dec 24, 2023