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NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 30, 2012
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:
RCV000217844.4

Allele description [Variation Report for NM_139319.3(SLC17A8):c.1404C>T (p.Val468=)]

NM_139319.3(SLC17A8):c.1404C>T (p.Val468=)

Gene:
SLC17A8:solute carrier family 17 member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.1
Genomic location:
Preferred name:
NM_139319.3(SLC17A8):c.1404C>T (p.Val468=)
HGVS:
  • NC_000012.12:g.100418135C>T
  • NG_021175.1:g.66057C>T
  • NM_001145288.2:c.1254C>T
  • NM_139319.3:c.1404C>TMANE SELECT
  • NP_001138760.1:p.Val418=
  • NP_647480.1:p.Val468=
  • NC_000012.11:g.100811913C>T
  • NM_139319.2:c.1404C>T
  • p.Val468Val
Links:
dbSNP: rs140537845
NCBI 1000 Genomes Browser:
rs140537845
Molecular consequence:
  • NM_001145288.2:c.1254C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_139319.3:c.1404C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000270848Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Apr 30, 2012) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000270848.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Val468Val in Exon 11 of SLC17A8: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1/7020 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs140537845).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Feb 14, 2024