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NM_139319.3(SLC17A8):c.547G>A (p.Gly183Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 8, 2013
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:
RCV000151880.4

Allele description [Variation Report for NM_139319.3(SLC17A8):c.547G>A (p.Gly183Arg)]

NM_139319.3(SLC17A8):c.547G>A (p.Gly183Arg)

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.547G>A (p.Gly183Arg)
HGVS:
  • NC_000012.12:g.100393442G>A
  • NG_021175.1:g.41364G>A
  • NM_001145288.2:c.547G>A
  • NM_139319.3:c.547G>AMANE SELECT
  • NP_001138760.1:p.Gly183Arg
  • NP_647480.1:p.Gly183Arg
  • NC_000012.11:g.100787220G>A
  • NM_139319.2:c.547G>A
Protein change:
G183R
Links:
dbSNP: rs150737570
NCBI 1000 Genomes Browser:
rs150737570
Molecular consequence:
  • NM_001145288.2:c.547G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139319.3:c.547G>A - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000200375Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Sep 8, 2013) 		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, SCV000200375.5

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

Description

The Gly183Arg variant in SLC17A8 has not been reported in individuals with heari ng loss but has been identified in 0.02% (2/8600) of European American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbS NP rs150737570). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational an alyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, a nd SIFT) do not provide strong support for or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant.

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

Last Updated: Dec 24, 2022