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NM_000341.4(SLC3A1):c.50G>C (p.Gly17Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 7, 2017
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:
RCV000756650.9

Allele description [Variation Report for NM_000341.4(SLC3A1):c.50G>C (p.Gly17Ala)]

NM_000341.4(SLC3A1):c.50G>C (p.Gly17Ala)

Gene:
SLC3A1:solute carrier family 3 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000341.4(SLC3A1):c.50G>C (p.Gly17Ala)
HGVS:
  • NC_000002.12:g.44275585G>C
  • NG_008233.1:g.5128G>C
  • NM_000341.4:c.50G>CMANE SELECT
  • NP_000332.2:p.Gly17Ala
  • NC_000002.11:g.44502724G>C
  • NM_000341.3:c.50G>C
Protein change:
G17A
Links:
dbSNP: rs769462475
NCBI 1000 Genomes Browser:
rs769462475
Molecular consequence:
  • NM_000341.4:c.50G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000884530ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Jun 7, 2017) 		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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884530.1

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

Description

The p.Gly17Ala variant (rs769462475) has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is listed in the Genome Aggregation Database (gnomAD) browser with an overall frequency of 0.001% (identified in 4 out of 277,074 chromosomes). The SLC3A1 at codon 17 is weakly conserved considering 21 species (Alamut software v2.9), and several species have an alanine at this position, suggesting this change is evolutionary tolerated. In agreement, computational analyses suggest this variant does not have a significant effect on SLC3A1 protein structure/function (SIFT: tolerated and PolyPhen2: benign). However, based on the available information, the clinical significance of the p.Gly17Ala variant cannot be determined with certainty.

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

Last Updated: Mar 4, 2023