NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Jan 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000618750.2

Allele description [Variation Report for NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)]

NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)

Gene:
SLC2A10:solute carrier family 2 member 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)
Other names:
p.A106G:GCT>GGT
HGVS:
  • NC_000020.11:g.46725353C>G
  • NG_016284.1:g.20714C>G
  • NM_030777.4:c.317C>GMANE SELECT
  • NP_110404.1:p.Ala106Gly
  • NC_000020.10:g.45353992C>G
  • NM_030777.3:c.317C>G
Protein change:
A106G
Links:
dbSNP: rs144095826
NCBI 1000 Genomes Browser:
rs144095826
Molecular consequence:
  • NM_030777.4:c.317C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000739652Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jan 3, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000739652.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.A106G variant (also known as c.317C>G), located in coding exon 2 of the SLC2A10 gene, results from a C to G substitution at nucleotide position 317. The alanine at codon 106 is replaced by glycine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species, and glycine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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