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NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile) AND Exercise-induced hyperinsulinism

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 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:
RCV001100248.4

Allele description [Variation Report for NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile)]

NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile)

Gene:
SLC16A1:solute carrier family 16 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile)
HGVS:
  • NC_000001.11:g.112914112C>T
  • NG_015880.2:g.46817G>A
  • NM_001166496.2:c.1282G>A
  • NM_003051.4:c.1282G>AMANE SELECT
  • NP_001159968.1:p.Val428Ile
  • NP_003042.3:p.Val428Ile
  • NC_000001.10:g.113456734C>T
  • NC_000001.10:g.113456734C>T
  • NM_003051.3:c.1282G>A
Protein change:
V428I
Links:
dbSNP: rs536012651
NCBI 1000 Genomes Browser:
rs536012651
Molecular consequence:
  • NM_001166496.2:c.1282G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003051.4:c.1282G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Exercise-induced hyperinsulinism (HHF7)
Synonyms:
Exercise-induced hyperinsulinemic hypoglycemia; Hyperinsulinemic hypoglycemia familial 7
Identifiers:
MONDO: MONDO:0012396; MedGen: C1864902; OMIM: 610021

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001256761Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Likely benign
(Apr 27, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genetic variations in the MCT1 (SLC16A1) gene in the Chinese population of Singapore.

Lean CB, Lee EJ.

Drug Metab Pharmacokinet. 2009;24(5):469-74.

PubMed [citation]
PMID:
19881260

Variants of the Solute Carrier SLC16A1 Gene (MCT1) Associated With Metabolic Responses During a Long-Graded Test in Road Cyclists.

González-Haro C, Soria M, Vicente J, Fanlo AJ, Sinués B, Escanero JF.

J Strength Cond Res. 2015 Dec;29(12):3494-505. doi: 10.1519/JSC.0000000000000994.

PubMed [citation]
PMID:
26595136
See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001256761.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Sep 29, 2024