NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 24, 2022
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:: RCV001588909.5

Allele description [Variation Report for NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser)]

NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser)

Gene:

SLC2A1:solute carrier family 2 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

Preferred name:

NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser)

HGVS:

NC_000001.11:g.42927651T>C
NG_008232.1:g.36526A>G
NM_006516.4:c.1232A>GMANE SELECT
NP_006507.2:p.Asn411Ser
LRG_1132:g.36526A>G
NC_000001.10:g.43393322T>C
NM_006516.2:c.1232A>G
P11166:p.Asn411Ser

Protein change:

N411S; ASN411SER

Links:

UniProtKB: P11166#VAR_076234; OMIM: 138140.0022; dbSNP: rs398123069

NCBI 1000 Genomes Browser:

rs398123069

Molecular consequence:

NM_006516.4:c.1232A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001816654	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Feb 24, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001816654

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Feb 24, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001816654.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Published functional studies with Xenopus oocytes demonstrate mild reduction in glucose transport (Arsov et al., 2012; Zaman et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28717674, 30588498, 23280796, Guzmn-Jimnez2019[Review], 33806661)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine