NM_006516.4(SLC2A1):c.939dup (p.Gly314fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 23, 2016
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:: RCV000281833.1

Allele description [Variation Report for NM_006516.4(SLC2A1):c.939dup (p.Gly314fs)]

NM_006516.4(SLC2A1):c.939dup (p.Gly314fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

1p34.2

Genomic location:

Preferred name:

NM_006516.4(SLC2A1):c.939dup (p.Gly314fs)

HGVS:

NC_000001.11:g.42929244dup
NG_008232.1:g.34934dup
NM_006516.4:c.939dupMANE SELECT
NP_006507.2:p.Gly314fs
LRG_1132:g.34934dup
NC_000001.10:g.43394913_43394914insG
NC_000001.10:g.43394915dup
NM_006516.2:c.939dupC

Protein change:

G314fs

Links:

dbSNP: rs886041590

NCBI 1000 Genomes Browser:

rs886041590

Molecular consequence:

NM_006516.4:c.939dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000330279	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 23, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000330279

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 23, 2016)

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, SCV000330279.6

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

Description

The c.939dupC pathogenic variant in the SLC2A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.939dupC variant causes a frameshift starting with codon Glycine 314, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 67 of the new reading frame, denoted p.Gly314ArgfsX67. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.939dupC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.939dupC as a pathogenic variant.

#	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

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