NM_006516.4(SLC2A1):c.828_841del (p.Val277fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 29, 2013
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:: RCV000189387.1

Allele description [Variation Report for NM_006516.4(SLC2A1):c.828_841del (p.Val277fs)]

NM_006516.4(SLC2A1):c.828_841del (p.Val277fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1p34.2

Genomic location:

Preferred name:

NM_006516.4(SLC2A1):c.828_841del (p.Val277fs)

HGVS:

NC_000001.11:g.42929624_42929637del
NG_008232.1:g.34545_34558del
NM_006516.4:c.828_841delMANE SELECT
NP_006507.2:p.Val277fs
LRG_1132:g.34545_34558del
NC_000001.10:g.43395295_43395308del
NM_006516.2:c.828_841delGGTGCTGCAGCTGT
p.V277PfsX99

Protein change:

V277fs

Links:

dbSNP: rs796053268

NCBI 1000 Genomes Browser:

rs796053268

Molecular consequence:

NM_006516.4:c.828_841del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000243025	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 29, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000243025

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 29, 2013)

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, SCV000243025.3

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

Description

c.828_841delGGTGCTGCAGCTGT: p.Val277ProfsX99 (V277PfsX99) in exon 6 of the SLC2A1 gene (NM_006516.2). The normal sequence with the bases that are deleted in braces is: CTGT{GGTGCTGCAGCTGT}CCCA.The c.828_841delGGTGCTGCAGCTGT mutation in the SLC2A1 gene causes a frameshift starting with codon Valine 277, changes this amino acid to a Proline residue and creates a premature Stop codon at position 99 of the new reading frame, denoted p.Val277ProfsX99. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This mutation has not been previously reported to our knowledge. The variant is found in EPILEPSY panel(s).

#	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: Apr 23, 2022

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