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NM_006516.4(SLC2A1):c.84C>T (p.Tyr28=) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 8, 2018
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:
RCV000827108.1

Allele description [Variation Report for NM_006516.4(SLC2A1):c.84C>T (p.Tyr28=)]

NM_006516.4(SLC2A1):c.84C>T (p.Tyr28=)

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.84C>T (p.Tyr28=)
HGVS:
  • NC_000001.11:g.42943256G>A
  • NG_008232.1:g.20921C>T
  • NM_006516.4:c.84C>TMANE SELECT
  • NP_006507.2:p.Tyr28=
  • LRG_1132:g.20921C>T
  • NC_000001.10:g.43408927G>A
  • NM_006516.2:c.84C>T
Links:
dbSNP: rs1418027264
NCBI 1000 Genomes Browser:
rs1418027264
Molecular consequence:
  • NM_006516.4:c.84C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000968727GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(May 8, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000968727.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Apr 23, 2022