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NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 3, 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:
RCV000197366.12

Allele description [Variation Report for NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)]

NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)

Gene:
SLC2A10:solute carrier family 2 member 10 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)
HGVS:
  • NC_000020.10:g.45355548delG
  • NC_000020.11:g.46726909del
  • NG_016284.1:g.22270del
  • NM_030777.4:c.1334delMANE SELECT
  • NP_110404.1:p.Gly445fs
  • NC_000020.10:g.45355547del
  • NC_000020.10:g.45355548del
  • NC_000020.10:g.45355548delG
  • NC_000020.11:g.46726909delG
  • NM_030777.3:c.1334delG
  • NM_030777.4:c.1334delGMANE SELECT
  • NP_110404.1:p.Gly445fsTer40
  • p.G445EfsX40
Protein change:
G445fs
Links:
OMIM: 606145.0003; dbSNP: rs587776600
NCBI 1000 Genomes Browser:
rs587776600
Molecular consequence:
  • NM_030777.4:c.1334del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000250733GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Feb 3, 2022) 		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, SCV000250733.14

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Published functional studies demonstrate a damaging effect in SLC2A10-encoded protein levels in individuals homozygous for the variant that showed nearly absent expression, while heterozygous carriers in the family expressed about half the amount of protein compared to wild-type and deficiencies in protein transport (Coucke et al., 2006; Nemeth et al., 2016); Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 4587; ClinVar); This variant is associated with the following publications: (PMID: 27153185, 16550171, 17935213, 17163528, 19781076, 31589614, 28726533, 31786173)

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

Last Updated: Nov 24, 2024