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NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro) AND Ehlers-Danlos syndrome, classic type

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000583694.3

Allele description [Variation Report for NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro)]

NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro)

Gene:
SLC2A10:solute carrier family 2 member 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro)
HGVS:
  • NC_000020.11:g.46725200T>C
  • NG_016284.1:g.20561T>C
  • NM_030777.4:c.164T>CMANE SELECT
  • NP_110404.1:p.Leu55Pro
  • NC_000020.10:g.45353839T>C
  • NM_030777.3:c.164T>C
Protein change:
L55P
Links:
dbSNP: rs1555887820
NCBI 1000 Genomes Browser:
rs1555887820
Molecular consequence:
  • NM_030777.4:c.164T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ehlers-Danlos syndrome, classic type (cEDS)
Identifiers:
MONDO: MONDO:0007522; MedGen: C4225429; Orphanet: 287

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000692257Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Uncertain significance
(Aug 22, 2017) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692257.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024