NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) AND Ehlers-Danlos syndrome, type 7A

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000304627.2

Allele description [Variation Report for NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)]

NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)

Gene:
COL5A2:collagen type V alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)
Other names:
p.T1230T:ACA>ACC
HGVS:
  • NC_000002.12:g.189039507T>G
  • NG_011799.2:g.145373A>C
  • NG_011799.3:g.190795A>C
  • NM_000393.5:c.3690A>CMANE SELECT
  • NP_000384.2:p.Thr1230=
  • LRG_738t1:c.3690A>C
  • LRG_738:g.190795A>C
  • LRG_738p1:p.Thr1230=
  • NC_000002.11:g.189904233T>G
  • NM_000393.3:c.3690A>C
  • p.Thr1230Thr
Links:
dbSNP: rs10197596
NCBI 1000 Genomes Browser:
rs10197596
Molecular consequence:
  • NM_000393.5:c.3690A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Ehlers-Danlos syndrome, type 7A (EDS7A)
Identifiers:
MONDO: MONDO:0020521; MedGen: C3508773

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000425617Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000425617.2

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

Last Updated: Nov 10, 2021

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