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NM_000090.4(COL3A1):c.1151G>T (p.Gly384Val) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 14, 2014
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:
RCV000175122.4

Allele description [Variation Report for NM_000090.4(COL3A1):c.1151G>T (p.Gly384Val)]

NM_000090.4(COL3A1):c.1151G>T (p.Gly384Val)

Gene:
COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_000090.4(COL3A1):c.1151G>T (p.Gly384Val)
HGVS:
  • NC_000002.12:g.188994039G>T
  • NG_007404.1:g.24667G>T
  • NM_000090.4:c.1151G>TMANE SELECT
  • NP_000081.2:p.Gly384Val
  • LRG_3:g.24667G>T
  • NC_000002.11:g.189858765G>T
Protein change:
G384V
Links:
dbSNP: rs794727181
NCBI 1000 Genomes Browser:
rs794727181
Molecular consequence:
  • NM_000090.4:c.1151G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000226554Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Likely pathogenic
(Jul 14, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.

Shimaoka Y, Kosho T, Wataya-Kaneda M, Funakoshi M, Suzuki T, Hayashi S, Mitsuhashi Y, Isei T, Aoki Y, Yamazaki K, Ono M, Makino K, Tanaka T, Kunii E, Hatamochi A.

Br J Dermatol. 2010 Oct;163(4):704-10. doi: 10.1111/j.1365-2133.2010.09874.x.

PubMed [citation]
PMID:
20518783

Details of each submission

From Eurofins Ntd Llc (ga), SCV000226554.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 1, 2023