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NM_000090.4(COL3A1):c.1235C>T (p.Ala412Val) AND Ehlers-Danlos syndrome, type 4

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 30, 2016
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:
RCV000415680.1

Allele description [Variation Report for NM_000090.4(COL3A1):c.1235C>T (p.Ala412Val)]

NM_000090.4(COL3A1):c.1235C>T (p.Ala412Val)

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.1235C>T (p.Ala412Val)
HGVS:
  • NC_000002.12:g.188994274C>T
  • NG_007404.1:g.24902C>T
  • NM_000090.4:c.1235C>TMANE SELECT
  • NP_000081.1:p.Ala412Val
  • NP_000081.2:p.Ala412Val
  • LRG_3t1:c.1235C>T
  • LRG_3:g.24902C>T
  • LRG_3p1:p.Ala412Val
  • NC_000002.11:g.189859000C>T
  • NM_000090.3:c.1235C>T
Protein change:
A412V
Links:
dbSNP: rs1057519250
NCBI 1000 Genomes Browser:
rs1057519250
Molecular consequence:
  • NM_000090.4:c.1235C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ehlers-Danlos syndrome, type 4
Synonyms:
Ehlers-Danlos syndrome vascular type; Ehlers Danlos syndrome, ecchymotic type; Ehlers Danlos syndrome, arterial type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0017314; MedGen: C0268338; Orphanet: 286; OMIM: 130050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000493727Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGen
no assertion criteria provided

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 30, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGen, SCV000493727.1

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

Last Updated: Jun 2, 2024