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NM_000093.5(COL5A1):c.608G>T (p.Gly203Val) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2017
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:
RCV000626600.2

Allele description [Variation Report for NM_000093.5(COL5A1):c.608G>T (p.Gly203Val)]

NM_000093.5(COL5A1):c.608G>T (p.Gly203Val)

Gene:
COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_000093.5(COL5A1):c.608G>T (p.Gly203Val)
HGVS:
  • NC_000009.12:g.134701287G>T
  • NG_008030.1:g.64482G>T
  • NM_000093.5:c.608G>TMANE SELECT
  • NM_001278074.1:c.608G>T
  • NP_000084.3:p.Gly203Val
  • NP_000084.3:p.Gly203Val
  • NP_001265003.1:p.Gly203Val
  • LRG_737t1:c.608G>T
  • LRG_737t2:c.608G>T
  • LRG_737:g.64482G>T
  • LRG_737p1:p.Gly203Val
  • LRG_737p2:p.Gly203Val
  • NC_000009.11:g.137593133G>T
  • NM_000093.4:c.608G>T
Protein change:
G203V
Links:
dbSNP: rs1554781700
NCBI 1000 Genomes Browser:
rs1554781700
Molecular consequence:
  • NM_000093.5:c.608G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.608G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inguinal hernia
Identifiers:
MedGen: C0019294; Human Phenotype Ontology: HP:0000023
Name:
Cataract
Synonyms:
Cataract (disease)
Identifiers:
MONDO: MONDO:0005129; MeSH: D002386; MedGen: C0086543; OMIM: PS116200; Human Phenotype Ontology: HP:0000518
Name:
Abnormally lax or hyperextensible skin
Identifiers:
MedGen: C4024736; Human Phenotype Ontology: HP:0008067
Name:
Soft skin
Identifiers:
MedGen: C1844592; Human Phenotype Ontology: HP:0000977
Name:
Bruising susceptibility
Synonyms:
Easy bruising
Identifiers:
MedGen: C0423798; Human Phenotype Ontology: HP:0000978
Name:
Mitral valve prolapse
Identifiers:
MONDO: MONDO:0004910; MedGen: C0026267; Human Phenotype Ontology: HP:0001634
Name:
Gastroesophageal reflux
Identifiers:
MedGen: C4317146; Human Phenotype Ontology: HP:0002020
Name:
Pneumothorax
Synonyms:
Pneumothorax (disease)
Identifiers:
MONDO: MONDO:0002076; MedGen: C0032326; Human Phenotype Ontology: HP:0002107
Name:
Difficulty walking
Identifiers:
MedGen: C0311394; Human Phenotype Ontology: HP:0002355
Name:
Patellar dislocation
Identifiers:
MedGen: C1135812; Human Phenotype Ontology: HP:0002999
Name:
Constrictive median neuropathy
Identifiers:
MedGen: C4023009; Human Phenotype Ontology: HP:0012185
Name:
Pain
Identifiers:
MedGen: C0030193; Human Phenotype Ontology: HP:0012531
Name:
Congenital hip dislocation
Synonyms:
Congenital dislocation of hip
Identifiers:
MedGen: C0019555; Human Phenotype Ontology: HP:0001374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000747301Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jan 1, 2017)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747301.1

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

Last Updated: Feb 7, 2023