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NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys) AND multiple conditions

Germline classification:
Uncertain significance (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:
RCV000626599.2

Allele description [Variation Report for NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys)]

NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys)

Genes:
COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
LOC101448202:uncharacterized LOC101448202 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys)
HGVS:
  • NC_000009.12:g.134835148G>A
  • NG_008030.1:g.198343G>A
  • NM_000093.5:c.5314G>AMANE SELECT
  • NM_001278074.1:c.5314G>A
  • NP_000084.3:p.Glu1772Lys
  • NP_000084.3:p.Glu1772Lys
  • NP_001265003.1:p.Glu1772Lys
  • LRG_737t1:c.5314G>A
  • LRG_737t2:c.5314G>A
  • LRG_737:g.198343G>A
  • LRG_737p1:p.Glu1772Lys
  • LRG_737p2:p.Glu1772Lys
  • NC_000009.11:g.137726994G>A
  • NM_000093.4:c.5314G>A
  • p.Glu1772Lys
Protein change:
E1772K
Links:
dbSNP: rs759042440
NCBI 1000 Genomes Browser:
rs759042440
Molecular consequence:
  • NM_000093.5:c.5314G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.5314G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Skeletal dysplasia
Synonyms:
Primary bone dysplasia
Identifiers:
MONDO: MONDO:0018230; MedGen: C0410528; Human Phenotype Ontology: HP:0002652
Name:
Scoliosis
Identifiers:
MONDO: MONDO:0005392; MedGen: C0036439; Human Phenotype Ontology: HP:0002650
Name:
Narrow chest
Identifiers:
MedGen: C0426790; Human Phenotype Ontology: HP:0000774
Name:
Abnormality of the lower limb
Identifiers:
MedGen: C1096086; Human Phenotype Ontology: HP:0002814
Name:
Relative macrocephaly
Identifiers:
MedGen: C1849075; Human Phenotype Ontology: HP:0004482
Name:
Neuropathic spinal arthropathy
Identifiers:
MedGen: C5702564; Human Phenotype Ontology: HP:0008443

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747300Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2017) 		unknownclinical testing

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

Help

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, SCV000747300.1

#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: Sep 29, 2024