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NM_000093.5(COL5A1):c.1590C>T (p.Gly530=) AND Fibromuscular dysplasia, multifocal

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 15, 2022
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:
RCV002269975.8

Allele description [Variation Report for NM_000093.5(COL5A1):c.1590C>T (p.Gly530=)]

NM_000093.5(COL5A1):c.1590C>T (p.Gly530=)

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.1590C>T (p.Gly530=)
Other names:
p.G530G:GGC>GGT
HGVS:
  • NC_000009.12:g.134750810C>T
  • NG_008030.1:g.114005C>T
  • NM_000093.5:c.1590C>TMANE SELECT
  • NM_001278074.1:c.1590C>T
  • NP_000084.3:p.Gly530=
  • NP_000084.3:p.Gly530=
  • NP_001265003.1:p.Gly530=
  • LRG_737t1:c.1590C>T
  • LRG_737t2:c.1590C>T
  • LRG_737:g.114005C>T
  • LRG_737p1:p.Gly530=
  • LRG_737p2:p.Gly530=
  • NC_000009.11:g.137642656C>T
  • NM_000093.3:c.1590C>T
  • NM_000093.4:c.1590C>T
  • NM_000093.5:c.1590C>T
Links:
dbSNP: rs769010469
NCBI 1000 Genomes Browser:
rs769010469
Molecular consequence:
  • NM_000093.5:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278074.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Fibromuscular dysplasia, multifocal
Identifiers:
MONDO: MONDO:0859151; MedGen: C5543412; OMIM: 619329

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002554113Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Mar 15, 2022) 		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 Genome-Nilou Lab, SCV002554113.1

#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: Nov 10, 2024