NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) AND Cardiovascular phenotype

Clinical significance:Likely benign (Last evaluated: Sep 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000619401.2

Allele description [Variation Report for NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)]

NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)

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.514G>T (p.Val172Phe)
Other names:
p.V172F:GTC>TTC
HGVS:
  • NC_000009.12:g.134701193G>T
  • NG_008030.1:g.64388G>T
  • NM_000093.5:c.514G>TMANE SELECT
  • NM_001278074.1:c.514G>T
  • NP_000084.3:p.Val172Phe
  • NP_000084.3:p.Val172Phe
  • NP_001265003.1:p.Val172Phe
  • LRG_737t1:c.514G>T
  • LRG_737t2:c.514G>T
  • LRG_737:g.64388G>T
  • LRG_737p1:p.Val172Phe
  • LRG_737p2:p.Val172Phe
  • NC_000009.11:g.137593039G>T
  • NM_000093.3:c.514G>T
  • NM_000093.4:c.514G>T
Protein change:
V172F
Links:
dbSNP: rs150147262
NCBI 1000 Genomes Browser:
rs150147262
Molecular consequence:
  • NM_000093.5:c.514G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.514G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000738565Ambry Geneticscriteria provided, single submitter
Likely benign
(Sep 30, 2020)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases.

Junkiert-Czarnecka A, Pilarska-Deltow M, Bąk A, Heise M, Haus O.

Postepy Dermatol Alergol. 2019 Feb;36(1):29-33. doi: 10.5114/ada.2018.79440. Epub 2019 Feb 22.

PubMed [citation]
PMID:
30858776
PMCID:
PMC6409875

Rare genetic variants in patients with cervical artery dissection.

Traenka C, Kloss M, Strom T, Lyrer P, Brandt T, Bonati LH, Grond-Ginsbach C, Engelter S.

Eur Stroke J. 2019 Dec;4(4):355-362. doi: 10.1177/2396987319861869. Epub 2019 Jul 12.

PubMed [citation]
PMID:
31903434
PMCID:
PMC6921947

Details of each submission

From Ambry Genetics, SCV000738565.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

In silico models in agreement (benign);Subpopulation frequency in support of benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021

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