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NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 7, 2015
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:
RCV000413639.3

Allele description [Variation Report for NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter)]

NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter)

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.5473C>T (p.Gln1825Ter)
HGVS:
  • NC_000009.12:g.134842259C>T
  • NG_008030.1:g.205454C>T
  • NM_000093.5:c.5473C>TMANE SELECT
  • NM_001278074.1:c.5473C>T
  • NP_000084.3:p.Gln1825Ter
  • NP_000084.3:p.Gln1825Ter
  • NP_001265003.1:p.Gln1825Ter
  • LRG_737t1:c.5473C>T
  • LRG_737t2:c.5473C>T
  • LRG_737:g.205454C>T
  • LRG_737p1:p.Gln1825Ter
  • LRG_737p2:p.Gln1825Ter
  • NC_000009.11:g.137734105C>T
  • NM_000093.3:c.5473C>T
  • NM_000093.4:c.5473C>T
Protein change:
Q1825*
Links:
dbSNP: rs1057518004
NCBI 1000 Genomes Browser:
rs1057518004
Molecular consequence:
  • NM_000093.5:c.5473C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001278074.1:c.5473C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000491352GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Dec 7, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491352.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Q1825X variant in the COL5A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The Q1825X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q1825X variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024