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NM_033380.3(COL4A5):c.1717G>A (p.Gly573Ser) AND COL4A5-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 18, 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:
RCV003420861.5

Allele description [Variation Report for NM_033380.3(COL4A5):c.1717G>A (p.Gly573Ser)]

NM_033380.3(COL4A5):c.1717G>A (p.Gly573Ser)

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_033380.3(COL4A5):c.1717G>A (p.Gly573Ser)
HGVS:
  • NC_000023.11:g.108597506G>A
  • NG_011977.2:g.162583G>A
  • NM_000495.5:c.1717G>A
  • NM_033380.3:c.1717G>AMANE SELECT
  • NP_000486.1:p.Gly573Ser
  • NP_203699.1:p.Gly573Ser
  • LRG_232t1:c.1717G>A
  • LRG_232t2:c.1717G>A
  • LRG_232:g.162583G>A
  • LRG_232p1:p.Gly573Ser
  • LRG_232p2:p.Gly573Ser
  • NC_000023.10:g.107840736G>A
  • NM_000495.4:c.1717G>A
Protein change:
G573S
Molecular consequence:
  • NM_000495.5:c.1717G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.1717G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
COL4A5-related disorder
Synonyms:
COL4A5-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004113525PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 18, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 PreventionGenetics, part of Exact Sciences, SCV004113525.1

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

Description

The COL4A5 c.1717G>A variant is predicted to result in the amino acid substitution p.Gly573Ser. This variant was reported in the hemizygous state in a patient with Alport syndrome (Zhao et al 2019. PubMed ID: 30968591). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. The p.Gly573 residue resides in the triple-helical region (residues 42 – 1456) of the COL4A5 protein (uniprot.org). The majority of pathogenic variants in COL4A5 substitute a glycine residue to a bulkier amino acid in the triple-helical domain (Hudson et al. 1993. PubMed ID: 8253711; https://www.ncbi.nlm.nih.gov/books/NBK1207/). We classify this variant as likely pathogenic.

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

Last Updated: Jun 23, 2024