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NM_033380.3(COL4A5):c.671G>T (p.Gly224Val) AND X-linked Alport syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 26, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001353348.3

Allele description

NM_033380.3(COL4A5):c.671G>T (p.Gly224Val)

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.671G>T (p.Gly224Val)
HGVS:
  • NC_000023.11:g.108578103G>T
  • NG_011977.2:g.143180G>T
  • NM_000495.5:c.671G>T
  • NM_033380.3:c.671G>TMANE SELECT
  • NP_000486.1:p.Gly224Val
  • NP_203699.1:p.Gly224Val
  • LRG_232t1:c.671G>T
  • LRG_232t2:c.671G>T
  • LRG_232:g.143180G>T
  • LRG_232p1:p.Gly224Val
  • LRG_232p2:p.Gly224Val
  • NC_000023.10:g.107821333G>T
Protein change:
G224V
Links:
dbSNP: rs2147770618
NCBI 1000 Genomes Browser:
rs2147770618
Molecular consequence:
  • NM_000495.5:c.671G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.671G>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
protein truncation [Variation Ontology: 0015]
Observations:
1

Condition(s)

Name:
X-linked Alport syndrome (ATS1)
Synonyms:
NEPHROPATHY AND DEAFNESS, X-LINKED; Alport Syndrome and Thin Basement Membrane Nephropathy
Identifiers:
MONDO: MONDO:0010520; MedGen: C4746986; Orphanet: 63; Orphanet: 88917; OMIM: 301050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001548363HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)
no assertion criteria provided
Likely pathogenic
(Dec 26, 2017) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP), SCV001548363.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided

Description

The c.671G>T variant, located in coding exon 12 of the COL4A5 gene (NM_000495.5), results from a G to T substitution at nucleotide position 671. The glycine at codon 224 is replaced by valine p.Gly224Val. This alteration has not been reported previously in the literature and it is not detected in general population. The variant is found in a region of the protein where more than 93% of amino acid changes are considered pathological. Therefore, the clinical significance of the c.671G>T variant is likely pathogenic.

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

Last Updated: Mar 22, 2025