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NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp) AND COL4A4-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 30, 2024
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:
RCV004529202.2

Allele description [Variation Report for NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp)]

NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp)

Gene:
COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp)
HGVS:
  • NC_000002.12:g.227054732G>A
  • NG_011592.1:g.114828C>T
  • NM_000092.5:c.2722C>TMANE SELECT
  • NP_000083.3:p.Arg908Trp
  • NP_000083.3:p.Arg908Trp
  • LRG_231t1:c.2722C>T
  • LRG_231:g.114828C>T
  • LRG_231p1:p.Arg908Trp
  • NC_000002.11:g.227919448G>A
  • NM_000092.4:c.2722C>T
Protein change:
R908W
Molecular consequence:
  • NM_000092.5:c.2722C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
COL4A4-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004109154PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(May 30, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004109154.2

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

Description

The COL4A4 c.2722C>T variant is predicted to result in the amino acid substitution p.Arg908Trp. This variant has been reported as a variant of uncertain significance in a daughter with hematuria, but was not detected in the similarly affected father (Slajpah et al. 2007. PubMed ID: 17396119). This variant is reported in 0.038% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 26, 2024