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NM_000092.5(COL4A4):c.2842G>T (p.Gly948Ter) AND COL4A4-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 5, 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:
RCV004531197.2

Allele description [Variation Report for NM_000092.5(COL4A4):c.2842G>T (p.Gly948Ter)]

NM_000092.5(COL4A4):c.2842G>T (p.Gly948Ter)

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.2842G>T (p.Gly948Ter)
HGVS:
  • NC_000002.12:g.227054612C>A
  • NG_011592.1:g.114948G>T
  • NM_000092.4:c.2842G>T
  • NM_000092.5:c.2842G>TMANE SELECT
  • NP_000083.3:p.Gly948Ter
  • LRG_231t1:c.2842G>T
  • LRG_231:g.114948G>T
  • NC_000002.11:g.227919328C>A
Protein change:
G948*
Links:
dbSNP: rs2150219679
NCBI 1000 Genomes Browser:
rs2150219679
Molecular consequence:
  • NM_000092.5:c.2842G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004743276PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Feb 5, 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, SCV004743276.2

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

Description

The COL4A4 c.2842G>T variant is predicted to result in premature protein termination (p.Gly948*). This variant was reported in the heterozygous state without a second potentially causative variant in an individual with focal and secondary glomerulosclerosis (Hines et al. 2018. PubMed ID: 30002862. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in COL4A4 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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

Last Updated: Nov 3, 2024