NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 31, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001218262.2

Allele description [Variation Report for NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)]

NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)

Genes:
MFF-DT:MFF divergent transcript [Gene - HGNC]
COL4A3:collagen type IV alpha 3 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)
HGVS:
  • NC_000002.12:g.227246688G>T
  • NG_011591.1:g.87124G>T
  • NM_000091.4:c.391G>T
  • NM_000091.5:c.391G>TMANE SELECT
  • NP_000082.2:p.Glu131Ter
  • NP_000082.2:p.Glu131Ter
  • LRG_230t1:c.391G>T
  • LRG_230:g.87124G>T
  • LRG_230p1:p.Glu131Ter
  • NC_000002.11:g.228111404G>T
Protein change:
E131*
Links:
dbSNP: rs1346138010
NCBI 1000 Genomes Browser:
rs1346138010
Molecular consequence:
  • NM_000091.4:c.391G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000091.5:c.391G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001390136Invitaecriteria provided, single submitter
Pathogenic
(Mar 31, 2020)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA.

J Am Soc Nephrol. 2013 Dec;24(12):1945-54. doi: 10.1681/ASN.2012100985. Epub 2013 Sep 19.

PubMed [citation]
PMID:
24052634
PMCID:
PMC3839543

Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome.

Cosgrove D, Meehan DT, Grunkemeyer JA, Kornak JM, Sayers R, Hunter WJ, Samuelson GC.

Genes Dev. 1996 Dec 1;10(23):2981-92.

PubMed [citation]
PMID:
8956999
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV001390136.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Glu131*) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Alport syndrome (PMID: 24052634). ClinVar contains an entry for this variant (Variation ID: 558496). Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 30, 2021

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