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

Clinical significance:Pathogenic (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000763077.1

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_000091.5: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
  • NM_000091.4:c.391G>T
Protein change:
E131*
Links:
dbSNP: rs1346138010
NCBI 1000 Genomes Browser:
rs1346138010
Molecular consequence:
  • NM_000091.5:c.391G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Alport syndrome 3, autosomal dominant (ATS3)
Synonyms:
Alport syndrome dominant type; Renal failure and sensorineural hearing loss
Identifiers:
MONDO: MONDO:0007086; MedGen: C4746547; Orphanet: 63; Orphanet: 88918; OMIM: 104200
Name:
Alport syndrome, autosomal recessive (ATS2)
Synonyms:
Alport syndrome recessive type; Nephropathy and deafness; ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008762; MedGen: C4746745; Orphanet: 63; Orphanet: 88919; OMIM: 203780
Name:
Benign familial hematuria (BFH)
Synonyms:
THIN MEMBRANE NEPHROPATHY; Thin basement membrane nephropathy
Identifiers:
MONDO: MONDO:0007709; MedGen: C0241908; OMIM: 141200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000893589Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Pathogenic
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics,Fulgent Genetics, SCV000893589.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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