NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu) AND Alport syndrome, autosomal recessive

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001391172.1

Allele description [Variation Report for NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu)]

NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu)

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.3575G>A (p.Gly1192Glu)
HGVS:
  • NC_000002.12:g.227297683G>A
  • NG_011591.1:g.138119G>A
  • NM_000091.4:c.3575G>A
  • NM_000091.5:c.3575G>AMANE SELECT
  • NP_000082.2:p.Gly1192Glu
  • NP_000082.2:p.Gly1192Glu
  • LRG_230t1:c.3575G>A
  • LRG_230:g.138119G>A
  • LRG_230p1:p.Gly1192Glu
  • NC_000002.11:g.228162399G>A
Protein change:
G1192E
Links:
dbSNP: rs1574823172
NCBI 1000 Genomes Browser:
rs1574823172
Molecular consequence:
  • NM_000091.4:c.3575G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000091.5:c.3575G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001593070Precision Medicine Center,Zhengzhou Universitycriteria provided, single submitter
Likely pathogenicgermlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Precision Medicine Center,Zhengzhou University, SCV001593070.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

PM1:Located in a mutational hot spot PM2:not found in gnomAD PP2:Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product

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

Last Updated: Oct 25, 2021

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