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NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr) AND Alport syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 20, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001195691.1

Allele description [Variation Report for NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)]

NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)

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.494T>C (p.Ile165Thr)
HGVS:
  • NC_000002.12:g.227248468T>C
  • NG_011591.1:g.88904T>C
  • NM_000091.5:c.494T>CMANE SELECT
  • NP_000082.2:p.Ile165Thr
  • LRG_230t1:c.494T>C
  • LRG_230:g.88904T>C
  • NC_000002.11:g.228113184T>C
  • NM_000091.4:c.494T>C
Protein change:
I165T
Links:
dbSNP: rs144036466
NCBI 1000 Genomes Browser:
rs144036466
Molecular consequence:
  • NM_000091.5:c.494T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Alport syndrome
Synonyms:
Hemorrhagic familial nephritis; Hemorrhagic hereditary nephritis; Congenital hereditary hematuria
Identifiers:
MONDO: MONDO:0018965; MedGen: C1567741; OMIM: PS301050

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001366095UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Feb 20, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not 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 UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill, SCV001366095.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing
(GTR000576397.1)
PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided
(GTR000576397.1)
1not provided1not provided

Last Updated: Sep 29, 2024