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NM_000091.5(COL4A3):c.833dup (p.Pro279fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000490447.2

Allele description [Variation Report for NM_000091.5(COL4A3):c.833dup (p.Pro279fs)]

NM_000091.5(COL4A3):c.833dup (p.Pro279fs)

Genes:
MFF-DT:MFF divergent transcript [Gene - HGNC]
COL4A3:collagen type IV alpha 3 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_000091.5(COL4A3):c.833dup (p.Pro279fs)
HGVS:
  • NC_000002.12:g.227254660dup
  • NG_011591.1:g.95096dup
  • NM_000091.5:c.833dupMANE SELECT
  • NP_000082.2:p.Pro279fs
  • NP_000082.2:p.Pro279fs
  • LRG_230t1:c.833dup
  • LRG_230:g.95096dup
  • LRG_230p1:p.Pro279fs
  • NC_000002.11:g.228119375_228119376insT
  • NC_000002.11:g.228119376dup
  • NM_000091.4:c.833dup
  • NM_000091.4:c.833dupT
Protein change:
P279fs
Links:
dbSNP: rs1363680371
NCBI 1000 Genomes Browser:
rs1363680371
Molecular consequence:
  • NM_000091.5:c.833dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal dominant Alport syndrome (ATS3A)
Synonyms:
Alport syndrome dominant type; Renal failure and sensorineural hearing loss; ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT
Identifiers:
MONDO: MONDO:0007086; MedGen: C5882663; Orphanet: 63; Orphanet: 88918; OMIM: 104200
Name:
Autosomal recessive Alport syndrome (ATS2)
Synonyms:
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; COL4A4 Alport Syndrome and Thin Basement Membrane Nephropathy
Identifiers:
MONDO: MONDO:0008762; MedGen: C4746745; Orphanet: 63; Orphanet: 88919; OMIM: 203780
Name:
Benign familial hematuria
Identifiers:
MONDO: MONDO:0957317; MedGen: C0241908; OMIM: PS141200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267265Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 18, 2016) 		germlinereference population

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

The clinical spectrum of type IV collagen mutations.

Lemmink HH, Schröder CH, Monnens LA, Smeets HJ.

Hum Mutat. 1997;9(6):477-99. Review.

PubMed [citation]
PMID:
9195222

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 Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267265.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: May 16, 2025