NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs) AND Alport syndrome, autosomal recessive

Clinical significance:Pathogenic (Last evaluated: May 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001171499.1

Allele description [Variation Report for NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)]

NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)

Gene:
COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)
HGVS:
  • NC_000002.12:g.227008223_227008224del
  • NG_011592.1:g.161336_161337del
  • NM_000092.5:c.4603_4604delMANE SELECT
  • NP_000083.3:p.Gln1535fs
  • LRG_231t1:c.4603_4604del
  • LRG_231:g.161336_161337del
  • NC_000002.11:g.227872939_227872940del
  • NM_000092.4:c.4603_4604del
  • p.Q1535fs
Protein change:
Q1535fs
Molecular consequence:
  • NM_000092.5:c.4603_4604del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001305364Cavalleri Lab, Royal College of Surgeons in Irelandcriteria provided, single submitter
Pathogenic
(May 27, 2020)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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 Cavalleri Lab, Royal College of Surgeons in Ireland, SCV001305364.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 12, 2021

Support Center