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NM_033380.3(COL4A5):c.3078dup (p.Gly1027fs) AND X-linked Alport syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2023
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:
RCV004577581.1

Allele description [Variation Report for NM_033380.3(COL4A5):c.3078dup (p.Gly1027fs)]

NM_033380.3(COL4A5):c.3078dup (p.Gly1027fs)

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_033380.3(COL4A5):c.3078dup (p.Gly1027fs)
HGVS:
  • NC_000023.11:g.108625766dup
  • NG_011977.2:g.190843dup
  • NM_000495.5:c.3078dup
  • NM_033380.3:c.3078dupMANE SELECT
  • NP_000486.1:p.Gly1027fs
  • NP_203699.1:p.Gly1027fs
  • LRG_232t1:c.3078dup
  • LRG_232t2:c.3078dup
  • LRG_232:g.190843dup
  • LRG_232p1:p.Gly1027fs
  • LRG_232p2:p.Gly1027fs
  • NC_000023.10:g.107868996dup
Protein change:
G1027fs
Molecular consequence:
  • NM_000495.5:c.3078dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033380.3:c.3078dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
X-linked Alport syndrome (ATS1)
Synonyms:
NEPHROPATHY AND DEAFNESS, X-LINKED; Alport syndrome 1, X-linked recessive; Alport Syndrome and Thin Basement Membrane Nephropathy
Identifiers:
MONDO: MONDO:0010520; MedGen: C4746986; Orphanet: 63; Orphanet: 88917; OMIM: 301050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004218425Precision Medicine Center, Zhengzhou University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 1, 2023) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot 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 Precision Medicine Center, Zhengzhou University, SCV004218425.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

PVS1,PM2_p,PP4

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

Last Updated: Jun 29, 2024