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NM_033380.3(COL4A5):c.67_81+1del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 6, 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:
RCV001385909.5

Allele description [Variation Report for NM_033380.3(COL4A5):c.67_81+1del]

NM_033380.3(COL4A5):c.67_81+1del

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_033380.3(COL4A5):c.67_81+1del
HGVS:
  • NC_000023.11:g.108440192_108440207del
  • NG_011977.2:g.5269_5284del
  • NG_012059.2:g.4269_4284del
  • NM_000495.5:c.67_81+1del
  • NM_033380.3:c.67_81+1delMANE SELECT
  • LRG_232t1:c.67_81+1del
  • LRG_232t2:c.67_81+1del
  • LRG_232:g.5269_5284del
  • LRG_233:g.4269_4284del
  • NC_000023.10:g.107683421_107683436del
  • NC_000023.10:g.107683422_107683437del
Links:
dbSNP: rs2147448071
NCBI 1000 Genomes Browser:
rs2147448071
Molecular consequence:
  • NM_000495.5:c.67_81+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033380.3:c.67_81+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001585927Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 6, 2020) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, et al.

J Am Soc Nephrol. 2000 Apr;11(4):649-657. doi: 10.1681/ASN.V114649.

PubMed [citation]
PMID:
10752524
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001585927.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL4A5 are known to be pathogenic (PMID: 9195222, 10752524, 14514738, 24854265, 26809805). This variant has not been reported in the literature in individuals with COL4A5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro23Leufs*16) in the COL4A5 gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Sep 29, 2024