NM_033380.3(COL4A5):c.3128_3134del (p.Pro1043fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 6, 2022
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:: RCV003685364.2

Allele description [Variation Report for NM_033380.3(COL4A5):c.3128_3134del (p.Pro1043fs)]

NM_033380.3(COL4A5):c.3128_3134del (p.Pro1043fs)

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.3128_3134del (p.Pro1043fs)

HGVS:

NC_000023.11:g.108626231_108626237del
NG_011977.2:g.191308_191314del
NM_000495.5:c.3128_3134del
NM_033380.3:c.3128_3134delMANE SELECT
NP_000486.1:p.Pro1043fs
NP_203699.1:p.Pro1043fs
LRG_232t1:c.3128_3134del
LRG_232t2:c.3128_3134del
LRG_232:g.191308_191314del
LRG_232p1:p.Pro1043fs
LRG_232p2:p.Pro1043fs
NC_000023.10:g.107869461_107869467del

Protein change:

P1043fs

Molecular consequence:

NM_000495.5:c.3128_3134del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033380.3:c.3128_3134del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004409035	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 6, 2022)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 9195222, 10752524, 14514738, 24854265, 26809805, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004409035

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 6, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV004409035.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with COL4A5-related conditions. This sequence change creates a premature translational stop signal (p.Pro1043Hisfs*107) in the COL4A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A5 are known to be pathogenic (PMID: 9195222, 10752524, 14514738, 24854265, 26809805).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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