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NM_001846.4(COL4A2):c.1359del (p.Gly454fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 21, 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:
RCV003677406.1

Allele description [Variation Report for NM_001846.4(COL4A2):c.1359del (p.Gly454fs)]

NM_001846.4(COL4A2):c.1359del (p.Gly454fs)

Genes:
COL4A2-AS2:COL4A2 antisense RNA 2 [Gene - HGNC]
COL4A2:collagen type IV alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_001846.4(COL4A2):c.1359del (p.Gly454fs)
HGVS:
  • NC_000013.11:g.110457362del
  • NG_032137.1:g.155079del
  • NG_032137.2:g.155080del
  • NM_001846.4:c.1359delMANE SELECT
  • NP_001837.2:p.Gly454fs
  • NC_000013.10:g.111109707del
  • NC_000013.10:g.111109709del
Protein change:
G454fs
Molecular consequence:
  • NM_001846.4:c.1359del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004404288Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 21, 2022) 		germlineclinical testing

PubMed (3)
[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

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM.

Eur J Hum Genet. 2012 Aug;20(8):844-51. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15.

PubMed [citation]
PMID:
22333902
PMCID:
PMC3400734

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N.

Eur J Med Genet. 2018 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11.

PubMed [citation]
PMID:
30315939
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004404288.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with COL4A2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly454Glufs*117) in the COL4A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A2 are known to be pathogenic (PMID: 22333902, 30315939).

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

Last Updated: Feb 28, 2024