NM_000092.4(COL4A4):c.1033delG AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 10, 2018
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:: RCV000657553.10

Allele description [Variation Report for NM_000092.4(COL4A4):c.1033delG]

NM_000092.4(COL4A4):c.1033delG

Gene:

COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q36.3

Genomic location:

Preferred name:

NM_000092.4(COL4A4):c.1033delG

HGVS:

NC_000002.12:g.227099690del
NG_011592.1:g.69874del
LRG_231t1:c.1033del
LRG_231:g.69874del
NC_000002.11:g.227964406del
NM_000092.4:c.1033delG

Links:

dbSNP: rs1553681700

NCBI 1000 Genomes Browser:

rs1553681700

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
SCV000779289	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (May 10, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000779289

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(May 10, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000779289.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.1033delG variant in the COL4A4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1033delG variant causes a frameshift starting with codon Aspartic Acid 345, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Asp345IlefsX15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1033delG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1033delG as a likely pathogenic variant.

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

Last Updated: Apr 20, 2024

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