NM_001846.4(COL4A2):c.1395del (p.Gly466fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 31, 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:: RCV003123231.3

Allele description [Variation Report for NM_001846.4(COL4A2):c.1395del (p.Gly466fs)]

NM_001846.4(COL4A2):c.1395del (p.Gly466fs)

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.1395del (p.Gly466fs)

HGVS:

NC_000013.11:g.110457398del
NG_032137.1:g.155115del
NM_001846.2:c.1395del
NM_001846.4:c.1395delMANE SELECT
NP_001837.2:p.Gly466fs
NC_000013.10:g.111109745del

Protein change:

G466fs

Links:

dbSNP: rs747549182

NCBI 1000 Genomes Browser:

rs747549182

Molecular consequence:

NM_001846.4:c.1395del - 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
SCV003798956	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 31, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003798956

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 31, 2022)

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, SCV003798956.2

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

#	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: Nov 11, 2023

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Relating variation to medicine