NM_004370.6(COL12A1):c.2983+5G>A AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 23, 2017
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:: RCV000485523.1

Allele description [Variation Report for NM_004370.6(COL12A1):c.2983+5G>A]

NM_004370.6(COL12A1):c.2983+5G>A

Gene:

COL12A1:collagen type XII alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q13

Genomic location:

Preferred name:

NM_004370.6(COL12A1):c.2983+5G>A

HGVS:

NC_000006.12:g.75165502C>T
NG_042181.1:g.45406G>A
NM_004370.6:c.2983+5G>AMANE SELECT
NM_080645.3:c.74-13020G>A
NC_000006.11:g.75875218C>T
NM_004370.5:c.2983+5G>A

Links:

dbSNP: rs1064794720

NCBI 1000 Genomes Browser:

rs1064794720

Molecular consequence:

NM_004370.6:c.2983+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_080645.3:c.74-13020G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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RecName: Full=Uncharacterized protein C4orf19
RecName: Full=Uncharacterized protein C4orf19
gi|74728286|sp|Q8IY42.1|CD019_HUMAN

Protein
Homo sapiens mRNA for INADL, C-term variant3
Homo sapiens mRNA for INADL, C-term variant3
gi|2950383|emb|AJ224748.1|

Nucleotide
LDBPK_343570 [Leishmania donovani]
LDBPK_343570 [Leishmania donovani]
Gene ID:13387395

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000569794	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Mar 23, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000569794

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Mar 23, 2017)

germline

clinical testing

Citation Link

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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, SCV000569794.4

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

Description

The c.2983+5G>A variant in the COL12A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice donor site in intron 14, and may cause abnormal gene splicing. The c.2983+5G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2983+5G>A as a variant of uncertain significance.

#	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: Mar 5, 2024

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