NM_004370.6(COL12A1):c.9114dup (p.Gly3039fs) AND Abnormality of connective tissue

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000850300.1

Allele description [Variation Report for NM_004370.6(COL12A1):c.9114dup (p.Gly3039fs)]

NM_004370.6(COL12A1):c.9114dup (p.Gly3039fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

6q13

Genomic location:

Preferred name:

NM_004370.6(COL12A1):c.9114dup (p.Gly3039fs)

HGVS:

NC_000006.12:g.75087644dup
NG_042181.1:g.123264dup
NM_004370.6:c.9114dupMANE SELECT
NM_080645.3:c.5622dup
NP_004361.3:p.Gly3039fs
NP_542376.2:p.Gly1875fs
NC_000006.11:g.75797360dup

Protein change:

G1875fs

Links:

dbSNP: rs1582025807

NCBI 1000 Genomes Browser:

rs1582025807

Molecular consequence:

NM_004370.6:c.9114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_080645.3:c.5622dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Abnormality of connective tissue
Identifiers:: MedGen: C4025596; Human Phenotype Ontology: HP:0003549

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000992475	Institute of Human Genetics, University of Wuerzburg	no assertion criteria provided	Likely pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000992475

Institute of Human Genetics, University of Wuerzburg

no assertion criteria provided

Likely pathogenic

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV000992475.1

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

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

Last Updated: Apr 23, 2022

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