NM_001844.5(COL2A1):c.3062CCGTGGGTCCTCCTGGCC[4] (p.1021PVGPPG[4]) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 25, 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:: RCV001267581.2

Allele description [Variation Report for NM_001844.5(COL2A1):c.3062CCGTGGGTCCTCCTGGCC[4] (p.1021PVGPPG[4])]

NM_001844.5(COL2A1):c.3062CCGTGGGTCCTCCTGGCC[4] (p.1021PVGPPG[4])

Gene:

COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

12q13.11

Genomic location:

Preferred name:

NM_001844.5(COL2A1):c.3062CCGTGGGTCCTCCTGGCC[4] (p.1021PVGPPG[4])

HGVS:

NC_000012.12:g.47978055CACGGGGCCAGGAGGACC[4]
NG_008072.1:g.31444CCGTGGGTCCTCCTGGCC[4]
NM_001844.5:c.3062CCGTGGGTCCTCCTGGCC[4]MANE SELECT
NM_033150.3:c.2855CCGTGGGTCCTCCTGGCC[4]
NP_001835.3:p.1021PVGPPG[4]
NP_149162.2:p.952PVGPPG[4]
NC_000012.11:g.48371838CACGGGGCCAGGAGGACC[4]
NM_001844.4:c.3079_3080insCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCC

Links:

dbSNP: rs1555165335

NCBI 1000 Genomes Browser:

rs1555165335

Molecular consequence:

NM_001844.5:c.3062CCGTGGGTCCTCCTGGCC[4] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_033150.3:c.2855CCGTGGGTCCTCCTGGCC[4] - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001445763	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Oct 25, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 9724608, 26626311 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001445763

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Oct 25, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Gly-X-Y tripeptide frequencies in collagen: a context for host-guest triple-helical peptides.

Ramshaw JA, Shah NK, Brodsky B.

J Struct Biol. 1998;122(1-2):86-91. Review.

PubMed [citation]

PMID:: 9724608

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, et al.

Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2.

PubMed [citation]

PMID:: 26626311
PMCID:: PMC5070901

Details of each submission

From Ambry Genetics, SCV001445763.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Jan 7, 2023

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