NM_001844.5(COL2A1):c.970-6T>C AND Spondyloepiphyseal dysplasia, Stanescu type

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 27, 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:: RCV002287538.2

Allele description

NM_001844.5(COL2A1):c.970-6T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.11

Genomic location:

Preferred name:

NM_001844.5(COL2A1):c.970-6T>C

HGVS:

NC_000012.12:g.47992937A>G
NG_008072.1:g.16566T>C
NM_001844.5:c.970-6T>CMANE SELECT
NM_033150.3:c.763-6T>C
NC_000012.11:g.48386720A>G

Molecular consequence:

NM_001844.5:c.970-6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_033150.3:c.763-6T>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Spondyloepiphyseal dysplasia, Stanescu type
Synonyms:: SED, STANESCU TYPE; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STANESCU TYPE
Identifiers:: MONDO: MONDO:0014701; MedGen: C4225273; OMIM: 616583

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002578155	Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin See additional submitters CUBI - Core Unit Bioinformatics, Berlin Institute of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 27, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002578155

Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 27, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, SCV002578155.1

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

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

Last Updated: Dec 9, 2023

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