NM_001844.5(COL2A1):c.970-6T>C AND not specified

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

Germline classification:: no classifications from unflagged records (1 submission)
Review status:: no classifications from unflagged records

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:: RCV002285098.3

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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No clinical assertions found. See "Flagged submissions" below.

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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, SCV002574854.1

#	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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002574854	Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin See additional submitters CUBI - Core Unit Bioinformatics, Berlin Institute of Health	flagged submission Reason: This record appears to be redundant with a more recent record from the same submitter. Notes: SCV002574854 appears to be redundant with SCV002578155. (ACMG Guidelines, 2015)	Uncertain significance (Sep 22, 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

SCV002574854

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

See additional submitters

flagged submission

Reason: This record appears to be redundant with a more recent record from the same submitter.

Notes: SCV002574854 appears to be redundant with SCV002578155.

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 22, 2022)

germline

clinical testing

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

Last Updated: Dec 9, 2023

ClinVar

Relating variation to medicine