NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) AND COL2A1-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 25, 2020
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:: RCV004544528.2

Allele description [Variation Report for NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)]

NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)

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.3047G>A (p.Arg1016Lys)

HGVS:

NC_000012.12:g.47978074C>T
NG_008072.1:g.31429G>A
NM_001844.5:c.3047G>AMANE SELECT
NM_033150.3:c.2840G>A
NP_001835.3:p.Arg1016Lys
NP_149162.2:p.Arg947Lys
NC_000012.11:g.48371857C>T
NM_001844.4:c.3047G>A

Protein change:

R1016K

Links:

dbSNP: rs146046296

NCBI 1000 Genomes Browser:

rs146046296

Molecular consequence:

NM_001844.5:c.3047G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033150.3:c.2840G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: COL2A1-related disorder
Synonyms:: COL2A1-related condition; COL2A1-related disorders
Identifiers:

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di-N-acetylchitobiase isoform X2 [Latimeria chalumnae]
di-N-acetylchitobiase isoform X2 [Latimeria chalumnae]
gi|942137747|ref|XP_014342636.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004782778	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Feb 25, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004782778

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Feb 25, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004782778.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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

Last Updated: Nov 3, 2024

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