NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 18, 2017
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:: RCV000623306.2

Allele description [Variation Report for NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala)]

NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala)

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.3077G>C (p.Gly1026Ala)

HGVS:

NC_000012.12:g.47978044C>G
NG_008072.1:g.31459G>C
NM_001844.5:c.3077G>CMANE SELECT
NM_033150.3:c.2870G>C
NP_001835.3:p.Gly1026Ala
NP_149162.2:p.Gly957Ala
NC_000012.11:g.48371827C>G
NM_001844.4:c.3077G>C

Protein change:

G1026A

Links:

dbSNP: rs1555165336

NCBI 1000 Genomes Browser:

rs1555165336

Molecular consequence:

NM_001844.5:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033150.3:c.2870G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

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2592601[uid] (1)
Taxonomy
PREDICTED: GPI mannosyltransferase 4 [Bison bison bison]
PREDICTED: GPI mannosyltransferase 4 [Bison bison bison]
gi|742094580|ref|XP_010832667.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742774	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Oct 18, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15895462, 23079993 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742774

Ambry Genetics

criteria provided, single submitter

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

Likely pathogenic
(Oct 18, 2017)

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

The phenotypic spectrum of COL2A1 mutations.

Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S.

Hum Mutat. 2005 Jul;26(1):36-43.

PubMed [citation]

PMID:: 15895462

Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia.

Cao LH, Wang L, Ji CY, Wang LB, Ma HW, Luo Y.

Genet Mol Res. 2012 Dec 3;11(4):4130-7. doi: 10.4238/2012.September.27.1.

PubMed [citation]

PMID:: 23079993

Details of each submission

From Ambry Genetics, SCV000742774.3

#	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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