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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:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000742774Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Likely pathogenic
(Oct 18, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jan 7, 2023