NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser) AND Hypochondrogenesis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 5, 1989
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:: RCV000018895.27

Allele description [Variation Report for NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser)]

NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser)

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.3220G>A (p.Gly1074Ser)

Other names:

G943S

HGVS:

NC_000012.12:g.47977373C>T
NG_008072.1:g.32130G>A
NM_001844.5:c.3220G>AMANE SELECT
NM_033150.3:c.3013G>A
NP_001835.3:p.Gly1074Ser
NP_149162.2:p.Gly1005Ser
NC_000012.11:g.48371156C>T

Protein change:

G1005S; GLY943SER

Links:

OMIM: 120140.0002; dbSNP: rs121912864

NCBI 1000 Genomes Browser:

rs121912864

Molecular consequence:

NM_001844.5:c.3220G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033150.3:c.3013G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypochondrogenesis
Identifiers:: MONDO: MONDO:0019669; MedGen: C0542428

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039179	OMIM	no assertion criteria provided	Pathogenic (Nov 5, 1989)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 3195588, 2572591

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000039179

OMIM

no assertion criteria provided

Pathogenic
(Nov 5, 1989)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.

Godfrey M, Hollister DW.

Am J Hum Genet. 1988 Dec;43(6):904-13.

PubMed [citation]

PMID:: 3195588
PMCID:: PMC1715608

Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.

Vissing H, D'Alessio M, Lee B, Ramirez F, Godfrey M, Hollister DW.

J Biol Chem. 1989 Nov 5;264(31):18265-7.

PubMed [citation]

PMID:: 2572591

Details of each submission

From OMIM, SCV000039179.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a patient described by Godfrey and Hollister (1988) with 'a relatively mild case of type II achondrogenesis-hypochondrogenesis' (see 200610), Vissing et al. (1989) demonstrated heterozygosity for a G-to-A transition in exon 46 of the COL2A1 gene that converted glycine-943 to serine (G943S). The substitution disrupted the invariant Gly-X-Y structural motif necessary for perfect helix formation and led to an excessive overmodification, intracellular retention, and reduced secretion of type II collagen.

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

Last Updated: Apr 23, 2022

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