NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) AND Spondyloepimetaphyseal dysplasia, Strudwick type

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 9, 2019
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:: RCV001027723.10

Allele description [Variation Report for NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)]

NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)

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.905C>T (p.Ala302Val)

HGVS:

NC_000012.12:g.47993828G>A
NG_008072.1:g.15675C>T
NM_001844.5:c.905C>TMANE SELECT
NM_033150.3:c.698C>T
NP_001835.3:p.Ala302Val
NP_149162.2:p.Ala233Val
NC_000012.11:g.48387611G>A
NM_001844.4:c.905C>T

Protein change:

A233V

Links:

dbSNP: rs1555168505

NCBI 1000 Genomes Browser:

rs1555168505

Molecular consequence:

NM_001844.5:c.905C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_033150.3:c.698C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)
Synonyms:: Dappled metaphysis syndrome; Strudwick syndrome; SMED Strudwick type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008476; MedGen: C0700635; Orphanet: 93346; OMIM: 184250

Recent activity

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pulmonary surfactant-associated protein D-like [Salmo trutta]
pulmonary surfactant-associated protein D-like [Salmo trutta]
gi|1696143072|ref|XP_029610147.1|

Protein
GSDMA gasdermin A [Homo sapiens]
GSDMA gasdermin A [Homo sapiens]
Gene ID:284110

Gene
284110[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001190308	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 9, 2019)	unknown	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

SCV001190308

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 9, 2019)

unknown

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Facile, rapid, and large-area periodic patterning of semiconductor substrates with submicron inorganic structures.

Kempa TJ, Bediako DK, Jones EC, Lieber CM, Nocera DG.

J Am Chem Soc. 2015 Mar 25;137(11):3739-42. doi: 10.1021/ja5118717. Epub 2015 Mar 12.

PubMed [citation]

PMID:: 25741869

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001190308.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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