NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) AND Connective tissue disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 1, 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:: RCV002278375.4

Allele description [Variation Report for NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=)]

NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=)

Gene:

HSPG2:heparan sulfate proteoglycan 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

Preferred name:

NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=)

HGVS:

NC_000001.11:g.21873960C>T
NG_016740.1:g.68298G>A
NM_001291860.2:c.3711G>A
NM_005529.7:c.3708G>AMANE SELECT
NP_001278789.1:p.Ala1237=
NP_005520.4:p.Ala1236=
NC_000001.10:g.22200453C>T
NM_005529.5:c.3708G>A
NM_005529.6:c.3708G>A

Links:

dbSNP: rs202214491

NCBI 1000 Genomes Browser:

rs202214491

Molecular consequence:

NM_001291860.2:c.3711G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_005529.7:c.3708G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Connective tissue disorder
Synonyms:: Connective tissue disease
Identifiers:: MONDO: MONDO:0003900; MedGen: C0009782

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002566761	Genome Diagnostics Laboratory, The Hospital for Sick Children	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jun 1, 2019)	germline	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

SCV002566761

Genome Diagnostics Laboratory, The Hospital for Sick Children

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jun 1, 2019)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002566761.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 18, 2024

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