NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) AND Multiple congenital anomalies/dysmorphic syndrome

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 28, 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:: RCV005625512.1

Allele description [Variation Report for NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)]

NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)

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.4601C>G (p.Pro1534Arg)

HGVS:

NC_000001.11:g.21864868G>C
NG_016740.1:g.77390C>G
NM_001291860.2:c.4604C>G
NM_005529.7:c.4601C>GMANE SELECT
NP_001278789.1:p.Pro1535Arg
NP_005520.4:p.Pro1534Arg
NC_000001.10:g.22191361G>C
NM_005529.5:c.4601C>G
NM_005529.6:c.4601C>G

Protein change:

P1534R

Links:

dbSNP: rs142736845

Molecular consequence:

NM_001291860.2:c.4604C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005529.7:c.4601C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Multiple congenital anomalies/dysmorphic syndrome
Identifiers:: MONDO: MONDO:0019042; MedGen: C5681310

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV006306939	Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	criteria provided, single submitter (ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020)	Benign (Jun 28, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV006306939

Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service

criteria provided, single submitter

(ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020)

Benign
(Jun 28, 2019)

germline

clinical testing

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

Details of each submission

From Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service, SCV006306939.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	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: Apr 12, 2026

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