NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 22, 2018
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:: RCV001002036.8

Allele description [Variation Report for NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)]

NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)

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.11863G>T (p.Val3955Leu)

HGVS:

NC_000001.11:g.21829512C>A
NG_016740.1:g.112746G>T
NM_001291860.2:c.11866G>T
NM_005529.7:c.11863G>TMANE SELECT
NP_001278789.1:p.Val3956Leu
NP_005520.4:p.Val3955Leu
NC_000001.10:g.22156005C>A
NM_005529.5:c.11863G>T
NM_005529.6:c.11863G>T

Protein change:

V3955L

Links:

dbSNP: rs145155624

NCBI 1000 Genomes Browser:

rs145155624

Molecular consequence:

NM_001291860.2:c.11866G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005529.7:c.11863G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001159860	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Aug 22, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001159860

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Aug 22, 2018)

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001159860.1

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

Description

The HSPG2 c.11863G>T; p.Val3955Leu variant (rs145155624), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the non-Finnish European population with an overall allele frequency of 0.029% (36/125814 alleles) in the Genome Aggregation Database. The valine at codon 3955 is weakly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Val3955Leu variant is uncertain at this time.

#	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 24, 2024

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