NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 9, 2023
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:
RCV003164038.2

Allele description [Variation Report for NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr)]

NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr)

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.7198G>A (p.Ala2400Thr)
HGVS:
  • NC_000001.11:g.21850459C>T
  • NG_016740.1:g.91799G>A
  • NM_001291860.2:c.7201G>A
  • NM_005529.7:c.7198G>AMANE SELECT
  • NP_001278789.1:p.Ala2401Thr
  • NP_005520.4:p.Ala2400Thr
  • NC_000001.10:g.22176952C>T
  • NM_005529.5:c.7198G>A
  • NM_005529.6:c.7198G>A
Protein change:
A2400T
Links:
dbSNP: rs148674648
NCBI 1000 Genomes Browser:
rs148674648
Molecular consequence:
  • NM_001291860.2:c.7201G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005529.7:c.7198G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003875545Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 9, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003875545.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.7198G>A (p.A2400T) alteration is located in exon 55 (coding exon 55) of the HSPG2 gene. This alteration results from a G to A substitution at nucleotide position 7198, causing the alanine (A) at amino acid position 2400 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024