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NM_001897.5(CSPG4):c.4676G>A (p.Arg1559His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 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:
RCV004263045.1

Allele description [Variation Report for NM_001897.5(CSPG4):c.4676G>A (p.Arg1559His)]

NM_001897.5(CSPG4):c.4676G>A (p.Arg1559His)

Gene:
CSPG4:chondroitin sulfate proteoglycan 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.2
Genomic location:
Preferred name:
NM_001897.5(CSPG4):c.4676G>A (p.Arg1559His)
HGVS:
  • NC_000015.10:g.75682714C>T
  • NG_131732.1:g.358C>T
  • NM_001897.5:c.4676G>AMANE SELECT
  • NP_001888.2:p.Arg1559His
  • NC_000015.9:g.75975055C>T
  • NM_001897.4:c.4676G>A
Protein change:
R1559H
Molecular consequence:
  • NM_001897.5:c.4676G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003876395Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 23, 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, SCV003876395.2

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

Description

The c.4676G>A (p.R1559H) alteration is located in exon 7 (coding exon 7) of the CSPG4 gene. This alteration results from a G to A substitution at nucleotide position 4676, causing the arginine (R) at amino acid position 1559 to be replaced by a histidine (H). 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: Nov 3, 2024