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NM_001897.5(CSPG4):c.3743A>T (p.Tyr1248Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 28, 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:
RCV004351073.1

Allele description [Variation Report for NM_001897.5(CSPG4):c.3743A>T (p.Tyr1248Phe)]

NM_001897.5(CSPG4):c.3743A>T (p.Tyr1248Phe)

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.3743A>T (p.Tyr1248Phe)
HGVS:
  • NC_000015.10:g.75687322T>A
  • NM_001897.5:c.3743A>TMANE SELECT
  • NP_001888.2:p.Tyr1248Phe
  • NC_000015.9:g.75979663T>A
  • NM_001897.4:c.3743A>T
Protein change:
Y1248F
Molecular consequence:
  • NM_001897.5:c.3743A>T - 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
SCV004070227Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 28, 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, SCV004070227.2

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

Description

The c.3743A>T (p.Y1248F) alteration is located in exon 3 (coding exon 3) of the CSPG4 gene. This alteration results from a A to T substitution at nucleotide position 3743, causing the tyrosine (Y) at amino acid position 1248 to be replaced by a phenylalanine (F). 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