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NM_145040.3(CAVIN3):c.676C>T (p.Pro226Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 7, 2024
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:
RCV004602631.1

Allele description [Variation Report for NM_145040.3(CAVIN3):c.676C>T (p.Pro226Ser)]

NM_145040.3(CAVIN3):c.676C>T (p.Pro226Ser)

Gene:
CAVIN3:caveolae associated protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_145040.3(CAVIN3):c.676C>T (p.Pro226Ser)
HGVS:
  • NC_000011.10:g.6319273G>A
  • NG_121756.1:g.197G>A
  • NM_145040.3:c.676C>TMANE SELECT
  • NP_659477.2:p.Pro226Ser
  • NC_000011.9:g.6340503G>A
  • NM_145040.2:c.676C>T
Protein change:
P226S
Molecular consequence:
  • NM_145040.3:c.676C>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
SCV005098145Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 7, 2024) 		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, SCV005098145.1

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

Description

The c.676C>T (p.P226S) alteration is located in exon 2 (coding exon 2) of the PRKCDBP gene. This alteration results from a C to T substitution at nucleotide position 676, causing the proline (P) at amino acid position 226 to be replaced by a serine (S). 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: Aug 11, 2024