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NM_001909.5(CTSD):c.956C>T (p.Pro319Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 2, 2014
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:
RCV000187318.1

Allele description [Variation Report for NM_001909.5(CTSD):c.956C>T (p.Pro319Leu)]

NM_001909.5(CTSD):c.956C>T (p.Pro319Leu)

Gene:
CTSD:cathepsin D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu)
Other names:
p.P319L:CCG>CTG
HGVS:
  • NC_000011.10:g.1754010G>A
  • NG_008655.1:g.14983C>T
  • NM_001909.5:c.956C>TMANE SELECT
  • NP_001900.1:p.Pro319Leu
  • NC_000011.9:g.1775240G>A
  • NM_001909.4:c.956C>T
Protein change:
P319L
Links:
dbSNP: rs373170074
NCBI 1000 Genomes Browser:
rs373170074
Molecular consequence:
  • NM_001909.5:c.956C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000240900GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 2, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000240900.10

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

Description

p.Pro319Leu (CCG>CTG): c.956 C>T in exon 7 of the CTSD gene (NM_001909.4). A variant of unknown significance has been identified in the CTSD gene. The P319L variant has not been published as a mutation, nor has it been reported as a benign polymorphism . It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The P319L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution alters a highly conserved position predicted to be within the Cathepsin D heavy chain of the protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.The variant is found in EPILEPSY panel(s).

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

Last Updated: Sep 29, 2024