NM_001909.5(CTSD):c.926G>A (p.Arg309His) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 6, 2018
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:: RCV002314714.9

Allele description [Variation Report for NM_001909.5(CTSD):c.926G>A (p.Arg309His)]

NM_001909.5(CTSD):c.926G>A (p.Arg309His)

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.926G>A (p.Arg309His)

Other names:

p.R309H:CGC>CAC

HGVS:

NC_000011.10:g.1754040C>T
NG_008655.1:g.14953G>A
NM_001909.5:c.926G>AMANE SELECT
NP_001900.1:p.Arg309His
NC_000011.9:g.1775270C>T
NM_001909.4:c.926G>A

Protein change:

R309H

Links:

dbSNP: rs374540411

NCBI 1000 Genomes Browser:

rs374540411

Molecular consequence:

NM_001909.5:c.926G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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Col13a1 collagen, type XIII, alpha 1 [Mus musculus]
Col13a1 collagen, type XIII, alpha 1 [Mus musculus]
Gene ID:12817

Gene
12817[uid] AND (alive[prop]) (1)
Gene
Same, Connectivity for PubChem Compound (Select 166906074) (1)
PubChem Compound
Same, Isotopes for PubChem Compound (Select 166906074) (1)
PubChem Compound
Same Parent for PubChem Compound (Select 166906074) (1)
PubChem Compound

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000848256	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 6, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000848256

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 6, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000848256.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.R309H variant (also known as c.926G>A), located in coding exon 7 of the CTSD gene, results from a G to A substitution at nucleotide position 926. The arginine at codon 309 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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