NM_000308.4(CTSA):c.990dup (p.Cys331fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 23, 2022
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:: RCV003229881.1

Allele description [Variation Report for NM_000308.4(CTSA):c.990dup (p.Cys331fs)]

NM_000308.4(CTSA):c.990dup (p.Cys331fs)

Gene:

CTSA:cathepsin A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

20q13.12

Genomic location:

Preferred name:

NM_000308.4(CTSA):c.990dup (p.Cys331fs)

HGVS:

NC_000020.11:g.45895035dup
NG_008291.1:g.9084dup
NG_033108.1:g.1259dup
NM_000308.4:c.990dupMANE SELECT
NM_001127695.3:c.990dup
NM_001167594.3:c.939dup
NP_000299.3:p.Cys331fs
NP_001121167.1:p.Cys331fs
NP_001161066.2:p.Cys314fs
NC_000020.10:g.44523667_44523668insC
NC_000020.10:g.44523674dup
NM_000308.2:c.1044dup
NM_000308.3:c.1044dupC
NM_000308.4:c.990dupCMANE SELECT
NR_133656.2:n.1042dup

Protein change:

C314fs

Links:

dbSNP: rs758642867

NCBI 1000 Genomes Browser:

rs758642867

Molecular consequence:

NM_000308.4:c.990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127695.3:c.990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001167594.3:c.939dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_133656.2:n.1042dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003927408	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Nov 23, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003927408

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Nov 23, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV003927408.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Also known as c.899dupC; This variant is associated with the following publications: (PMID: 12649068)

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

Last Updated: Sep 29, 2024

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