NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 23, 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:: RCV004794589.1

Allele description [Variation Report for NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)]

NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)

Gene:

SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)

HGVS:

NC_000013.11:g.23331200_23331204del
NG_012342.1:g.107500_107504del
NM_001278055.2:c.12232_12236del
NM_014363.4:c.12673_12677delTATCA
NM_014363.6:c.12673_12677delMANE SELECT
NP_001264984.1:p.Tyr4078fs
NP_055178.3:p.Tyr4225fs
NC_000013.10:g.23905338_23905342del
NC_000013.10:g.23905339_23905343del
NM_014363.4:c.12673_12677del
NM_014363.5:c.12673_12677delTATCA

Protein change:

Y4078fs

Links:

dbSNP: rs775863207

NCBI 1000 Genomes Browser:

rs775863207

Molecular consequence:

NM_001278055.2:c.12232_12236del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014363.6:c.12673_12677del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005414892	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (May 23, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005414892

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(May 23, 2024)

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, SCV005414892.1

#	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 abnormal protein length as the last 355 amino acids are replaced with 5 different amino acids; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35578252, 33746006)

#	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: May 16, 2025

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