NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 21, 2017
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:: RCV000593641.4

Allele description [Variation Report for NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)]

NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)

HGVS:

NC_000013.11:g.23330261G>A
NG_012342.1:g.108442C>T
NM_001278055.2:c.13174C>T
NM_014363.6:c.13615C>TMANE SELECT
NP_001264984.1:p.Pro4392Ser
NP_055178.3:p.Pro4539Ser
NC_000013.10:g.23904400G>A

Protein change:

P4392S

Links:

dbSNP: rs1555249106

NCBI 1000 Genomes Browser:

rs1555249106

Molecular consequence:

NM_001278055.2:c.13174C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014363.6:c.13615C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Nephrons
Nephrons
The functional units of the kidney, consisting of the glomerulus and the attached tubule.<br/>Year introduced: 1979(1973)

MeSH
Kidney Cortex
Kidney Cortex
The outer zone of the KIDNEY, beneath the capsule, consisting of KIDNEY GLOMERULUS; KIDNEY TUBULES, DISTAL; and KIDNEY TUBULES, PROXIMAL.<br/>Year introduced: 1974(1973)

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000700829	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely pathogenic (Feb 21, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000700829

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely pathogenic
(Feb 21, 2017)

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	3	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000700829.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

#	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		3	not provided	not provided	not provided

Last Updated: Dec 30, 2023

ClinVar

Relating variation to medicine