NM_020533.3(MCOLN1):c.589C>T (p.Pro197Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 1, 2019
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:: RCV001092938.22

Allele description [Variation Report for NM_020533.3(MCOLN1):c.589C>T (p.Pro197Ser)]

NM_020533.3(MCOLN1):c.589C>T (p.Pro197Ser)

Gene:

MCOLN1:mucolipin TRP cation channel 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_020533.3(MCOLN1):c.589C>T (p.Pro197Ser)

HGVS:

NC_000019.10:g.7527537C>T
NG_015806.1:g.9928C>T
NM_020533.3:c.589C>TMANE SELECT
NP_065394.1:p.Pro197Ser
NC_000019.9:g.7592423C>T
NM_020533.2:c.589C>T

Protein change:

P197S

Links:

dbSNP: rs145706318

NCBI 1000 Genomes Browser:

rs145706318

Molecular consequence:

NM_020533.3:c.589C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Chain F, 26S proteasome regulatory subunit 6A
Chain F, 26S proteasome regulatory subunit 6A
gi|1237405397|pdb|5VHI|F

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001249685	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Aug 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001249685

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Aug 1, 2019)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001249685.26

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

Last Updated: Oct 20, 2024

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