NM_002249.6(KCNN3):c.650C>T (p.Pro217Leu) AND Zimmermann-laband syndrome 3

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 21, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002468950.1

Allele description [Variation Report for NM_002249.6(KCNN3):c.650C>T (p.Pro217Leu)]

NM_002249.6(KCNN3):c.650C>T (p.Pro217Leu)

Gene:

KCNN3:potassium calcium-activated channel subfamily N member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

Preferred name:

NM_002249.6(KCNN3):c.650C>T (p.Pro217Leu)

HGVS:

NC_000001.11:g.154869315G>A
NG_016807.2:g.5964C>T
NM_001204087.2:c.650C>T
NM_002249.6:c.650C>TMANE SELECT
NP_001191016.1:p.Pro217Leu
NP_002240.3:p.Pro217Leu
NC_000001.10:g.154841791G>A

Protein change:

P217L

Molecular consequence:

NM_001204087.2:c.650C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002249.6:c.650C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Zimmermann-laband syndrome 3
Identifiers:: MONDO: MONDO:0032854; MedGen: C5231447; OMIM: 618658

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002757782	Institute of Human Genetics, University of Goettingen	no assertion criteria provided	Uncertain significance (Oct 21, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002757782

Institute of Human Genetics, University of Goettingen

no assertion criteria provided

Uncertain significance
(Oct 21, 2022)

germline

clinical testing

Help

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 Institute of Human Genetics, University of Goettingen, SCV002757782.1

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

Description

Zimmermann-Laband syndrome 3

#	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: Dec 24, 2022

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