NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) AND Tip-toe gait

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 25, 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:: RCV003319217.2

Allele description

NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)

Gene:

KCNC3:potassium voltage-gated channel subfamily C member 3 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)

HGVS:

NC_000019.10:g.50323201CGGGGGTGG[1]
NC_000019.10:g.50323201_50323209CGGGGGTGG[1]
NG_008134.2:g.11162ACCCCCGCC[1]
NM_001372305.1:c.1509ACCCCCGCC[1]
NM_004977.3:c.1737ACCCCCGCC[1]MANE SELECT
NP_001359234.1:p.Pro507_Pro509del
NP_004968.2:p.Pro583_Pro585del
LRG_668t1:c.1737ACCCCCGCC[1]
LRG_668:g.11162ACCCCCGCC[1]
LRG_668p1:p.Pro583_Pro585del
NC_000019.9:g.50826456_50826464del
NC_000019.9:g.50826456_50826464delGGCGGGGGT
NC_000019.9:g.50826458CGGGGGTGG[1]
NM_004977.2:c.1746_1754del

Links:

dbSNP: rs747618525

NCBI 1000 Genomes Browser:

rs747618525

Molecular consequence:

NM_001372305.1:c.1509ACCCCCGCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004977.3:c.1737ACCCCCGCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Tip-toe gait
Synonyms:: Toe walking
Identifiers:: MedGen: C0427144; Human Phenotype Ontology: HP:0030051

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004023214	Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino	no assertion criteria provided	Likely pathogenic (Oct 25, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004023214

Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino

no assertion criteria provided

Likely pathogenic
(Oct 25, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino, SCV004023214.1

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

Last Updated: Jun 17, 2024

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