NM_020822.3(KCNT1):c.1337+310_1337+323del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 14, 2018
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:: RCV000828732.1

Allele description [Variation Report for NM_020822.3(KCNT1):c.1337+310_1337+323del]

NM_020822.3(KCNT1):c.1337+310_1337+323del

Gene:

KCNT1:potassium sodium-activated channel subfamily T member 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_020822.3(KCNT1):c.1337+310_1337+323del

HGVS:

NC_000009.12:g.135766057_135766070del
NC_000009.12:g.135766070_135766083del
NG_033070.1:g.68886_68899del
NM_001272003.2:c.1202+310_1202+323del
NM_020822.3:c.1337+310_1337+323delMANE SELECT
NC_000009.11:g.138657916_138657929del
NM_020822.2:c.1337+297_1337+310delGGGTGGACCATCTG

Links:

dbSNP: rs34698704

NCBI 1000 Genomes Browser:

rs34698704

Molecular consequence:

NM_001272003.2:c.1202+310_1202+323del - intron variant - [Sequence Ontology: SO:0001627]
NM_020822.3:c.1337+310_1337+323del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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cytochrome c oxidase subunit III (mitochondrion) [Pelecinus polyturator]
cytochrome c oxidase subunit III (mitochondrion) [Pelecinus polyturator]
gi|813559311|ref|YP_009131552.1|

Protein
Mir6996 AND (alive[prop]) (2)
Gene
Fev FEV transcription factor, ETS family member [Rattus norvegicus]
Fev FEV transcription factor, ETS family member [Rattus norvegicus]
Gene ID:246271

Gene
246271[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000970432	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jun 14, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000970432

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Jun 14, 2018)

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, SCV000970432.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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: Apr 23, 2022

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