NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACACAT AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 29, 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:: RCV001561581.2

Allele description [Variation Report for NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACACAT]

NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACACAT

Gene:

CLCNKB:chloride voltage-gated channel Kb [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

1p36.13

Genomic location:

Preferred name:

NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACACAT

HGVS:

NC_000001.11:g.16044378_16044379insACACACACACAT
NG_013079.1:g.5627_5628insACACACACACAT
NM_000085.5:c.-7-108_-7-107insACACACACACATMANE SELECT
NC_000001.10:g.16370873_16370874insACACACACACAT

Links:

dbSNP: rs146972886

NCBI 1000 Genomes Browser:

rs146972886

Molecular consequence:

NM_000085.5:c.-7-108_-7-107insACACACACACAT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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SRX20030753 (1)
SRA
Avena barbata isolate 11-G-8 small subunit ribosomal RNA gene, partial sequence;...
Avena barbata isolate 11-G-8 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, complete sequence; and 5.8S ribosomal RNA gene, partial sequence
gi|2418432289|gb|OQ135472.1|

Nucleotide
Rhizonema interruptum MDF520 ribulose-1,5-bisphosphate carboxylase/oxygenase lar...
Rhizonema interruptum MDF520 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; and chaperonin-like protein (rbcX) gene, complete cds
gi|1933730294|gb|MT992596.1|

Nucleotide
JGI_CABC6945.rev NIH_XGC_tropFat1 Xenopus tropicalis cDNA clone IMAGE:7803155 3'...
JGI_CABC6945.rev NIH_XGC_tropFat1 Xenopus tropicalis cDNA clone IMAGE:7803155 3', mRNA sequence
gi|71456559|gnl|dbEST|30349867|gb|D 19.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001784208	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Nov 29, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001784208

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Nov 29, 2019)

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, SCV001784208.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	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: Dec 24, 2023

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