NM_001287.6(CLCN7):c.2251-33_2251-12dup AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 23, 2023
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:: RCV003675430.2

Allele description [Variation Report for NM_001287.6(CLCN7):c.2251-33_2251-12dup]

NM_001287.6(CLCN7):c.2251-33_2251-12dup

Gene:

CLCN7:chloride voltage-gated channel 7 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_001287.6(CLCN7):c.2251-33_2251-12dup

HGVS:

NC_000016.10:g.1447098_1447119dup
NG_007567.1:g.32966_32987dup
NM_001114331.3:c.2179-33_2179-12dup
NM_001287.6:c.2251-33_2251-12dupMANE SELECT
NC_000016.9:g.1497098_1497099insGCACAGCTGTCAGTGCCCGCCC
NC_000016.9:g.1497099_1497120dup

Molecular consequence:

NM_001114331.3:c.2179-33_2179-12dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001287.6:c.2251-33_2251-12dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Ozothamnus leptophyllus (6)
Nucleotide
Homologene neighbors for GEO Profiles (Select 25407949) (0)
GEO Profiles
Homologene neighbors for GEO Profiles (Select 28730449) (0)
GEO Profiles
Chromosome neighbors for GEO Profiles (Select 49903749) (20)
GEO Profiles
Pcyt1b phosphate cytidylyltransferase 1B, choline [Rattus norvegicus]
Pcyt1b phosphate cytidylyltransferase 1B, choline [Rattus norvegicus]
Gene ID:286936

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004391359	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Mar 23, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004391359

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Mar 23, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004391359.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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