NM_001287.6(CLCN7):c.2066del (p.Lys689fs) AND Autosomal dominant osteopetrosis 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 2022
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:: RCV002249364.1

Allele description [Variation Report for NM_001287.6(CLCN7):c.2066del (p.Lys689fs)]

NM_001287.6(CLCN7):c.2066del (p.Lys689fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_001287.6(CLCN7):c.2066del (p.Lys689fs)

HGVS:

NC_000016.10:g.1447664del
NG_007567.1:g.32423del
NM_001114331.3:c.1994del
NM_001287.6:c.2066delMANE SELECT
NP_001107803.1:p.Lys665fs
NP_001278.1:p.Lys689fs
NC_000016.10:g.1447662_1447662delT
NC_000016.9:g.1497665del

Protein change:

K665fs

Links:

dbSNP: rs2142366092

NCBI 1000 Genomes Browser:

rs2142366092

Molecular consequence:

NM_001114331.3:c.1994del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001287.6:c.2066del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Autosomal dominant osteopetrosis 2
Synonyms:: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT; MARBLE BONES, AUTOSOMAL DOMINANT; OSTEOSCLEROSIS FRAGILIS GENERALISATA; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008156; MedGen: C3179239; Orphanet: 53; OMIM: 166600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002518715	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002518715

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV002518715.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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