NM_001287.6(CLCN7):c.2250+1G>T AND Autosomal recessive osteopetrosis 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 26, 2017
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:: RCV000710065.1

Allele description [Variation Report for NM_001287.6(CLCN7):c.2250+1G>T]

NM_001287.6(CLCN7):c.2250+1G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_001287.6(CLCN7):c.2250+1G>T

HGVS:

NC_000016.10:g.1447391C>A
NG_007567.1:g.32694G>T
NM_001114331.3:c.2178+1G>T
NM_001287.6:c.2250+1G>TMANE SELECT
NC_000016.9:g.1497392C>A
NM_001287.5:c.2250+1G>T

Links:

dbSNP: rs1567263375

NCBI 1000 Genomes Browser:

rs1567263375

Molecular consequence:

NM_001114331.3:c.2178+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001287.6:c.2250+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Name:: Autosomal recessive osteopetrosis 4
Synonyms:: Osteopetrosis infantile malignant 2; infantile malignant CLCN7-related recessive osteopetrosis
Identifiers:: MONDO: MONDO:0012676; MedGen: C1969106; Orphanet: 667; OMIM: 611490

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000840450	Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 26, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 199553639, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000840450

Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 26, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

cannot get document summary

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV000840450.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Jun 10, 2023

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