NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp) AND Increased bone mineral density

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 21, 2021
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:: RCV002276719.3

Allele description [Variation Report for NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp)]

NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp)

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.856C>T (p.Arg286Trp)

HGVS:

NC_000016.10:g.1456173G>A
NG_007567.1:g.23912C>T
NM_001114331.3:c.784C>T
NM_001287.6:c.856C>TMANE SELECT
NP_001107803.1:p.Arg262Trp
NP_001278.1:p.Arg286Trp
NC_000016.9:g.1506174G>A
NM_001287.5:c.856C>T

Protein change:

R262W

Links:

dbSNP: rs1291061962

NCBI 1000 Genomes Browser:

rs1291061962

Molecular consequence:

NM_001114331.3:c.784C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001287.6:c.856C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Increased bone mineral density
Synonyms:: Osteosclerosis
Identifiers:: MONDO: MONDO:0002933; MeSH: D010026; MedGen: C0029464; Human Phenotype Ontology: HP:0011001

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002564671	Genome Diagnostics Laboratory, The Hospital for Sick Children	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 21, 2021)	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

SCV002564671

Genome Diagnostics Laboratory, The Hospital for Sick Children

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 21, 2021)

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

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 Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002564671.1

#	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: Oct 8, 2024

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