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NM_001287.6(CLCN7):c.126T>C (p.Pro42=) AND Autosomal recessive osteopetrosis 4

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 14, 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:
RCV001544229.2

Allele description [Variation Report for NM_001287.6(CLCN7):c.126T>C (p.Pro42=)]

NM_001287.6(CLCN7):c.126T>C (p.Pro42=)

Genes:
LOC130058166:ATAC-STARR-seq lymphoblastoid silent region 6986 [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.126T>C (p.Pro42=)
HGVS:
  • NC_000016.10:g.1474849A>G
  • NG_007567.1:g.5236T>C
  • NM_001114331.3:c.126T>C
  • NM_001287.6:c.126T>CMANE SELECT
  • NP_001107803.1:p.Pro42=
  • NP_001278.1:p.Pro42=
  • NC_000016.9:g.1524850A>G
  • NM_001287.5:c.126T>C
Links:
dbSNP: rs3751884
NCBI 1000 Genomes Browser:
rs3751884
Molecular consequence:
  • NM_001114331.3:c.126T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001287.6:c.126T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001763225Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 14, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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-Nilou Lab, SCV001763225.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024