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NM_172362.3(KCNH1):c.80-6del AND Zimmermann-Laband syndrome 1

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 19, 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:
RCV001730854.2

Allele description [Variation Report for NM_172362.3(KCNH1):c.80-6del]

NM_172362.3(KCNH1):c.80-6del

Gene:
KCNH1:potassium voltage-gated channel subfamily H member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_172362.3(KCNH1):c.80-6del
HGVS:
  • NC_000001.11:g.211107396del
  • NG_029777.2:g.31733del
  • NM_002238.4:c.80-6del
  • NM_172362.3:c.80-6delMANE SELECT
  • NC_000001.10:g.211280738del
Links:
dbSNP: rs56223346
NCBI 1000 Genomes Browser:
rs56223346
Molecular consequence:
  • NM_002238.4:c.80-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172362.3:c.80-6del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Zimmermann-Laband syndrome 1 (ZLS1)
Synonyms:
Laband syndrome; Gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly; Fibromatosis gingival, hepatosplenomegaly other anomalies
Identifiers:
MONDO: MONDO:0024526; MedGen: C4551773; Orphanet: 3473; OMIM: 135500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001980877Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 19, 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, SCV001980877.1

#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: Dec 24, 2023