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NM_172362.3(KCNH1):c.80-19dup AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 19, 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:
RCV002506648.1

Allele description [Variation Report for NM_172362.3(KCNH1):c.80-19dup]

NM_172362.3(KCNH1):c.80-19dup

Gene:
KCNH1:potassium voltage-gated channel subfamily H member 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_172362.3(KCNH1):c.80-19dup
HGVS:
  • NC_000001.11:g.211107396dup
  • NG_029777.2:g.31733dup
  • NM_002238.4:c.80-19dup
  • NM_172362.3:c.80-19dupMANE SELECT
  • NC_000001.10:g.211280738dup
  • NM_172362.3:c.80-6dupMANE SELECT
Links:
dbSNP: rs56223346
NCBI 1000 Genomes Browser:
rs56223346
Molecular consequence:
  • NM_002238.4:c.80-19dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_172362.3:c.80-19dup - 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
Name:
Temple-Baraitser syndrome (TMBTS)
Synonyms:
Severe mental retardation and absent nails of hallux and pollex
Identifiers:
MONDO: MONDO:0012735; MedGen: C2678486; Orphanet: 420561; OMIM: 611816

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002801238Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(May 19, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002801238.1

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

Last Updated: Dec 24, 2023