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NM_003193.5(TBCE):c.355_356del (p.Ile119fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 20, 2019
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:
RCV000991360.1

Allele description [Variation Report for NM_003193.5(TBCE):c.355_356del (p.Ile119fs)]

NM_003193.5(TBCE):c.355_356del (p.Ile119fs)

Gene:
TBCE:tubulin folding cofactor E [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q42.3
Genomic location:
Preferred name:
NM_003193.5(TBCE):c.355_356del (p.Ile119fs)
HGVS:
  • NC_000001.11:g.235414602_235414603del
  • NG_009230.1:g.52190_52191del
  • NM_001079515.3:c.355_356del
  • NM_001287801.2:c.355_356del
  • NM_001287802.2:c.-41_-40del
  • NM_003193.5:c.355_356delMANE SELECT
  • NP_001072983.1:p.Ile119fs
  • NP_001274730.1:p.Ile119fs
  • NP_003184.1:p.Ile119fs
  • NC_000001.10:g.235577917_235577918del
Protein change:
I119fs
Links:
dbSNP: rs1572391840
NCBI 1000 Genomes Browser:
rs1572391840
Molecular consequence:
  • NM_001287802.2:c.-41_-40del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001079515.3:c.355_356del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287801.2:c.355_356del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003193.5:c.355_356del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS)
Synonyms:
Sanjad-Sakati syndrome; HRD syndrome; Hypoparathyroidism with short stature, mental retardation and seizures; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009426; MedGen: C1855840; Orphanet: 2323; OMIM: 241410
Name:
Autosomal recessive Kenny-Caffey syndrome (KCS1)
Synonyms:
Kenny-Caffey syndrome type 1
Identifiers:
MONDO: MONDO:0009486; MedGen: C1855648; Orphanet: 2333; OMIM: 244460

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001142752Hadassah Hebrew University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 20, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Hadassah Hebrew University Medical Center, SCV001142752.2

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

Last Updated: Apr 23, 2022