NM_003193.5(TBCE):c.*60_*62dup AND Hypoparathyroidism-retardation-dysmorphism syndrome

NM_003193.5(TBCE):c.60_62dup AND Hypoparathyroidism-retardation-dysmorphism syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000331563.5

Allele description [Variation Report for NM_003193.5(TBCE):c.60_62dup]

NM_003193.5(TBCE):c.60_62dup

Genes:

B3GALNT2:beta-1,3-N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
TBCE:tubulin folding cofactor E [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q42.3

Genomic location:

Preferred name:

NM_003193.5(TBCE):c.*60_*62dup

HGVS:

NC_000001.11:g.235448822_235448824dup
NG_009230.1:g.86410_86412dup
NG_009230.2:g.86397_86399dup
NG_033219.2:g.60660_60662dup
NG_033219.3:g.60630_60632dup
NM_001079515.3:c.*60_*62dup
NM_001287801.2:c.*60_*62dup
NM_001287802.2:c.*60_*62dup
NM_003193.5:c.*60_*62dupMANE SELECT
NM_152490.5:c.*1384_*1386dupMANE SELECT
NC_000001.10:g.235612137_235612139dup
NM_003193.3:c.*60_*62dupTAA

Links:

dbSNP: rs886046152

NCBI 1000 Genomes Browser:

rs886046152

Molecular consequence:

NM_001079515.3:c.*60_*62dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001287801.2:c.*60_*62dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001287802.2:c.*60_*62dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_003193.5:c.*60_*62dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_152490.5:c.*1384_*1386dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000355658	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000355658

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000355658.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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: Sep 1, 2024

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