NM_144991.3(TSPEAR):c.42_51dup (p.His18fs) AND Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 19, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001376116.1

Allele description [Variation Report for NM_144991.3(TSPEAR):c.42_51dup (p.His18fs)]

NM_144991.3(TSPEAR):c.42_51dup (p.His18fs)

Gene:

TSPEAR:thrombospondin type laminin G domain and EAR repeats [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_144991.3(TSPEAR):c.42_51dup (p.His18fs)

HGVS:

NC_000021.9:g.44711467_44711476dup
NG_033806.1:g.5108_5117dup
NM_001272037.2:c.-225_-216dup
NM_144991.3:c.42_51dupMANE SELECT
NP_659428.2:p.His18fs
NC_000021.8:g.46131378_46131379insGCCGGGGGCC
NC_000021.8:g.46131382_46131391dup
NM_144991.2:c.42_51dup
NM_144991.3:c.51_52insGGCCCCCGGCMANE SELECT

Protein change:

H18fs

Links:

dbSNP: rs1467180870

NCBI 1000 Genomes Browser:

rs1467180870

Molecular consequence:

NM_001272037.2:c.-225_-216dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_144991.3:c.42_51dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Identifiers:: MONDO: MONDO:0032584; MedGen: C4748560; OMIM: 618180

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001441632	Shieh Lab, University of California, San Francisco	no assertion criteria provided	Pathogenic (Oct 19, 2020)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001441632

Shieh Lab, University of California, San Francisco

no assertion criteria provided

Pathogenic
(Oct 19, 2020)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Shieh Lab, University of California, San Francisco, SCV001441632.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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