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NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 16, 2018
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:
RCV001267478.3

Allele description [Variation Report for NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)]

NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)

Gene:
TSPEAR:thrombospondin type laminin G domain and EAR repeats [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)
HGVS:
  • NC_000021.9:g.44499878C>T
  • NG_033806.1:g.216701G>A
  • NM_001272037.2:c.1711G>A
  • NM_144991.3:c.1915G>AMANE SELECT
  • NP_001258966.1:p.Asp571Asn
  • NP_659428.2:p.Asp639Asn
  • NC_000021.8:g.45919761C>T
  • NM_144991.2:c.1915G>A
Protein change:
D571N; ASP639ASN
Links:
OMIM: 612920.0004; OMIM: 612920.0013; dbSNP: rs138480801
NCBI 1000 Genomes Browser:
rs138480801
Molecular consequence:
  • NM_001272037.2:c.1711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144991.3:c.1915G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001445659Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Uncertain significance
(Aug 16, 2018) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

Peled A, Sarig O, Samuelov L, Bertolini M, Ziv L, Weissglas-Volkov D, Eskin-Schwartz M, Adase CA, Malchin N, Bochner R, Fainberg G, Goldberg I, Sugawara K, Baniel A, Tsuruta D, Luxenburg C, Adir N, Duverger O, Morasso M, Shalev S, Gallo RL, Shomron N, et al.

PLoS Genet. 2016 Oct;12(10):e1006369. doi: 10.1371/journal.pgen.1006369.

PubMed [citation]
PMID:
27736875
PMCID:
PMC5065119

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Uyguner ZO.

Hum Genet. 2018 Sep;137(9):689-703. doi: 10.1007/s00439-018-1907-y. Epub 2018 Jul 26.

PubMed [citation]
PMID:
30046887
PMCID:
PMC6165673

Details of each submission

From Ambry Genetics, SCV001445659.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 30, 2024