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NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 7, 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:
RCV000218316.7

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:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000269929Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(Jan 7, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not providednot providednot providedclinical testing

Citations

PubMed

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U.

Hum Mol Genet. 2015 Jul 1;24(13):3732-41. doi: 10.1093/hmg/ddv117. Epub 2015 Apr 8.

PubMed [citation]
PMID:
25855803
PMCID:
PMC4459391

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000269929.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (2)

Description

p.Asp639Asn in exon 12 of TSPEAR: This variant is not expected to have clinical significance because it has been identified in 0.5% (214/39556) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs138480801).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Dec 22, 2024