NC_000001.10:g.(?_145507647)_(145509231_?)del AND Radial aplasia-thrombocytopenia syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 23, 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:: RCV000633531.4

Allele description [Variation Report for NC_000001.10:g.(?_145507647)_(145509231_?)del]

NC_000001.10:g.(?_145507647)_(145509231_?)del

Gene:: RBM8A:RNA binding motif protein 8A [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 1q21.1
Genomic location:: Chr1: 145507647 - 145509231 (on Assembly GRCh37)
Preferred name:: NC_000001.10:g.(?_145507647)_(145509231_?)del
HGVS:: NC_000001.10:g.(?_145507647)_(145509231_?)del
This HGVS expression did not pass validation

Condition(s)

Name:: Radial aplasia-thrombocytopenia syndrome (TAR)
Synonyms:: Absent radii and thrombocytopenia; Thrombocytopenia absent radii; TAR syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010121; MeSH: C536940; MedGen: C0175703; Orphanet: 3320; OMIM: 274000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000754777	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 23, 2019)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 17236129, 27846804, 24220582, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000754777

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 23, 2019)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Citations

PubMed

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.

Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S.

Am J Hum Genet. 2007 Feb;80(2):232-40. Epub 2006 Dec 21.

PubMed [citation]

PMID:: 17236129
PMCID:: PMC1785342

Clinical utility of array comparative genomic hybridisation in prenatal setting.

Lovrecic L, Remec ZI, Volk M, Rudolf G, Writzl K, Peterlin B.

BMC Med Genet. 2016 Nov 15;17(1):81.

PubMed [citation]

PMID:: 27846804
PMCID:: PMC5111187

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000754777.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the RBM8A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Gross deletions of the entire RBM8A gene are included in the critical region of a recurrent microdeletion that spans chromosomal band 1q21.1 and includes additional genes. This microdeletion has been reported in many individuals affected with thrombocytopenia-absent radius (TAR) syndrome and is typically inherited along with an additional hypomorphic variant on the opposite allele (PMID: 17236129, 24220582, 27846804). Loss-of-function variants in RBM8A are known to be pathogenic (PMID: 22366785). For these reasons, this variant has been classified as Pathogenic.

#	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: Apr 23, 2022

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