NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs) AND Radial aplasia-thrombocytopenia syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Aug 1, 2023
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:: RCV000023420.8

Allele description [Variation Report for NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs)]

NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs)

Genes:

LOC126805851:MED14-independent group 3 enhancer GRCh37_chr1:145507474-145508673 [Gene]
RBM8A:RNA binding motif protein 8A [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

1q21.1

Genomic location:

Preferred name:

NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs)

HGVS:

NC_000001.11:g.145926616_145926617insCGCT
NG_032654.2:g.5920_5921insAGCG
NM_005105.5:c.207_208insAGCGMANE SELECT
NP_005096.1:p.Val70fs
NP_005096.1:p.Val70fs
LRG_574t1:c.207_208insAGCG
LRG_574:g.5920_5921insAGCG
LRG_574p1:p.Val70fs
NC_000001.10:g.145508476_145508477insAGCG
NM_005105.4:c.207_208insAGCG

Nucleotide change:

4-bp insertion in exon 4 (AGCG)

Protein change:

V70fs

Links:

OMIM: 605313.0003; dbSNP: rs397515388

NCBI 1000 Genomes Browser:

rs397515388

Molecular consequence:

NM_005105.5:c.207_208insAGCG - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

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Caenorhabditis elegans EGF-like domain-containing protein (Y102A5C.4), partial m...
Caenorhabditis elegans EGF-like domain-containing protein (Y102A5C.4), partial mRNA
gi|1734337502|ref|NM_074877.3|

Nucleotide
PREDICTED: Mus musculus transcription factor AP4 (Tfap4), transcript variant X1,...
PREDICTED: Mus musculus transcription factor AP4 (Tfap4), transcript variant X1, mRNA
gi|1907120282|ref|XM_017317166.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044711	OMIM	no assertion criteria provided	Pathogenic (Feb 26, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000086599	GeneReviews	no classification provided	not provided	germline	literature only
SCV004239094	Johns Hopkins Genomics, Johns Hopkins University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 1, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 20301781, 22366785, 36077017, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000044711

OMIM

no assertion criteria provided

Pathogenic
(Feb 26, 2012)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000086599

GeneReviews

no classification provided

not provided

germline

literature only

SCV004239094

Johns Hopkins Genomics, Johns Hopkins University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 1, 2023)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Thrombocytopenia Absent Radius Syndrome.

Petit F, Boussion S.

2009 Dec 8 [updated 2023 Nov 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301781

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone P, Breuning MH, Debili N, Deloukas P, Favier R, Fiedler J, Hobbs CM, Huang N, Hurles ME, Kiddle G, Krapels I, Nurden P, Ruivenkamp CA, et al.

Nat Genet. 2012 Feb 26;44(4):435-9, S1-2. doi: 10.1038/ng.1083.

PubMed [citation]

PMID:: 22366785
PMCID:: PMC3428915

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000044711.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with thrombocytopenia-absent radius syndrome (TAR; 274000), Albers et al. (2012) found compound heterozygosity for a 4-bp insertion (AGCG, chr1:145,508,476, GRCh37) in exon 4 of the RBM8A gene, resulting in frameshift, and a SNP in the 5-prime UTR (605313.0001).

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

From GeneReviews, SCV000086599.3

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

From Johns Hopkins Genomics, Johns Hopkins University, SCV004239094.1

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

#	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: Feb 14, 2024

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