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NM_005676.5(RBM10):c.396dup (p.Leu133fs) AND TARP syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 21, 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:
RCV001253313.1

Allele description [Variation Report for NM_005676.5(RBM10):c.396dup (p.Leu133fs)]

NM_005676.5(RBM10):c.396dup (p.Leu133fs)

Gene:
RBM10:RNA binding motif protein 10 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp11.3
Genomic location:
Preferred name:
NM_005676.5(RBM10):c.396dup (p.Leu133fs)
HGVS:
  • NC_000023.11:g.47171222dup
  • NG_012548.1:g.30991dup
  • NM_001204466.2:c.201+1724dup
  • NM_001204467.2:c.396dup
  • NM_001204468.2:c.591dup
  • NM_005676.5:c.396dupMANE SELECT
  • NM_152856.3:c.201+1724dup
  • NP_001191396.1:p.Leu133fs
  • NP_001191397.1:p.Leu198fs
  • NP_005667.2:p.Leu133fs
  • NC_000023.10:g.47030621dup
  • NM_005676.4:c.396dup
Protein change:
L133fs
Links:
dbSNP: rs1934642808
NCBI 1000 Genomes Browser:
rs1934642808
Molecular consequence:
  • NM_001204467.2:c.396dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001204468.2:c.591dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005676.5:c.396dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001204466.2:c.201+1724dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_152856.3:c.201+1724dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
TARP syndrome (TARPS)
Synonyms:
Talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava; Pierre Robin syndrome with congenital heart malformation and clubfoot
Identifiers:
MONDO: MONDO:0010711; MedGen: C1839463; OMIM: 311900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001428964Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 21, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001428964.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022