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NM_005585.5(SMAD6):c.269dup (p.Arg91fs) AND Radioulnar synostosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 20, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001799789.2

Allele description [Variation Report for NM_005585.5(SMAD6):c.269dup (p.Arg91fs)]

NM_005585.5(SMAD6):c.269dup (p.Arg91fs)

Gene:
SMAD6:SMAD family member 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_005585.5(SMAD6):c.269dup (p.Arg91fs)
HGVS:
  • NC_000015.10:g.66703527dup
  • NG_012244.2:g.6192dup
  • NM_005585.5:c.269dupMANE SELECT
  • NP_005576.3:p.Arg91fs
  • NC_000015.9:g.66995859_66995860insC
  • NC_000015.9:g.66995865dup
  • NM_005585.5:c.264dupCMANE SELECT
  • NR_027654.2:n.1292dup
Protein change:
R91fs
Links:
dbSNP: rs1006397889
NCBI 1000 Genomes Browser:
rs1006397889
Molecular consequence:
  • NM_005585.5:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027654.2:n.1292dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Radioulnar synostosis
Synonyms:
Congenital radioulnar synostosis
Identifiers:
MONDO: MONDO:0017985; MedGen: C0158761; Orphanet: 3269; Human Phenotype Ontology: HP:0002974

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001739412The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
no assertion criteria provided
Pathogenic
(Jun 20, 2020) 		maternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital, SCV001739412.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024