NM_005585.5(SMAD6):c.38T>A (p.Leu13His) AND Radioulnar synostosis

Germline classification:: Likely 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:: RCV001799772.1

Allele description [Variation Report for NM_005585.5(SMAD6):c.38T>A (p.Leu13His)]

NM_005585.5(SMAD6):c.38T>A (p.Leu13His)

Gene:

SMAD6:SMAD family member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

Preferred name:

NM_005585.5(SMAD6):c.38T>A (p.Leu13His)

HGVS:

NC_000015.10:g.66703296T>A
NG_012244.2:g.5961T>A
NM_005585.5:c.38T>AMANE SELECT
NP_005576.3:p.Leu13His
NC_000015.9:g.66995634T>A
NR_027654.2:n.1061T>A

Protein change:

L13H

Links:

dbSNP: rs1893016936

NCBI 1000 Genomes Browser:

rs1893016936

Molecular consequence:

NM_005585.5:c.38T>A - missense variant - [Sequence Ontology: SO:0001583]
NR_027654.2:n.1061T>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001739394	The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital	no assertion criteria provided	Likely pathogenic (Jun 20, 2020)	paternal	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001739394

The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital

no assertion criteria provided

Likely pathogenic
(Jun 20, 2020)

paternal

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital, SCV001739394.1

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

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

Last Updated: Dec 24, 2023

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