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NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
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:
RCV000735370.10

Allele description [Variation Report for NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)]

NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)

Gene:
TNFRSF13B:TNF receptor superfamily member 13B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
HGVS:
  • NC_000017.11:g.16948873A>G
  • NG_007281.1:g.28216T>C
  • NM_012452.3:c.310T>CMANE SELECT
  • NP_036584.1:p.Cys104Arg
  • NP_036584.1:p.Cys104Arg
  • LRG_120t1:c.310T>C
  • LRG_120:g.28216T>C
  • LRG_120p1:p.Cys104Arg
  • NC_000017.10:g.16852187A>G
  • NM_012452.2:c.310T>C
  • NM_012452.3:c.310T>C
  • O14836:p.Cys104Arg
  • p.(Cys104Arg)
Protein change:
C104R; CYS104ARG
Links:
UniProtKB: O14836#VAR_024027; OMIM: 604907.0001; dbSNP: rs34557412
NCBI 1000 Genomes Browser:
rs34557412
Molecular consequence:
  • NM_012452.3:c.310T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Clubfoot
Synonyms:
Talipes equinovarus; Congenital Talipes Equinovarus; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007342; MedGen: C0009081; Orphanet: 199315; OMIM: 119800; Human Phenotype Ontology: HP:0001762
Name:
Skeletal dysplasia
Synonyms:
Primary bone dysplasia
Identifiers:
MONDO: MONDO:0018230; MedGen: C0410528; Human Phenotype Ontology: HP:0002652
Name:
Micrognathia
Identifiers:
MedGen: C0025990; Human Phenotype Ontology: HP:0000347
Name:
Hemivertebrae
Identifiers:
MedGen: C0265677; Human Phenotype Ontology: HP:0002937
Name:
Preaxial foot polydactyly
Identifiers:
MedGen: C2112942; Human Phenotype Ontology: HP:0001841
Name:
Respiratory failure
Identifiers:
MONDO: MONDO:0021113; MedGen: C1145670; Human Phenotype Ontology: HP:0002878
Name:
Short femur
Identifiers:
MONDO: MONDO:0016032; MedGen: C0345375; Human Phenotype Ontology: HP:0003097
Name:
Vertebral segmentation defect
Identifiers:
MedGen: C0432163; Human Phenotype Ontology: HP:0003422
Name:
Pseudoarthrosis
Identifiers:
MedGen: C0033785; Human Phenotype Ontology: HP:0005864
Name:
Chronic lung disease
Identifiers:
MedGen: C0746102; Human Phenotype Ontology: HP:0006528
Name:
Abnormal pulmonary interstitial morphology
Synonyms:
Interstitial lung disease; Interstitial pulmonary abnormality
Identifiers:
MONDO: MONDO:0015925; MedGen: C5441745; Human Phenotype Ontology: HP:0006530
Name:
Coat hanger sign of ribs
Identifiers:
MedGen: C4025010; Human Phenotype Ontology: HP:0006665
Name:
Vertebral hypoplasia
Identifiers:
MedGen: C0345394; Human Phenotype Ontology: HP:0008417
Name:
Absent epiphyses
Identifiers:
MedGen: C4021862; Human Phenotype Ontology: HP:0010577
Name:
Cleft palate
Identifiers:
MONDO: MONDO:0016064; MedGen: C2981150; Human Phenotype Ontology: HP:0000175
Name:
Patent ductus arteriosus
Synonyms:
Patency of the ductus arteriosus; Patent ductus arteriosus familial (type)
Identifiers:
MONDO: MONDO:0011827; MedGen: C0013274; OMIM: PS607411; Human Phenotype Ontology: HP:0001643

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854523Center for Personalized Medicine, Children's Hospital Los Angeles
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000854523.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000552474.2)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery
(GTR000552474.2)		not providednot providednot providednot provided

Last Updated: Nov 3, 2024