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NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp) AND SMAD3-related disorder

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000844981.1

Allele description [Variation Report for NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)]

NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)

Gene:
SMAD3:SMAD family member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.33
Genomic location:
Preferred name:
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)
HGVS:
  • NC_000015.10:g.67164908C>T
  • NG_011990.1:g.104052C>T
  • NM_001145102.2:c.-96C>T
  • NM_001145103.2:c.88C>T
  • NM_005902.4:c.220C>TMANE SELECT
  • NP_001138575.1:p.Arg30Trp
  • NP_005893.1:p.Arg74Trp
  • NC_000015.9:g.67457246C>T
  • NM_005902.3:c.220C>T
Protein change:
R30W
Links:
dbSNP: rs1343295267
NCBI 1000 Genomes Browser:
rs1343295267
Molecular consequence:
  • NM_001145102.2:c.-96C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001145103.2:c.88C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005902.4:c.220C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
SMAD3-related disorder
Synonyms:
SMAD3-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986808GenomeConnect, ClinGen
no classification provided
not providedpaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986808.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Uncertain significance and reported on 10/21/2015 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: May 19, 2024