U.S. flag

An official website of the United States government

NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 22, 2021
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:
RCV000489838.10

Allele description [Variation Report for NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg)]

NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg)

Gene:
SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg)
HGVS:
  • NC_000018.10:g.51078303T>C
  • NG_013013.2:g.115264T>C
  • NM_005359.6:c.1495T>CMANE SELECT
  • NP_005350.1:p.Cys499Arg
  • NP_005350.1:p.Cys499Arg
  • LRG_318t1:c.1495T>C
  • LRG_318:g.115264T>C
  • LRG_318p1:p.Cys499Arg
  • NC_000018.9:g.48604673T>C
  • NM_005359.5:c.1495T>C
Protein change:
C499R
Links:
dbSNP: rs1060500738
NCBI 1000 Genomes Browser:
rs1060500738
Molecular consequence:
  • NM_005359.6:c.1495T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000577781GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely pathogenic
(Jun 22, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000577781.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28347348, 23139211, 24944587, 26475379, 29780628, 29117359, 27535533, 17873119, 18823382, 15235019)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024