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NM_005359.6(SMAD4):c.-128+19C>T AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 3, 2018
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:
RCV000486021.1

Allele description [Variation Report for NM_005359.6(SMAD4):c.-128+19C>T]

NM_005359.6(SMAD4):c.-128+19C>T

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.-128+19C>T
HGVS:
  • NC_000018.10:g.51030642C>T
  • NG_013013.2:g.67603C>T
  • NM_005359.6:c.-128+19C>TMANE SELECT
  • LRG_318t1:c.-128+19C>T
  • LRG_318:g.67603C>T
  • NC_000018.9:g.48557012C>T
  • NM_005359.5:c.-128+19C>T
Links:
dbSNP: rs974217374
NCBI 1000 Genomes Browser:
rs974217374
Molecular consequence:
  • NM_005359.6:c.-128+19C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000573226GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 3, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000573226.3

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

Description

This variant is denoted SMAD4 c.-128+19C>T or IVS1+19C>T and consists of a C>T nucleotide substitution at the +19 position of intron 1 of the SMAD4 gene. This variant is not predicted to cause abnormal splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. SMAD4 c.-128+19C>T was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The cytosine (C) nucleotide that is altered is conserved in mammals. Based on currently available information, it is unclear whether SMAD4 c.-128+19C>T is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Nov 5, 2022