U.S. flag

An official website of the United States government

NM_005359.6(SMAD4):c.-127-3T>A AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 19, 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:
RCV002257674.1

Allele description [Variation Report for NM_005359.6(SMAD4):c.-127-3T>A]

NM_005359.6(SMAD4):c.-127-3T>A

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.-127-3T>A
HGVS:
  • NC_000018.10:g.51046917T>A
  • NG_013013.2:g.83878T>A
  • NM_005359.6:c.-127-3T>AMANE SELECT
  • LRG_318t1:c.-127-3T>A
  • LRG_318:g.83878T>A
  • NC_000018.9:g.48573287T>A
  • NM_005359.5:c.-127-3T>A
Links:
dbSNP: rs746840014
NCBI 1000 Genomes Browser:
rs746840014
Molecular consequence:
  • NM_005359.6:c.-127-3T>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002538296Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Likely benign
(Aug 19, 2021) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002538296.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023