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NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 20, 2022
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:
RCV003120542.3

Allele description [Variation Report for NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)]

NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)

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.827A>T (p.Tyr276Phe)
HGVS:
  • NC_000018.10:g.51058379A>T
  • NG_013013.2:g.95340A>T
  • NM_005359.6:c.827A>TMANE SELECT
  • NP_005350.1:p.Tyr276Phe
  • LRG_318:g.95340A>T
  • NC_000018.9:g.48584749A>T
  • NM_005359.5:c.827A>T
Protein change:
Y276F
Links:
dbSNP: rs1229812463
NCBI 1000 Genomes Browser:
rs1229812463
Molecular consequence:
  • NM_005359.6:c.827A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003800530ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Uncertain significance
(Oct 20, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV003800530.1

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

Description

The SMAD4 c.827A>T; p.Tyr276Phe variant (rs1229812463), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1003211). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The tyrosine at codon 276 is moderately conserved, and computational analyses predict that this variant is neutral (REVEL: 0.145). Due to limited information, the clinical significance of the p.Tyr276Phe variant is uncertain at this time.

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

Last Updated: Sep 29, 2024