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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003800530	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Uncertain significance (Oct 20, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003800530

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Uncertain significance
(Oct 20, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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