NM_005359.6(SMAD4):c.1023del (p.Pro342fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 4, 2019
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:: RCV002315867.8

Allele description [Variation Report for NM_005359.6(SMAD4):c.1023del (p.Pro342fs)]

NM_005359.6(SMAD4):c.1023del (p.Pro342fs)

Gene:

SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

18q21.2

Genomic location:

Preferred name:

NM_005359.6(SMAD4):c.1023del (p.Pro342fs)

HGVS:

NC_000018.10:g.51065490del
NG_013013.2:g.102451del
NM_005359.6:c.1023delMANE SELECT
NP_005350.1:p.Pro342fs
NP_005350.1:p.Pro342fs
LRG_318t1:c.1023del
LRG_318:g.102451del
LRG_318p1:p.Pro342fs
NC_000018.9:g.48591859del
NC_000018.9:g.48591860del
NM_005359.4:c.1023del
NM_005359.5:c.1023del
NM_005359.5:c.1023delT

Protein change:

P342fs

Links:

dbSNP: rs1555686469

NCBI 1000 Genomes Browser:

rs1555686469

Molecular consequence:

NM_005359.6:c.1023del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:: Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:: MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000675139	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Pathogenic (Nov 4, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000675139

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Pathogenic
(Nov 4, 2019)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000675139.4

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

Description

The c.1023delT pathogenic mutation, located in coding exon 8 of the SMAD4 gene, results from a deletion of one nucleotide at nucleotide position 1023, causing a translational frameshift with a predicted alternate stop codon (p.P342Lfs*42). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Jun 2, 2024

ClinVar

Relating variation to medicine