NM_003072.5(SMARCA4):c.704G>A (p.Gly235Asp) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 2, 2020
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:: RCV002368175.2

Allele description [Variation Report for NM_003072.5(SMARCA4):c.704G>A (p.Gly235Asp)]

NM_003072.5(SMARCA4):c.704G>A (p.Gly235Asp)

Gene:

SMARCA4:SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_003072.5(SMARCA4):c.704G>A (p.Gly235Asp)

HGVS:

NC_000019.10:g.10986537G>A
NG_011556.3:g.30606G>A
NM_001128844.3:c.704G>A
NM_001128845.2:c.704G>A
NM_001128846.2:c.704G>A
NM_001128847.4:c.704G>A
NM_001128848.2:c.704G>A
NM_001128849.3:c.704G>A
NM_001374457.1:c.704G>A
NM_001387283.1:c.704G>A
NM_003072.5:c.704G>AMANE SELECT
NP_001122316.1:p.Gly235Asp
NP_001122317.1:p.Gly235Asp
NP_001122318.1:p.Gly235Asp
NP_001122319.1:p.Gly235Asp
NP_001122320.1:p.Gly235Asp
NP_001122321.1:p.Gly235Asp
NP_001361386.1:p.Gly235Asp
NP_001374212.1:p.Gly235Asp
NP_003063.2:p.Gly235Asp
LRG_878t1:c.704G>A
LRG_878:g.30606G>A
LRG_878p1:p.Gly235Asp
NC_000019.9:g.11097213G>A
NG_011556.2:g.30616G>A
NM_001128849.1:c.704G>A
NR_164683.1:n.880G>A

Protein change:

G235D

Links:

dbSNP: rs1240479086

NCBI 1000 Genomes Browser:

rs1240479086

Molecular consequence:

NM_001128844.3:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128845.2:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128846.2:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128847.4:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128848.2:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128849.3:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374457.1:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001387283.1:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003072.5:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_164683.1:n.880G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002662352	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 2, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002662352

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 2, 2020)

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 Ambry Genetics, SCV002662352.2

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

Description

The p.G235D variant (also known as c.704G>A), located in coding exon 3 of the SMARCA4 gene, results from a G to A substitution at nucleotide position 704. The glycine at codon 235 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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