NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 3, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000486463.24

Allele description [Variation Report for NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu)]

NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu)

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.778A>C (p.Met260Leu)

HGVS:

NC_000019.10:g.10986922A>C
NG_011556.3:g.30991A>C
NM_001128844.3:c.778A>C
NM_001128845.2:c.778A>C
NM_001128846.2:c.778A>C
NM_001128847.4:c.778A>C
NM_001128848.2:c.778A>C
NM_001128849.3:c.778A>C
NM_001374457.1:c.778A>C
NM_001387283.1:c.778A>C
NM_003072.5:c.778A>CMANE SELECT
NP_001122316.1:p.Met260Leu
NP_001122317.1:p.Met260Leu
NP_001122318.1:p.Met260Leu
NP_001122319.1:p.Met260Leu
NP_001122320.1:p.Met260Leu
NP_001122321.1:p.Met260Leu
NP_001361386.1:p.Met260Leu
NP_001374212.1:p.Met260Leu
NP_003063.2:p.Met260Leu
LRG_878t1:c.778A>C
LRG_878:g.30991A>C
LRG_878p1:p.Met260Leu
NC_000019.9:g.11097598A>C
NG_011556.2:g.31001A>C
NM_001128849.1:c.778A>C
NR_164683.1:n.954A>C

Protein change:

M260L

Links:

dbSNP: rs1064795842

NCBI 1000 Genomes Browser:

rs1064795842

Molecular consequence:

NM_001128844.3:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128845.2:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128846.2:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128847.4:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128848.2:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128849.3:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374457.1:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387283.1:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003072.5:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_164683.1:n.954A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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
SCV000572030	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 3, 2023)	germline	clinical testing	Citation Link,
SCV001151643	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Mar 1, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000572030

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 3, 2023)

germline

clinical testing

Citation Link,

SCV001151643

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Mar 1, 2018)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000572030.4

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27930734)

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

From CeGaT Center for Human Genetics Tuebingen, SCV001151643.27

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

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

Last Updated: Oct 20, 2024

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