NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jul 1, 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:: RCV001705089.13

Allele description

NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=)

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.1791T>G (p.Pro597=)

HGVS:

NC_000019.10:g.10996523T>G
NG_011556.3:g.40592T>G
NM_001128844.3:c.1791T>G
NM_001128845.2:c.1791T>G
NM_001128846.2:c.1791T>G
NM_001128847.4:c.1791T>G
NM_001128848.2:c.1791T>G
NM_001128849.3:c.1791T>G
NM_001374457.1:c.1791T>G
NM_001387283.1:c.1791T>G
NM_003072.5:c.1791T>GMANE SELECT
NP_001122316.1:p.Pro597=
NP_001122317.1:p.Pro597=
NP_001122318.1:p.Pro597=
NP_001122319.1:p.Pro597=
NP_001122320.1:p.Pro597=
NP_001122321.1:p.Pro597=
NP_001361386.1:p.Pro597=
NP_001374212.1:p.Pro597=
NP_003063.2:p.Pro597=
LRG_878t1:c.1791T>G
LRG_878:g.40592T>G
LRG_878p1:p.Pro597=
NC_000019.9:g.11107199T>G
NG_011556.2:g.40602T>G
NM_001128849.1:c.1791T>G
NR_164683.1:n.1967T>G

Links:

dbSNP: rs141806282

NCBI 1000 Genomes Browser:

rs141806282

Molecular consequence:

NR_164683.1:n.1967T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001128844.3:c.1791T>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001128845.2:c.1791T>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001128846.2:c.1791T>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001128847.4:c.1791T>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001128848.2:c.1791T>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001128849.3:c.1791T>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001374457.1:c.1791T>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001387283.1:c.1791T>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003072.5:c.1791T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Effect of cortisol on S. Typhimurium parental strain and an isogenic scsA mutant

BioProject
DUF2723 domain-containing protein [Mucilaginibacter celer]
DUF2723 domain-containing protein [Mucilaginibacter celer]
gi|1480058670|ref|WP_119410905.1|

Protein
PREDICTED: Balaenoptera acutorostrata cyclin G2 (CCNG2), transcript variant X2, ...
PREDICTED: Balaenoptera acutorostrata cyclin G2 (CCNG2), transcript variant X2, mRNA
gi|2526677587|ref|XM_057547395.1|

Nucleotide
Cylindrospermopsis raciborskii cyAF-8 16S ribosomal RNA gene, partial sequence; ...
Cylindrospermopsis raciborskii cyAF-8 16S ribosomal RNA gene, partial sequence; 16S-23S ribosomal RNA intergenic spacer, complete sequence; and 23S ribosomal RNA gene, partial sequence
gi|1524833914|gb|MK244667.1|

Nucleotide
PREDICTED: Homo sapiens leucine rich repeat containing 71 (LRRC71), transcript v...
PREDICTED: Homo sapiens leucine rich repeat containing 71 (LRRC71), transcript variant X7, mRNA
gi|2462505209|ref|XM_054334681.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000529853	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Oct 5, 2021)	germline	clinical testing	Citation Link,
SCV004139556	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jul 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000529853

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Oct 5, 2021)

germline

clinical testing

Citation Link,

SCV004139556

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Likely benign
(Jul 1, 2023)

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	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000529853.6

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

From CeGaT Center for Human Genetics Tuebingen, SCV004139556.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

SMARCA4: BP4, BP7

#	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		2	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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