chr19:11169011:G>A Detail (hg19) (SMARCA4)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr19:11,169,011-11,169,011
hg38	chr19:11,058,335-11,058,335 View the variant detail on this assembly version.

HGVS

SMARCA4

Type	Transcript	Protein
RefSeq	NM_003072.3:c.4505G>A	NP_003063.2:p.Arg1502His
	NM_001128844.1:c.4505G>A	NP_001122316.1:p.Arg1502His
	NM_001128845.1:c.4406G>A	NP_001122317.1:p.Arg1469His
	NM_001128847.1:c.4406G>A	NP_001122319.1:p.Arg1469His
	NM_001128848.1:c.4406G>A	NP_001122320.1:p.Arg1469His
Ensemble	ENST00000541122.6:c.4415G>A	ENST00000541122.6:p.Arg1472His
	ENST00000344626.10:c.4505G>A	ENST00000344626.10:p.Arg1502His
	ENST00000429416.8:c.4505G>A	ENST00000429416.8:p.Arg1502His
	ENST00000444061.8:c.4403G>A	ENST00000444061.8:p.Arg1468His
	ENST00000589677.5:c.4412G>A	ENST00000589677.5:p.Arg1471His
	ENST00000590574.6:c.4406G>A	ENST00000590574.6:p.Arg1469His
	ENST00000642628.1:c.4502G>A	ENST00000642628.1:p.Arg1501His
	ENST00000642726.1:c.4502G>A	ENST00000642726.1:p.Arg1501His
	ENST00000643296.1:c.4415G>A	ENST00000643296.1:p.Arg1472His
	ENST00000643549.1:c.4511G>A	ENST00000643549.1:p.Arg1504His
	ENST00000644737.1:c.4415G>A	ENST00000644737.1:p.Arg1472His
	ENST00000645460.1:c.4403G>A	ENST00000645460.1:p.Arg1468His
	ENST00000646484.1:c.4406G>A	ENST00000646484.1:p.Arg1469His
	ENST00000646510.1:c.4406G>A	ENST00000646510.1:p.Arg1469His
	ENST00000646693.2:c.4601G>A	ENST00000646693.2:p.Arg1534His
	ENST00000647230.1:c.4406G>A	ENST00000647230.1:p.Arg1469His
	ENST00000711079.1:c.4601G>A	ENST00000711079.1:p.Arg1534His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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Links

SMARCA4

Type	Database	ID	Link
Gene	MIM	603254	OMIM
	HGNC	11100	HGNC
	Ensembl	ENSG00000127616	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM4728298	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-10-10	criteria provided, multiple submitters, no conflicts	Rhabdoid tumor predisposition syndrome 2	germline unknown	Detail
Likely benign	2024-03-13	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2021-07-15	criteria provided, single submitter	Intellectual disability, autosomal dominant 16	germline	Detail
Uncertain significance	2023-09-06	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His) AND Rhabdoid tumor predisposition syndrome 2	ClinVar	Detail
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His) AND Intellectual disability, autosomal dominant 16	ClinVar	Detail
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His) AND not provided	ClinVar	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1555795063 dbSNP
Genome: hg19
Position: chr19:11,169,011-11,169,011
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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