chr19:11007922:G>A Detail (hg38) (SMARCA4)

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

Information

Genome

Assembly	Position
hg19	chr19:11,118,598-11,118,598 View the variant detail on this assembly version.
hg38	chr19:11,007,922-11,007,922

HGVS

SMARCA4

Type	Transcript	Protein
RefSeq	NM_003072.3:c.2022G>A	NP_003063.2:p.Pro674=
	NM_001128844.1:c.2022G>A	NP_001122316.1:p.Pro674=
	NM_001128845.1:c.2022G>A	NP_001122317.1:p.Pro674=
	NM_001128847.1:c.2022G>A	NP_001122319.1:p.Pro674=
	NM_001128848.1:c.2022G>A	NP_001122320.1:p.Pro674=
Ensemble	ENST00000344626.10:c.2022G>A	ENST00000344626.10:p.Pro674=
	ENST00000429416.8:c.2022G>A	ENST00000429416.8:p.Pro674=
	ENST00000444061.8:c.2022G>A	ENST00000444061.8:p.Pro674=
	ENST00000541122.6:c.2022G>A	ENST00000541122.6:p.Pro674=
	ENST00000589677.5:c.2022G>A	ENST00000589677.5:p.Pro674=
	ENST00000590574.6:c.2022G>A	ENST00000590574.6:p.Pro674=
	ENST00000642628.1:c.2022G>A	ENST00000642628.1:p.Pro674=
	ENST00000642726.1:c.2022G>A	ENST00000642726.1:p.Pro674=
	ENST00000643296.1:c.2022G>A	ENST00000643296.1:p.Pro674=
	ENST00000643549.1:c.2022G>A	ENST00000643549.1:p.Pro674=
	ENST00000644737.1:c.2022G>A	ENST00000644737.1:p.Pro674=
	ENST00000645460.1:c.2022G>A	ENST00000645460.1:p.Pro674=
	ENST00000646484.1:c.2022G>A	ENST00000646484.1:p.Pro674=
	ENST00000646510.1:c.2022G>A	ENST00000646510.1:p.Pro674=
	ENST00000646693.2:c.2022G>A	ENST00000646693.2:p.Pro674=
	ENST00000647230.1:c.2022G>A	ENST00000647230.1:p.Pro674=
	ENST00000711079.1:c.2022G>A	ENST00000711079.1:p.Pro674=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Benign Likely benign
Review star
Show details

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	COSM990743	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2023-11-18	criteria provided, single submitter	Rhabdoid tumor predisposition syndrome 2	germline	Detail
Benign Likely benign	2021-04-28	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_003072.5(SMARCA4):c.2022G>A (p.Pro674=) AND Rhabdoid tumor predisposition syndrome 2	ClinVar	Detail
NM_003072.5(SMARCA4):c.2022G>A (p.Pro674=) AND Hereditary cancer-predisposing syndrome	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: rs539865173 dbSNP
Genome: hg38
Position: chr19:11,007,922-11,007,922
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8620
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120760
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.484266313348791E-5

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