chr19:11113784:C>T 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	chr19:11,113,784-11,113,784
hg38	chr19:11,003,108-11,003,108 View the variant detail on this assembly version.

HGVS

SMARCA4

Type	Transcript	Protein
RefSeq	NM_003072.3:c.1892C>T	NP_003063.2:p.Thr631Ile
	NM_001128844.1:c.1892C>T	NP_001122316.1:p.Thr631Ile
	NM_001128845.1:c.1892C>T	NP_001122317.1:p.Thr631Ile
	NM_001128847.1:c.1892C>T	NP_001122319.1:p.Thr631Ile
	NM_001128848.1:c.1892C>T	NP_001122320.1:p.Thr631Ile
Ensemble	ENST00000344626.10:c.1892C>T	ENST00000344626.10:p.Thr631Ile
	ENST00000429416.8:c.1892C>T	ENST00000429416.8:p.Thr631Ile
	ENST00000444061.8:c.1892C>T	ENST00000444061.8:p.Thr631Ile
	ENST00000541122.6:c.1892C>T	ENST00000541122.6:p.Thr631Ile
	ENST00000589677.5:c.1892C>T	ENST00000589677.5:p.Thr631Ile
	ENST00000590574.6:c.1892C>T	ENST00000590574.6:p.Thr631Ile
	ENST00000642628.1:c.1892C>T	ENST00000642628.1:p.Thr631Ile
	ENST00000642726.1:c.1892C>T	ENST00000642726.1:p.Thr631Ile
	ENST00000643296.1:c.1892C>T	ENST00000643296.1:p.Thr631Ile
	ENST00000643549.1:c.1892C>T	ENST00000643549.1:p.Thr631Ile
	ENST00000644737.1:c.1892C>T	ENST00000644737.1:p.Thr631Ile
	ENST00000645460.1:c.1892C>T	ENST00000645460.1:p.Thr631Ile
	ENST00000646484.1:c.1892C>T	ENST00000646484.1:p.Thr631Ile
	ENST00000646510.1:c.1892C>T	ENST00000646510.1:p.Thr631Ile
	ENST00000646693.2:c.1892C>T	ENST00000646693.2:p.Thr631Ile
	ENST00000647230.1:c.1892C>T	ENST00000647230.1:p.Thr631Ile
	ENST00000711079.1:c.1892C>T	ENST00000711079.1:p.Thr631Ile

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2024-02-19	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2024-01-24	criteria provided, multiple submitters, no conflicts	Rhabdoid tumor predisposition syndrome 2	germline unknown	Detail
Uncertain significance	2021-07-15	criteria provided, single submitter	Intellectual disability, autosomal dominant 16	germline	Detail
Uncertain significance	2023-03-19	criteria provided, single submitter	SMARCA4-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile) AND Rhabdoid tumor predisposition syndrome 2	ClinVar	Detail
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile) AND Intellectual disability, autosomal dominant 16	ClinVar	Detail
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile) AND SMARCA4-related disorder	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: rs1555768365 dbSNP
Genome: hg19
Position: chr19:11,113,784-11,113,784
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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