chr9:2086950:C>T Detail (hg38) (SMARCA2)

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

Genome

Assembly	Position
hg19	chr9:2,086,950-2,086,950 View the variant detail on this assembly version.
hg38	chr9:2,086,950-2,086,950

HGVS

SMARCA2

Type	Transcript	Protein
RefSeq	NM_003070.4:c.2648C>T	NP_003061.3:p.Pro883Leu
	NM_139045.3:c.2648C>T	NP_620614.2:p.Pro883Leu
	NM_001289396.1:c.2648C>T	NP_001276325.1:p.Pro883Leu
	NM_001289397.1:c.2595+53C>T
Ensemble	ENST00000349721.8:c.2648C>T	ENST00000349721.8:p.Pro883Leu
	ENST00000357248.8:c.2648C>T	ENST00000357248.8:p.Pro883Leu
	ENST00000382194.6:c.2648C>T	ENST00000382194.6:p.Pro883Leu
	ENST00000382203.5:c.2648C>T	ENST00000382203.5:p.Pro883Leu
	ENST00000450198.6:c.2595+53C>T
	ENST00000704350.1:c.2288C>T	ENST00000704350.1:p.Pro763Leu
	ENST00000704352.1:c.1173+32227C>T
	ENST00000704353.1:c.1173+32227C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

SMARCA2

Type	Database	ID	Link
Gene	MIM	600014	OMIM
	HGNC	11098	HGNC
	Ensembl	ENSG00000080503	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM3765446	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-07-26	criteria provided, single submitter	Nicolaides-Baraitser syndrome	germline de novo	Detail
Pathogenic	2022-11-23	criteria provided, multiple submitters, no conflicts	not provided	not provided germline	Detail
Pathogenic	2021-06-10	criteria provided, single submitter	SMARCA2-related BAFopathy	de novo	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.481	Nicolaides Baraitser syndrome	NA	CLINVAR		Detail
0.481	Nicolaides Baraitser syndrome	Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.	UNIPROT	22366787	Detail

Annotation

Annotations

Descrption	Source	Links
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) AND Nicolaides-Baraitser syndrome	ClinVar	Detail
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) AND not provided	ClinVar	Detail
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) AND SMARCA2-related BAFopathy	ClinVar	Detail
NA	DisGeNET	Detail
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.	DisGeNET	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: rs281875188 dbSNP
Genome: hg38
Position: chr9:2,086,950-2,086,950
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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