NM_003073.5(SMARCB1):c.1118+1G>A AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 28, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001390393.14

Allele description [Variation Report for NM_003073.5(SMARCB1):c.1118+1G>A]

NM_003073.5(SMARCB1):c.1118+1G>A

Gene:

SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.23

Genomic location:

Preferred name:

NM_003073.5(SMARCB1):c.1118+1G>A

HGVS:

NC_000022.11:g.23833704G>A
NG_009303.1:g.51742G>A
NM_001007468.3:c.1091+1G>A
NM_001317946.2:c.1145+1G>A
NM_001362877.2:c.1172+1G>A
NM_003073.5:c.1118+1G>AMANE SELECT
LRG_520t1:c.1118+1G>A
LRG_520:g.51742G>A
NC_000022.10:g.24175891G>A
NM_003073.3:c.1118+1G>A

Links:

dbSNP: rs1555881586

NCBI 1000 Genomes Browser:

rs1555881586

Molecular consequence:

NM_001007468.3:c.1091+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001317946.2:c.1145+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001362877.2:c.1172+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_003073.5:c.1118+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001592112	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 28, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 30576819, 19912265, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001592112

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 28, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Detection of Germline Mutations of the SMARCB1 Gene in a Chinese Family with Intraspinal Schwannomatosis.

Ding Y, Rong H, Wang Y, Liu T, Zhang J, Li S, Wang Z, Wang Y, Zhu T.

World Neurosurg. 2019 Mar;123:318-322. doi: 10.1016/j.wneu.2018.11.254. Epub 2018 Dec 18.

PubMed [citation]

PMID:: 30576819

SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis.

Hulsebos TJ, Kenter SB, Jakobs ME, Baas F, Chong B, Delatycki MB.

Clin Genet. 2010 Jan;77(1):86-91. doi: 10.1111/j.1399-0004.2009.01249.x. Epub 2009 Nov 3.

PubMed [citation]

PMID:: 19912265

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001592112.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change affects a donor splice site in intron 8 of the SMARCB1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with schwannomatosis (PMID: 19912265, 30576819). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 464317). Studies have shown that disruption of this splice site results in skipping of exon 8, but is expected to preserve the integrity of the reading-frame (PMID: 19912265). For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 18, 2024

ClinVar

Relating variation to medicine