NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) AND SMARCB1-related BAFopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 10, 2021
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:: RCV001533135.2

Allele description [Variation Report for NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)]

NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)

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.1089G>T (p.Lys363Asn)

HGVS:

NC_000022.11:g.23833674G>T
NG_009303.1:g.51712G>T
NM_001007468.3:c.1062G>T
NM_001317946.2:c.1116G>T
NM_001362877.2:c.1143G>T
NM_003073.5:c.1089G>TMANE SELECT
NP_001007469.1:p.Lys354Asn
NP_001304875.1:p.Lys372Asn
NP_001349806.1:p.Lys381Asn
NP_003064.2:p.Lys363Asn
LRG_520:g.51712G>T
NC_000022.10:g.24175861G>T
NM_003073.3:c.1089G>T
NM_003073.4:c.1089G>T

Protein change:

K354N

Links:

dbSNP: rs1568963037

NCBI 1000 Genomes Browser:

rs1568963037

Molecular consequence:

NM_001007468.3:c.1062G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001317946.2:c.1116G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001362877.2:c.1143G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003073.5:c.1089G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: SMARCB1-related BAFopathy
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001748955	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 10, 2021)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001748955

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 10, 2021)

de novo

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV001748955.1

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

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

Last Updated: Jun 23, 2024

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