U.S. flag

An official website of the United States government

NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 11, 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:
RCV002504820.8

Allele description [Variation Report for NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)]

NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)

Gene:
SMARCB1:SWI/SNF related BAF chromatin remodeling complex subunit B1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
22q11.23
Genomic location:
Preferred name:
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
HGVS:
  • NC_000022.10:g.24175857_24175859del
  • NC_000022.11:g.23833670AGA[2]
  • NG_009303.1:g.51708AGA[2]
  • NM_001007468.3:c.1058AGA[2]
  • NM_001317946.2:c.1112AGA[2]
  • NM_001362877.2:c.1139AGA[2]
  • NM_003073.5:c.1085AGA[2]MANE SELECT
  • NP_001007469.1:p.Lys355del
  • NP_001304875.1:p.Lys373del
  • NP_001349806.1:p.Lys382del
  • NP_003064.2:p.Lys364del
  • NP_003064.2:p.Lys364del
  • LRG_520t1:c.1091_1093del
  • LRG_520:g.51708AGA[2]
  • LRG_520p1:p.Lys364del
  • NC_000022.10:g.24175857AGA[2]
  • NC_000022.10:g.24175857_24175859del
  • NC_000022.10:g.24175857_24175859delAGA
  • NM_003073.3:c.1091_1093del
  • NM_003073.3:c.1091_1093delAGA
  • NM_003073.5:c.1091_1093delMANE SELECT
Protein change:
K355del
Links:
OMIM: 601607.0012; dbSNP: rs875989800
NCBI 1000 Genomes Browser:
rs875989800
Molecular consequence:
  • NM_001007468.3:c.1058AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001317946.2:c.1112AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001362877.2:c.1139AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_003073.5:c.1085AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Schwannomatosis 1 (SWN1)
Synonyms:
Neurilemmomatosis congenital cutaneous
Identifiers:
MONDO: MONDO:0024517; MedGen: C4048809; Orphanet: 93921; OMIM: 162091
Name:
Rhabdoid tumor predisposition syndrome 1 (RTPS1)
Synonyms:
Familial Posterior Fossa Brain Tumor of Infancy
Identifiers:
MONDO: MONDO:0012252; MedGen: C1836327; Orphanet: 231108; Orphanet: 69077; OMIM: 609322
Name:
Intellectual disability, autosomal dominant 15 (CSS3)
Synonyms:
COFFIN-SIRIS SYNDROME 3
Identifiers:
MONDO: MONDO:0013820; MedGen: C3553248; Orphanet: 1465; OMIM: 614608

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002800766Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 11, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics, Fulgent Genetics, SCV002800766.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024