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NM_001330288.2(SMARCC2):c.2779A>G (p.Met927Val) AND Coffin-Siris syndrome 8

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 5, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000761376.3

Allele description [Variation Report for NM_001330288.2(SMARCC2):c.2779A>G (p.Met927Val)]

NM_001330288.2(SMARCC2):c.2779A>G (p.Met927Val)

Gene:
SMARCC2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.2
Genomic location:
Preferred name:
NM_001330288.2(SMARCC2):c.2779A>G (p.Met927Val)
HGVS:
  • NC_000012.12:g.56168131T>C
  • NG_047081.1:g.26437A>G
  • NM_001130420.3:c.2779A>G
  • NM_001330288.2:c.2779A>GMANE SELECT
  • NM_003075.5:c.2686A>G
  • NM_139067.4:c.2779A>G
  • NP_001123892.1:p.Met927Val
  • NP_001317217.1:p.Met927Val
  • NP_003066.2:p.Met896Val
  • NP_620706.1:p.Met927Val
  • NC_000012.11:g.56561915T>C
  • NM_003075.3:c.2686A>G
  • NM_003075.4:c.2686A>G
Protein change:
M896V; MET896VAL
Links:
OMIM: 601734.0005; dbSNP: rs1565896447
NCBI 1000 Genomes Browser:
rs1565896447
Molecular consequence:
  • NM_001130420.3:c.2779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330288.2:c.2779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003075.5:c.2686A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139067.4:c.2779A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Coffin-Siris syndrome 8
Identifiers:
MONDO: MONDO:0032702; MedGen: C5193054; OMIM: 618362

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000891368OMIM
no assertion criteria provided
Pathogenic
(Apr 5, 2019) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, et al.

Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20.

PubMed [citation]
PMID:
30580808
PMCID:
PMC6323608

Details of each submission

From OMIM, SCV000891368.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an 8-year-old male (patient 13) with Coffin-Siris syndrome-8 (CSS8; 618362), Machol et al. (2019) reported a heterozygous de novo c.2686A-G transition (c.2686A-G, NM_003075.3) in exon 25 of the SMARCC2 gene, resulting in a met896-to-val substitution (M896V).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022