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NM_007241.4(SNF8):c.673_683delinsTGGA (p.Asp225fs) AND Neurodevelopmental disorder plus optic atrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 10, 2024
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:
RCV004011323.1

Allele description [Variation Report for NM_007241.4(SNF8):c.673_683delinsTGGA (p.Asp225fs)]

NM_007241.4(SNF8):c.673_683delinsTGGA (p.Asp225fs)

Gene:
SNF8:SNF8 subunit of ESCRT-II [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17q21.32
Genomic location:
Preferred name:
NM_007241.4(SNF8):c.673_683delinsTGGA (p.Asp225fs)
HGVS:
  • NC_000017.11:g.48930569_48930579delinsTCCA
  • NM_001317192.2:c.670_680delinsTGGA
  • NM_001317193.2:c.622_632delinsTGGA
  • NM_001317194.2:c.361_371delinsTGGA
  • NM_007241.4:c.673_683delinsTGGAMANE SELECT
  • NP_001304121.1:p.Asp224fs
  • NP_001304122.1:p.Asp208fs
  • NP_001304123.1:p.Asp121fs
  • NP_009172.2:p.Asp225fs
  • NC_000017.10:g.47007931_47007941delinsTCCA
  • NM_007241.4:c.673-683delinsTGGAMANE SELECT
  • NR_133679.2:n.820_830delinsTGGA
Protein change:
D121fs
Links:
OMIM: 610904.0007
Molecular consequence:
  • NM_001317192.2:c.670_680delinsTGGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317193.2:c.622_632delinsTGGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317194.2:c.361_371delinsTGGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007241.4:c.673_683delinsTGGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_133679.2:n.820_830delinsTGGA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Neurodevelopmental disorder plus optic atrophy
Identifiers:
MONDO: MONDO:0968947; MedGen: CN377627; OMIM: 620784

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004812258OMIM
no assertion criteria provided
Pathogenic
(Apr 10, 2024) 		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

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, et al.

Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28.

PubMed [citation]
PMID:
38423010
PMCID:
PMC10940020

Details of each submission

From OMIM, SCV004812258.1

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

Description

For discussion of the c.673_683delinsTGGA mutation (c.673-683delinsTGGA, NM_007241.4) in the SNF8 gene, predicted to result in a frameshift and premature termination (Asp225TrpfsTer99), that was identified in compound heterozygous state in sibs (patients E1 and E2) with neurodevelopmental disorder plus optic atrophy (NEDOA; 620784) by Brugger et al. (2024), see 610904.0005.

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

Last Updated: Jun 23, 2024