NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter) AND Rigidity and multifocal seizure syndrome, lethal neonatal

Clinical significance:Pathogenic (Last evaluated: Dec 2, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000184043.1

Allele description [Variation Report for NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter)]

NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter)

Gene:
BRAT1:BRCA1 associated ATM activator 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p22.3
Genomic location:
Preferred name:
NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter)
HGVS:
  • NC_000007.14:g.2538678C>T
  • NG_032167.1:g.22081G>A
  • NM_001350626.2:c.2037G>A
  • NM_001350627.2:c.1332G>A
  • NM_152743.4:c.1857G>AMANE SELECT
  • NP_001337555.1:p.Trp679Ter
  • NP_001337556.1:p.Trp444Ter
  • NP_689956.2:p.Trp619Ter
  • NC_000007.13:g.2578312C>T
  • NR_146879.2:n.2040G>A
Protein change:
W444*
Links:
dbSNP: rs794729222
NCBI 1000 Genomes Browser:
rs794729222
Molecular consequence:
  • NR_146879.2:n.2040G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001350626.2:c.2037G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350627.2:c.1332G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_152743.4:c.1857G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL)
Identifiers:
MONDO: MONDO:0013784; MedGen: C3281029; Orphanet: 435845; OMIM: 614498

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000236574Mendelicsno assertion criteria providedPathogenic
(Dec 2, 2013)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genetic mapping and exome sequencing identify variants associated with five novel diseases.

Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, et al.

PLoS One. 2012;7(1):e28936. doi: 10.1371/journal.pone.0028936. Epub 2012 Jan 17.

PubMed [citation]
PMID:
22279524
PMCID:
PMC3260153

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, et al.

Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041.

PubMed [citation]
PMID:
23035047
PMCID:
PMC4283791

Details of each submission

From Mendelics, SCV000236574.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 29, 2020

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