NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs) AND Rigidity and multifocal seizure syndrome, lethal neonatal

Clinical significance:Pathogenic (Last evaluated: Oct 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001386843.1

Allele description [Variation Report for NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs)]

NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs)

Gene:
BRAT1:BRCA1 associated ATM activator 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7p22.3
Genomic location:
Preferred name:
NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs)
HGVS:
  • NC_000007.14:g.2543940GA[2]AGATG[1]
  • NG_032167.1:g.16819_16820insATCTTCTC
  • NM_001350626.2:c.453_454insATCTTCTC
  • NM_001350627.2:c.-73_-72insATCTTCTC
  • NM_152743.4:c.453_454insATCTTCTCMANE SELECT
  • NP_001337555.1:p.Leu152fs
  • NP_689956.2:p.Leu152fs
  • NC_000007.13:g.2583573_2583574insGAGAAGAT
  • NC_000007.13:g.2583574GA[2]AGATG[1]
  • NR_146879.2:n.512_513insATCTTCTC
Protein change:
L152fs
Links:
Molecular consequence:
  • NM_001350627.2:c.-73_-72insATCTTCTC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350626.2:c.453_454insATCTTCTC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_152743.4:c.453_454insATCTTCTC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_146879.2:n.512_513insATCTTCTC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001587215Invitaecriteria provided, single submitter
Pathogenic
(Oct 9, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

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

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
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001587215.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Leu152Ilefs*70) in the BRAT1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs727505362, ExAC 0.04%). This variant has been observed in individual(s) with clinical features of neonatal-lethal rigidity and multifocal seizure syndrome (PMID: 23035047). Loss-of-function variants in BRAT1 are known to be pathogenic (PMID: 22279524, 25500575). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: May 14, 2021

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