NM_152743.4(BRAT1):c.1492del (p.Leu498fs) AND Rigidity and multifocal seizure syndrome, lethal neonatal

Clinical significance:Pathogenic (Last evaluated: Feb 2, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001052109.2

Allele description [Variation Report for NM_152743.4(BRAT1):c.1492del (p.Leu498fs)]

NM_152743.4(BRAT1):c.1492del (p.Leu498fs)

Gene:
BRAT1:BRCA1 associated ATM activator 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p22.3
Genomic location:
Preferred name:
NM_152743.4(BRAT1):c.1492del (p.Leu498fs)
HGVS:
  • NC_000007.14:g.2539793del
  • NG_032167.1:g.20967del
  • NM_001350626.2:c.1492del
  • NM_001350627.2:c.967del
  • NM_152743.4:c.1492delMANE SELECT
  • NP_001337555.1:p.Leu498fs
  • NP_001337556.1:p.Leu323fs
  • NP_689956.2:p.Leu498fs
  • NC_000007.13:g.2579426del
  • NC_000007.13:g.2579427del
  • NM_152743.3:c.1492del
  • NR_146879.2:n.1675del
Protein change:
L323fs
Links:
Molecular consequence:
  • NM_001350626.2:c.1492del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350627.2:c.967del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_152743.4:c.1492del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_146879.2:n.1675del - 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
SCV001216303Invitaecriteria provided, single submitter
Pathogenic
(Feb 2, 2019)
germlineclinical testing

PubMed (3)
[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

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

Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.

Straussberg R, Ganelin-Cohen E, Goldberg-Stern H, Tzur S, Behar DM, Smirin-Yosef P, Salmon-Divon M, Basel-Vanagaite L.

Eur J Paediatr Neurol. 2015 Mar;19(2):240-2. doi: 10.1016/j.ejpn.2014.11.004. Epub 2014 Nov 29.

PubMed [citation]
PMID:
25500575
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001216303.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Leu498Serfs*19) in the BRAT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRAT1-related conditions. 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 10, 2021

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