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NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) AND Baller-Gerold syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 25, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000539216.8

Allele description [Variation Report for NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs)]

NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs)

Gene:
RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs)
HGVS:
  • NC_000008.11:g.144515855AC[1]
  • NG_016430.2:g.6969GT[1]
  • NG_033083.1:g.2891AC[1]
  • NM_004260.4:c.1166_1167delMANE SELECT
  • NP_004251.4:p.Cys389fs
  • LRG_277t1:c.1166_1167del
  • LRG_277:g.6969GT[1]
  • LRG_277p1:p.Cys389fs
  • NC_000008.10:g.145741239AC[1]
  • NC_000008.10:g.145741239_145741240del
  • NG_016430.1:g.6969GT[1]
  • NM_004260.3:c.1166_1167del
  • NM_004260.3:c.1166_1167delGT
  • NM_004260.4:c.1166_1167delGTMANE SELECT
Protein change:
C389fs
Links:
dbSNP: rs34134064
NCBI 1000 Genomes Browser:
rs34134064
Molecular consequence:
  • NM_004260.4:c.1166_1167del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Baller-Gerold syndrome (BGS)
Synonyms:
Craniosynostosis radial aplasia syndrome; Craniosynostosis with radial defects
Identifiers:
MONDO: MONDO:0009039; MedGen: C0265308; Orphanet: 1225; OMIM: 218600

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000630992Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 25, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE.

J Natl Cancer Inst. 2003 May 7;95(9):669-74.

PubMed [citation]
PMID:
12734318

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.

Siitonen HA, Kopra O, Kääriäinen H, Haravuori H, Winter RM, Säämänen AM, Peltonen L, Kestilä M.

Hum Mol Genet. 2003 Nov 1;12(21):2837-44. Epub 2003 Sep 2.

PubMed [citation]
PMID:
12952869
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000630992.7

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

Description

This sequence change creates a premature translational stop signal (p.Cys389Phefs*33) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). This variant is present in population databases (rs34134064, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 459307). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: Sep 29, 2024