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:: RCV000539216.7

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000630992	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 25, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12734318, 12952869, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000630992

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 25, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Invitae, SCV000630992.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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