NM_004260.4(RECQL4):c.1924GCCACA[3] (p.642AT[3]) AND Baller-Gerold syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 26, 2022
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:: RCV000634302.3

Allele description [Variation Report for NM_004260.4(RECQL4):c.1924GCCACA[3] (p.642AT[3])]

NM_004260.4(RECQL4):c.1924GCCACA[3] (p.642AT[3])

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.1924GCCACA[3] (p.642AT[3])

HGVS:

NC_000008.11:g.144514055GCTGTG[3]
NG_016430.2:g.8765GCCACA[3]
NG_033083.1:g.1091GCTGTG[3]
NM_004260.4:c.1924GCCACA[3]MANE SELECT
NP_004251.4:p.642AT[3]
LRG_277t1:c.1924GCCACA[3]
LRG_277:g.8765GCCACA[3]
LRG_277p1:p.642AT[3]
NC_000008.10:g.145739434_145739435insTGTGGC
NC_000008.10:g.145739439GCTGTG[3]
NG_016430.1:g.8765GCCACA[3]

Links:

dbSNP: rs781471399

NCBI 1000 Genomes Browser:

rs781471399

Molecular consequence:

NM_004260.4:c.1924GCCACA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV000755605	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 26, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27247962, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000755605

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 26, 2022)

germline

clinical testing

PubMed (2)
[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

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Suter AA, Itin P, Heinimann K, Ahmed M, Ashraf T, Fryssira H, Kini U, Lapunzina P, Miny P, Sommerlund M, Suri M, Vaeth S, Vasudevan P, Gallati S.

Mol Genet Genomic Med. 2016 May;4(3):359-66. doi: 10.1002/mgg3.209.

PubMed [citation]

PMID:: 27247962
PMCID:: PMC4867568

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000755605.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with Rothmund-Thomson syndrome (PMID: 27247962). This variant is not present in population databases (gnomAD no frequency). This variant, c.1930_1935dup, is a complex sequence change that results in the insertion of 2 amino acid(s) in the RECQL4 protein (p.Ala644_Thr645dup). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Feb 14, 2024

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