NM_004260.4(RECQL4):c.728AAG[1] (p.Glu244del) AND Baller-Gerold syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 19, 2019
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:: RCV001233935.4

Allele description [Variation Report for NM_004260.4(RECQL4):c.728AAG[1] (p.Glu244del)]

NM_004260.4(RECQL4):c.728AAG[1] (p.Glu244del)

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.728AAG[1] (p.Glu244del)

HGVS:

NC_000008.11:g.144516386CTT[1]
NG_016430.1:g.6436AAG[1]
NG_033083.1:g.3422CTT[1]
NM_004260.4:c.728AAG[1]MANE SELECT
NP_004251.4:p.Glu244del
LRG_277t1:c.728AAG[1]
LRG_277p1:p.Glu244del
NC_000008.10:g.145741770CTT[1]
NC_000008.10:g.145741770_145741772del
NM_004260.3:c.731_733del

Protein change:

E244del

Links:

dbSNP: rs1814996685

NCBI 1000 Genomes Browser:

rs1814996685

Molecular consequence:

NM_004260.4:c.728AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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

Recent activity

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LINC02142 long intergenic non-protein coding RNA 2142 [Homo sapiens]
LINC02142 long intergenic non-protein coding RNA 2142 [Homo sapiens]
Gene ID:105374644

Gene
LINC02142 AND (alive[prop]) (1)
Gene
inhibitor of growth protein 4 isoform X2 [Rattus norvegicus]
inhibitor of growth protein 4 isoform X2 [Rattus norvegicus]
gi|564348928|ref|XP_006237412.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001406554	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 19, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001406554

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 19, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001406554.3

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

Description

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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with RECQL4-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.731_733del, results in the deletion of one amino acid of the RECQL4 protein (p.Glu244del), but otherwise preserves the integrity of the reading frame.

#	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: Sep 29, 2024

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