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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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001406554Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 19, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024