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NM_004260.4(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 21, 2021
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:
RCV001816888.4

Allele description [Variation Report for NM_004260.4(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del)]

NM_004260.4(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del)

Gene:
RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_004260.4(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del)
HGVS:
  • NC_000008.11:g.144511462_144511485del
  • NG_016430.2:g.11343_11366del
  • NM_004260.4:c.3574_3597delMANE SELECT
  • NP_004251.3:p.Phe1192_Ala1199del
  • NP_004251.4:p.Phe1192_Ala1199del
  • LRG_277t1:c.3574_3597del
  • LRG_277:g.11343_11366del
  • LRG_277p1:p.Phe1192_Ala1199del
  • NC_000008.10:g.145736844_145736867del
  • NC_000008.10:g.145736845_145736868del
  • NG_016430.1:g.11343_11366del
  • NM_004260.3:c.3574_3597del
  • NM_004260.3:c.3574_3597delTTCCATGCCCTGGTGGGCCTGGCC
Links:
dbSNP: rs758966528
NCBI 1000 Genomes Browser:
rs758966528
Molecular consequence:
  • NM_004260.4:c.3574_3597del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002065899Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 21, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV002065899.1

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

Description

DNA sequence analysis of the RECQL4 demonstrated a 24 base pair deletion in exon 21, c.3574_3597del. This in-frame deletion is predicted to result in the deletion of 8 amino acid residues, p.Phe1192_Ala1199del. This deletion does not appear to have been previously described in individuals with RECQL4 -related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.0027% in the non-Finnish European subpopulation (dbSNP rs758966528). The functional significance of this sequence change is not known at present and its contribution to this individual's disease phenotype cannot definitively be determined.

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

Last Updated: Sep 29, 2024