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NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 13, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003150992.2

Allele description [Variation Report for NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys)]

NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys)

Gene:
RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys)
HGVS:
  • NC_000008.11:g.144515803C>T
  • NG_016430.2:g.7024G>A
  • NG_033083.1:g.2839C>T
  • NM_004260.4:c.1219G>AMANE SELECT
  • NP_004251.3:p.Glu407Lys
  • NP_004251.4:p.Glu407Lys
  • LRG_277t1:c.1219G>A
  • LRG_277:g.7024G>A
  • LRG_277p1:p.Glu407Lys
  • NC_000008.10:g.145741187C>T
  • NG_016430.1:g.7024G>A
  • NM_004260.3:c.1219G>A
Protein change:
E407K
Links:
dbSNP: rs117670586
NCBI 1000 Genomes Browser:
rs117670586
Molecular consequence:
  • NM_004260.4:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003839969Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Uncertain significance
(Jul 13, 2022) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839969.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

DNA sequence analysis of the RECQL4 gene demonstrated a sequence change, c.1219G>A, in exon 6 that results in an amino acid change, p.Glu407Lys. This sequence change 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 0.017% in the overall population (dbSNP rs117670586). The p.Glu407Lys change affects a poorly conserved amino acid residue located in a domain of the RECQL4 protein that is not known to be functional. The p.Glu407Lys substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Glu407Lys change remains unknown at this time.

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

Last Updated: Nov 3, 2024