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NM_004260.4(RECQL4):c.20T>G (p.Val7Gly) AND Rothmund-Thomson syndrome type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 10, 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:
RCV002291629.1

Allele description [Variation Report for NM_004260.4(RECQL4):c.20T>G (p.Val7Gly)]

NM_004260.4(RECQL4):c.20T>G (p.Val7Gly)

Genes:
LOC130001411:ATAC-STARR-seq lymphoblastoid silent region 19699 [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.20T>G (p.Val7Gly)
HGVS:
  • NC_000008.11:g.144517765A>C
  • NG_016430.2:g.5062T>G
  • NG_033083.1:g.4801A>C
  • NM_004260.4:c.20T>GMANE SELECT
  • NP_004251.3:p.Val7Gly
  • NP_004251.4:p.Val7Gly
  • LRG_277t1:c.20T>G
  • LRG_277:g.5062T>G
  • LRG_277p1:p.Val7Gly
  • NC_000008.10:g.145743149A>C
  • NG_016430.1:g.5062T>G
  • NM_004260.3:c.20T>G
Protein change:
V7G
Links:
dbSNP: rs781721739
NCBI 1000 Genomes Browser:
rs781721739
Molecular consequence:
  • NM_004260.4:c.20T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rothmund-Thomson syndrome type 2 (RTS2)
Identifiers:
MONDO: MONDO:0016369; MedGen: C5203410; OMIM: 268400

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002584542St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(Aug 10, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV002584542.1

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

Description

The RECQL4 c.20T>G (p.Val7Gly) missense change has a maximum subpopulation frequency of 0.015% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In silico tools are inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in individuals with RECQL4-associated conditions. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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

Last Updated: May 16, 2025