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NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 30, 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:
RCV002257617.3

Allele description [Variation Report for NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr)]

NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr)

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.1568G>C (p.Ser523Thr)
HGVS:
  • NC_000008.11:g.144514988C>G
  • NG_016430.2:g.7839G>C
  • NG_033083.1:g.2024C>G
  • NM_004260.4:c.1568G>CMANE SELECT
  • NP_004251.3:p.Ser523Thr
  • NP_004251.4:p.Ser523Thr
  • LRG_277t1:c.1568G>C
  • LRG_277:g.7839G>C
  • LRG_277p1:p.Ser523Thr
  • NC_000008.10:g.145740372C>G
  • NG_016430.1:g.7839G>C
  • NM_004260.3:c.1568G>C
Protein change:
S523T
Links:
dbSNP: rs754735053
NCBI 1000 Genomes Browser:
rs754735053
Molecular consequence:
  • NM_004260.4:c.1568G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002527816Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Jul 30, 2021) 		germlinecuration

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Colombo EA, Locatelli A, Cubells Sánchez L, Romeo S, Elcioglu NH, Maystadt I, Esteve Martínez A, Sironi A, Fontana L, Finelli P, Gervasini C, Pecile V, Larizza L.

Int J Mol Sci. 2018 Apr 6;19(4). doi:pii: E1103. 10.3390/ijms19041103.

PubMed [citation]
PMID:
29642415
PMCID:
PMC5979380

Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation.

Salih A, Inoue S, Onwuzurike N.

BMJ Case Rep. 2018 Jan 23;2018. doi:pii: bcr-2017-222384. 10.1136/bcr-2017-222384.

PubMed [citation]
PMID:
29367366
PMCID:
PMC5786930
See all PubMed Citations (5)

Details of each submission

From Sema4, Sema4, SCV002527816.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024