NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 10, 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:: RCV002257707.3

Allele description [Variation Report for NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln)]

NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln)

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.1064G>A (p.Arg355Gln)

HGVS:

NC_000008.11:g.144516055C>T
NG_016430.2:g.6772G>A
NG_033083.1:g.3091C>T
NM_004260.4:c.1064G>AMANE SELECT
NP_004251.3:p.Arg355Gln
NP_004251.4:p.Arg355Gln
LRG_277t1:c.1064G>A
LRG_277:g.6772G>A
LRG_277p1:p.Arg355Gln
NC_000008.10:g.145741439C>T
NG_016430.1:g.6772G>A
NM_004260.3:c.1064G>A

Protein change:

R355Q

Links:

dbSNP: rs374743591

NCBI 1000 Genomes Browser:

rs374743591

Molecular consequence:

NM_004260.4:c.1064G>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002527785	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Uncertain significance (Dec 10, 2021)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 15221963, 26491355 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002527785

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Uncertain significance
(Dec 10, 2021)

germline

curation

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Mutation analysis of the RECQL4 gene in sporadic osteosarcomas.

Nishijo K, Nakayama T, Aoyama T, Okamoto T, Ishibe T, Yasura K, Shima Y, Shibata KR, Tsuboyama T, Nakamura T, Toguchida J.

Int J Cancer. 2004 Sep 1;111(3):367-72.

PubMed [citation]

PMID:: 15221963

Molecular diagnostics of a single drug-resistant multiple myeloma case using targeted next-generation sequencing.

Ikeda H, Ishiguro K, Igarashi T, Aoki Y, Hayashi T, Ishida T, Sasaki Y, Tokino T, Shinomura Y.

Onco Targets Ther. 2015;8:2805-15. doi: 10.2147/OTT.S86515.

PubMed [citation]

PMID:: 26491355
PMCID:: PMC4599646

Details of each submission

From Sema4, Sema4, SCV002527785.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 13, 2025

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