NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:: Benign (1 submission)
Last evaluated:: Oct 9, 2020
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:: RCV002255303.1

Allele description [Variation Report for NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg)]

NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg)

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.161A>G (p.Gln54Arg)

HGVS:

NC_000008.11:g.144517466T>C
NG_016430.2:g.5361A>G
NG_033083.1:g.4502T>C
NM_004260.4:c.161A>GMANE SELECT
NP_004251.3:p.Gln54Arg
NP_004251.4:p.Gln54Arg
LRG_277t1:c.161A>G
LRG_277:g.5361A>G
LRG_277p1:p.Gln54Arg
NC_000008.10:g.145742850T>C
NG_016430.1:g.5361A>G
NM_004260.3:c.161A>G

Protein change:

Q54R

Links:

dbSNP: rs35198096

NCBI 1000 Genomes Browser:

rs35198096

Molecular consequence:

NM_004260.4:c.161A>G - 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
SCV002527819	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Benign (Oct 9, 2020)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002527819

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Benign
(Oct 9, 2020)

germline

curation

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

Details of each submission

From Sema4, Sema4, SCV002527819.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

#	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: Sep 29, 2024

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