NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 27, 2017
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:: RCV000478302.1

Allele description

NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs)

Gene:

RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs)

HGVS:

NC_000008.11:g.144514983_144514988delinsGGGGG
NG_016430.1:g.7839_7844delinsCCCCC
NG_016430.2:g.7839_7844delinsCCCCC
NG_033083.1:g.2019_2024delinsGGGGG
NM_004260.4:c.1568_1573delinsCCCCCMANE SELECT
NP_004251.4:p.Ser523fs
LRG_277t1:c.1568_1573delinsCCCCC
LRG_277:g.7839_7844delinsCCCCC
LRG_277p1:p.Ser523fs
NC_000008.10:g.145740367_145740372delinsGGGGG
NM_004260.3:c.1568_1573delGCCCCTinsCCCCC

Protein change:

S523fs

Links:

dbSNP: rs1060501383

NCBI 1000 Genomes Browser:

rs1060501383

Molecular consequence:

NM_004260.4:c.1568_1573delinsCCCCC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000565484	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jun 27, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000565484

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jun 27, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000565484.3

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

Description

The c.1568_1573delGCCCCTinsCCCCC variant in the RECQL4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1568_1573delGCCCCTinsCCCCC variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1568_1573delGCCCCTinsCCCCC as a pathogenic variant.

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

Last Updated: Oct 25, 2021

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