NM_004260.4(RECQL4):c.3389_3393delCCAGA (p.Arg1131fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 20, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001783679.3

Allele description [Variation Report for NM_004260.4(RECQL4):c.3389_3393delCCAGA (p.Arg1131fs)]

NM_004260.4(RECQL4):c.3389_3393delCCAGA (p.Arg1131fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_004260.4(RECQL4):c.3389_3393delCCAGA (p.Arg1131fs)

HGVS:

NC_000008.11:g.144511911_144511915del
NG_016430.2:g.10912_10916del
NM_004260.4:c.3389_3393delCCAGAMANE SELECT
NP_004251.4:p.Arg1131fs
LRG_277t1:c.3389_3393del
LRG_277:g.10912_10916del
LRG_277p1:p.Arg1131fs
NC_000008.10:g.145737294_145737298del
NG_016430.1:g.10912_10916del
NM_004260.3:c.3389_3393dup

Protein change:

R1131fs

Links:

dbSNP: rs2130653843

NCBI 1000 Genomes Browser:

rs2130653843

Molecular consequence:

NM_004260.4:c.3389_3393delCCAGA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002019045	Revvity Omics, Revvity	no assertion criteria provided	Likely pathogenic (Nov 20, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002019045

Revvity Omics, Revvity

no assertion criteria provided

Likely pathogenic
(Nov 20, 2020)

germline

clinical testing

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	clinical testing

Details of each submission

From Revvity Omics, Revvity, SCV002019045.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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: Mar 16, 2024

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