NM_024782.3(NHEJ1):c.570_573dup (p.Gln192fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 30, 2015
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:: RCV000485453.1

Allele description [Variation Report for NM_024782.3(NHEJ1):c.570_573dup (p.Gln192fs)]

NM_024782.3(NHEJ1):c.570_573dup (p.Gln192fs)

Gene:

NHEJ1:non-homologous end joining factor 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_024782.3(NHEJ1):c.570_573dup (p.Gln192fs)

HGVS:

NC_000002.12:g.219146695_219146698dup
NG_007880.1:g.19168_19171dup
NM_001377498.1:c.570_573dup
NM_001377499.1:c.570_573dup
NM_024782.3:c.570_573dupMANE SELECT
NP_001364427.1:p.Gln192fs
NP_001364428.1:p.Gln192fs
NP_079058.1:p.Gln192fs
LRG_90:g.19168_19171dup
NC_000002.11:g.220011417_220011420dup
NM_024782.2:c.570_573dupGGAA
NR_165304.1:n.666_669dup

Protein change:

Q192fs

Links:

dbSNP: rs1553548393

NCBI 1000 Genomes Browser:

rs1553548393

Molecular consequence:

NM_001377498.1:c.570_573dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377499.1:c.570_573dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024782.3:c.570_573dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_165304.1:n.666_669dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000565984	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 30, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000565984

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 30, 2015)

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, SCV000565984.4

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

Description

The c.570_573dupGGAA variant in the NHEJ1 gene is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The c.570_573dupGGAAvariant was not observed in approximately 6,500 individuals of European and African American ancestryin the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret the c.570_573dupGGAA variant as pathogenic.

#	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: Apr 23, 2022

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