NM_003489.4(NRIP1):c.478_516del (p.Gln160_Glu172del) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 3, 2022
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:: RCV002736927.2

Allele description [Variation Report for NM_003489.4(NRIP1):c.478_516del (p.Gln160_Glu172del)]

NM_003489.4(NRIP1):c.478_516del (p.Gln160_Glu172del)

Gene:

NRIP1:nuclear receptor interacting protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

21q11.2

Genomic location:

Preferred name:

NM_003489.4(NRIP1):c.478_516del (p.Gln160_Glu172del)

HGVS:

NC_000021.9:g.14967681_14967719del
NG_050643.1:g.103189_103227del
NM_003489.4:c.478_516delMANE SELECT
NP_003480.2:p.Gln160_Glu172del
NC_000021.8:g.16340002_16340040del
NM_003489.3:c.478_516del39

Molecular consequence:

NM_003489.4:c.478_516del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003560347	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 3, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003560347

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 3, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003560347.2

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

Description

The c.478_516del39 (p.Q160_E172del) alteration, located in exon 4 (coding exon 1) of the NRIP1 gene, results from an in-frame deletion of 39 nucleotides at positions c.478 to c.516. This results in the deletion of 13 amino acids between codons 160 and 172. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is not well conserved in available vertebrate species. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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