NM_024496.4(IRF2BPL):c.462CGC[10] (p.Ala164_Val165insAla) AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 1, 2024
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:: RCV003393514.10

Allele description [Variation Report for NM_024496.4(IRF2BPL):c.462CGC[10] (p.Ala164_Val165insAla)]

NM_024496.4(IRF2BPL):c.462CGC[10] (p.Ala164_Val165insAla)

Gene:

IRF2BPL:interferon regulatory factor 2 binding protein like [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_024496.4(IRF2BPL):c.462CGC[10] (p.Ala164_Val165insAla)

HGVS:

NC_000014.9:g.77027307GGC[10]
NM_024496.3:c.486_488dupCGC
NM_024496.4:c.462CGC[10]MANE SELECT
NP_078772.1:p.Ala164_Val165insAla
NC_000014.8:g.77493650GGC[10]

Molecular consequence:

NM_024496.4:c.462CGC[10] - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Chain D, POLYUBIQUITIN-C
Chain D, POLYUBIQUITIN-C
gi|806394283|pdb|4V3L|D

Protein
Human MHC class I antigen heavy chain HLA-B (HLA-B-0701) mRNA, complete cds
Human MHC class I antigen heavy chain HLA-B (HLA-B-0701) mRNA, complete cds
gi|695255|gb|U21052.1|HSU21052

Nucleotide
LOC132442150 [Mus musculus]
LOC132442150 [Mus musculus]
Gene ID:132442150

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004130162	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Jul 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004130162

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Jul 1, 2024)

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	10	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004130162.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	10	not provided	not provided	clinical testing	not provided

Description

IRF2BPL: BS1, BS2

#	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		10	not provided	not provided	not provided

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine