NM_198880.3(QRICH1):c.2280_2281del (p.Ile760fs) AND Ververi-Brady syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 19, 2023
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:: RCV003233405.1

Allele description [Variation Report for NM_198880.3(QRICH1):c.2280_2281del (p.Ile760fs)]

NM_198880.3(QRICH1):c.2280_2281del (p.Ile760fs)

Gene:

QRICH1:glutamine rich 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_198880.3(QRICH1):c.2280_2281del (p.Ile760fs)

HGVS:

NC_000003.12:g.49030502_49030503del
NG_012091.1:g.3940_3941del
NM_001320580.2:c.2280_2281del
NM_001320581.2:c.2280_2281del
NM_001320582.2:c.2280_2281del
NM_001320583.2:c.2280_2281del
NM_001320584.1:c.2280_2281del
NM_001320585.1:c.2280_2281del
NM_017730.4:c.2280_2281del
NM_198880.3:c.2280_2281delMANE SELECT
NP_001307509.1:p.Ile760fs
NP_001307510.1:p.Ile760fs
NP_001307511.1:p.Ile760fs
NP_001307512.1:p.Ile760fs
NP_001307513.1:p.Ile760fs
NP_001307514.1:p.Ile760fs
NP_060200.2:p.Ile760fs
NP_942581.1:p.Ile760fs
NC_000003.11:g.49067935_49067936del
NM_017730.3:c.2280_2281del

Protein change:

I760fs

Molecular consequence:

NM_001320580.2:c.2280_2281del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320581.2:c.2280_2281del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320582.2:c.2280_2281del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320583.2:c.2280_2281del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320584.1:c.2280_2281del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320585.1:c.2280_2281del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017730.4:c.2280_2281del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198880.3:c.2280_2281del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Ververi-Brady syndrome
Identifiers:: MONDO: MONDO:0060707; MedGen: C4693824; OMIM: 617982

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003932239	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 19, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003932239

Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 19, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV003932239.1

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

Description

PVS1_Supporting, PS2, PM2

#	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: Jun 17, 2023

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