NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs) AND Ververi-Brady syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 26, 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:: RCV001548773.2

Allele description

NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs)

HGVS:

NC_000003.12:g.49057050AG[3]
NM_001320580.2:c.1149_1150del
NM_001320581.2:c.1149_1150del
NM_001320582.2:c.1149_1150del
NM_001320583.2:c.1149_1150del
NM_001320584.1:c.1149_1150del
NM_001320585.1:c.1149_1150del
NM_017730.2:c.1149_1150delCT
NM_017730.4:c.1149_1150del
NM_198880.3:c.1149_1150delMANE SELECT
NP_001307509.1:p.Phe384fs
NP_001307510.1:p.Phe384fs
NP_001307511.1:p.Phe384fs
NP_001307512.1:p.Phe384fs
NP_001307513.1:p.Phe384fs
NP_001307514.1:p.Phe384fs
NP_060200.2:p.Phe384fs
NP_942581.1:p.Phe384fs
NC_000003.11:g.49094483AG[3]
NC_000003.11:g.49094483_49094484del
NM_001320580.1:c.1149_1150del
NM_017730.3:c.1149_1150del
NM_017730.3:c.1149_1150delCT

Protein change:

F384fs

Links:

dbSNP: rs1376687924

NCBI 1000 Genomes Browser:

rs1376687924

Molecular consequence:

NM_001320580.2:c.1149_1150del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320581.2:c.1149_1150del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320582.2:c.1149_1150del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320583.2:c.1149_1150del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320584.1:c.1149_1150del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320585.1:c.1149_1150del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017730.4:c.1149_1150del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198880.3:c.1149_1150del - 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
SCV001768738	Gene Discovery Core-Manton Center, Boston Children's Hospital	no assertion criteria provided	Pathogenic (Feb 14, 2020)	de novo	research
SCV004806707	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 26, 2024)	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

SCV001768738

Gene Discovery Core-Manton Center, Boston Children's Hospital

no assertion criteria provided

Pathogenic
(Feb 14, 2020)

de novo

research

SCV004806707

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 26, 2024)

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	unknown	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 Gene Discovery Core-Manton Center, Boston Children's Hospital, SCV001768738.1

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

Description

This variant is interpreted as Pathogenic for Ververi-Brady syndrome; Autosomal Dominant. PVS1- Null variant (nonsense, frameshift, canonical splice sites, initiation codon, single or multiexon deletion) in a gene where LOF is a known mechanism of disease. PS2- De novo (both maternity and paternity confirmed) in a patient with the disease and no family history. PM2- Absent from controls (gnomad). PP3- Multiple lines of computational evidence support a deleterious effect on the gene or gene product.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004806707.1

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

#	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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