NM_198880.3(QRICH1):c.1655del (p.Phe552fs) AND Ververi-Brady syndrome

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Dec 22, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001800233.3

Allele description [Variation Report for NM_198880.3(QRICH1):c.1655del (p.Phe552fs)]

NM_198880.3(QRICH1):c.1655del (p.Phe552fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_198880.3(QRICH1):c.1655del (p.Phe552fs)

HGVS:

NC_000003.12:g.49046444del
NM_001320580.2:c.1655del
NM_001320581.2:c.1655del
NM_001320582.2:c.1655del
NM_001320583.2:c.1655del
NM_001320584.1:c.1655del
NM_001320585.1:c.1655del
NM_017730.4:c.1655del
NM_198880.3:c.1655delMANE SELECT
NP_001307509.1:p.Phe552fs
NP_001307510.1:p.Phe552fs
NP_001307511.1:p.Phe552fs
NP_001307512.1:p.Phe552fs
NP_001307513.1:p.Phe552fs
NP_001307514.1:p.Phe552fs
NP_060200.2:p.Phe552fs
NP_942581.1:p.Phe552fs
NC_000003.11:g.49083877del
NM_017730.3:c.1655del

Protein change:

F552fs

Links:

dbSNP: rs2106862871

NCBI 1000 Genomes Browser:

rs2106862871

Molecular consequence:

NM_001320580.2:c.1655del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320581.2:c.1655del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320582.2:c.1655del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320583.2:c.1655del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320584.1:c.1655del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320585.1:c.1655del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017730.4:c.1655del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198880.3:c.1655del - 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
SCV002044394	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 21, 2021)	germline	research	PubMed (2) [See all records that cite these PMIDs] 34859529, 25741868
SCV005016482	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 22, 2023)	maternal	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

SCV002044394

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 21, 2021)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

SCV005016482

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 22, 2023)

maternal

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	research
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, et al.

Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11.

PubMed [citation]

PMID:: 34859529

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 Institute of Human Genetics, University of Leipzig Medical Center, SCV002044394.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	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

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV005016482.1

#	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	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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