NM_198880.3(QRICH1):c.1147del (p.Leu383fs) AND Ververi-Brady syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 14, 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:: RCV004555002.1

Allele description [Variation Report for NM_198880.3(QRICH1):c.1147del (p.Leu383fs)]

NM_198880.3(QRICH1):c.1147del (p.Leu383fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_198880.3(QRICH1):c.1147del (p.Leu383fs)

HGVS:

NC_000003.12:g.49057053del
NM_001320580.2:c.1147del
NM_001320581.2:c.1147del
NM_001320582.2:c.1147del
NM_001320583.2:c.1147del
NM_001320584.1:c.1147del
NM_001320585.1:c.1147del
NM_017730.4:c.1147del
NM_198880.3:c.1147delMANE SELECT
NP_001307509.1:p.Leu383fs
NP_001307510.1:p.Leu383fs
NP_001307511.1:p.Leu383fs
NP_001307512.1:p.Leu383fs
NP_001307513.1:p.Leu383fs
NP_001307514.1:p.Leu383fs
NP_060200.2:p.Leu383fs
NP_942581.1:p.Leu383fs
NC_000003.11:g.49094486del
NM_017730.3:c.1147del

Protein change:

L383fs

Molecular consequence:

NM_001320580.2:c.1147del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320581.2:c.1147del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320582.2:c.1147del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320583.2:c.1147del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320584.1:c.1147del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320585.1:c.1147del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017730.4:c.1147del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198880.3:c.1147del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

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Homo sapiens high mobility group nucleosome binding domain 1 (HMGN1), mRNA
Homo sapiens high mobility group nucleosome binding domain 1 (HMGN1), mRNA
gi|1519313719|ref|NM_004965.7|

Nucleotide
cytohesin-interacting protein [Homo sapiens]
cytohesin-interacting protein [Homo sapiens]
gi|47933392|ref|NP_004279.3|

Protein
CCL4L1 C-C motif chemokine ligand 4 like 1 [Homo sapiens]
CCL4L1 C-C motif chemokine ligand 4 like 1 [Homo sapiens]
Gene ID:388372

Gene
Taxonomy Links for Protein (Select 1085111988) (1)
Taxonomy
OMIM(Genes) for MedGen (Select 1648284) (1)
OMIM

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005043846	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 14, 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

SCV005043846

Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 14, 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	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, SCV005043846.1

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

Description

PVS1, 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: May 26, 2024

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