NM_198880.3(QRICH1):c.2214C>G (p.Ile738Met) AND Ververi-Brady syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 2021
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:: RCV001843861.1

Allele description [Variation Report for NM_198880.3(QRICH1):c.2214C>G (p.Ile738Met)]

NM_198880.3(QRICH1):c.2214C>G (p.Ile738Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_198880.3(QRICH1):c.2214C>G (p.Ile738Met)

HGVS:

NC_000003.12:g.49030569G>C
NG_012091.1:g.3874C>G
NM_001320580.2:c.2214C>G
NM_001320581.2:c.2214C>G
NM_001320582.2:c.2214C>G
NM_001320583.2:c.2214C>G
NM_001320584.1:c.2214C>G
NM_001320585.1:c.2214C>G
NM_017730.4:c.2214C>G
NM_198880.3:c.2214C>GMANE SELECT
NP_001307509.1:p.Ile738Met
NP_001307510.1:p.Ile738Met
NP_001307511.1:p.Ile738Met
NP_001307512.1:p.Ile738Met
NP_001307513.1:p.Ile738Met
NP_001307514.1:p.Ile738Met
NP_060200.2:p.Ile738Met
NP_942581.1:p.Ile738Met
NC_000003.11:g.49068002G>C
NM_017730.3:c.2214C>G

Protein change:

I738M

Links:

dbSNP: rs1229242051

NCBI 1000 Genomes Browser:

rs1229242051

Molecular consequence:

NM_001320580.2:c.2214C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001320581.2:c.2214C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001320582.2:c.2214C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001320583.2:c.2214C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001320584.1:c.2214C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001320585.1:c.2214C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_017730.4:c.2214C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198880.3:c.2214C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002103048	Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 9, 2021)	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

SCV002103048

Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 9, 2021)

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 Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn, SCV002103048.1

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

Description

PP2

#	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: Dec 24, 2023

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