NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 20, 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:: RCV002570672.2

Allele description [Variation Report for NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs)]

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_001320580.2: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:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003545222	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Sep 20, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003545222

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Sep 20, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003545222.2

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

Description

The c.1149_1150delCT (p.F384Sfs*70) alteration, located in exon 4 (coding exon 2) of the QRICH1 gene, consists of a deletion of 2 nucleotides from position 1149 to 1150, causing a translational frameshift with a predicted alternate stop codon after 70 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

#	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: Oct 20, 2024

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