U.S. flag

An official website of the United States government

NM_198880.3(QRICH1):c.400C>T (p.Gln134Ter) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 25, 2023
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:
RCV003274795.2

Allele description [Variation Report for NM_198880.3(QRICH1):c.400C>T (p.Gln134Ter)]

NM_198880.3(QRICH1):c.400C>T (p.Gln134Ter)

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.400C>T (p.Gln134Ter)
HGVS:
  • NC_000003.12:g.49057800G>A
  • NM_001320580.2:c.400C>T
  • NM_001320581.2:c.400C>T
  • NM_001320582.2:c.400C>T
  • NM_001320583.2:c.400C>T
  • NM_001320584.1:c.400C>T
  • NM_001320585.1:c.400C>T
  • NM_017730.4:c.400C>T
  • NM_198880.3:c.400C>TMANE SELECT
  • NP_001307509.1:p.Gln134Ter
  • NP_001307510.1:p.Gln134Ter
  • NP_001307511.1:p.Gln134Ter
  • NP_001307512.1:p.Gln134Ter
  • NP_001307513.1:p.Gln134Ter
  • NP_001307514.1:p.Gln134Ter
  • NP_060200.2:p.Gln134Ter
  • NP_942581.1:p.Gln134Ter
  • NC_000003.11:g.49095233G>A
  • NM_017730.2:c.400C>T
Protein change:
Q134*
Molecular consequence:
  • NM_001320580.2:c.400C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320581.2:c.400C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320582.2:c.400C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320583.2:c.400C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320584.1:c.400C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320585.1:c.400C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017730.4:c.400C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198880.3:c.400C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003961175Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Apr 25, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003961175.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.400C>T (p.Q134*) alteration, located in exon 4 (coding exon 2) of the QRICH1 gene, consists of a C to T substitution at nucleotide position 400. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 134. 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024