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NM_198880.3(QRICH1):c.1214C>T (p.Thr405Met) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 26, 2022
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:
RCV002951232.2

Allele description [Variation Report for NM_198880.3(QRICH1):c.1214C>T (p.Thr405Met)]

NM_198880.3(QRICH1):c.1214C>T (p.Thr405Met)

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.1214C>T (p.Thr405Met)
HGVS:
  • NC_000003.12:g.49056986G>A
  • NM_001320580.2:c.1214C>T
  • NM_001320581.2:c.1214C>T
  • NM_001320582.2:c.1214C>T
  • NM_001320583.2:c.1214C>T
  • NM_001320584.1:c.1214C>T
  • NM_001320585.1:c.1214C>T
  • NM_017730.4:c.1214C>T
  • NM_198880.3:c.1214C>TMANE SELECT
  • NP_001307509.1:p.Thr405Met
  • NP_001307510.1:p.Thr405Met
  • NP_001307511.1:p.Thr405Met
  • NP_001307512.1:p.Thr405Met
  • NP_001307513.1:p.Thr405Met
  • NP_001307514.1:p.Thr405Met
  • NP_060200.2:p.Thr405Met
  • NP_942581.1:p.Thr405Met
  • NC_000003.11:g.49094419G>A
  • NM_017730.2:c.1214C>T
Protein change:
T405M
Molecular consequence:
  • NM_001320580.2:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320581.2:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320582.2:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320583.2:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320584.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320585.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017730.4:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198880.3:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003682131Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 26, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003682131.2

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

Description

The c.1214C>T (p.T405M) alteration is located in exon 4 (coding exon 2) of the QRICH1 gene. This alteration results from a C to T substitution at nucleotide position 1214, causing the threonine (T) at amino acid position 405 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024