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NM_016284.5(CNOT1):c.6819G>C (p.Gln2273His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 15, 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:
RCV002714346.2

Allele description [Variation Report for NM_016284.5(CNOT1):c.6819G>C (p.Gln2273His)]

NM_016284.5(CNOT1):c.6819G>C (p.Gln2273His)

Genes:
CNOT1:CCR4-NOT transcription complex subunit 1 [Gene - OMIM - HGNC]
SETD6:SET domain containing 6, protein lysine methyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q21
Genomic location:
Preferred name:
NM_016284.5(CNOT1):c.6819G>C (p.Gln2273His)
HGVS:
  • NC_000016.10:g.58523468C>G
  • NM_001160305.4:c.*4439C>GMANE SELECT
  • NM_001265612.2:c.6804G>C
  • NM_016284.5:c.6819G>CMANE SELECT
  • NP_001252541.1:p.Gln2268His
  • NP_057368.3:p.Gln2273His
  • NC_000016.9:g.58557372C>G
  • NM_016284.3:c.6819G>C
  • NR_049763.2:n.7260G>C
Protein change:
Q2268H
Molecular consequence:
  • NM_001160305.4:c.*4439C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001265612.2:c.6804G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016284.5:c.6819G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_049763.2:n.7260G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003730993Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 15, 2021) 		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, SCV003730993.2

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

Description

The c.6819G>C (p.Q2273H) alteration is located in exon 47 (coding exon 46) of the CNOT1 gene. This alteration results from a G to C substitution at nucleotide position 6819, causing the glutamine (Q) at amino acid position 2273 to be replaced by a histidine (H). 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: Sep 1, 2024