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NM_006147.4(IRF6):c.1312C>T (p.Gln438Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 16, 2017
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:
RCV000483423.1

Allele description [Variation Report for NM_006147.4(IRF6):c.1312C>T (p.Gln438Ter)]

NM_006147.4(IRF6):c.1312C>T (p.Gln438Ter)

Gene:
IRF6:interferon regulatory factor 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_006147.4(IRF6):c.1312C>T (p.Gln438Ter)
HGVS:
  • NC_000001.11:g.209788512G>A
  • NG_007081.2:g.22623C>T
  • NM_001206696.2:c.1027C>T
  • NM_006147.4:c.1312C>TMANE SELECT
  • NP_001193625.1:p.Gln343Ter
  • NP_006138.1:p.Gln438Ter
  • NC_000001.10:g.209961857G>A
  • NM_006147.3:c.1312C>T
Protein change:
Q343*
Links:
dbSNP: rs1064793155
NCBI 1000 Genomes Browser:
rs1064793155
Molecular consequence:
  • NM_001206696.2:c.1027C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006147.4:c.1312C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000565079GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Feb 16, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000565079.3

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

Description

The Q438X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is predicted to cause loss of normal protein function through protein truncation; however, the extent of this effect is uncertain, as only the final 30 amino acids are lost. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, this variant is likely pathogenic.

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

Last Updated: Apr 23, 2022