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NM_006147.3(IRF6):c.1268T>G (p.Ile423Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Apr 26, 2017
Accession:
VCV000464462.1
Variation ID:
464462
Description:
single nucleotide variant
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NM_006147.3(IRF6):c.1268T>G (p.Ile423Ser)

Allele ID
447481
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.2
Genomic location
1: 209788556 (GRCh38) GRCh38 UCSC
1: 209961901 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.209788556A>C
NC_000001.10:g.209961901A>C
NM_006147.3:c.1268T>G NP_006138.1:p.Ile423Ser missense
NG_007081.2:g.22579T>G
Protein change
I423S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1553247592
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 26, 2017 RCV000557916.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IRF6 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
131 147

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 26, 2017)
criteria provided, single submitter
Method: clinical testing
Orofacial cleft 6, susceptibility to
Van der Woude syndrome
Popliteal pterygium syndrome
Allele origin: germline
Invitae
Accession: SCV000638965.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces isoleucine with serine at codon 423 of the IRF6 protein (p.Ile423Ser). The isoleucine residue is highly conserved and there is a ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 17, 2019