9-127826640-CG-CGGG
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PVS1PM2PP5_Moderate
The NM_001114753.3(ENG):c.391_392dupCC(p.Gly132ArgfsTer32) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001114753.3 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ENG | NM_001114753.3 | c.391_392dupCC | p.Gly132ArgfsTer32 | frameshift_variant | Exon 4 of 15 | ENST00000373203.9 | NP_001108225.1 | |
ENG | NM_000118.4 | c.391_392dupCC | p.Gly132ArgfsTer32 | frameshift_variant | Exon 4 of 14 | NP_000109.1 | ||
ENG | NM_001406715.1 | c.391_392dupCC | p.Gly132ArgfsTer32 | frameshift_variant | Exon 4 of 8 | NP_001393644.1 | ||
ENG | NM_001278138.2 | c.-156_-155dupCC | 5_prime_UTR_variant | Exon 4 of 15 | NP_001265067.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENG | ENST00000373203.9 | c.391_392dupCC | p.Gly132ArgfsTer32 | frameshift_variant | Exon 4 of 15 | 1 | NM_001114753.3 | ENSP00000362299.4 | ||
ENG | ENST00000344849.4 | c.391_392dupCC | p.Gly132ArgfsTer32 | frameshift_variant | Exon 4 of 14 | 1 | ENSP00000341917.3 | |||
ENG | ENST00000480266.6 | c.-156_-155dupCC | 5_prime_UTR_variant | Exon 4 of 15 | 2 | ENSP00000479015.1 | ||||
ENG | ENST00000462196.1 | n.291_292dupCC | non_coding_transcript_exon_variant | Exon 3 of 4 | 3 | ENSP00000519251.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Cardiovascular phenotype Pathogenic:1
The c.391_392dupCC pathogenic mutation, located in coding exon 4 of the ENG gene, results from a duplication of CC at nucleotide positions 391 and 392, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.