rs397514262
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PM5PP3
The ENST00000342788.9(ERBB4):c.2780G>T(p.Arg927Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R927Q) has been classified as Pathogenic.
Frequency
Consequence
ENST00000342788.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ERBB4 | NM_005235.3 | c.2780G>T | p.Arg927Leu | missense_variant | 23/28 | ENST00000342788.9 | NP_005226.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ERBB4 | ENST00000342788.9 | c.2780G>T | p.Arg927Leu | missense_variant | 23/28 | 1 | NM_005235.3 | ENSP00000342235 | P4 | |
ERBB4 | ENST00000436443.5 | c.2780G>T | p.Arg927Leu | missense_variant | 23/27 | 1 | ENSP00000403204 | A1 | ||
ERBB4 | ENST00000260943.11 | c.2750G>T | p.Arg917Leu | missense_variant | 23/27 | 5 | ENSP00000260943 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.