rs55671017
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PP3PP5BS2
The NM_005235.3(ERBB4):c.1177C>T(p.Arg393Trp) variant causes a missense change. The variant allele was found at a frequency of 0.00000411 in 1,459,808 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R393Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_005235.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ERBB4 | NM_005235.3 | c.1177C>T | p.Arg393Trp | missense_variant | 10/28 | ENST00000342788.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERBB4 | ENST00000342788.9 | c.1177C>T | p.Arg393Trp | missense_variant | 10/28 | 1 | NM_005235.3 | P4 | |
ERBB4 | ENST00000436443.5 | c.1177C>T | p.Arg393Trp | missense_variant | 10/27 | 1 | A1 | ||
ERBB4 | ENST00000484594.5 | n.1229C>T | non_coding_transcript_exon_variant | 10/20 | 1 | ||||
ERBB4 | ENST00000260943.11 | c.1177C>T | p.Arg393Trp | missense_variant | 10/27 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251486Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135916
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1459808Hom.: 0 Cov.: 29 AF XY: 0.00000413 AC XY: 3AN XY: 726430
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Melanoma Pathogenic:1
Likely pathogenic, no assertion criteria provided | literature only | Database of Curated Mutations (DoCM) | Dec 26, 2014 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at