12-56085154-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP2BS2
The NM_001982.4(ERBB3):c.394C>T(p.Arg132Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000527 in 1,614,108 control chromosomes in the GnomAD database, including 2 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001982.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ERBB3 | NM_001982.4 | c.394C>T | p.Arg132Cys | missense_variant | Exon 3 of 28 | ENST00000267101.8 | NP_001973.2 | |
ERBB3 | NM_001005915.1 | c.394C>T | p.Arg132Cys | missense_variant | Exon 3 of 3 | NP_001005915.1 | ||
ERBB3 | XM_047428500.1 | c.217C>T | p.Arg73Cys | missense_variant | Exon 3 of 28 | XP_047284456.1 | ||
ERBB3 | XM_047428501.1 | c.217C>T | p.Arg73Cys | missense_variant | Exon 3 of 28 | XP_047284457.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152120Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000994 AC: 25AN: 251490Hom.: 1 AF XY: 0.000125 AC XY: 17AN XY: 135920
GnomAD4 exome AF: 0.0000506 AC: 74AN: 1461870Hom.: 2 Cov.: 32 AF XY: 0.0000784 AC XY: 57AN XY: 727236
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152238Hom.: 0 Cov.: 31 AF XY: 0.0000806 AC XY: 6AN XY: 74416
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.394C>T (p.R132C) alteration is located in exon 3 (coding exon 3) of the ERBB3 gene. This alteration results from a C to T substitution at nucleotide position 394, causing the arginine (R) at amino acid position 132 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at