chr12-56085304-G-T
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001005915.1(ERBB3):c.544G>T(p.Ala182Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000028 in 1,427,856 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001005915.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ERBB3 | NM_001982.4 | c.421+123G>T | intron_variant | Intron 3 of 27 | ENST00000267101.8 | NP_001973.2 | ||
ERBB3 | NM_001005915.1 | c.544G>T | p.Ala182Ser | missense_variant | Exon 3 of 3 | NP_001005915.1 | ||
ERBB3 | XM_047428500.1 | c.244+123G>T | intron_variant | Intron 3 of 27 | XP_047284456.1 | |||
ERBB3 | XM_047428501.1 | c.244+123G>T | intron_variant | Intron 3 of 27 | XP_047284457.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000280 AC: 4AN: 1427856Hom.: 0 Cov.: 32 AF XY: 0.00000283 AC XY: 2AN XY: 705666 show subpopulations
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not provided Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at