rs2271188
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 1P and 20B. PP2BP4_StrongBP6_Very_StrongBS1BS2
The NM_001982.4(ERBB3):c.3380G>A(p.Arg1127His) variant causes a missense change. The variant allele was found at a frequency of 0.000502 in 1,614,040 control chromosomes in the GnomAD database, including 11 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001982.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ERBB3 | NM_001982.4 | c.3380G>A | p.Arg1127His | missense_variant | 27/28 | ENST00000267101.8 | |
ERBB3 | XM_047428500.1 | c.3203G>A | p.Arg1068His | missense_variant | 27/28 | ||
ERBB3 | XM_047428501.1 | c.3203G>A | p.Arg1068His | missense_variant | 27/28 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERBB3 | ENST00000267101.8 | c.3380G>A | p.Arg1127His | missense_variant | 27/28 | 1 | NM_001982.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000671 AC: 102AN: 152038Hom.: 2 Cov.: 30
GnomAD3 exomes AF: 0.000744 AC: 187AN: 251366Hom.: 0 AF XY: 0.000699 AC XY: 95AN XY: 135880
GnomAD4 exome AF: 0.000480 AC: 702AN: 1461884Hom.: 7 Cov.: 33 AF XY: 0.000518 AC XY: 377AN XY: 727242
GnomAD4 genome ? AF: 0.000710 AC: 108AN: 152156Hom.: 4 Cov.: 30 AF XY: 0.000672 AC XY: 50AN XY: 74402
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 20, 2020 | This variant is associated with the following publications: (PMID: 23856252) - |
ERBB3-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jun 19, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at