NM_001982.4:c.3348G>T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_001982.4(ERBB3):c.3348G>T(p.Arg1116Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R1116R) has been classified as Benign.
Frequency
Consequence
NM_001982.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ERBB3 | NM_001982.4 | c.3348G>T | p.Arg1116Ser | missense_variant | Exon 27 of 28 | ENST00000267101.8 | NP_001973.2 | |
ERBB3 | XM_047428500.1 | c.3171G>T | p.Arg1057Ser | missense_variant | Exon 27 of 28 | XP_047284456.1 | ||
ERBB3 | XM_047428501.1 | c.3171G>T | p.Arg1057Ser | missense_variant | Exon 27 of 28 | XP_047284457.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 57
GnomAD4 genome Cov.: 30
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.