rs185670819
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 1P and 20B. PP2BP4_StrongBP6_Very_StrongBS1BS2
The NM_004448.4(ERBB2):c.428G>A(p.Arg143Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000348 in 1,613,836 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004448.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000322 AC: 49AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000498 AC: 125AN: 250872Hom.: 0 AF XY: 0.000464 AC XY: 63AN XY: 135690
GnomAD4 exome AF: 0.000350 AC: 512AN: 1461570Hom.: 3 Cov.: 30 AF XY: 0.000338 AC XY: 246AN XY: 727120
GnomAD4 genome AF: 0.000322 AC: 49AN: 152266Hom.: 0 Cov.: 32 AF XY: 0.000430 AC XY: 32AN XY: 74458
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at