8-7841190-C-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_ModerateBP6_Moderate
The NM_080389.3(DEFB104A):c.215C>A(p.Pro72His) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_080389.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 124160Hom.: 0 Cov.: 16 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 8.13e-7 AC: 1AN: 1230016Hom.: 0 Cov.: 19 AF XY: 0.00 AC XY: 0AN XY: 613910
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000805 AC: 1AN: 124160Hom.: 0 Cov.: 16 AF XY: 0.00 AC XY: 0AN XY: 59186
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at