rs7709828
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_152548.3(FAM81B):c.*156C>A variant causes a 3 prime UTR 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 32)
Consequence
FAM81B
NM_152548.3 3_prime_UTR
NM_152548.3 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.379
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| FAM81B | NM_152548.3 | c.*156C>A | 3_prime_UTR_variant | Exon 10 of 10 | ENST00000283357.10 | NP_689761.2 | ||
| FAM81B | XM_011543209.2 | c.*156C>A | 3_prime_UTR_variant | Exon 8 of 8 | XP_011541511.1 | |||
| FAM81B | XM_011543210.3 | c.*156C>A | 3_prime_UTR_variant | Exon 7 of 7 | XP_011541512.1 | |||
| FAM81B | XM_047416823.1 | c.*156C>A | 3_prime_UTR_variant | Exon 7 of 7 | XP_047272779.1 |
Ensembl
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
32
GnomAD4 exome Cov.: 14
GnomAD4 exome
Cov.:
14
GnomAD4 genome
GnomAD4 genome
Cov.:
32
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at