chr8-138151578-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015912.4(FAM135B):āc.2897C>Gā(p.Thr966Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,866 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_015912.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM135B | NM_015912.4 | c.2897C>G | p.Thr966Arg | missense_variant | 13/20 | ENST00000395297.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM135B | ENST00000395297.6 | c.2897C>G | p.Thr966Arg | missense_variant | 13/20 | 5 | NM_015912.4 | P1 | |
FAM135B | ENST00000467365.2 | n.827C>G | non_coding_transcript_exon_variant | 1/4 | 1 | ||||
FAM135B | ENST00000482951.6 | c.*2843C>G | 3_prime_UTR_variant, NMD_transcript_variant | 14/21 | 1 | ||||
FAM135B | ENST00000276737.10 | c.2897C>G | p.Thr966Arg | missense_variant, NMD_transcript_variant | 13/20 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461866Hom.: 0 Cov.: 29 AF XY: 0.00000275 AC XY: 2AN XY: 727234
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at