8-138151675-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015912.4(FAM135B):c.2800G>A(p.Val934Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000041 in 1,461,886 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
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.2800G>A | p.Val934Met | missense_variant | 13/20 | ENST00000395297.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM135B | ENST00000395297.6 | c.2800G>A | p.Val934Met | missense_variant | 13/20 | 5 | NM_015912.4 | P1 | |
FAM135B | ENST00000467365.2 | n.730G>A | non_coding_transcript_exon_variant | 1/4 | 1 | ||||
FAM135B | ENST00000482951.6 | c.*2746G>A | 3_prime_UTR_variant, NMD_transcript_variant | 14/21 | 1 | ||||
FAM135B | ENST00000276737.10 | c.2800G>A | p.Val934Met | missense_variant, NMD_transcript_variant | 13/20 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251262Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135790
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461886Hom.: 0 Cov.: 29 AF XY: 0.00000550 AC XY: 4AN XY: 727242
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at