14-73942481-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152445.3(FAM161B):c.1160C>T(p.Ala387Val) variant causes a missense 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. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152445.3 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 |
---|---|---|---|---|---|---|---|
FAM161B | NM_152445.3 | c.1160C>T | p.Ala387Val | missense_variant | 4/9 | ENST00000286544.5 | |
FAM161B | XM_011536475.3 | c.1160C>T | p.Ala387Val | missense_variant | 4/10 | ||
FAM161B | XR_007063990.1 | n.1228C>T | non_coding_transcript_exon_variant | 4/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM161B | ENST00000286544.5 | c.1160C>T | p.Ala387Val | missense_variant | 4/9 | 1 | NM_152445.3 | P1 | |
FAM161B | ENST00000651776.1 | c.1349C>T | p.Ala450Val | missense_variant | 4/9 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 23, 2024 | The c.1349C>T (p.A450V) alteration is located in exon 4 (coding exon 4) of the FAM161B gene. This alteration results from a C to T substitution at nucleotide position 1349, causing the alanine (A) at amino acid position 450 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.