14-73942542-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_152445.3(FAM161B):c.1099C>T(p.Arg367Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000384 in 1,614,120 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R367Q) has been classified 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM161B | NM_152445.3 | c.1099C>T | p.Arg367Trp | missense_variant | 4/9 | ENST00000286544.5 | |
FAM161B | XM_011536475.3 | c.1099C>T | p.Arg367Trp | missense_variant | 4/10 | ||
FAM161B | XR_007063990.1 | n.1167C>T | non_coding_transcript_exon_variant | 4/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM161B | ENST00000286544.5 | c.1099C>T | p.Arg367Trp | missense_variant | 4/9 | 1 | NM_152445.3 | P1 | |
FAM161B | ENST00000651776.1 | c.1288C>T | p.Arg430Trp | missense_variant | 4/9 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251490Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135920
GnomAD4 exome AF: 0.0000376 AC: 55AN: 1461892Hom.: 0 Cov.: 32 AF XY: 0.0000385 AC XY: 28AN XY: 727246
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 14, 2021 | The c.1288C>T (p.R430W) 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 1288, causing the arginine (R) at amino acid position 430 to be replaced by a tryptophan (W). 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