chr11-47588213-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001164379.3(FAM180B):c.331C>T(p.Pro111Ser) 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. 12/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001164379.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAM180B | NM_001164379.3 | c.331C>T | p.Pro111Ser | missense_variant | Exon 3 of 3 | ENST00000538490.3 | NP_001157851.1 | |
FAM180B | NM_001367966.1 | c.295C>T | p.Pro99Ser | missense_variant | Exon 2 of 2 | NP_001354895.1 | ||
FAM180B | NM_001367967.1 | c.181C>T | p.Pro61Ser | missense_variant | Exon 2 of 2 | NP_001354896.1 | ||
FAM180B | NM_001367968.1 | c.145C>T | p.Pro49Ser | missense_variant | Exon 3 of 3 | NP_001354897.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.331C>T (p.P111S) alteration is located in exon 3 (coding exon 3) of the FAM180B gene. This alteration results from a C to T substitution at nucleotide position 331, causing the proline (P) at amino acid position 111 to be replaced by a serine (S). 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.