chr17-28758323-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001077498.3(FAM222B):c.1636C>T(p.Pro546Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000919 in 1,610,070 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. P546P) has been classified as Benign.
Frequency
Consequence
NM_001077498.3 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 |
---|---|---|---|---|---|---|---|
FAM222B | NM_001077498.3 | c.1636C>T | p.Pro546Ser | missense_variant | 3/3 | ENST00000581407.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM222B | ENST00000581407.6 | c.1636C>T | p.Pro546Ser | missense_variant | 3/3 | 1 | NM_001077498.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000367 AC: 9AN: 245106Hom.: 0 AF XY: 0.0000226 AC XY: 3AN XY: 132950
GnomAD4 exome AF: 0.0000947 AC: 138AN: 1457944Hom.: 0 Cov.: 30 AF XY: 0.0000869 AC XY: 63AN XY: 725174
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 22, 2022 | The c.1636C>T (p.P546S) alteration is located in exon 4 (coding exon 2) of the FAM222B gene. This alteration results from a C to T substitution at nucleotide position 1636, causing the proline (P) at amino acid position 546 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