rs763757845
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP5_Moderate
The NM_032829.3(FAM222A):c.284A>T(p.His95Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000155 in 1,612,640 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely pathogenic (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H95Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_032829.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM222A | NM_032829.3 | c.284A>T | p.His95Leu | missense_variant | 3/3 | ENST00000538780.2 | |
FAM222A-AS1 | NR_026662.2 | n.191+5084T>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM222A | ENST00000538780.2 | c.284A>T | p.His95Leu | missense_variant | 3/3 | 1 | NM_032829.3 | P1 | |
FAM222A-AS1 | ENST00000541723.5 | n.212+5084T>A | intron_variant, non_coding_transcript_variant | 2 | |||||
FAM222A | ENST00000358906.3 | c.284A>T | p.His95Leu | missense_variant | 3/3 | 5 | P1 | ||
FAM222A-AS1 | ENST00000541460.2 | n.189+5084T>A | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152200Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247506Hom.: 0 AF XY: 0.00000745 AC XY: 1AN XY: 134232
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1460440Hom.: 0 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 726466
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152200Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74362
ClinVar
Submissions by phenotype
Abnormal brain morphology Pathogenic:1
Likely pathogenic, criteria provided, single submitter | research | Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at