chr1-150997360-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001376665.1(MINDY1):c.1337G>A(p.Gly446Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00005 in 1,600,190 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 (★).
Frequency
Consequence
NM_001376665.1 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 |
---|---|---|---|---|---|---|---|---|
MINDY1 | NM_001376665.1 | c.1337G>A | p.Gly446Glu | missense_variant | Exon 10 of 10 | ENST00000683666.2 | NP_001363594.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152218Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000799 AC: 18AN: 225394Hom.: 0 AF XY: 0.000115 AC XY: 14AN XY: 122136
GnomAD4 exome AF: 0.0000483 AC: 70AN: 1447972Hom.: 0 Cov.: 31 AF XY: 0.0000556 AC XY: 40AN XY: 719154
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152218Hom.: 0 Cov.: 34 AF XY: 0.0000538 AC XY: 4AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1481G>A (p.G494E) alteration is located in exon 11 (coding exon 10) of the FAM63A gene. This alteration results from a G to A substitution at nucleotide position 1481, causing the glycine (G) at amino acid position 494 to be replaced by a glutamic acid (E). 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