NM_024948.4:c.946G>C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_024948.4(MINDY3):c.946G>C(p.Asp316His) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,459,864 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024948.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MINDY3 | NM_024948.4 | c.946G>C | p.Asp316His | missense_variant | Exon 11 of 15 | ENST00000277632.8 | NP_079224.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250668Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135472
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459864Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726268
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.946G>C (p.D316H) alteration is located in exon 11 (coding exon 11) of the FAM188A gene. This alteration results from a G to C substitution at nucleotide position 946, causing the aspartic acid (D) at amino acid position 316 to be replaced by a histidine (H). 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