rs1429038624
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP3BS1_Supporting
The NM_021619.3(PRDM12):c.1044_1045insACC(p.Ala348_Ala349insThr) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000242 in 662,116 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_021619.3 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PRDM12 | ENST00000253008.3 | c.1044_1045insACC | p.Ala348_Ala349insThr | conservative_inframe_insertion | Exon 5 of 5 | 1 | NM_021619.3 | ENSP00000253008.2 | ||
PRDM12 | ENST00000676323.1 | c.906+138_906+139insACC | intron_variant | Intron 5 of 5 | ENSP00000502471.1 |
Frequencies
GnomAD3 genomes AF: 0.0000565 AC: 7AN: 123948Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.0000167 AC: 9AN: 538110Hom.: 0 Cov.: 6 AF XY: 0.0000121 AC XY: 3AN XY: 248358
GnomAD4 genome AF: 0.0000564 AC: 7AN: 124006Hom.: 0 Cov.: 30 AF XY: 0.0000996 AC XY: 6AN XY: 60212
ClinVar
Submissions by phenotype
Congenital insensitivity to pain-hypohidrosis syndrome Uncertain:1
This variant, c.1044_1045insACC, results in the insertion of 1 amino acid(s) of the PRDM12 protein (p.Ala348_Ala349insThr), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PRDM12-related conditions. ClinVar contains an entry for this variant (Variation ID: 475804). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Inborn genetic diseases Uncertain:1
The c.1044_1045insACC (p.A348_A349insT) alteration, located in coding exon 5 of the PRDM12 gene, results from an in-frame insertion of 3 nucleotides at positions c.1044 to c.1045. This results in the insertion of a threonine residue at p.348 to p.349. 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