7-100572569-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001348680.2(SAP25):c.612G>A(p.Met204Ile) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000395 in 152,062 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/19 in silico tools predict a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001348680.2 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SAP25 | NM_001348680.2 | c.612G>A | p.Met204Ile | missense_variant, splice_region_variant | Exon 6 of 6 | ENST00000622764.3 | NP_001335609.1 | |
SAP25 | NM_001168682.3 | c.591G>A | p.Met197Ile | missense_variant, splice_region_variant | Exon 6 of 6 | NP_001162153.2 | ||
SAP25 | NM_001348677.2 | c.318G>A | p.Met106Ile | missense_variant, splice_region_variant | Exon 5 of 5 | NP_001335606.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SAP25 | ENST00000622764.3 | c.612G>A | p.Met204Ile | missense_variant, splice_region_variant | Exon 6 of 6 | 5 | NM_001348680.2 | ENSP00000481773.2 |
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 152062Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1304418Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 636348
GnomAD4 genome AF: 0.0000395 AC: 6AN: 152062Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74262
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.318G>A (p.M106I) alteration is located in exon 6 (coding exon 4) of the SAP25 gene. This alteration results from a G to A substitution at nucleotide position 318, causing the methionine (M) at amino acid position 106 to be replaced by an isoleucine (I). 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