chr6-89098939-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_080743.5(SRSF12):āc.425A>Cā(p.His142Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000285 in 1,611,668 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_080743.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRSF12 | NM_080743.5 | c.425A>C | p.His142Pro | missense_variant | 5/5 | ENST00000452027.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRSF12 | ENST00000452027.3 | c.425A>C | p.His142Pro | missense_variant | 5/5 | 1 | NM_080743.5 | P1 | |
SRSF12 | ENST00000488604.1 | n.691A>C | non_coding_transcript_exon_variant | 3/3 | 2 | ||||
SRSF12 | ENST00000524221.1 | n.707A>C | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000223 AC: 34AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000129 AC: 32AN: 247478Hom.: 0 AF XY: 0.000119 AC XY: 16AN XY: 134312
GnomAD4 exome AF: 0.000292 AC: 426AN: 1459504Hom.: 0 Cov.: 30 AF XY: 0.000278 AC XY: 202AN XY: 725920
GnomAD4 genome AF: 0.000223 AC: 34AN: 152164Hom.: 0 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 06, 2021 | The c.425A>C (p.H142P) alteration is located in exon 5 (coding exon 5) of the SRSF12 gene. This alteration results from a A to C substitution at nucleotide position 425, causing the histidine (H) at amino acid position 142 to be replaced by a proline (P). 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