12-131711311-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004592.4(SFSWAP):c.82G>T(p.Gly28Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,461,068 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G28D) has been classified as Uncertain significance.
Frequency
Consequence
NM_004592.4 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 |
---|---|---|---|---|---|---|---|
SFSWAP | NM_004592.4 | c.82G>T | p.Gly28Cys | missense_variant | 1/18 | ENST00000261674.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SFSWAP | ENST00000261674.9 | c.82G>T | p.Gly28Cys | missense_variant | 1/18 | 1 | NM_004592.4 | P4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000817 AC: 2AN: 244868Hom.: 0 AF XY: 0.00000751 AC XY: 1AN XY: 133158
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461068Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726848
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 21, 2023 | The c.82G>T (p.G28C) alteration is located in exon 1 (coding exon 1) of the SFSWAP gene. This alteration results from a G to T substitution at nucleotide position 82, causing the glycine (G) at amino acid position 28 to be replaced by a cysteine (C). 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