6-166329561-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_145169.3(SFT2D1):c.179G>T(p.Gly60Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000206 in 1,456,186 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_145169.3 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 |
---|---|---|---|---|---|---|---|---|
SFT2D1 | NM_145169.3 | c.179G>T | p.Gly60Val | missense_variant | Exon 3 of 8 | ENST00000361731.4 | NP_660152.1 | |
SFT2D1 | NR_130112.2 | n.266G>T | non_coding_transcript_exon_variant | Exon 4 of 9 | ||||
SFT2D1 | NR_130113.2 | n.266G>T | non_coding_transcript_exon_variant | Exon 4 of 7 | ||||
SFT2D1 | NR_130114.2 | n.257G>T | non_coding_transcript_exon_variant | Exon 4 of 7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SFT2D1 | ENST00000361731.4 | c.179G>T | p.Gly60Val | missense_variant | Exon 3 of 8 | 1 | NM_145169.3 | ENSP00000354590.3 | ||
SFT2D1 | ENST00000487841.5 | n.268G>T | non_coding_transcript_exon_variant | Exon 4 of 8 | 1 | |||||
SFT2D1 | ENST00000478705.5 | n.297G>T | non_coding_transcript_exon_variant | Exon 4 of 9 | 2 | |||||
SFT2D1 | ENST00000488773.1 | n.139G>T | non_coding_transcript_exon_variant | Exon 3 of 6 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1456186Hom.: 0 Cov.: 30 AF XY: 0.00000414 AC XY: 3AN XY: 724406
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.179G>T (p.G60V) alteration is located in exon 3 (coding exon 3) of the SFT2D1 gene. This alteration results from a G to T substitution at nucleotide position 179, causing the glycine (G) at amino acid position 60 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.