7-44201228-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_006555.4(YKT6):c.93C>G(p.Phe31Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,044 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_006555.4 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 |
---|---|---|---|---|---|---|---|---|
YKT6 | NM_006555.4 | c.93C>G | p.Phe31Leu | missense_variant | Exon 1 of 7 | ENST00000223369.3 | NP_006546.1 | |
YKT6 | NM_001410874.1 | c.93C>G | p.Phe31Leu | missense_variant | Exon 1 of 8 | NP_001397803.1 | ||
YKT6 | NM_001363678.2 | c.93C>G | p.Phe31Leu | missense_variant | Exon 1 of 6 | NP_001350607.1 | ||
YKT6 | XM_054328423.1 | c.93C>G | p.Phe31Leu | missense_variant | Exon 1 of 7 | XP_054184398.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460044Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726220
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.93C>G (p.F31L) alteration is located in exon 1 (coding exon 1) of the YKT6 gene. This alteration results from a C to G substitution at nucleotide position 93, causing the phenylalanine (F) at amino acid position 31 to be replaced by a leucine (L). 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.