chr1-112541974-T-C
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017744.5(ST7L):c.1606A>G(p.Ile536Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,613,736 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017744.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152206Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461530Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727052 show subpopulations
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74362 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1606A>G (p.I536V) alteration is located in exon 14 (coding exon 14) of the ST7L gene. This alteration results from a A to G substitution at nucleotide position 1606, causing the isoleucine (I) at amino acid position 536 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