7-155298617-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005542.6(INSIG1):c.332T>C(p.Val111Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000169 in 1,613,520 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005542.6 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
INSIG1 | NM_005542.6 | c.332T>C | p.Val111Ala | missense_variant | Exon 2 of 6 | ENST00000340368.9 | NP_005533.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000342 AC: 52AN: 152148Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000234 AC: 58AN: 247548Hom.: 0 AF XY: 0.000208 AC XY: 28AN XY: 134314
GnomAD4 exome AF: 0.000151 AC: 220AN: 1461254Hom.: 1 Cov.: 31 AF XY: 0.000150 AC XY: 109AN XY: 726910
GnomAD4 genome AF: 0.000342 AC: 52AN: 152266Hom.: 0 Cov.: 33 AF XY: 0.000403 AC XY: 30AN XY: 74452
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.332T>C (p.V111A) alteration is located in exon 2 (coding exon 1) of the INSIG1 gene. This alteration results from a T to C substitution at nucleotide position 332, causing the valine (V) at amino acid position 111 to be replaced by an alanine (A). 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