chrX-108077278-C-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_182607.5(VSIG1):c.1061C>A(p.Thr354Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000967 in 1,210,321 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 27 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_182607.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VSIG1 | ENST00000217957.10 | c.1061C>A | p.Thr354Lys | missense_variant | Exon 7 of 7 | 1 | NM_182607.5 | ENSP00000217957.3 | ||
VSIG1 | ENST00000415430.7 | c.1169C>A | p.Thr390Lys | missense_variant | Exon 8 of 8 | 2 | ENSP00000402219.3 |
Frequencies
GnomAD3 genomes AF: 0.000580 AC: 65AN: 112020Hom.: 0 Cov.: 23 AF XY: 0.000439 AC XY: 15AN XY: 34174
GnomAD3 exomes AF: 0.000153 AC: 28AN: 183309Hom.: 0 AF XY: 0.0000885 AC XY: 6AN XY: 67803
GnomAD4 exome AF: 0.0000464 AC: 51AN: 1098250Hom.: 0 Cov.: 31 AF XY: 0.0000330 AC XY: 12AN XY: 363610
GnomAD4 genome AF: 0.000589 AC: 66AN: 112071Hom.: 0 Cov.: 23 AF XY: 0.000438 AC XY: 15AN XY: 34235
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1169C>A (p.T390K) alteration is located in exon 8 (coding exon 8) of the VSIG1 gene. This alteration results from a C to A substitution at nucleotide position 1169, causing the threonine (T) at amino acid position 390 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at