NM_182607.5:c.438C>T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_182607.5(VSIG1):c.438C>T(p.Ser146Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000195 in 1,209,437 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 68 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_182607.5 synonymous
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.438C>T | p.Ser146Ser | synonymous_variant | Exon 4 of 7 | 1 | NM_182607.5 | ENSP00000217957.3 | ||
VSIG1 | ENST00000415430.7 | c.546C>T | p.Ser182Ser | synonymous_variant | Exon 5 of 8 | 2 | ENSP00000402219.3 | |||
VSIG1 | ENST00000485533.1 | n.274C>T | non_coding_transcript_exon_variant | Exon 3 of 4 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000223 AC: 25AN: 111867Hom.: 0 Cov.: 23 AF XY: 0.0000881 AC XY: 3AN XY: 34035
GnomAD3 exomes AF: 0.000169 AC: 31AN: 183171Hom.: 0 AF XY: 0.000236 AC XY: 16AN XY: 67669
GnomAD4 exome AF: 0.000192 AC: 211AN: 1097518Hom.: 0 Cov.: 29 AF XY: 0.000179 AC XY: 65AN XY: 362944
GnomAD4 genome AF: 0.000223 AC: 25AN: 111919Hom.: 0 Cov.: 23 AF XY: 0.0000880 AC XY: 3AN XY: 34097
ClinVar
Submissions by phenotype
not provided Benign:1
VSIG1: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at