19-51338058-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001163922.3(VSIG10L):c.1880G>A(p.Arg627His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00498 in 1,551,558 control chromosomes in the GnomAD database, including 374 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_001163922.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0266 AC: 4043AN: 152092Hom.: 200 Cov.: 31
GnomAD3 exomes AF: 0.00555 AC: 868AN: 156452Hom.: 36 AF XY: 0.00421 AC XY: 349AN XY: 82950
GnomAD4 exome AF: 0.00262 AC: 3671AN: 1399350Hom.: 173 Cov.: 31 AF XY: 0.00229 AC XY: 1580AN XY: 690184
GnomAD4 genome AF: 0.0267 AC: 4058AN: 152208Hom.: 201 Cov.: 31 AF XY: 0.0257 AC XY: 1913AN XY: 74410
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at