11-65130692-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBP6_Very_Strong
The NM_172230.3(SYVN1):c.1073A>C(p.His358Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_172230.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 356AN: 13146Hom.: 0 Cov.: 0 FAILED QC
GnomAD3 exomes AF: 0.00451 AC: 217AN: 48092Hom.: 0 AF XY: 0.00427 AC XY: 105AN XY: 24596
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000610 AC: 207AN: 339402Hom.: 0 Cov.: 13 AF XY: 0.000596 AC XY: 103AN XY: 172894
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0271 AC: 357AN: 13174Hom.: 0 Cov.: 0 AF XY: 0.0295 AC XY: 179AN XY: 6078
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at