rs141974517
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_001146262.4(SYT14):c.285G>A(p.Ala95=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000694 in 1,613,906 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. A95A) has been classified as Likely benign.
Frequency
Consequence
NM_001146262.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SYT14 | NM_001146262.4 | c.285G>A | p.Ala95= | synonymous_variant | 4/9 | ENST00000367019.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SYT14 | ENST00000367019.6 | c.285G>A | p.Ala95= | synonymous_variant | 4/9 | 1 | NM_001146262.4 |
Frequencies
GnomAD3 genomes ? AF: 0.000132 AC: 20AN: 152078Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000796 AC: 20AN: 251276Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135800
GnomAD4 exome AF: 0.0000623 AC: 91AN: 1461710Hom.: 0 Cov.: 31 AF XY: 0.0000509 AC XY: 37AN XY: 727160
GnomAD4 genome ? AF: 0.000138 AC: 21AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74410
ClinVar
Submissions by phenotype
SYT14-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 14, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | Dec 28, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at