chr14-64002788-A-G
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_182914.3(SYNE2):āc.3855A>Gā(p.Val1285=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000374 in 1,605,608 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. V1285V) has been classified as Likely benign.
Frequency
Consequence
NM_182914.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SYNE2 | NM_182914.3 | c.3855A>G | p.Val1285= | synonymous_variant | 30/116 | ENST00000555002.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SYNE2 | ENST00000555002.6 | c.3855A>G | p.Val1285= | synonymous_variant | 30/116 | 1 | NM_182914.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00000694 AC: 1AN: 143992Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248968Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135084
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461616Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 727068
GnomAD4 genome AF: 0.00000694 AC: 1AN: 143992Hom.: 0 Cov.: 32 AF XY: 0.0000142 AC XY: 1AN XY: 70628
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at