14-67754143-G-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_015346.4(ZFYVE26):c.7056C>A(p.Thr2352=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. T2352T) has been classified as Likely benign.
Frequency
Consequence
NM_015346.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZFYVE26 | NM_015346.4 | c.7056C>A | p.Thr2352= | synonymous_variant | 38/42 | ENST00000347230.9 | |
ZFYVE26 | XM_047431173.1 | c.7056C>A | p.Thr2352= | synonymous_variant | 38/42 | ||
ZFYVE26 | XM_047431174.1 | c.4731C>A | p.Thr1577= | synonymous_variant | 27/31 | ||
ZFYVE26 | XM_047431175.1 | c.4638C>A | p.Thr1546= | synonymous_variant | 27/31 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZFYVE26 | ENST00000347230.9 | c.7056C>A | p.Thr2352= | synonymous_variant | 38/42 | 1 | NM_015346.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at