14-67755116-G-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_015346.4(ZFYVE26):c.6921C>A(p.Ser2307=) 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. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. S2307S) has been classified as Benign.
Frequency
Consequence
NM_015346.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZFYVE26 | NM_015346.4 | c.6921C>A | p.Ser2307= | synonymous_variant | 37/42 | ENST00000347230.9 | |
ZFYVE26 | XM_047431173.1 | c.6921C>A | p.Ser2307= | synonymous_variant | 37/42 | ||
ZFYVE26 | XM_047431174.1 | c.4596C>A | p.Ser1532= | synonymous_variant | 26/31 | ||
ZFYVE26 | XM_047431175.1 | c.4503C>A | p.Ser1501= | synonymous_variant | 26/31 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZFYVE26 | ENST00000347230.9 | c.6921C>A | p.Ser2307= | synonymous_variant | 37/42 | 1 | NM_015346.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Spastic paraplegia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 16, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.