rs373502685
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_017757.3(ZNF407):c.2775G>A(p.Gly925=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,682 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. G925G) has been classified as Likely benign.
Frequency
Consequence
NM_017757.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF407 | NM_017757.3 | c.2775G>A | p.Gly925= | synonymous_variant | 2/9 | ENST00000299687.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF407 | ENST00000299687.10 | c.2775G>A | p.Gly925= | synonymous_variant | 2/9 | 1 | NM_017757.3 | P2 | |
ZNF407 | ENST00000577538.5 | c.2775G>A | p.Gly925= | synonymous_variant | 1/7 | 2 | A2 | ||
ZNF407 | ENST00000309902.10 | c.2775G>A | p.Gly925= | synonymous_variant | 1/4 | 2 | |||
ZNF407 | ENST00000582337.5 | c.2775G>A | p.Gly925= | synonymous_variant | 2/5 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249186Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135194
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461682Hom.: 0 Cov.: 44 AF XY: 0.00000138 AC XY: 1AN XY: 727124
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at