rs760492866
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_017757.3(ZNF407):āc.4010A>Cā(p.Tyr1337Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,676 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_017757.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF407 | ENST00000299687.10 | c.4010A>C | p.Tyr1337Ser | missense_variant | Exon 2 of 9 | 1 | NM_017757.3 | ENSP00000299687.4 | ||
ZNF407 | ENST00000577538.5 | c.4010A>C | p.Tyr1337Ser | missense_variant | Exon 1 of 7 | 2 | ENSP00000463270.1 | |||
ZNF407 | ENST00000309902.10 | c.4010A>C | p.Tyr1337Ser | missense_variant | Exon 1 of 4 | 2 | ENSP00000310359.5 | |||
ZNF407 | ENST00000582337.5 | c.4010A>C | p.Tyr1337Ser | missense_variant | Exon 2 of 5 | 5 | ENSP00000462348.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461676Hom.: 0 Cov.: 41 AF XY: 0.00000138 AC XY: 1AN XY: 727122
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at