18-35337626-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006965.4(ZNF24):c.713G>A(p.Arg238Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000958 in 1,461,794 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R238T) has been classified as Uncertain significance.
Frequency
Consequence
NM_006965.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF24 | NM_006965.4 | c.713G>A | p.Arg238Lys | missense_variant | Exon 4 of 4 | ENST00000261332.11 | NP_008896.2 | |
ZNF24 | NM_001375815.1 | c.713G>A | p.Arg238Lys | missense_variant | Exon 4 of 4 | NP_001362744.1 | ||
ZNF24 | NM_001308123.2 | c.*1434G>A | 3_prime_UTR_variant | Exon 4 of 4 | NP_001295052.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF24 | ENST00000261332.11 | c.713G>A | p.Arg238Lys | missense_variant | Exon 4 of 4 | 1 | NM_006965.4 | ENSP00000261332.5 | ||
ZNF24 | ENST00000399061.3 | c.713G>A | p.Arg238Lys | missense_variant | Exon 4 of 4 | 1 | ENSP00000382015.2 | |||
ZNF24 | ENST00000589881 | c.*1434G>A | 3_prime_UTR_variant | Exon 3 of 3 | 1 | ENSP00000467655.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251104Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135716
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461794Hom.: 0 Cov.: 36 AF XY: 0.0000110 AC XY: 8AN XY: 727198
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at