chr1-40547047-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_152373.4(ZNF684):c.724C>A(p.Pro242Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000198 in 1,614,072 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152373.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF684 | ENST00000372699.8 | c.724C>A | p.Pro242Thr | missense_variant | Exon 5 of 5 | 1 | NM_152373.4 | ENSP00000361784.3 | ||
ZNF684 | ENST00000648542.1 | c.724C>A | p.Pro242Thr | missense_variant | Exon 6 of 6 | ENSP00000497154.1 | ||||
ZNF684 | ENST00000493756.1 | n.591C>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152186Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461886Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 727242
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.724C>A (p.P242T) alteration is located in exon 5 (coding exon 4) of the ZNF684 gene. This alteration results from a C to A substitution at nucleotide position 724, causing the proline (P) at amino acid position 242 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at