19-57678339-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_152677.4(ZSCAN4):c.736G>C(p.Ala246Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000304 in 1,614,034 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152677.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZSCAN4 | NM_152677.4 | c.736G>C | p.Ala246Pro | missense_variant | 5/5 | ENST00000318203.9 | |
ZSCAN4 | NM_001384833.1 | c.736G>C | p.Ala246Pro | missense_variant | 7/7 | ||
ZSCAN4 | XM_017026458.1 | c.736G>C | p.Ala246Pro | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZSCAN4 | ENST00000318203.9 | c.736G>C | p.Ala246Pro | missense_variant | 5/5 | 2 | NM_152677.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000177 AC: 27AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000191 AC: 48AN: 251434Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135894
GnomAD4 exome AF: 0.000317 AC: 463AN: 1461884Hom.: 0 Cov.: 31 AF XY: 0.000312 AC XY: 227AN XY: 727242
GnomAD4 genome ? AF: 0.000177 AC: 27AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.736G>C (p.A246P) alteration is located in exon 5 (coding exon 3) of the ZSCAN4 gene. This alteration results from a G to C substitution at nucleotide position 736, causing the alanine (A) at amino acid position 246 to be replaced by a proline (P). 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