chr19-11483702-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_138783.4(ZNF653):c.1828C>T(p.Pro610Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000685 in 1,460,836 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P610A) has been classified as Uncertain significance.
Frequency
Consequence
NM_138783.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF653 | NM_138783.4 | c.1828C>T | p.Pro610Ser | missense_variant | 9/9 | ENST00000293771.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF653 | ENST00000293771.10 | c.1828C>T | p.Pro610Ser | missense_variant | 9/9 | 1 | NM_138783.4 | P1 | |
ZNF653 | ENST00000590296.5 | c.401C>T | p.Pro134Leu | missense_variant | 4/4 | 3 | |||
ZNF653 | ENST00000589051.1 | c.*102C>T | 3_prime_UTR_variant | 3/3 | 5 | ||||
ZNF653 | ENST00000590548.5 | n.1996C>T | non_coding_transcript_exon_variant | 8/8 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250376Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135634
GnomAD4 exome AF: 0.00000685 AC: 10AN: 1460836Hom.: 0 Cov.: 33 AF XY: 0.00000688 AC XY: 5AN XY: 726668
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 22, 2022 | The c.1828C>T (p.P610S) alteration is located in exon 9 (coding exon 9) of the ZNF653 gene. This alteration results from a C to T substitution at nucleotide position 1828, causing the proline (P) at amino acid position 610 to be replaced by a serine (S). 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