chr11-113733749-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004724.4(ZW10):c.2285G>A(p.Arg762His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,613,952 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004724.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZW10 | ENST00000200135.8 | c.2285G>A | p.Arg762His | missense_variant | Exon 16 of 16 | 1 | NM_004724.4 | ENSP00000200135.3 | ||
ZW10 | ENST00000535142.5 | n.*217G>A | non_coding_transcript_exon_variant | Exon 16 of 16 | 2 | ENSP00000440879.1 | ||||
ZW10 | ENST00000535142.5 | n.*217G>A | 3_prime_UTR_variant | Exon 16 of 16 | 2 | ENSP00000440879.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000320 AC: 8AN: 249782Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135174
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461768Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 727174
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2285G>A (p.R762H) alteration is located in exon 16 (coding exon 16) of the ZW10 gene. This alteration results from a G to A substitution at nucleotide position 2285, causing the arginine (R) at amino acid position 762 to be replaced by a histidine (H). 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