chr8-81713971-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024699.3(ZFAND1):c.427G>A(p.Val143Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000248 in 1,612,602 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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. V143F) has been classified as Uncertain significance.
Frequency
Consequence
NM_024699.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZFAND1 | NM_024699.3 | c.427G>A | p.Val143Ile | missense_variant | 6/8 | ENST00000220669.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZFAND1 | ENST00000220669.10 | c.427G>A | p.Val143Ile | missense_variant | 6/8 | 1 | NM_024699.3 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250006Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135112
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1460428Hom.: 0 Cov.: 30 AF XY: 0.0000234 AC XY: 17AN XY: 726472
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 11, 2022 | The c.427G>A (p.V143I) alteration is located in exon 6 (coding exon 6) of the ZFAND1 gene. This alteration results from a G to A substitution at nucleotide position 427, causing the valine (V) at amino acid position 143 to be replaced by an isoleucine (I). 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