chr1-246987353-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_020394.5(ZNF695):c.1162G>A(p.Ala388Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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_020394.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF695 | NM_020394.5 | c.1162G>A | p.Ala388Thr | missense_variant | Exon 4 of 4 | ENST00000339986.8 | NP_065127.5 | |
ZNF695 | NM_001204221.2 | c.390+772G>A | intron_variant | Intron 4 of 5 | NP_001191150.2 | |||
ZNF695 | NR_037892.2 | n.543+768G>A | intron_variant | Intron 4 of 5 | ||||
ZNF670-ZNF695 | NR_037894.2 | n.573+768G>A | intron_variant | Intron 4 of 6 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1162G>A (p.A388T) alteration is located in exon 4 (coding exon 4) of the ZNF695 gene. This alteration results from a G to A substitution at nucleotide position 1162, causing the alanine (A) at amino acid position 388 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
Publications
No publications associated with this variant yet.