chr7-64077672-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001159522.3(ZNF727):c.623C>T(p.Ala208Val) 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. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001159522.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF727 | NM_001159522.3 | c.623C>T | p.Ala208Val | missense_variant | Exon 4 of 4 | ENST00000456806.3 | NP_001152994.1 | |
ZNF727 | XM_017012225.3 | c.527C>T | p.Ala176Val | missense_variant | Exon 3 of 3 | XP_016867714.1 | ||
ZNF727 | XR_242241.4 | n.811C>T | non_coding_transcript_exon_variant | Exon 4 of 5 | ||||
ZNF727 | XR_927469.2 | n.811C>T | non_coding_transcript_exon_variant | Exon 4 of 5 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 36
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.623C>T (p.A208V) alteration is located in exon 4 (coding exon 4) of the ZNF727 gene. This alteration results from a C to T substitution at nucleotide position 623, causing the alanine (A) at amino acid position 208 to be replaced by a valine (V). 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