6-57134802-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001031623.3(ZNF451):āc.634T>Gā(p.Phe212Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,708 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 (ā ).
Frequency
Consequence
NM_001031623.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF451 | NM_001031623.3 | c.634T>G | p.Phe212Val | missense_variant | 7/15 | ENST00000370706.9 | |
ZNF451-AS1 | NR_110742.1 | n.235-19239A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF451 | ENST00000370706.9 | c.634T>G | p.Phe212Val | missense_variant | 7/15 | 1 | NM_001031623.3 | P2 | |
ZNF451-AS1 | ENST00000416069.6 | n.444-19239A>C | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460708Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726720
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 15, 2022 | The c.634T>G (p.F212V) alteration is located in exon 7 (coding exon 7) of the ZNF451 gene. This alteration results from a T to G substitution at nucleotide position 634, causing the phenylalanine (F) at amino acid position 212 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
Publications
No publications associated with this variant yet.