1-247039440-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033213.5(ZNF670):āc.101A>Gā(p.Gln34Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000374 in 1,605,372 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_033213.5 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF670 | NM_033213.5 | c.101A>G | p.Gln34Arg | missense_variant | 2/4 | ENST00000366503.3 | NP_149990.1 | |
ZNF670-ZNF695 | NR_037894.2 | n.218+39154A>G | intron_variant, non_coding_transcript_variant | |||||
ZNF670 | NM_001204220.2 | c.101A>G | p.Gln34Arg | missense_variant | 2/4 | NP_001191149.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF670 | ENST00000366503.3 | c.101A>G | p.Gln34Arg | missense_variant | 2/4 | 1 | NM_033213.5 | ENSP00000355459 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000124 AC: 3AN: 241176Hom.: 0 AF XY: 0.0000153 AC XY: 2AN XY: 130780
GnomAD4 exome AF: 0.00000275 AC: 4AN: 1453056Hom.: 0 Cov.: 30 AF XY: 0.00000277 AC XY: 2AN XY: 722842
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152316Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 26, 2022 | The c.101A>G (p.Q34R) alteration is located in exon 2 (coding exon 2) of the ZNF670 gene. This alteration results from a A to G substitution at nucleotide position 101, causing the glutamine (Q) at amino acid position 34 to be replaced by an arginine (R). 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