rs2239730
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_013250.4(ZNF215):āc.967G>Cā(p.Val323Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.208 in 1,612,506 control chromosomes in the GnomAD database, including 37,006 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_013250.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF215 | NM_013250.4 | c.967G>C | p.Val323Leu | missense_variant | 7/7 | ENST00000278319.10 | |
LOC102724711 | XR_002957236.2 | n.1980-170C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF215 | ENST00000278319.10 | c.967G>C | p.Val323Leu | missense_variant | 7/7 | 1 | NM_013250.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.239 AC: 36271AN: 152000Hom.: 4709 Cov.: 33
GnomAD3 exomes AF: 0.189 AC: 47091AN: 249142Hom.: 5098 AF XY: 0.184 AC XY: 24781AN XY: 134980
GnomAD4 exome AF: 0.205 AC: 299208AN: 1460388Hom.: 32291 Cov.: 37 AF XY: 0.201 AC XY: 145823AN XY: 726446
GnomAD4 genome ? AF: 0.239 AC: 36303AN: 152118Hom.: 4715 Cov.: 33 AF XY: 0.237 AC XY: 17627AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at