rs2278420
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_021632.4(ZNF350):āc.197T>Cā(p.Leu66Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.18 in 1,613,762 control chromosomes in the GnomAD database, including 29,013 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_021632.4 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 |
---|---|---|---|---|---|---|---|
ZNF350 | NM_021632.4 | c.197T>C | p.Leu66Pro | missense_variant | 4/5 | ENST00000243644.9 | |
ZNF350-AS1 | NR_103847.1 | n.103-7772A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF350 | ENST00000243644.9 | c.197T>C | p.Leu66Pro | missense_variant | 4/5 | 1 | NM_021632.4 | P1 | |
ZNF350-AS1 | ENST00000595010.4 | n.121-7772A>G | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.235 AC: 35738AN: 151900Hom.: 4989 Cov.: 32
GnomAD3 exomes AF: 0.203 AC: 51077AN: 251432Hom.: 5679 AF XY: 0.201 AC XY: 27304AN XY: 135892
GnomAD4 exome AF: 0.174 AC: 254920AN: 1461742Hom.: 23996 Cov.: 33 AF XY: 0.176 AC XY: 128082AN XY: 727178
GnomAD4 genome ? AF: 0.236 AC: 35828AN: 152020Hom.: 5017 Cov.: 32 AF XY: 0.240 AC XY: 17831AN XY: 74318
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at