12-133106271-A-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003440.4(ZNF140):āc.994A>Cā(p.Asn332His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,870 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_003440.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF140 | NM_003440.4 | c.994A>C | p.Asn332His | missense_variant | 5/5 | ENST00000355557.7 | |
ZNF891 | NM_001277291.2 | c.*14013T>G | 3_prime_UTR_variant | 2/2 | ENST00000537226.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF140 | ENST00000355557.7 | c.994A>C | p.Asn332His | missense_variant | 5/5 | 1 | NM_003440.4 | P1 | |
ZNF891 | ENST00000537226.3 | c.*14013T>G | 3_prime_UTR_variant | 2/2 | 2 | NM_001277291.2 | P2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461870Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 727228
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at