11-46701135-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001184751.2(ZNF408):āc.22G>Cā(p.Gly8Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0033 in 1,613,928 control chromosomes in the GnomAD database, including 25 homozygotes. In-silico tool predicts a benign outcome for this variant. 5/5 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_001184751.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF408 | ENST00000311764.3 | c.52+36G>C | intron_variant | Intron 1 of 4 | 1 | NM_024741.3 | ENSP00000309606.2 | |||
ZNF408 | ENST00000526410.1 | n.69+36G>C | intron_variant | Intron 1 of 2 | 3 | |||||
ZNF408 | ENST00000531866.1 | n.70+36G>C | intron_variant | Intron 1 of 1 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00576 AC: 876AN: 152170Hom.: 9 Cov.: 33
GnomAD3 exomes AF: 0.00333 AC: 830AN: 248886Hom.: 1 AF XY: 0.00324 AC XY: 437AN XY: 134810
GnomAD4 exome AF: 0.00304 AC: 4445AN: 1461640Hom.: 16 Cov.: 31 AF XY: 0.00300 AC XY: 2182AN XY: 727124
GnomAD4 genome AF: 0.00577 AC: 878AN: 152288Hom.: 9 Cov.: 33 AF XY: 0.00563 AC XY: 419AN XY: 74476
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at