rs752943294
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
The NM_145806.4(ZNF511):c.19C>A(p.Leu7Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000434 in 1,240,250 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145806.4 missense
Scores
Clinical Significance
Conservation
Publications
- Norman-Roberts syndromeInheritance: AR Classification: STRONG Submitted by: PanelApp Australia
- pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizuresInheritance: AR Classification: STRONG, LIMITED Submitted by: Labcorp Genetics (formerly Invitae), Ambry Genetics
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ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000520 AC: 79AN: 151874Hom.: 0 Cov.: 34 show subpopulations
GnomAD2 exomes AF: 0.000595 AC: 5AN: 8398 AF XY: 0.000979 show subpopulations
GnomAD4 exome AF: 0.000422 AC: 459AN: 1088268Hom.: 1 Cov.: 30 AF XY: 0.000453 AC XY: 233AN XY: 514238 show subpopulations
GnomAD4 genome AF: 0.000520 AC: 79AN: 151982Hom.: 0 Cov.: 34 AF XY: 0.000713 AC XY: 53AN XY: 74308 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.19C>A (p.L7M) alteration is located in exon 1 (coding exon 1) of the ZNF511 gene. This alteration results from a C to A substitution at nucleotide position 19, causing the leucine (L) at amino acid position 7 to be replaced by a methionine (M). 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