rs368667714
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_033390.2(ZC3H12C):c.788A>C(p.Glu263Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000416 in 1,612,360 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033390.2 missense
Scores
Clinical Significance
Conservation
Publications
- nonsyndromic genetic hearing lossInheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
- autosomal recessive nonsyndromic hearing loss 24Inheritance: AR Classification: STRONG Submitted by: PanelApp Australia, Ambry Genetics, Labcorp Genetics (formerly Invitae)
- hearing loss, autosomal recessiveInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZC3H12C | ENST00000278590.8 | c.788A>C | p.Glu263Ala | missense_variant | Exon 3 of 6 | 2 | NM_033390.2 | ENSP00000278590.3 | ||
ZC3H12C | ENST00000528673.5 | c.791A>C | p.Glu264Ala | missense_variant | Exon 3 of 6 | 2 | ENSP00000431821.1 | |||
ZC3H12C | ENST00000453089.2 | c.695A>C | p.Glu232Ala | missense_variant | Exon 2 of 5 | 2 | ENSP00000413094.2 | |||
RDX | ENST00000645527.1 | n.*251-21203T>G | intron_variant | Intron 15 of 18 | ENSP00000496121.1 |
Frequencies
GnomAD3 genomes AF: 0.000282 AC: 43AN: 152218Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.000240 AC: 59AN: 246270 AF XY: 0.000277 show subpopulations
GnomAD4 exome AF: 0.000430 AC: 628AN: 1460142Hom.: 0 Cov.: 33 AF XY: 0.000421 AC XY: 306AN XY: 726114 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.000282 AC: 43AN: 152218Hom.: 0 Cov.: 33 AF XY: 0.000215 AC XY: 16AN XY: 74358 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.788A>C (p.E263A) alteration is located in exon 3 (coding exon 3) of the ZC3H12C gene. This alteration results from a A to C substitution at nucleotide position 788, causing the glutamic acid (E) at amino acid position 263 to be replaced by an alanine (A). 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