chr7-130023533-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016478.5(ZC3HC1):c.1211G>A(p.Arg404His) variant causes a missense change. The variant allele was found at a frequency of 0.0000378 in 1,614,028 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R404C) has been classified as Uncertain significance.
Frequency
Consequence
NM_016478.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZC3HC1 | ENST00000358303.9 | c.1211G>A | p.Arg404His | missense_variant | Exon 8 of 10 | 1 | NM_016478.5 | ENSP00000351052.4 | ||
ZC3HC1 | ENST00000481503.5 | c.1082G>A | p.Arg361His | missense_variant | Exon 8 of 10 | 5 | ENSP00000418533.1 | |||
ZC3HC1 | ENST00000467642.5 | n.*1095G>A | non_coding_transcript_exon_variant | Exon 9 of 11 | 2 | ENSP00000419509.1 | ||||
ZC3HC1 | ENST00000648450.1 | n.*1221G>A | non_coding_transcript_exon_variant | Exon 10 of 12 | ENSP00000498166.1 | |||||
ZC3HC1 | ENST00000467642.5 | n.*1095G>A | 3_prime_UTR_variant | Exon 9 of 11 | 2 | ENSP00000419509.1 | ||||
ZC3HC1 | ENST00000648450.1 | n.*1221G>A | 3_prime_UTR_variant | Exon 10 of 12 | ENSP00000498166.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251236Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135776
GnomAD4 exome AF: 0.0000363 AC: 53AN: 1461844Hom.: 0 Cov.: 31 AF XY: 0.0000316 AC XY: 23AN XY: 727222
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1211G>A (p.R404H) alteration is located in exon 8 (coding exon 8) of the ZC3HC1 gene. This alteration results from a G to A substitution at nucleotide position 1211, causing the arginine (R) at amino acid position 404 to be replaced by a histidine (H). 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