1-71070863-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_203350.3(ZRANB2):c.647G>A(p.Arg216His) variant causes a missense change. The variant allele was found at a frequency of 0.00000311 in 1,606,836 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R216C) has been classified as Uncertain significance.
Frequency
Consequence
NM_203350.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZRANB2 | NM_203350.3 | c.647G>A | p.Arg216His | missense_variant | 7/10 | ENST00000370920.8 | NP_976225.1 | |
ZRANB2 | NM_005455.5 | c.647G>A | p.Arg216His | missense_variant | 7/11 | NP_005446.2 | ||
ZRANB2 | XM_047434733.1 | c.647G>A | p.Arg216His | missense_variant | 7/10 | XP_047290689.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZRANB2 | ENST00000370920.8 | c.647G>A | p.Arg216His | missense_variant | 7/10 | 1 | NM_203350.3 | ENSP00000359958.3 | ||
ZRANB2 | ENST00000254821.10 | c.647G>A | p.Arg216His | missense_variant | 7/11 | 1 | ENSP00000254821.6 | |||
ZRANB2 | ENST00000611683.1 | c.647G>A | p.Arg216His | missense_variant | 7/10 | 2 | ENSP00000482026.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152098Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248042Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134192
GnomAD4 exome AF: 0.00000275 AC: 4AN: 1454738Hom.: 0 Cov.: 30 AF XY: 0.00000276 AC XY: 2AN XY: 723790
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152098Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74304
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 11, 2024 | The c.647G>A (p.R216H) alteration is located in exon 7 (coding exon 7) of the ZRANB2 gene. This alteration results from a G to A substitution at nucleotide position 647, causing the arginine (R) at amino acid position 216 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