chr6-32029296-G-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PP2BP4_Moderate
The NM_001002029.4(C4B):c.3634G>A(p.Val1212Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000102 in 1,566,798 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001002029.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
C4B | NM_001002029.4 | c.3634G>A | p.Val1212Ile | missense_variant | 28/41 | ENST00000435363.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C4B | ENST00000435363.7 | c.3634G>A | p.Val1212Ile | missense_variant | 28/41 | 1 | NM_001002029.4 | P1 | |
C4B | ENST00000425700.3 | c.3634G>A | p.Val1212Ile | missense_variant | 28/40 | 1 | |||
C4B | ENST00000647698.1 | c.2341G>A | p.Val781Ile | missense_variant | 18/31 | ||||
C4B | ENST00000648821.1 | n.2247G>A | non_coding_transcript_exon_variant | 15/27 |
Frequencies
GnomAD3 genomes ? AF: 0.0000273 AC: 4AN: 146406Hom.: 1 Cov.: 26
GnomAD3 exomes AF: 0.0000124 AC: 3AN: 241636Hom.: 0 AF XY: 0.00000765 AC XY: 1AN XY: 130802
GnomAD4 exome AF: 0.00000845 AC: 12AN: 1420392Hom.: 3 Cov.: 34 AF XY: 0.00000708 AC XY: 5AN XY: 706680
GnomAD4 genome ? AF: 0.0000273 AC: 4AN: 146406Hom.: 1 Cov.: 26 AF XY: 0.0000561 AC XY: 4AN XY: 71258
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 03, 2024 | The c.3634G>A (p.V1212I) alteration is located in exon 28 (coding exon 28) of the C4B gene. This alteration results from a G to A substitution at nucleotide position 3634, causing the valine (V) at amino acid position 1212 to be replaced by an isoleucine (I). 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