chr1-207124277-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000715.4(C4BPA):c.617G>A(p.Arg206His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000521 in 1,613,786 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000715.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
C4BPA | NM_000715.4 | c.617G>A | p.Arg206His | missense_variant | 6/12 | ENST00000367070.8 | |
C4BPA | XM_005273251.3 | c.617G>A | p.Arg206His | missense_variant | 6/12 | ||
C4BPA | XM_005273252.5 | c.617G>A | p.Arg206His | missense_variant | 6/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C4BPA | ENST00000367070.8 | c.617G>A | p.Arg206His | missense_variant | 6/12 | 1 | NM_000715.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000303 AC: 46AN: 152052Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000315 AC: 79AN: 250830Hom.: 0 AF XY: 0.000391 AC XY: 53AN XY: 135550
GnomAD4 exome AF: 0.000545 AC: 796AN: 1461616Hom.: 1 Cov.: 33 AF XY: 0.000543 AC XY: 395AN XY: 727126
GnomAD4 genome ? AF: 0.000296 AC: 45AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.000255 AC XY: 19AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 17, 2021 | The c.617G>A (p.R206H) alteration is located in exon 6 (coding exon 5) of the C4BPA gene. This alteration results from a G to A substitution at nucleotide position 617, causing the arginine (R) at amino acid position 206 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