chr14-105644563-G-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The ENST00000641095.1(IGHG2):c.228C>G(p.Phe76Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00638 in 774,688 control chromosomes in the GnomAD database, including 88 homozygotes. In-silico tool predicts a benign outcome for this variant. 6/6 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
ENST00000641095.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IGHG2 | ENST00000641095.1 | c.228C>G | p.Phe76Leu | missense_variant | 1/6 | P5 | |||
IGHG2 | ENST00000390545.3 | c.228C>G | p.Phe76Leu | missense_variant | 1/4 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00566 AC: 850AN: 150084Hom.: 15 Cov.: 33
GnomAD3 exomes AF: 0.00127 AC: 312AN: 245704Hom.: 7 AF XY: 0.00131 AC XY: 175AN XY: 133496
GnomAD4 exome AF: 0.00655 AC: 4091AN: 624484Hom.: 73 Cov.: 0 AF XY: 0.00673 AC XY: 2288AN XY: 340158
GnomAD4 genome ? AF: 0.00565 AC: 849AN: 150204Hom.: 15 Cov.: 33 AF XY: 0.00508 AC XY: 373AN XY: 73448
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Dec 01, 2022 | RP11-731F5.1: BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at