14-105644567-T-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The ENST00000641095.1(IGHG2):c.224A>G(p.Asn75Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00635 in 772,380 control chromosomes in the GnomAD database, including 87 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.224A>G | p.Asn75Ser | missense_variant | 1/6 | P5 | |||
IGHG2 | ENST00000390545.3 | c.224A>G | p.Asn75Ser | missense_variant | 1/4 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00569 AC: 841AN: 147878Hom.: 14 Cov.: 33
GnomAD3 exomes AF: 0.00127 AC: 312AN: 245830Hom.: 7 AF XY: 0.00130 AC XY: 174AN XY: 133564
GnomAD4 exome AF: 0.00650 AC: 4061AN: 624384Hom.: 73 Cov.: 0 AF XY: 0.00667 AC XY: 2270AN XY: 340096
GnomAD4 genome ? AF: 0.00568 AC: 840AN: 147996Hom.: 14 Cov.: 33 AF XY: 0.00505 AC XY: 366AN XY: 72410
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