14-105644577-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000641095.1(IGHG2):c.214C>A(p.Pro72Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.393 in 774,208 control chromosomes in the GnomAD database, including 66,816 homozygotes. In-silico tool predicts a benign outcome for this variant. 6/6 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000641095.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 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.214C>A | p.Pro72Thr | missense_variant | 1/6 | P5 | |||
IGHG2 | ENST00000390545.3 | c.214C>A | p.Pro72Thr | missense_variant | 1/4 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.334 AC: 49734AN: 148816Hom.: 10319 Cov.: 33
GnomAD3 exomes AF: 0.395 AC: 97037AN: 245892Hom.: 22172 AF XY: 0.408 AC XY: 54535AN XY: 133544
GnomAD4 exome AF: 0.407 AC: 254466AN: 625270Hom.: 56495 Cov.: 0 AF XY: 0.413 AC XY: 140865AN XY: 340702
GnomAD4 genome ? AF: 0.334 AC: 49721AN: 148938Hom.: 10321 Cov.: 33 AF XY: 0.332 AC XY: 24153AN XY: 72666
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at