chr14-105741749-A-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000390548.6(IGHG1):āc.717T>Gā(p.Asp239Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.557 in 733,814 control chromosomes in the GnomAD database, including 138,915 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. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000390548.6 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IGHG1 | ENST00000390548.6 | c.717T>G | p.Asp239Glu | missense_variant | 4/6 | P5 | |||
IGHG1 | ENST00000390549.6 | c.717T>G | p.Asp239Glu | missense_variant | 4/4 | A2 | |||
IGHG1 | ENST00000390542.6 | c.612T>G | p.Asp204Glu | missense_variant | 5/5 | A2 |
Frequencies
GnomAD3 genomes AF: 0.471 AC: 69790AN: 148086Hom.: 21515 Cov.: 26
GnomAD3 exomes AF: 0.388 AC: 72245AN: 186100Hom.: 26311 AF XY: 0.403 AC XY: 39672AN XY: 98500
GnomAD4 exome AF: 0.578 AC: 338721AN: 585600Hom.: 117407 Cov.: 0 AF XY: 0.589 AC XY: 186586AN XY: 317000
GnomAD4 genome AF: 0.471 AC: 69767AN: 148214Hom.: 21508 Cov.: 26 AF XY: 0.459 AC XY: 33133AN XY: 72130
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at