8-6870689-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_005218.4(DEFB1):āc.199T>Gā(p.Cys67Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000616 in 1,461,526 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C67S) has been classified as Likely benign.
Frequency
Consequence
NM_005218.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DEFB1 | NM_005218.4 | c.199T>G | p.Cys67Gly | missense_variant | 2/2 | ENST00000297439.4 | NP_005209.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DEFB1 | ENST00000297439.4 | c.199T>G | p.Cys67Gly | missense_variant | 2/2 | 1 | NM_005218.4 | ENSP00000297439.3 | ||
GS1-24F4.2 | ENST00000531701.1 | n.226-14433A>C | intron_variant | 3 | ||||||
GS1-24F4.2 | ENST00000655804.1 | n.323-2492A>C | intron_variant |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461526Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727048
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at