chr8-6870757-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_005218.4(DEFB1):c.131G>A(p.Cys44Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000372 in 1,614,228 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005218.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DEFB1 | ENST00000297439.4 | c.131G>A | p.Cys44Tyr | missense_variant | Exon 2 of 2 | 1 | NM_005218.4 | ENSP00000297439.3 | ||
GS1-24F4.2 | ENST00000531701.1 | n.226-14365C>T | intron_variant | Intron 2 of 2 | 3 | |||||
GS1-24F4.2 | ENST00000655804.1 | n.323-2424C>T | intron_variant | Intron 2 of 2 | ||||||
GS1-24F4.2 | ENST00000657010.1 | n.*119C>T | downstream_gene_variant |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152222Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251464Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135908
GnomAD4 exome AF: 0.0000383 AC: 56AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.0000385 AC XY: 28AN XY: 727244
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152340Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.131G>A (p.C44Y) alteration is located in exon 2 (coding exon 2) of the DEFB1 gene. This alteration results from a G to A substitution at nucleotide position 131, causing the cysteine (C) at amino acid position 44 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at