14-24631076-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004131.6(GZMB):c.739T>A(p.Tyr247Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,056 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. Y247H) has been classified as Likely benign.
Frequency
Consequence
NM_004131.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GZMB | NM_004131.6 | c.739T>A | p.Tyr247Asn | missense_variant | Exon 5 of 5 | ENST00000216341.9 | NP_004122.2 | |
GZMB | NM_001346011.2 | c.703T>A | p.Tyr235Asn | missense_variant | Exon 5 of 5 | NP_001332940.1 | ||
GZMB | NR_144343.2 | n.633T>A | non_coding_transcript_exon_variant | Exon 4 of 4 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460056Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726498
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at