rs2236338
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_004131.6(GZMB):āc.739T>Cā(p.Tyr247His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.236 in 1,609,608 control chromosomes in the GnomAD database, including 46,605 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 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
NM_004131.6 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GZMB | NM_004131.6 | c.739T>C | p.Tyr247His | missense_variant | 5/5 | ENST00000216341.9 | NP_004122.2 | |
GZMB | NM_001346011.2 | c.703T>C | p.Tyr235His | missense_variant | 5/5 | NP_001332940.1 | ||
GZMB | NR_144343.2 | n.633T>C | non_coding_transcript_exon_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GZMB | ENST00000216341.9 | c.739T>C | p.Tyr247His | missense_variant | 5/5 | 1 | NM_004131.6 | ENSP00000216341 | P2 | |
ENST00000555300.1 | n.177+7950A>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.254 AC: 38572AN: 151936Hom.: 5052 Cov.: 32
GnomAD3 exomes AF: 0.239 AC: 60130AN: 251230Hom.: 7638 AF XY: 0.246 AC XY: 33397AN XY: 135756
GnomAD4 exome AF: 0.235 AC: 341981AN: 1457554Hom.: 41531 Cov.: 30 AF XY: 0.238 AC XY: 172469AN XY: 725336
GnomAD4 genome AF: 0.254 AC: 38645AN: 152054Hom.: 5074 Cov.: 32 AF XY: 0.251 AC XY: 18684AN XY: 74314
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at