rs1207274571
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000521.4(HEXB):c.33G>A(p.Pro11Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000714 in 1,401,322 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000521.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HEXB | ENST00000261416.12 | c.33G>A | p.Pro11Pro | synonymous_variant | Exon 1 of 14 | 1 | NM_000521.4 | ENSP00000261416.7 | ||
HEXB | ENST00000511181.5 | c.-376-4035G>A | intron_variant | Intron 1 of 13 | 1 | ENSP00000426285.1 | ||||
HEXB | ENST00000513079.5 | n.98G>A | non_coding_transcript_exon_variant | Exon 1 of 6 | 2 | |||||
HEXB | ENST00000515528.1 | n.88G>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 7.14e-7 AC: 1AN: 1401322Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 692966
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.