chr22-28742108-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_172002.5(HSCB):āc.13A>Gā(p.Arg5Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R5T) has been classified as Uncertain significance.
Frequency
Consequence
NM_172002.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HSCB | NM_172002.5 | c.13A>G | p.Arg5Gly | missense_variant | 1/6 | ENST00000216027.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HSCB | ENST00000216027.8 | c.13A>G | p.Arg5Gly | missense_variant | 1/6 | 1 | NM_172002.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 151796Hom.: 0 Cov.: 32 FAILED QC
GnomAD3 exomes AF: 0.00363 AC: 562AN: 154740Hom.: 0 AF XY: 0.00414 AC XY: 348AN XY: 84070
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000467 AC: 652AN: 1397592Hom.: 0 Cov.: 32 AF XY: 0.000569 AC XY: 393AN XY: 690218
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000659 AC: 1AN: 151796Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74110
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Mendelics | May 28, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at