1-146019625-GCCTCCT-GCCT
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP3
The NM_213653.4(HJV):c.204_206delAGG(p.Gly69del) variant causes a disruptive inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000249 in 1,602,540 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★★). Synonymous variant affecting the same amino acid position (i.e. G68G) has been classified as Likely benign.
Frequency
Consequence
NM_213653.4 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HJV | NM_213653.4 | c.204_206delAGG | p.Gly69del | disruptive_inframe_deletion | Exon 3 of 4 | ENST00000336751.11 | NP_998818.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 151906Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000259 AC: 376AN: 1450518Hom.: 1 AF XY: 0.000274 AC XY: 198AN XY: 721938
GnomAD4 genome AF: 0.000151 AC: 23AN: 152022Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74326
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Juvenile hemochromatosis Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at