chr1-43451427-C-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 4P and 16B. PVS1_StrongBP6_Very_StrongBA1
The NM_001243526.2(HYI):c.817+1G>C variant causes a splice donor, intron change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00461 in 1,613,346 control chromosomes in the GnomAD database, including 316 homozygotes. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001243526.2 splice_donor, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HYI | ENST00000372430.9 | c.743G>C | p.Cys248Ser | missense_variant | Exon 7 of 8 | 1 | NM_001190880.3 | ENSP00000361507.4 | ||
SZT2 | ENST00000634258.3 | c.*947C>G | 3_prime_UTR_variant | Exon 72 of 72 | 5 | NM_001365999.1 | ENSP00000489255.1 |
Frequencies
GnomAD3 genomes AF: 0.0249 AC: 3789AN: 152206Hom.: 157 Cov.: 32
GnomAD3 exomes AF: 0.00643 AC: 1612AN: 250526Hom.: 77 AF XY: 0.00457 AC XY: 619AN XY: 135518
GnomAD4 exome AF: 0.00249 AC: 3637AN: 1461022Hom.: 158 Cov.: 33 AF XY: 0.00213 AC XY: 1547AN XY: 726858
GnomAD4 genome AF: 0.0249 AC: 3798AN: 152324Hom.: 158 Cov.: 32 AF XY: 0.0242 AC XY: 1805AN XY: 74494
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | May 18, 2018 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at