1-9244919-CCCCAGGCA-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 4P and 16B. PVS1_StrongBP6_Very_StrongBA1
The ENST00000377403(H6PD):c.-10-5_-8delCCCAGGCA variant causes a splice acceptor, splice region, 5 prime UTR, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.144 in 1,609,272 control chromosomes in the GnomAD database, including 18,758 homozygotes. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
ENST00000377403 splice_acceptor, splice_region, 5_prime_UTR, intron
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
H6PD | NM_004285.4 | c.-7_1delCCCAGGCA | p.Met1fs | frameshift_variant, start_lost | Exon 2 of 5 | ENST00000377403.7 | NP_004276.2 | |
H6PD | NM_004285.4 | c.-7_1delCCCAGGCA | 5_prime_UTR_variant | Exon 2 of 5 | ENST00000377403.7 | NP_004276.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
H6PD | ENST00000377403.7 | c.-10-5_-8delCCCAGGCA | splice_region_variant | Exon 2 of 5 | 1 | NM_004285.4 | ENSP00000366620.2 | |||
H6PD | ENST00000377403 | c.-10-5_-8delCCCAGGCA | splice_acceptor_variant, splice_region_variant, 5_prime_UTR_variant, intron_variant | Exon 2 of 5 | 1 | NM_004285.4 | ENSP00000366620.2 | |||
H6PD | ENST00000602477.1 | c.24-5_26delCCCAGGCA | p.Trp8_His9delinsCys | splice_acceptor_variant, disruptive_inframe_deletion, splice_region_variant, intron_variant | Exon 2 of 5 | 1 | ENSP00000473348.1 | |||
H6PD | ENST00000377403.7 | c.-10-5_-8delCCCAGGCA | non_coding_transcript_variant | 1 | NM_004285.4 | ENSP00000366620.2 |
Frequencies
GnomAD3 genomes AF: 0.123 AC: 18716AN: 152034Hom.: 1484 Cov.: 30
GnomAD3 exomes AF: 0.159 AC: 39376AN: 247588Hom.: 3814 AF XY: 0.154 AC XY: 20680AN XY: 133960
GnomAD4 exome AF: 0.146 AC: 213384AN: 1457120Hom.: 17265 AF XY: 0.147 AC XY: 106572AN XY: 725118
GnomAD4 genome AF: 0.123 AC: 18744AN: 152152Hom.: 1493 Cov.: 30 AF XY: 0.128 AC XY: 9535AN XY: 74380
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 255/2178= 11.71% -
Cortisone reductase deficiency 1 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.