2-85545425-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000821.7(GGCX):c.*4509G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.514 in 152,128 control chromosomes in the GnomAD database, including 21,099 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000821.7 3_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GGCX | NM_000821.7 | c.*4509G>A | 3_prime_UTR_variant | Exon 15 of 15 | ENST00000233838.9 | NP_000812.2 | ||
MAT2A | NM_005911.6 | c.*1653C>T | downstream_gene_variant | ENST00000306434.8 | NP_005902.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.514 AC: 78047AN: 151850Hom.: 21044 Cov.: 32
GnomAD4 exome AF: 0.456 AC: 73AN: 160Hom.: 15 Cov.: 0 AF XY: 0.480 AC XY: 49AN XY: 102
GnomAD4 genome AF: 0.514 AC: 78143AN: 151968Hom.: 21084 Cov.: 32 AF XY: 0.510 AC XY: 37908AN XY: 74264
ClinVar
Submissions by phenotype
Vitamin K-dependent clotting factors, combined deficiency of, type 1 Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at