4-5562454-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_147127.5(EVC2):c.*394A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00202 in 1,064,908 control chromosomes in the GnomAD database, including 18 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_147127.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EVC2 | ENST00000344408 | c.*394A>G | 3_prime_UTR_variant | Exon 22 of 22 | 1 | NM_147127.5 | ENSP00000342144.5 | |||
EVC2 | ENST00000310917 | c.*394A>G | 3_prime_UTR_variant | Exon 22 of 22 | 1 | ENSP00000311683.2 | ||||
EVC2 | ENST00000475313.5 | n.3419+2804A>G | intron_variant | Intron 21 of 22 | 1 | ENSP00000431981.1 |
Frequencies
GnomAD3 genomes AF: 0.00729 AC: 1110AN: 152212Hom.: 9 Cov.: 32
GnomAD4 exome AF: 0.00114 AC: 1043AN: 912578Hom.: 9 Cov.: 18 AF XY: 0.00114 AC XY: 485AN XY: 426844
GnomAD4 genome AF: 0.00731 AC: 1113AN: 152330Hom.: 9 Cov.: 32 AF XY: 0.00709 AC XY: 528AN XY: 74480
ClinVar
Submissions by phenotype
Ellis-van Creveld syndrome 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
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at