NM_006012.4:c.-5G>A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_006012.4(CLPP):c.-5G>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0235 in 1,398,188 control chromosomes in the GnomAD database, including 914 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006012.4 5_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 |
---|---|---|---|---|---|---|---|---|---|---|
CLPP | ENST00000245816 | c.-5G>A | 5_prime_UTR_variant | Exon 1 of 6 | 1 | NM_006012.4 | ENSP00000245816.3 | |||
CLPP | ENST00000596070.1 | n.6G>A | non_coding_transcript_exon_variant | Exon 1 of 5 | 5 | |||||
ENSG00000269802 | ENST00000595644.1 | n.35+545C>T | intron_variant | Intron 1 of 3 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0508 AC: 7738AN: 152200Hom.: 418 Cov.: 33
GnomAD3 exomes AF: 0.0201 AC: 967AN: 48062Hom.: 26 AF XY: 0.0179 AC XY: 430AN XY: 24012
GnomAD4 exome AF: 0.0202 AC: 25113AN: 1245872Hom.: 497 Cov.: 31 AF XY: 0.0200 AC XY: 12052AN XY: 601202
GnomAD4 genome AF: 0.0508 AC: 7742AN: 152316Hom.: 417 Cov.: 33 AF XY: 0.0501 AC XY: 3731AN XY: 74480
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
-5G>A in exon 1 of CLPP: This variant is not expected to have clinical significa nce because it has been identified in 10.8% (455/4208) of African American chrom osomes from a broad population by the NHLBI Exome Sequencing Project (http://evs .gs.washington.edu/EVS; dbSNP rs75589928). -
Perrault syndrome 3 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at