NM_018136.5:c.-110C>T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_018136.5(ASPM):c.-110C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00412 in 1,207,626 control chromosomes in the GnomAD database, including 162 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_018136.5 5_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASPM | ENST00000367409.9 | c.-110C>T | 5_prime_UTR_variant | Exon 1 of 28 | 1 | NM_018136.5 | ENSP00000356379.4 | |||
ASPM | ENST00000294732.11 | c.-110C>T | 5_prime_UTR_variant | Exon 1 of 27 | 1 | ENSP00000294732.7 | ||||
ASPM | ENST00000680265.1 | c.-110C>T | 5_prime_UTR_variant | Exon 1 of 29 | ENSP00000505384.1 | |||||
ASPM | ENST00000679766.1 | n.108C>T | non_coding_transcript_exon_variant | Exon 1 of 4 |
Frequencies
GnomAD3 genomes AF: 0.0186 AC: 2828AN: 152208Hom.: 89 Cov.: 31
GnomAD4 exome AF: 0.00204 AC: 2154AN: 1055302Hom.: 73 Cov.: 14 AF XY: 0.00166 AC XY: 890AN XY: 536454
GnomAD4 genome AF: 0.0186 AC: 2827AN: 152324Hom.: 89 Cov.: 31 AF XY: 0.0170 AC XY: 1269AN XY: 74484
ClinVar
Submissions by phenotype
Microcephaly 5, primary, autosomal recessive Uncertain:1Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
- -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at