chr1-232805427-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_019090.3(MAP10):c.-23C>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000521 in 1,612,626 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019090.3 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000315 AC: 48AN: 152226Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000694 AC: 17AN: 244978Hom.: 0 AF XY: 0.0000450 AC XY: 6AN XY: 133356
GnomAD4 exome AF: 0.0000240 AC: 35AN: 1460282Hom.: 0 Cov.: 36 AF XY: 0.0000220 AC XY: 16AN XY: 726336
GnomAD4 genome AF: 0.000322 AC: 49AN: 152344Hom.: 0 Cov.: 33 AF XY: 0.000322 AC XY: 24AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.404C>G (p.A135G) alteration is located in exon 1 (coding exon 1) of the MAP10 gene. This alteration results from a C to G substitution at nucleotide position 404, causing the alanine (A) at amino acid position 135 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at