19-496528-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_130760.3(MADCAM1):c.29C>T(p.Ala10Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000929 in 1,302,154 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/23 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_130760.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000970 AC: 14AN: 144402Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.000150 AC: 17AN: 113000Hom.: 0 AF XY: 0.0000981 AC XY: 6AN XY: 61192
GnomAD4 exome AF: 0.0000924 AC: 107AN: 1157752Hom.: 1 Cov.: 31 AF XY: 0.0000703 AC XY: 39AN XY: 554432
GnomAD4 genome AF: 0.0000970 AC: 14AN: 144402Hom.: 0 Cov.: 29 AF XY: 0.0000715 AC XY: 5AN XY: 69944
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 30, 2023 | The c.29C>T (p.A10V) alteration is located in exon 1 (coding exon 1) of the MADCAM1 gene. This alteration results from a C to T substitution at nucleotide position 29, causing the alanine (A) at amino acid position 10 to be replaced by a valine (V). 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