19-501903-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_130760.3(MADCAM1):c.902C>T(p.Thr301Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000512 in 1,543,220 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MADCAM1 | NM_130760.3 | c.902C>T | p.Thr301Met | missense_variant | 4/5 | ENST00000215637.8 | |
MADCAM1-AS1 | XR_936221.4 | n.515-279G>A | intron_variant, non_coding_transcript_variant | ||||
MADCAM1 | NM_130762.3 | c.668-2842C>T | intron_variant | ||||
MADCAM1-AS1 | XR_007067073.1 | n.515-279G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MADCAM1 | ENST00000215637.8 | c.902C>T | p.Thr301Met | missense_variant | 4/5 | 1 | NM_130760.3 | P2 | |
MADCAM1-AS1 | ENST00000592413.2 | n.459-279G>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000660 AC: 10AN: 151568Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000821 AC: 13AN: 158280Hom.: 0 AF XY: 0.0000822 AC XY: 7AN XY: 85148
GnomAD4 exome AF: 0.0000496 AC: 69AN: 1391532Hom.: 0 Cov.: 41 AF XY: 0.0000539 AC XY: 37AN XY: 686884
GnomAD4 genome ? AF: 0.0000659 AC: 10AN: 151688Hom.: 0 Cov.: 32 AF XY: 0.0000809 AC XY: 6AN XY: 74162
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 25, 2022 | The c.902C>T (p.T301M) alteration is located in exon 4 (coding exon 4) of the MADCAM1 gene. This alteration results from a C to T substitution at nucleotide position 902, causing the threonine (T) at amino acid position 301 to be replaced by a methionine (M). 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