20-14085630-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001351661.2(MACROD2):c.173C>T(p.Thr58Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.218 in 1,544,974 control chromosomes in the GnomAD database, including 38,090 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001351661.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MACROD2 | NM_001351661.2 | c.173C>T | p.Thr58Ile | missense_variant | 3/18 | ENST00000684519.1 | |
MACROD2 | NM_001351663.2 | c.173C>T | p.Thr58Ile | missense_variant | 3/18 | ||
MACROD2 | NM_080676.6 | c.173C>T | p.Thr58Ile | missense_variant | 3/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MACROD2 | ENST00000684519.1 | c.173C>T | p.Thr58Ile | missense_variant | 3/18 | NM_001351661.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.244 AC: 36925AN: 151596Hom.: 4683 Cov.: 31
GnomAD3 exomes AF: 0.226 AC: 50612AN: 224064Hom.: 5956 AF XY: 0.225 AC XY: 27442AN XY: 121848
GnomAD4 exome AF: 0.215 AC: 299811AN: 1393262Hom.: 33403 Cov.: 27 AF XY: 0.217 AC XY: 150098AN XY: 692446
GnomAD4 genome ? AF: 0.244 AC: 36954AN: 151712Hom.: 4687 Cov.: 31 AF XY: 0.242 AC XY: 17966AN XY: 74126
ClinVar
Submissions by phenotype
MACROD2-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 18, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at