1-240493438-G-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PP5_ModerateBP4BS2
The NM_022469.4(GREM2):c.38C>T(p.Ala13Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000049 in 1,610,738 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★).
Frequency
Consequence
NM_022469.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GREM2 | NM_022469.4 | c.38C>T | p.Ala13Val | missense_variant | 2/2 | ENST00000318160.5 | |
GREM2 | XM_047427832.1 | c.92C>T | p.Ala31Val | missense_variant | 3/3 | ||
GREM2 | XM_047427839.1 | c.92C>T | p.Ala31Val | missense_variant | 4/4 | ||
GREM2 | XM_011544249.3 | c.38C>T | p.Ala13Val | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GREM2 | ENST00000318160.5 | c.38C>T | p.Ala13Val | missense_variant | 2/2 | 1 | NM_022469.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000112 AC: 17AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000137 AC: 33AN: 240220Hom.: 0 AF XY: 0.000137 AC XY: 18AN XY: 131158
GnomAD4 exome AF: 0.0000432 AC: 63AN: 1458410Hom.: 0 Cov.: 31 AF XY: 0.0000400 AC XY: 29AN XY: 725244
GnomAD4 genome ? AF: 0.000105 AC: 16AN: 152328Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74472
ClinVar
Submissions by phenotype
Tooth agenesis, selective, 9 Pathogenic:2
Pathogenic, criteria provided, single submitter | clinical testing | Mendelics | May 04, 2022 | - - |
Pathogenic, no assertion criteria provided | literature only | OMIM | Dec 29, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at