chr19-35013669-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_020895.5(GRAMD1A):c.848C>T(p.Ala283Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000527 in 1,611,674 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020895.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000237 AC: 36AN: 152142Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000527 AC: 13AN: 246744Hom.: 0 AF XY: 0.0000373 AC XY: 5AN XY: 134072
GnomAD4 exome AF: 0.0000336 AC: 49AN: 1459414Hom.: 0 Cov.: 31 AF XY: 0.0000289 AC XY: 21AN XY: 725856
GnomAD4 genome AF: 0.000236 AC: 36AN: 152260Hom.: 0 Cov.: 33 AF XY: 0.000228 AC XY: 17AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.848C>T (p.A283V) alteration is located in exon 9 (coding exon 9) of the GRAMD1A gene. This alteration results from a C to T substitution at nucleotide position 848, causing the alanine (A) at amino acid position 283 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