6-159036986-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_054114.5(TAGAP):c.1037G>A(p.Gly346Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00187 in 1,613,620 control chromosomes in the GnomAD database, including 48 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 the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_054114.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00908 AC: 1381AN: 152050Hom.: 21 Cov.: 32
GnomAD3 exomes AF: 0.00260 AC: 646AN: 248666Hom.: 8 AF XY: 0.00207 AC XY: 279AN XY: 134700
GnomAD4 exome AF: 0.00111 AC: 1629AN: 1461454Hom.: 27 Cov.: 31 AF XY: 0.000975 AC XY: 709AN XY: 727040
GnomAD4 genome AF: 0.00908 AC: 1382AN: 152166Hom.: 21 Cov.: 32 AF XY: 0.00883 AC XY: 657AN XY: 74394
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jul 06, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at