14-68874936-T-A
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 3P and 14B. PM1PP2BP4_StrongBP6_ModerateBS1BS2
The NM_001130004.2(ACTN1):c.2668A>T(p.Thr890Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0138 in 1,612,820 control chromosomes in the GnomAD database, including 205 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001130004.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0113 AC: 1715AN: 152096Hom.: 19 Cov.: 33
GnomAD3 exomes AF: 0.0111 AC: 2778AN: 249814Hom.: 27 AF XY: 0.0111 AC XY: 1500AN XY: 135324
GnomAD4 exome AF: 0.0140 AC: 20479AN: 1460606Hom.: 186 Cov.: 31 AF XY: 0.0138 AC XY: 10014AN XY: 726444
GnomAD4 genome AF: 0.0113 AC: 1715AN: 152214Hom.: 19 Cov.: 33 AF XY: 0.0107 AC XY: 799AN XY: 74414
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Feb 03, 2025 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at