NM_014913.4:c.144T>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014913.4(ADNP2):c.144T>G(p.Phe48Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000548 in 1,460,384 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 Uncertain significance (★).
Frequency
Consequence
NM_014913.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADNP2 | NM_014913.4 | c.144T>G | p.Phe48Leu | missense_variant | Exon 3 of 4 | ENST00000262198.9 | NP_055728.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000800 AC: 2AN: 250098Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135140
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1460384Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 726464
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.144T>G (p.F48L) alteration is located in exon 3 (coding exon 2) of the ADNP2 gene. This alteration results from a T to G substitution at nucleotide position 144, causing the phenylalanine (F) at amino acid position 48 to be replaced by a leucine (L). 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