8-43056528-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_002027.3(FNTA):c.182C>T(p.Pro61Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000645 in 1,395,480 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002027.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FNTA | ENST00000302279.8 | c.182C>T | p.Pro61Leu | missense_variant | Exon 1 of 9 | 1 | NM_002027.3 | ENSP00000303423.3 | ||
ENSG00000254673 | ENST00000534420.1 | n.71-2564C>T | intron_variant | Intron 1 of 5 | 4 | ENSP00000435061.2 | ||||
FNTA | ENST00000529687.5 | c.-1033C>T | upstream_gene_variant | 2 | ENSP00000473479.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000645 AC: 9AN: 1395480Hom.: 0 Cov.: 30 AF XY: 0.00000723 AC XY: 5AN XY: 691274
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.182C>T (p.P61L) alteration is located in exon 1 (coding exon 1) of the FNTA gene. This alteration results from a C to T substitution at nucleotide position 182, causing the proline (P) at amino acid position 61 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