11-62647454-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030628.2(INTS5):c.2626G>T(p.Val876Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000237 in 1,606,744 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030628.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152194Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000817 AC: 2AN: 244668Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132022
GnomAD4 exome AF: 0.0000213 AC: 31AN: 1454550Hom.: 0 Cov.: 33 AF XY: 0.0000194 AC XY: 14AN XY: 722738
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152194Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2626G>T (p.V876L) alteration is located in exon 2 (coding exon 2) of the INTS5 gene. This alteration results from a G to T substitution at nucleotide position 2626, causing the valine (V) at amino acid position 876 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