11-62647364-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030628.2(INTS5):c.2716G>T(p.Ala906Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000378 in 1,613,408 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
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000525 AC: 8AN: 152246Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000240 AC: 6AN: 250390Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135402
GnomAD4 exome AF: 0.0000363 AC: 53AN: 1461162Hom.: 0 Cov.: 33 AF XY: 0.0000316 AC XY: 23AN XY: 726880
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152246Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2716G>T (p.A906S) 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 2716, causing the alanine (A) at amino acid position 906 to be replaced by a serine (S). 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