7-1471173-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001080453.3(INTS1):c.6307G>A(p.Ala2103Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000385 in 1,583,026 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001080453.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
INTS1 | ENST00000404767.8 | c.6307G>A | p.Ala2103Thr | missense_variant | Exon 46 of 48 | 5 | NM_001080453.3 | ENSP00000385722.3 | ||
INTS1 | ENST00000483196.1 | c.346G>A | p.Ala116Thr | missense_variant | Exon 4 of 4 | 5 | ENSP00000419206.1 | |||
INTS1 | ENST00000479671.1 | n.243G>A | splice_region_variant, non_coding_transcript_exon_variant | Exon 2 of 2 | 2 | |||||
INTS1 | ENST00000493446.1 | n.291G>A | non_coding_transcript_exon_variant | Exon 4 of 6 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152182Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000458 AC: 9AN: 196534Hom.: 0 AF XY: 0.0000282 AC XY: 3AN XY: 106304
GnomAD4 exome AF: 0.0000356 AC: 51AN: 1430726Hom.: 0 Cov.: 31 AF XY: 0.0000381 AC XY: 27AN XY: 708644
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152300Hom.: 0 Cov.: 34 AF XY: 0.0000537 AC XY: 4AN XY: 74472
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.6307G>A (p.A2103T) alteration is located in exon 46 (coding exon 45) of the INTS1 gene. This alteration results from a G to A substitution at nucleotide position 6307, causing the alanine (A) at amino acid position 2103 to be replaced by a threonine (T). 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