chr10-103277368-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_032727.4(INA):c.157G>A(p.Ala53Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000141 in 1,414,418 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_032727.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
INA | ENST00000369849.9 | c.157G>A | p.Ala53Thr | missense_variant | Exon 1 of 3 | 1 | NM_032727.4 | ENSP00000358865.4 | ||
NT5C2 | ENST00000676449.1 | c.-239C>T | 5_prime_UTR_variant | Exon 1 of 18 | ENSP00000502801.1 | |||||
NT5C2 | ENST00000675326.1 | c.-383C>T | upstream_gene_variant | ENSP00000502205.1 | ||||||
NT5C2 | ENST00000676428.1 | c.-332C>T | upstream_gene_variant | ENSP00000501689.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000111 AC: 2AN: 179728Hom.: 0 AF XY: 0.00000985 AC XY: 1AN XY: 101538
GnomAD4 exome AF: 0.00000141 AC: 2AN: 1414418Hom.: 0 Cov.: 32 AF XY: 0.00000142 AC XY: 1AN XY: 702596
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at