2-168851367-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001039724.4(NOSTRIN):c.818C>T(p.Thr273Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000924 in 1,612,726 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001039724.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NOSTRIN | NM_001039724.4 | c.818C>T | p.Thr273Ile | missense_variant | 10/16 | ENST00000317647.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOSTRIN | ENST00000317647.12 | c.818C>T | p.Thr273Ile | missense_variant | 10/16 | 1 | NM_001039724.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000421 AC: 64AN: 151956Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000973 AC: 24AN: 246652Hom.: 0 AF XY: 0.0000673 AC XY: 9AN XY: 133746
GnomAD4 exome AF: 0.0000582 AC: 85AN: 1460652Hom.: 2 Cov.: 31 AF XY: 0.0000427 AC XY: 31AN XY: 726458
GnomAD4 genome AF: 0.000421 AC: 64AN: 152074Hom.: 0 Cov.: 32 AF XY: 0.000390 AC XY: 29AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 19, 2023 | The c.989C>T (p.T330I) alteration is located in exon 15 (coding exon 11) of the NOSTRIN gene. This alteration results from a C to T substitution at nucleotide position 989, causing the threonine (T) at amino acid position 330 to be replaced by an isoleucine (I). 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