chr2-168860907-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001039724.4(NOSTRIN):c.1292C>T(p.Pro431Leu) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00173 in 1,600,312 control chromosomes in the GnomAD database, including 57 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/24 in silico tools predict a benign outcome for this variant. 2/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001039724.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NOSTRIN | NM_001039724.4 | c.1292C>T | p.Pro431Leu | missense_variant, splice_region_variant | 14/16 | ENST00000317647.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOSTRIN | ENST00000317647.12 | c.1292C>T | p.Pro431Leu | missense_variant, splice_region_variant | 14/16 | 1 | NM_001039724.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00949 AC: 1444AN: 152100Hom.: 28 Cov.: 32
GnomAD3 exomes AF: 0.00239 AC: 596AN: 249262Hom.: 13 AF XY: 0.00184 AC XY: 249AN XY: 135252
GnomAD4 exome AF: 0.000907 AC: 1314AN: 1448094Hom.: 28 Cov.: 27 AF XY: 0.000732 AC XY: 528AN XY: 721426
GnomAD4 genome AF: 0.00953 AC: 1450AN: 152218Hom.: 29 Cov.: 32 AF XY: 0.00934 AC XY: 695AN XY: 74430
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Mar 29, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at