1-156842104-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014215.3(INSRR):c.3397+8G>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000694 in 1,613,972 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014215.3 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
INSRR | NM_014215.3 | c.3397+8G>T | splice_region_variant, intron_variant | ENST00000368195.4 | NP_055030.1 | |||
NTRK1 | NM_001007792.1 | c.33C>A | p.Pro11= | synonymous_variant | 2/17 | NP_001007793.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
INSRR | ENST00000368195.4 | c.3397+8G>T | splice_region_variant, intron_variant | 1 | NM_014215.3 | ENSP00000357178 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000348 AC: 53AN: 152130Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 250992Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135670
GnomAD4 exome AF: 0.0000404 AC: 59AN: 1461724Hom.: 0 Cov.: 33 AF XY: 0.0000385 AC XY: 28AN XY: 727146
GnomAD4 genome AF: 0.000348 AC: 53AN: 152248Hom.: 0 Cov.: 31 AF XY: 0.000390 AC XY: 29AN XY: 74418
ClinVar
Submissions by phenotype
Hereditary insensitivity to pain with anhidrosis Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Counsyl | May 30, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at