1-156841019-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014215.3(INSRR):c.3748C>A(p.Leu1250Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000435 in 1,607,698 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_014215.3 missense
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.3748C>A | p.Leu1250Met | missense_variant | 22/22 | ENST00000368195.4 | NP_055030.1 | |
NTRK1 | NM_001007792.1 | c.10-1062G>T | intron_variant | NP_001007793.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
INSRR | ENST00000368195.4 | c.3748C>A | p.Leu1250Met | missense_variant | 22/22 | 1 | NM_014215.3 | ENSP00000357178 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152240Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000214 AC: 5AN: 234086Hom.: 0 AF XY: 0.0000157 AC XY: 2AN XY: 127018
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1455458Hom.: 0 Cov.: 32 AF XY: 0.00000415 AC XY: 3AN XY: 723496
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152240Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 09, 2021 | The c.3748C>A (p.L1250M) alteration is located in exon 22 (coding exon 22) of the INSRR gene. This alteration results from a C to A substitution at nucleotide position 3748, causing the leucine (L) at amino acid position 1250 to be replaced by a methionine (M). 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