1-156840978-C-T
Variant summary
Our verdict is Likely benign. The variant received -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_014215.3(INSRR):c.3789G>A(p.Pro1263Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000614 in 1,613,514 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_014215.3 synonymous
Scores
Clinical Significance
Conservation
Publications
- hereditary sensory and autonomic neuropathy type 4Inheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Orphanet, G2P, ClinGen, Labcorp Genetics (formerly Invitae)
- familial medullary thyroid carcinomaInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Likely_benign. The variant received -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152196Hom.: 0 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.0000607 AC: 15AN: 247312 AF XY: 0.0000671 show subpopulations
GnomAD4 exome AF: 0.0000650 AC: 95AN: 1461318Hom.: 0 Cov.: 32 AF XY: 0.0000647 AC XY: 47AN XY: 726908 show subpopulations
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152196Hom.: 0 Cov.: 31 AF XY: 0.0000403 AC XY: 3AN XY: 74356 show subpopulations
ClinVar
Submissions by phenotype
not provided Benign:1
INSRR: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at