rs146263203
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6BP7
The NM_001723.7(DST):c.5892C>T(p.Thr1964=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000947 in 1,614,032 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. T1964T) has been classified as Likely benign.
Frequency
Consequence
NM_001723.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DST | NM_001723.7 | c.5892C>T | p.Thr1964= | synonymous_variant | 23/24 | ENST00000370765.11 | |
DST | NM_001374736.1 | c.4930-3658C>T | intron_variant | ENST00000680361.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DST | ENST00000370765.11 | c.5892C>T | p.Thr1964= | synonymous_variant | 23/24 | 1 | NM_001723.7 | ||
DST | ENST00000680361.1 | c.4930-3658C>T | intron_variant | NM_001374736.1 |
Frequencies
GnomAD3 genomes ? AF: 0.000737 AC: 112AN: 152054Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000717 AC: 180AN: 251124Hom.: 0 AF XY: 0.000796 AC XY: 108AN XY: 135706
GnomAD4 exome AF: 0.000969 AC: 1416AN: 1461860Hom.: 1 Cov.: 36 AF XY: 0.000954 AC XY: 694AN XY: 727230
GnomAD4 genome ? AF: 0.000736 AC: 112AN: 152172Hom.: 1 Cov.: 32 AF XY: 0.000659 AC XY: 49AN XY: 74386
ClinVar
Submissions by phenotype
not provided Benign:4
Likely benign, no assertion criteria provided | clinical testing | Genome Diagnostics Laboratory, University Medical Center Utrecht | - | - - |
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Apr 01, 2023 | DST: BP4, BP7 - |
Likely benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Likely benign, no assertion criteria provided | clinical testing | Clinical Genetics, Academic Medical Center | - | - - |
Hereditary sensory and autonomic neuropathy type 6 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Hereditary sensory and autonomic neuropathy type 6;C3809470:Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at