rs79225819
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001723.7(DST):c.5428T>C(p.Tyr1810His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00116 in 1,614,096 control chromosomes in the GnomAD database, including 17 homozygotes. In-silico tool predicts a benign outcome for this variant. 9/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001723.7 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DST | NM_001723.7 | c.5428T>C | p.Tyr1810His | missense_variant | 23/24 | ENST00000370765.11 | |
DST | NM_001374736.1 | c.4930-4122T>C | intron_variant | ENST00000680361.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DST | ENST00000370765.11 | c.5428T>C | p.Tyr1810His | missense_variant | 23/24 | 1 | NM_001723.7 | ||
DST | ENST00000680361.1 | c.4930-4122T>C | intron_variant | NM_001374736.1 |
Frequencies
GnomAD3 genomes ? AF: 0.00617 AC: 938AN: 152128Hom.: 10 Cov.: 32
GnomAD3 exomes AF: 0.00162 AC: 408AN: 251348Hom.: 3 AF XY: 0.00107 AC XY: 146AN XY: 135850
GnomAD4 exome AF: 0.000638 AC: 933AN: 1461850Hom.: 7 Cov.: 36 AF XY: 0.000527 AC XY: 383AN XY: 727226
GnomAD4 genome ? AF: 0.00618 AC: 941AN: 152246Hom.: 10 Cov.: 32 AF XY: 0.00606 AC XY: 451AN XY: 74452
ClinVar
Submissions by phenotype
Hereditary sensory and autonomic neuropathy type 6;C3809470:Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | May 06, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at