chr10-122599067-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001377530.1(DMBT1):c.3250C>T(p.His1084Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0339 in 1,613,808 control chromosomes in the GnomAD database, including 1,257 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001377530.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DMBT1 | NM_001377530.1 | c.3250C>T | p.His1084Tyr | missense_variant | 26/56 | ENST00000338354.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DMBT1 | ENST00000338354.10 | c.3250C>T | p.His1084Tyr | missense_variant | 26/56 | 1 | NM_001377530.1 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0271 AC: 4124AN: 152160Hom.: 83 Cov.: 32
GnomAD3 exomes AF: 0.0401 AC: 9987AN: 249032Hom.: 286 AF XY: 0.0426 AC XY: 5756AN XY: 135088
GnomAD4 exome AF: 0.0346 AC: 50546AN: 1461530Hom.: 1172 Cov.: 34 AF XY: 0.0358 AC XY: 26009AN XY: 727054
GnomAD4 genome AF: 0.0272 AC: 4135AN: 152278Hom.: 85 Cov.: 32 AF XY: 0.0284 AC XY: 2113AN XY: 74454
ClinVar
Submissions by phenotype
DMBT1-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | May 21, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at