11-61300844-G-A
Variant summary
Our verdict is Uncertain significance. The variant received 3 ACMG points: 3P and 0B. PM2PP3
The NM_001923.5(DDB1):c.3304C>T(p.Arg1102Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,461,892 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001923.5 missense
Scores
Clinical Significance
Conservation
Publications
- White-Kernohan syndromeInheritance: AD Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae), G2P
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ACMG classification
Our verdict: Uncertain_significance. The variant received 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DDB1 | ENST00000301764.12 | c.3304C>T | p.Arg1102Cys | missense_variant | Exon 26 of 27 | 1 | NM_001923.5 | ENSP00000301764.7 | ||
DDB1 | ENST00000540166.5 | n.*29C>T | non_coding_transcript_exon_variant | Exon 28 of 29 | 2 | ENSP00000440269.1 | ||||
DDB1 | ENST00000540166.5 | n.*29C>T | 3_prime_UTR_variant | Exon 28 of 29 | 2 | ENSP00000440269.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD2 exomes AF: 0.00000398 AC: 1AN: 251486 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461892Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727246 show subpopulations
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3304C>T (p.R1102C) alteration is located in exon 26 (coding exon 26) of the DDB1 gene. This alteration results from a C to T substitution at nucleotide position 3304, causing the arginine (R) at amino acid position 1102 to be replaced by a cysteine (C). 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