NM_018662.3:c.211G>T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_018662.3(DISC1):c.211G>T(p.Val71Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000685 in 1,614,094 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_018662.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DISC1 | ENST00000439617.8 | c.211G>T | p.Val71Leu | missense_variant | Exon 2 of 13 | 5 | NM_018662.3 | ENSP00000403888.4 | ||
DISC1 | ENST00000366637.8 | c.211G>T | p.Val71Leu | missense_variant | Exon 2 of 13 | 5 | ENSP00000355597.6 | |||
TSNAX-DISC1 | ENST00000602956.5 | n.*72G>T | non_coding_transcript_exon_variant | Exon 6 of 13 | 2 | ENSP00000473532.1 | ||||
TSNAX-DISC1 | ENST00000602956.5 | n.*72G>T | 3_prime_UTR_variant | Exon 6 of 13 | 2 | ENSP00000473532.1 |
Frequencies
GnomAD3 genomes AF: 0.00346 AC: 527AN: 152218Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000951 AC: 236AN: 248040Hom.: 2 AF XY: 0.000744 AC XY: 100AN XY: 134364
GnomAD4 exome AF: 0.000393 AC: 575AN: 1461758Hom.: 5 Cov.: 32 AF XY: 0.000375 AC XY: 273AN XY: 727168
GnomAD4 genome AF: 0.00349 AC: 531AN: 152336Hom.: 1 Cov.: 33 AF XY: 0.00353 AC XY: 263AN XY: 74492
ClinVar
Submissions by phenotype
not provided Benign:1
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DISC1-related disorder Benign:1
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