NM_001715.3:c.1313-28C>T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001715.3(BLK):c.1313-28C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.396 in 1,594,148 control chromosomes in the GnomAD database, including 133,786 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001715.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.426 AC: 64707AN: 152038Hom.: 14772 Cov.: 34
GnomAD3 exomes AF: 0.468 AC: 96928AN: 206998Hom.: 25315 AF XY: 0.460 AC XY: 53055AN XY: 115252
GnomAD4 exome AF: 0.393 AC: 566106AN: 1441992Hom.: 118985 Cov.: 35 AF XY: 0.394 AC XY: 282020AN XY: 716564
GnomAD4 genome AF: 0.426 AC: 64785AN: 152156Hom.: 14801 Cov.: 34 AF XY: 0.436 AC XY: 32395AN XY: 74366
ClinVar
Submissions by phenotype
not provided Benign:2
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Maturity-onset diabetes of the young type 11 Benign:1
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Systemic lupus erythematosus Benign:1
BLK gene is associated with Systemic lupus erythematosus, sjogren's syndrome and other systemic inflammatory conditions. However no sufficient evidence is found to ascertain the role of this particular variant rs10097015, yet. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at