rs117681493
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_016616.5(NME8):c.528+11T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00647 in 1,559,612 control chromosomes in the GnomAD database, including 52 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_016616.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00448 AC: 674AN: 150392Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.00480 AC: 1101AN: 229224Hom.: 5 AF XY: 0.00509 AC XY: 633AN XY: 124390
GnomAD4 exome AF: 0.00669 AC: 9421AN: 1409104Hom.: 50 Cov.: 32 AF XY: 0.00646 AC XY: 4527AN XY: 700538
GnomAD4 genome AF: 0.00448 AC: 674AN: 150508Hom.: 2 Cov.: 33 AF XY: 0.00414 AC XY: 304AN XY: 73362
ClinVar
Submissions by phenotype
not specified Benign:2
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528+11T>C in intron 9 of TXNDC3: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 0.8% (66/8520) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs117681493). -
Primary ciliary dyskinesia 6 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at