14-93246298-TAAAA-TAA
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_001002860.4(BTBD7):c.2122-14_2122-13delTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.254 in 1,336,614 control chromosomes in the GnomAD database, including 10,800 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.31 ( 5439 hom., cov: 0)
Exomes 𝑓: 0.25 ( 5361 hom. )
Consequence
BTBD7
NM_001002860.4 intron
NM_001002860.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.08
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.445 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BTBD7 | NM_001002860.4 | c.2122-14_2122-13delTT | intron_variant | ENST00000334746.10 | NP_001002860.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BTBD7 | ENST00000334746.10 | c.2122-14_2122-13delTT | intron_variant | 1 | NM_001002860.4 | ENSP00000335615.5 | ||||
BTBD7 | ENST00000554565.5 | c.1069-14_1069-13delTT | intron_variant | 1 | ENSP00000451010.1 | |||||
BTBD7 | ENST00000553975.1 | c.967-14_967-13delTT | intron_variant | 2 | ENSP00000450778.1 | |||||
BTBD7 | ENST00000355125.3 | n.*743-14_*743-13delTT | intron_variant | 2 | ENSP00000347246.3 |
Frequencies
GnomAD3 genomes AF: 0.314 AC: 44943AN: 143282Hom.: 5427 Cov.: 0
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GnomAD3 exomes AF: 0.285 AC: 30854AN: 108090Hom.: 1049 AF XY: 0.283 AC XY: 16593AN XY: 58568
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GnomAD4 exome AF: 0.247 AC: 294245AN: 1193252Hom.: 5361 AF XY: 0.247 AC XY: 143182AN XY: 578980
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GnomAD4 genome AF: 0.314 AC: 45004AN: 143362Hom.: 5439 Cov.: 0 AF XY: 0.312 AC XY: 21731AN XY: 69618
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ClinVar
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at