7-43102835-A-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000629291.2(ENSG00000232006):n.308+10789T>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.36 in 152,082 control chromosomes in the GnomAD database, including 10,237 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000629291.2 | n.308+10789T>G | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000653897.1 | n.296+10789T>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000657132.1 | n.177-7671T>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000666102.1 | n.187-7605T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.360 AC: 54663AN: 151964Hom.: 10231 Cov.: 32
GnomAD4 genome AF: 0.360 AC: 54695AN: 152082Hom.: 10237 Cov.: 32 AF XY: 0.356 AC XY: 26471AN XY: 74330
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at