13-53402639-A-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The ENST00000615176.1(ENSG00000273919):n.977-7361A>C 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 0.435 in 151,998 control chromosomes in the GnomAD database, including 14,749 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 -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000615176.1 | n.977-7361A>C | intron_variant, non_coding_transcript_variant | 2 | ||||||
ENST00000657016.1 | n.629+98517A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000688155.1 | n.46-20141A>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.435 AC: 66083AN: 151878Hom.: 14741 Cov.: 33
GnomAD4 genome AF: 0.435 AC: 66126AN: 151998Hom.: 14749 Cov.: 33 AF XY: 0.438 AC XY: 32571AN XY: 74280
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at