rs62367737
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000503349.1(ENSG00000249061):n.220-8147A>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 0.0487 in 152,178 control chromosomes in the GnomAD database, including 266 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000503349.1 | n.220-8147A>C | intron_variant, non_coding_transcript_variant | 2 | ||||||
MIR4280HG | ENST00000662995.1 | n.287-30488T>G | intron_variant, non_coding_transcript_variant | ||||||
MIR4280HG | ENST00000666497.1 | n.327+24553T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0487 AC: 7407AN: 152060Hom.: 266 Cov.: 32
GnomAD4 genome AF: 0.0487 AC: 7405AN: 152178Hom.: 266 Cov.: 32 AF XY: 0.0468 AC XY: 3478AN XY: 74394
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at