X-137977928-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000636095.1(ENSG00000283692):n.362-2362C>T 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 0.0635 in 111,059 control chromosomes in the GnomAD database, including 386 homozygotes. There are 2,031 hemizygotes in GnomAD. 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 | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000636095.1 | n.362-2362C>T | intron_variant, non_coding_transcript_variant | 5 | |||||||
ENST00000637564.1 | n.592-2362C>T | intron_variant, non_coding_transcript_variant | 5 | |||||||
ENST00000637685.1 | n.315-2362C>T | intron_variant, non_coding_transcript_variant | 5 | |||||||
ENST00000668975.1 | n.262-2362C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0635 AC: 7050AN: 111007Hom.: 386 Cov.: 22 AF XY: 0.0610 AC XY: 2030AN XY: 33281
GnomAD4 genome AF: 0.0635 AC: 7056AN: 111059Hom.: 386 Cov.: 22 AF XY: 0.0609 AC XY: 2031AN XY: 33343
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at