rs7057179
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000664514.3(ENSG00000228427):n.332-6476C>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 0.413 in 110,556 control chromosomes in the GnomAD database, including 7,106 homozygotes. There are 13,421 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 | UniProt |
---|---|---|---|---|---|---|---|
LOC107985688 | XR_001755878.2 | n.286-6476C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000664514.3 | n.332-6476C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000450860.1 | n.268-6476C>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000652147.2 | n.322-6480C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.413 AC: 45650AN: 110504Hom.: 7099 Cov.: 23 AF XY: 0.408 AC XY: 13391AN XY: 32812
GnomAD4 genome ? AF: 0.413 AC: 45691AN: 110556Hom.: 7106 Cov.: 23 AF XY: 0.408 AC XY: 13421AN XY: 32874
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at