rs11778402
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007060870.1(LOC124901921):n.57+16A>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 0.427 in 152,098 control chromosomes in the GnomAD database, including 15,055 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
Consequence
XR_007060870.1 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
LOC124901921 | XR_007060870.1 | n.57+16A>T | intron_variant, non_coding_transcript_variant | ||||
SCARA3 | XM_017013536.3 | c.1370-4075T>A | intron_variant | ||||
SCARA3 | XM_017013537.2 | c.1370-4075T>A | intron_variant | ||||
SCARA3 | XR_949419.3 | n.1774-4075T>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.427 AC: 64964AN: 151978Hom.: 15058 Cov.: 32
GnomAD4 genome ? AF: 0.427 AC: 64976AN: 152098Hom.: 15055 Cov.: 32 AF XY: 0.428 AC XY: 31858AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at