rs11944332
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000647106.1(HAND2-AS1):n.142-930A>G 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 0.117 in 787,432 control chromosomes in the GnomAD database, including 6,122 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
ENST00000647106.1 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HAND2-AS1 | ENST00000647106.1 | n.142-930A>G | intron_variant, non_coding_transcript_variant | ||||||
RANP6 | ENST00000413691.2 | downstream_gene_variant |
Frequencies
GnomAD3 genomes ? AF: 0.113 AC: 17243AN: 152086Hom.: 1041 Cov.: 32
GnomAD4 exome AF: 0.118 AC: 75108AN: 635228Hom.: 5080 Cov.: 8 AF XY: 0.119 AC XY: 40536AN XY: 339322
GnomAD4 genome ? AF: 0.113 AC: 17253AN: 152204Hom.: 1042 Cov.: 32 AF XY: 0.109 AC XY: 8148AN XY: 74412
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at