rs328384
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000637695.1(ENSG00000283457):n.425-2575G>A 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 0.394 in 152,036 control chromosomes in the GnomAD database, including 12,151 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 |
---|---|---|---|---|---|---|---|
ZFHX3 | NM_001386735.1 | c.-1125+85754C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000637695.1 | n.425-2575G>A | intron_variant, non_coding_transcript_variant | 5 | ||||||
ZFHX3 | ENST00000641206.2 | c.-1608+85754C>T | intron_variant | P1 | |||||
ZFHX3 | ENST00000641018.1 | n.100+85754C>T | intron_variant, non_coding_transcript_variant | ||||||
ZFHX3 | ENST00000642085.1 | n.102+85754C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.394 AC: 59813AN: 151916Hom.: 12135 Cov.: 32
GnomAD4 genome ? AF: 0.394 AC: 59876AN: 152036Hom.: 12151 Cov.: 32 AF XY: 0.393 AC XY: 29190AN XY: 74312
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at