rs2076500
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001171876.2(MCF2):c.1543+91G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0214 in 841,890 control chromosomes in the GnomAD database, including 1,043 homozygotes. There are 5,600 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
Consequence
NM_001171876.2 intron
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 |
---|---|---|---|---|---|---|---|
MCF2 | NM_001171876.2 | c.1543+91G>A | intron_variant | ENST00000519895.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MCF2 | ENST00000519895.6 | c.1543+91G>A | intron_variant | 2 | NM_001171876.2 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0219 AC: 2428AN: 110853Hom.: 97 Cov.: 23 AF XY: 0.0245 AC XY: 814AN XY: 33197
GnomAD4 exome AF: 0.0213 AC: 15592AN: 730984Hom.: 944 AF XY: 0.0248 AC XY: 4781AN XY: 192748
GnomAD4 genome ? AF: 0.0220 AC: 2438AN: 110906Hom.: 99 Cov.: 23 AF XY: 0.0246 AC XY: 819AN XY: 33262
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at