rs7055196
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_025184.4(EFHC2):c.1111+2980T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.219 in 111,710 control chromosomes in the GnomAD database, including 3,354 homozygotes. There are 6,944 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_025184.4 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 |
---|---|---|---|---|---|---|---|
EFHC2 | NM_025184.4 | c.1111+2980T>C | intron_variant | ENST00000420999.2 | |||
EFHC2 | XM_006724562.3 | c.523+2980T>C | intron_variant | ||||
EFHC2 | XM_047442535.1 | c.1111+2980T>C | intron_variant | ||||
EFHC2 | XM_047442536.1 | c.1111+2980T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EFHC2 | ENST00000420999.2 | c.1111+2980T>C | intron_variant | 1 | NM_025184.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.219 AC: 24434AN: 111654Hom.: 3346 Cov.: 23 AF XY: 0.203 AC XY: 6892AN XY: 33872
GnomAD4 genome ? AF: 0.219 AC: 24498AN: 111710Hom.: 3354 Cov.: 23 AF XY: 0.205 AC XY: 6944AN XY: 33938
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at