chr11-34646522-C-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_012153.6(EHF):c.181C>A(p.His61Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 1,613,906 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012153.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152144Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250784Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135494
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461762Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727200
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152144Hom.: 0 Cov.: 31 AF XY: 0.000108 AC XY: 8AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.247C>A (p.H83N) alteration is located in exon 3 (coding exon 3) of the EHF gene. This alteration results from a C to A substitution at nucleotide position 247, causing the histidine (H) at amino acid position 83 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at