2-62826114-C-G
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BS2_Supporting
The NM_001142616.3(EHBP1):c.340C>G(p.Leu114Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000053 in 1,510,636 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001142616.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152066Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000102 AC: 2AN: 196834Hom.: 0 AF XY: 0.00000929 AC XY: 1AN XY: 107650
GnomAD4 exome AF: 0.00000442 AC: 6AN: 1358570Hom.: 0 Cov.: 30 AF XY: 0.00000446 AC XY: 3AN XY: 672538
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152066Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74280
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.340C>G (p.L114V) alteration is located in exon 6 (coding exon 5) of the EHBP1 gene. This alteration results from a C to G substitution at nucleotide position 340, causing the leucine (L) at amino acid position 114 to be replaced by a valine (V). 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