NM_001142616.3:c.2752C>T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4BS2_Supporting
The NM_001142616.3(EHBP1):c.2752C>T(p.Arg918Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000245 in 1,591,280 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_001142616.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151800Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000485 AC: 12AN: 247278Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 133798
GnomAD4 exome AF: 0.0000243 AC: 35AN: 1439480Hom.: 0 Cov.: 30 AF XY: 0.0000168 AC XY: 12AN XY: 716180
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151800Hom.: 0 Cov.: 32 AF XY: 0.0000405 AC XY: 3AN XY: 74102
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2965C>T (p.R989W) alteration is located in exon 19 (coding exon 18) of the EHBP1 gene. This alteration results from a C to T substitution at nucleotide position 2965, causing the arginine (R) at amino acid position 989 to be replaced by a tryptophan (W). 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