chr11-65582285-T-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001099409.3(EHBP1L1):āc.1613T>Gā(p.Val538Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.484 in 1,527,610 control chromosomes in the GnomAD database, including 181,234 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001099409.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EHBP1L1 | NM_001099409.3 | c.1613T>G | p.Val538Gly | missense_variant | 9/19 | ENST00000309295.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EHBP1L1 | ENST00000309295.9 | c.1613T>G | p.Val538Gly | missense_variant | 9/19 | 1 | NM_001099409.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.453 AC: 68815AN: 151824Hom.: 16332 Cov.: 33
GnomAD3 exomes AF: 0.475 AC: 80724AN: 169966Hom.: 19519 AF XY: 0.484 AC XY: 44130AN XY: 91128
GnomAD4 exome AF: 0.487 AC: 670315AN: 1375666Hom.: 164898 Cov.: 86 AF XY: 0.489 AC XY: 331097AN XY: 676658
GnomAD4 genome AF: 0.453 AC: 68848AN: 151944Hom.: 16336 Cov.: 33 AF XY: 0.459 AC XY: 34079AN XY: 74288
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Apr 27, 2020 | This variant is associated with the following publications: (PMID: 20708005) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at