11-65580112-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001099409.3(EHBP1L1):c.344C>T(p.Thr115Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000942 in 1,613,094 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_001099409.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EHBP1L1 | ENST00000309295.9 | c.344C>T | p.Thr115Met | missense_variant | Exon 5 of 19 | 1 | NM_001099409.3 | ENSP00000312671.4 | ||
EHBP1L1 | ENST00000533237.5 | c.344C>T | p.Thr115Met | missense_variant | Exon 5 of 12 | 5 | ENSP00000431996.1 | |||
EHBP1L1 | ENST00000634639.1 | c.344C>T | p.Thr115Met | missense_variant | Exon 5 of 12 | 5 | ENSP00000489002.1 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000154 AC: 38AN: 246976Hom.: 0 AF XY: 0.000134 AC XY: 18AN XY: 134488
GnomAD4 exome AF: 0.0000958 AC: 140AN: 1460872Hom.: 0 Cov.: 31 AF XY: 0.0000867 AC XY: 63AN XY: 726684
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.344C>T (p.T115M) alteration is located in exon 5 (coding exon 5) of the EHBP1L1 gene. This alteration results from a C to T substitution at nucleotide position 344, causing the threonine (T) at amino acid position 115 to be replaced by a methionine (M). 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