chr9-109255574-G-A
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019114.5(EPB41L4B):c.1106C>T(p.Thr369Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000173 in 1,614,050 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019114.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EPB41L4B | ENST00000374566.8 | c.1106C>T | p.Thr369Met | missense_variant | Exon 11 of 26 | 1 | NM_019114.5 | ENSP00000363694.3 | ||
EPB41L4B | ENST00000374557.4 | c.1106C>T | p.Thr369Met | missense_variant | Exon 11 of 16 | 1 | ENSP00000363685.3 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152168Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0000200 AC: 5AN: 249570 AF XY: 0.0000222 show subpopulations
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461882Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 14AN XY: 727240 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152168Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74344 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1106C>T (p.T369M) alteration is located in exon 11 (coding exon 11) of the EPB41L4B gene. This alteration results from a C to T substitution at nucleotide position 1106, causing the threonine (T) at amino acid position 369 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