5-112168749-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022140.5(EPB41L4A):c.1922C>A(p.Thr641Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,460,966 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_022140.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
EPB41L4A | ENST00000261486.6 | c.1922C>A | p.Thr641Lys | missense_variant | Exon 22 of 23 | 1 | NM_022140.5 | ENSP00000261486.5 | ||
EPB41L4A | ENST00000507810.5 | n.942C>A | non_coding_transcript_exon_variant | Exon 11 of 14 | 2 | |||||
EPB41L4A | ENST00000509342.6 | n.370C>A | non_coding_transcript_exon_variant | Exon 5 of 6 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249480Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135358
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1460966Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 726868
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1922C>A (p.T641K) alteration is located in exon 22 (coding exon 22) of the EPB41L4A gene. This alteration results from a C to A substitution at nucleotide position 1922, causing the threonine (T) at amino acid position 641 to be replaced by a lysine (K). 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