chr5-112169043-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_022140.5(EPB41L4A):c.1802G>A(p.Arg601His) variant causes a missense change. The variant allele was found at a frequency of 0.0000143 in 1,613,974 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EPB41L4A | ENST00000261486.6 | c.1802G>A | p.Arg601His | missense_variant | Exon 21 of 23 | 1 | NM_022140.5 | ENSP00000261486.5 | ||
EPB41L4A | ENST00000507810.5 | n.822G>A | non_coding_transcript_exon_variant | Exon 10 of 14 | 2 | |||||
EPB41L4A | ENST00000509342.6 | n.250G>A | non_coding_transcript_exon_variant | Exon 4 of 6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152124Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000441 AC: 11AN: 249584Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135410
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461850Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727222
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152124Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74300
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1802G>A (p.R601H) alteration is located in exon 21 (coding exon 21) of the EPB41L4A gene. This alteration results from a G to A substitution at nucleotide position 1802, causing the arginine (R) at amino acid position 601 to be replaced by a histidine (H). 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