chr5-112204429-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_022140.5(EPB41L4A):c.1322G>A(p.Arg441His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00107 in 1,613,770 control chromosomes in the GnomAD database, including 21 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_022140.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EPB41L4A | NM_022140.5 | c.1322G>A | p.Arg441His | missense_variant | 15/23 | ENST00000261486.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EPB41L4A | ENST00000261486.6 | c.1322G>A | p.Arg441His | missense_variant | 15/23 | 1 | NM_022140.5 | P1 | |
ENST00000506875.1 | n.138C>T | non_coding_transcript_exon_variant | 3/4 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00564 AC: 857AN: 151970Hom.: 11 Cov.: 32
GnomAD3 exomes AF: 0.00139 AC: 346AN: 249580Hom.: 6 AF XY: 0.00117 AC XY: 159AN XY: 135406
GnomAD4 exome AF: 0.000589 AC: 861AN: 1461682Hom.: 10 Cov.: 30 AF XY: 0.000516 AC XY: 375AN XY: 727156
GnomAD4 genome ? AF: 0.00564 AC: 858AN: 152088Hom.: 11 Cov.: 32 AF XY: 0.00555 AC XY: 413AN XY: 74348
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at