rs3741367
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_020404.3(CD248):c.1370A>G(p.His457Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.428 in 1,613,238 control chromosomes in the GnomAD database, including 153,883 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_020404.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD248 | NM_020404.3 | c.1370A>G | p.His457Arg | missense_variant | 1/1 | ENST00000311330.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD248 | ENST00000311330.4 | c.1370A>G | p.His457Arg | missense_variant | 1/1 | NM_020404.3 | P1 | ||
ENST00000534065.1 | n.140+2666T>C | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.377 AC: 57073AN: 151514Hom.: 11816 Cov.: 31
GnomAD3 exomes AF: 0.409 AC: 102635AN: 250962Hom.: 23093 AF XY: 0.402 AC XY: 54467AN XY: 135644
GnomAD4 exome AF: 0.433 AC: 633065AN: 1461606Hom.: 142065 Cov.: 69 AF XY: 0.427 AC XY: 310342AN XY: 727084
GnomAD4 genome ? AF: 0.377 AC: 57093AN: 151632Hom.: 11818 Cov.: 31 AF XY: 0.376 AC XY: 27847AN XY: 74040
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at