chr22-37374135-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_052906.5(ELFN2):āc.1400T>Cā(p.Val467Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000341 in 1,612,846 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V467I) has been classified as Uncertain significance.
Frequency
Consequence
NM_052906.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ELFN2 | NM_052906.5 | c.1400T>C | p.Val467Ala | missense_variant | 3/3 | ENST00000402918.7 | |
ELFN2 | NR_110512.2 | n.183-31432T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ELFN2 | ENST00000402918.7 | c.1400T>C | p.Val467Ala | missense_variant | 3/3 | 4 | NM_052906.5 | P1 | |
ELFN2 | ENST00000452946.1 | n.149-31432T>C | intron_variant, non_coding_transcript_variant | 4 | |||||
ELFN2 | ENST00000430883.5 | n.434+10715T>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152142Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250572Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135544
GnomAD4 exome AF: 0.0000315 AC: 46AN: 1460704Hom.: 0 Cov.: 85 AF XY: 0.0000358 AC XY: 26AN XY: 726690
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152142Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74330
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at