NM_004444.5:c.2912A>G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004444.5(EPHB4):c.2912A>G(p.Gln971Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000657 in 152,182 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_004444.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EPHB4 | ENST00000358173.8 | c.2912A>G | p.Gln971Arg | missense_variant | Exon 17 of 17 | 1 | NM_004444.5 | ENSP00000350896.3 | ||
EPHB4 | ENST00000360620.7 | c.2756A>G | p.Gln919Arg | missense_variant | Exon 16 of 16 | 1 | ENSP00000353833.3 | |||
EPHB4 | ENST00000487222.5 | n.4113A>G | non_coding_transcript_exon_variant | Exon 16 of 16 | 1 | |||||
EPHB4 | ENST00000616502 | c.*1377A>G | 3_prime_UTR_variant | Exon 14 of 14 | 5 | ENSP00000482702.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152182Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1441100Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 714254
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74328
ClinVar
Submissions by phenotype
Cardiovascular phenotype Uncertain:1
The p.Q971R variant (also known as c.2912A>G), located in coding exon 17 of the EPHB4 gene, results from an A to G substitution at nucleotide position 2912. The glutamine at codon 971 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at