NM_004444.5:c.1752A>G
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_004444.5(EPHB4):c.1752A>G(p.Gly584Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.602 in 1,613,392 control chromosomes in the GnomAD database, including 293,754 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_004444.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.576 AC: 87384AN: 151738Hom.: 25515 Cov.: 31
GnomAD3 exomes AF: 0.614 AC: 154237AN: 251370Hom.: 47741 AF XY: 0.614 AC XY: 83404AN XY: 135864
GnomAD4 exome AF: 0.604 AC: 883387AN: 1461538Hom.: 268233 Cov.: 52 AF XY: 0.605 AC XY: 440033AN XY: 727110
GnomAD4 genome AF: 0.576 AC: 87420AN: 151854Hom.: 25521 Cov.: 31 AF XY: 0.580 AC XY: 43016AN XY: 74222
ClinVar
Submissions by phenotype
not provided Benign:4
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Lymphatic malformation 7 Benign:1
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Capillary malformation-arteriovenous malformation 2 Benign:1
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Cardiovascular phenotype Benign:1
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at