chr6-93258246-G-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_004440.4(EPHA7):āc.1963C>Gā(p.Pro655Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000754 in 1,458,934 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P655R) has been classified as Uncertain significance.
Frequency
Consequence
NM_004440.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EPHA7 | NM_004440.4 | c.1963C>G | p.Pro655Ala | missense_variant | 11/17 | ENST00000369303.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EPHA7 | ENST00000369303.9 | c.1963C>G | p.Pro655Ala | missense_variant | 11/17 | 1 | NM_004440.4 | P3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250008Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135176
GnomAD4 exome AF: 0.00000754 AC: 11AN: 1458934Hom.: 0 Cov.: 33 AF XY: 0.00000965 AC XY: 7AN XY: 725428
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 22, 2023 | The c.1963C>G (p.P655A) alteration is located in exon 11 (coding exon 11) of the EPHA7 gene. This alteration results from a C to G substitution at nucleotide position 1963, causing the proline (P) at amino acid position 655 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at