chrX-77971660-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_ModerateBP6_ModerateBS2
The NM_000052.7(ATP7A):c.19G>A(p.Val7Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000579 in 1,208,821 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. V7V) has been classified as Likely benign.
Frequency
Consequence
NM_000052.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATP7A | NM_000052.7 | c.19G>A | p.Val7Met | missense_variant | 2/23 | ENST00000341514.11 | |
ATP7A | NM_001282224.2 | c.19G>A | p.Val7Met | missense_variant | 2/22 | ||
ATP7A | NR_104109.2 | n.183G>A | non_coding_transcript_exon_variant | 2/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATP7A | ENST00000341514.11 | c.19G>A | p.Val7Met | missense_variant | 2/23 | 1 | NM_000052.7 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000357 AC: 4AN: 112116Hom.: 0 Cov.: 23 AF XY: 0.0000584 AC XY: 2AN XY: 34270
GnomAD3 exomes AF: 0.0000164 AC: 3AN: 183482Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67928
GnomAD4 exome AF: 0.00000274 AC: 3AN: 1096705Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 362153
GnomAD4 genome AF: 0.0000357 AC: 4AN: 112116Hom.: 0 Cov.: 23 AF XY: 0.0000584 AC XY: 2AN XY: 34270
ClinVar
Submissions by phenotype
Menkes kinky-hair syndrome;C0268353:Cutis laxa, X-linked;C1845359:X-linked distal spinal muscular atrophy type 3 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 22, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at