rs372489000
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4BP6_ModerateBP7BS2
The NM_000052.7(ATP7A):c.3883C>A(p.Arg1295=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000355 in 1,209,952 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 28 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. R1295R) has been classified as Likely benign.
Frequency
Consequence
NM_000052.7 synonymous
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.3883C>A | p.Arg1295= | synonymous_variant | 20/23 | ENST00000341514.11 | |
ATP7A | NM_001282224.2 | c.3649C>A | p.Arg1217= | synonymous_variant | 19/22 | ||
ATP7A | NR_104109.2 | n.1056C>A | non_coding_transcript_exon_variant | 7/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATP7A | ENST00000341514.11 | c.3883C>A | p.Arg1295= | synonymous_variant | 20/23 | 1 | NM_000052.7 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000895 AC: 1AN: 111746Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33936
GnomAD3 exomes AF: 0.0000763 AC: 14AN: 183431Hom.: 0 AF XY: 0.000147 AC XY: 10AN XY: 67899
GnomAD4 exome AF: 0.0000382 AC: 42AN: 1098154Hom.: 0 Cov.: 31 AF XY: 0.0000770 AC XY: 28AN XY: 363512
GnomAD4 genome ? AF: 0.00000894 AC: 1AN: 111798Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33998
ClinVar
Submissions by phenotype
Menkes kinky-hair syndrome Benign:1
Likely benign, no assertion criteria provided | clinical testing | Natera, Inc. | Jul 20, 2021 | - - |
Menkes kinky-hair syndrome;C0268353:Cutis laxa, X-linked;C1845359:X-linked distal spinal muscular atrophy type 3 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Nov 25, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at